PDGFB

Summary

PDGFB (platelet derived growth factor subunit B, HGNC:8800) is a protein-coding gene on chromosome 22q13.1, encoding Platelet-derived growth factor subunit B (P01127). Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis.

This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 5155 — RefSeq curated summary.

At a glance

• Gene–disease (curated): basal ganglia calcification, idiopathic, 5 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 223 total — 16 pathogenic, 13 likely-pathogenic
• GTEx eGene: eQTL in 10 tissues, sQTL in 3 (q < 0.05)
• Phenotypes (HPO): 142
• Drug target: yes — 1 curated mechanism-of-action drug
• Constraint (gnomAD): pLI 0.99 (loss-of-function intolerant), LOEUF 0.47 (moderately constrained)
• Transcription factor: yes — 13 downstream targets (CollecTRI)
• MANE Select transcript: NM_002608
• Interaction hub: 2,062 STRING partners (top 7% of genes corpus-wide)

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8800
Approved symbol	PDGFB
Name	platelet derived growth factor subunit B
Location	22q13.1
Locus type	gene with protein product
Status	Approved
Aliases	SSV
Ensembl gene	ENSG00000100311
Ensembl biotype	protein_coding
OMIM	190040
Entrez	5155

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 nonsense_mediated_decay

MANE Select: ENST00000331163

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 4: 2, TSL 5: 1

ENST00000331163, ENST00000381551, ENST00000440375, ENST00000455790, ENST00000921091, ENST00000921092, ENST00000971907, ENST00001051459, ENST00001051460

RefSeq mRNA: 2 — MANE Select: NM_002608 NM_002608, NM_033016

CCDS: CCDS13987, CCDS33650

Canonical transcript exons

ENST00000331163 — 7 exons

Exon	Start	End
ENSE00000654697	39231622	39231827
ENSE00000654698	39233435	39233524
ENSE00000880349	39225695	39225847
ENSE00001121630	39243901	39244982
ENSE00001355284	39223359	39225313
ENSE00001877460	39230084	39230228
ENSE00003510240	39235778	39235874

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 92.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.6304 / max 872.8524, expressed in 1109 samples.

Highest expression (Bgee): olfactory bulb, type B pancreatic cell, apex of heart, pancreatic ductal cell, omental fat pad.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PDGFB is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 10 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

13 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	2.8e-22	+0.46	22:39244698:C:T
Whole Blood	eqtl	7.1e-16	+0.32	22:39239853:G:GCA
Esophagus Mucosa	eqtl	1.2e-08	+0.23	22:39237617:C:T
Skin Sun Exposed Lower leg	sqtl	7.1e-06	-0.35	22:39244698:C:T
Cells EBV-transformed lymphocytes	eqtl	9.3e-06	-0.42	22:39267180:A:G
Skin Not Sun Exposed Suprapubic	eqtl	3.5e-05	+0.18	22:39244698:C:T
Cells EBV-transformed lymphocytes	sqtl	5.7e-04	-0.59	22:39236915:C:G
Skin Sun Exposed Lower leg	eqtl	2.7e-03	+0.14	22:39239853:G:GCA
Ovary	eqtl	6.0e-03	+0.75	22:39133812:G:A
Brain Hippocampus	eqtl	1.4e-02	+0.78	22:39571930:AT:A
Testis	sqtl	1.6e-02	-0.97	22:38348497:C:T
Brain Cerebellum	eqtl	2.9e-02	+0.77	22:39586751:G:A
Adrenal Gland	eqtl	4.3e-02	+1.37	22:39354707:C:T

FANTOM5 promoters

5 alternative TSS:

Promoter ID	TPM avg	Samples expressed
194276	15.4422	1011
194273	0.5902	340
194275	0.2023	116
194272	0.2021	102
194274	0.1934	104

Top tissues by expression

showing 100 of 285 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	92.66	silver quality
type B pancreatic cell	CL:0000169	92.04	silver quality
apex of heart	UBERON:0002098	90.44	gold quality
pancreatic ductal cell	CL:0002079	89.57	gold quality
omental fat pad	UBERON:0010414	89.37	gold quality
peritoneum	UBERON:0002358	89.34	gold quality
adipose tissue of abdominal region	UBERON:0007808	88.70	gold quality
right lung	UBERON:0002167	88.47	gold quality
vena cava	UBERON:0004087	87.96	gold quality
subcutaneous adipose tissue	UBERON:0002190	87.75	gold quality
triceps brachii	UBERON:0001509	87.28	silver quality
heart left ventricle	UBERON:0002084	87.23	gold quality
upper lobe of left lung	UBERON:0008952	87.11	gold quality
cardiac ventricle	UBERON:0002082	87.10	gold quality
upper lobe of lung	UBERON:0008948	86.55	gold quality
cervix squamous epithelium	UBERON:0006922	86.39	silver quality
right lobe of thyroid gland	UBERON:0001119	86.24	gold quality
metanephros cortex	UBERON:0010533	86.23	gold quality
gluteal muscle	UBERON:0002000	86.21	silver quality
adipose tissue	UBERON:0001013	85.88	gold quality
right atrium auricular region	UBERON:0006631	85.61	gold quality
connective tissue	UBERON:0002384	85.17	gold quality
cardiac atrium	UBERON:0002081	85.02	gold quality
parotid gland	UBERON:0001831	84.89	silver quality
heart	UBERON:0000948	84.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	84.52	gold quality
lower esophagus	UBERON:0013473	84.45	gold quality
muscle layer of sigmoid colon	UBERON:0035805	84.34	gold quality
diaphragm	UBERON:0001103	83.99	gold quality
sural nerve	UBERON:0015488	83.79	gold quality
tongue squamous epithelium	UBERON:0006919	83.41	gold quality
left lobe of thyroid gland	UBERON:0001120	83.31	gold quality
placenta	UBERON:0001987	83.19	gold quality
pericardium	UBERON:0002407	83.12	silver quality
lung	UBERON:0002048	82.95	gold quality
thyroid gland	UBERON:0002046	82.90	gold quality
gall bladder	UBERON:0002110	82.68	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.48	gold quality
cervix epithelium	UBERON:0004801	82.30	silver quality
orbitofrontal cortex	UBERON:0004167	81.94	gold quality
skeletal muscle tissue	UBERON:0001134	81.84	gold quality
paraflocculus	UBERON:0005351	81.75	gold quality
renal medulla	UBERON:0000362	81.71	gold quality
endometrium epithelium	UBERON:0004811	81.66	silver quality
muscle organ	UBERON:0001630	81.55	gold quality
pharyngeal mucosa	UBERON:0000355	81.49	silver quality
muscle of leg	UBERON:0001383	81.48	gold quality
frontal pole	UBERON:0002795	81.47	gold quality
gastrocnemius	UBERON:0001388	81.29	gold quality
middle frontal gyrus	UBERON:0002702	81.27	gold quality
CA1 field of hippocampus	UBERON:0003881	81.25	gold quality
layer of synovial tissue	UBERON:0007616	81.19	gold quality
dorsal plus ventral thalamus	UBERON:0001897	81.07	silver quality
smooth muscle tissue	UBERON:0001135	81.00	gold quality
tibial nerve	UBERON:0001323	81.00	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	81.00	silver quality
prefrontal cortex	UBERON:0000451	80.99	gold quality
sigmoid colon	UBERON:0001159	80.98	gold quality
body of tongue	UBERON:0011876	80.90	silver quality
biceps brachii	UBERON:0001507	80.81	gold quality
mucosa of urinary bladder	UBERON:0001259	80.77	silver quality
subthalamic nucleus	UBERON:0001906	80.77	silver quality
muscle tissue	UBERON:0002385	80.77	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	80.73	silver quality
trachea	UBERON:0003126	80.70	silver quality
cardia of stomach	UBERON:0001162	80.65	silver quality
adult mammalian kidney	UBERON:0000082	80.64	gold quality
heart right ventricle	UBERON:0002080	80.59	gold quality
inferior vagus X ganglion	UBERON:0005363	80.56	silver quality
lower lobe of lung	UBERON:0008949	80.51	gold quality
saliva-secreting gland	UBERON:0001044	80.15	gold quality
lateral nuclear group of thalamus	UBERON:0002736	80.03	silver quality
nipple	UBERON:0002030	80.00	gold quality
ventral tegmental area	UBERON:0002691	79.95	silver quality
skin of leg	UBERON:0001511	79.91	gold quality
minor salivary gland	UBERON:0001830	79.82	gold quality
tongue	UBERON:0001723	79.80	silver quality
hair follicle	UBERON:0002073	79.73	silver quality
frontal cortex	UBERON:0001870	79.50	gold quality
pylorus	UBERON:0001166	79.46	gold quality
right frontal lobe	UBERON:0002810	79.46	gold quality
epithelial cell of pancreas	CL:0000083	79.29	silver quality
cerebellar vermis	UBERON:0004720	79.22	gold quality
synovial joint	UBERON:0002217	79.19	gold quality
mouth mucosa	UBERON:0003729	79.16	gold quality
skin of abdomen	UBERON:0001416	79.14	gold quality
nucleus accumbens	UBERON:0001882	78.96	gold quality
myocardium	UBERON:0002349	78.87	silver quality
superficial temporal artery	UBERON:0001614	78.82	silver quality
right hemisphere of cerebellum	UBERON:0014890	78.75	gold quality
myometrium	UBERON:0001296	78.70	gold quality
left uterine tube	UBERON:0001303	78.69	gold quality
medulla oblongata	UBERON:0001896	78.65	gold quality
body of uterus	UBERON:0009853	78.65	gold quality
mucosa of stomach	UBERON:0001199	78.62	gold quality
decidua	UBERON:0002450	78.59	gold quality
midbrain	UBERON:0001891	78.58	gold quality
kidney	UBERON:0002113	78.57	gold quality
neocortex	UBERON:0001950	78.54	gold quality
fundus of stomach	UBERON:0001160	78.42	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8205	yes	105.54
E-ANND-3	yes	9.36

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Placenta	tissue	37.8	high
Hippocampus	tissue	30.8	high
Locus coeruleus	tissue	27.4
Nucleus accumbens	tissue	25.9
Adipose tissue	tissue	21.6	medium
Postcentral gyrus	tissue	19.8
Frontal cortex	tissue	18.6
Lung	tissue	17.7	medium
Skeletal muscle	tissue	17.5	high
Pons	tissue	16.8
Choroid plexus	tissue	16.2
Hippocampal formation	tissue	15.1
Midbrain	tissue	14.9
Cerebral cortex	tissue	14.4	medium
Insular cortex	tissue	14.4
Heart muscle	tissue	14.3	medium
Prefrontal cortex	tissue	13.7
Amygdala	tissue	13.6
Thalamus	tissue	13.6
Superior colliculi	tissue	13.0
Temporal cortex	tissue	13.0
Entorhinal cortex	tissue	12.7
Motor cortex	tissue	12.2
Substantia nigra	tissue	12.2
Retrosplenial cortex	tissue	12.0
Occipital cortex	tissue	11.9
Retrosplenial and cingulate cortex	tissue	11.8
Somatosensory cortex	tissue	11.3
Gallbladder	tissue	10.9	medium
Septum	tissue	10.8
Caudate putamen	tissue	10.7
Tongue	tissue	10.3
Putamen	tissue	10.2
Hypothalamus	tissue	10.2
Spinal cord	tissue	10.2
Medulla oblongata	tissue	10.1
Ventral forebrain	tissue	9.4
Olfactory bulb	tissue	9.4
Thyroid gland	tissue	9.2	medium
Smooth muscle	tissue	8.6	high
Parathyroid gland	tissue	8.3	medium
Pancreas	tissue	8.3	high
Basal ganglia	tissue	7.9	high
Periaqueductal gray	tissue	7.9
Kidney	tissue	7.6	medium
Skin 1	tissue	7.4	medium
Salivary gland	tissue	7.1	medium
Cervix	tissue	7.0	medium
Lymph node	tissue	7.0	medium
Appendix	tissue	6.7	high
Corpus callosum	tissue	6.6
Vagina	tissue	6.1	low
Endometrium 1	tissue	6.1	medium
Urinary bladder	tissue	6.0	medium
Adrenal gland	tissue	6.0	medium
Esophagus	tissue	5.8	medium
Spleen	tissue	5.8	medium
Fallopian tube	tissue	5.1	medium
Small intestine	tissue	5.0	high
Seminal vesicle	tissue	4.9	high

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Nucleus rhomboideus (40.0), Lateral amygdala (37.2), Nucleus gracilis (35.0), Basal amygdala (34.0), Median raphe nucleus (32.8).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

13 targets:

Target	Regulation
ACTA2	Repression
CDK4	Activation
HAS1	Activation
HAS2	Activation
HAS3	Activation
HDAC1	Activation
HYAL1	Activation
HYAL2	Activation
NR4A3	Activation
PPARG	Activation
PRKCD	Activation
PRKCQ	Activation
TAGLN	Repression

Upstream regulators (CollecTRI, top): DNMT1, E2F1, EGR1, ELK1, EPAS1, ESR2, FOS, FOXN1, FOXO1, FOXO3, HIF1A, JUN, KLF5, NFKB1, NFKB, PAX3, SMAD2, SMAD3, SMAD4, SP1, SP3, SPI1, STAT1, STAT3, TP73, VHL, VSX2, YBX1, ZNF174

miRNA regulators (miRDB)

Targeting PDGFB by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 112 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4514	99.99	67.10	1870
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4725-3P	99.96	69.53	2520

Functional genomics

gnomAD constraint: pLI 0.988, LOEUF 0.473, missense Z 0.828 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000331163 — one region, missense o/e 0.87.

Literature-anchored findings (GeneRIF, showing 40)

• The sequential activation and repression of the human PDGF-B gene during chronic hypoxia reveals antagonistic roles for the depletion of oxygen and glucose (PMID:11811779)
• Fusion of COL1A1 exon 29 with PDGFB exon 2 in a der(22)t(17;22) in a pediatric giant cell fibroblastoma with a pigmented Bednar tumor component. Evidence for age-related chromosomal pattern in dermatofibrosarcoma protuberans and related tumors. (PMID:12034531)
• A fusion of COLIA1 exon 24 in frame with PDGFB exon 2 was found in a complex marker chromosome from dermatofibrosarcoma protuberans with sequences from chromosomes 7,8,17,21, & 22. (PMID:12127408)
• determination of PDGFB expression levels in medulloblastoma tumor cell lines (PMID:12176024)
• involvement of Furin gene regulation in the maturation of PDGF-AB in differentiating megakaryoblastic cells (PMID:12411321)
• PDGF and similar cytokines may be important factors in airway remodeling by redistribution of smooth muscle cells during inflammation and that urokinase may be important in potentiating the response. (PMID:12576295)
• The preferential formation of disulfide-bonded heterodimers from an equimolar mixture of unfolded A- and B-chains is thus a kinetically controlled process (PMID:12615918)
• PDGFB enhances wound closure in the absence of wound contraction. (PMID:12850807)
• a time-dependent release of TGFB and PDGF-AB occurred at neutral and alkaline pH, but not pH5, 15 min and 12h after platelet activation, suggesting relevance to wound healing (PMID:12850832)
• propose that the TATA-containing P0 promoter and the 5’-UTR promoter work together to tightly control the expression of PDGF-B (PMID:12960151)
• role in dermal fibroblast migration (PMID:14595114)
• The COL1A1-PDGFB fusion transcripts were detected from the tumor specimens. Sequence analysis revealed that the ends of exons 42, 29 and 38 in the COL1A1 gene were fused with the start of exon 2 in the PDGFB gene in case 1, 2 and 3, respectively. (PMID:14643521)
• cultured follicular keratinocytes synthesize both PDGF-A and PDGF-B, whereas, dermal papilla cells only express PDGF-A. (PMID:14705808)
• PDGF-BB may play some role in the development and progression of liver fibrosis (PMID:14760763)
• PDGFB autocrine inhibition is associated with malignant gliomas (PMID:14997209)
• biological consequences of the mutant PDGFB allele contributed to the unique disease phenotype of the translocation patient (PMID:15081117)
• Overexpression of caveolin-1 in mesangial cells suppresses MAP kinase activation and cell proliferation induced by bFGF and PDGF, two major cytokines in mesangioproliferative nephritis(MN). Caveolin-1 expression vector is potential therapy for MN. (PMID:15496150)
• Data demonstrate that type I collagen synergistically enhances platelet-derived growth factor (PDGF)-induced smooth muscle cell proliferation through Src-dependent crosstalk between the alpha2beta1 integrin and the PDGF receptor beta. (PMID:15522237)
• Data show that constitutive expression of platelet-derived growth factor-BB leads to malignant transformation in nude mice. (PMID:15695519)
• WAVE3-mediated migration in MDA-MB-231 cells via lamellipodia formation is activated downstream of PI3K and induced by PDGF (PMID:15826941)
• NAD(P)H oxidase is expressed in hepatic stellate cells and produces reactive oxygen species via activation of NAD(P)H oxidase in response to the homodimeric complex of PDGF-B, PDGF-BB. (PMID:15915457)
• EWS-Fli1 may play a role in the regulation of PDGF-induced tumor proliferation-signaling enzymes via PLD2 expression in Ewing sarcoma cells (PMID:15919668)
• In the aneurysmal wall of IAAA, weak expressions of PDGF A and B chains were observed in endothelial cells of vessel walls around the inflammatory cells, but the intensity of expression was much weaker than that on the vessel walls in AAAA. (PMID:15956925)
• findings emphasize the importance of the convertase-directed processing of proPDGF-B at the RGRR81/ sequence for PDGF-B maturation and secretion (PMID:16007151)
• in primary fibroblasts stabilization of Ras protein by ROS and ERK1/2 amplifies the response of the cells to growth factors and in systemic sclerosis represents a critical factor in the onset and progression of the disease (PMID:16081426)
• PDGF-BB/PDGF-R interaction is vital in nicotine’s mitogenic actions on human aortic smooth muscle cells (PMID:16149045)
• Expression of PDGF-B and PDGF-Rbeta suggests that autocrine signaling of PDGF may be important in malignant transformation of B-CLL. (PMID:16227675)
• PDGF-B gene polymorphism appears to be associated with severe recurrent HCV infection after liver transplantation. (PMID:16477226)
• Overexpression of PDGF-B was associated with peripheral blood, sentinel lymph node and bone marrow micro-metastasis in breast cancer (PMID:16596190)
• PDGF-BB and TGF-beta1 binding to intact alpha2M is specific, involving a defined region of the alpha2M subunit (PMID:16641085)
• In this review, the interaction of PDGF-B with heparan sulfate proteoglycans is implicated in the process of diffusion, and thus the availability, of PDGF-B that is needed for pericyte recruitment around newly formed capillaries. (PMID:16709185)
• report suggests that in humans, platelet-derived growth factor(PDGF) and downstream activation of protein kinase C could represent an important control for natriuretic peptide precursor C expression in vascular smooth muscle (PMID:16777970)
• Fluorescence in situ hybridization (FISH) analysis demonstrated the COL1A1-PDGFB fusion on both der(22) chromosomes. [Col1A1-PDGFB fusion protein] (PMID:16843106)
• PDGF significantly upregulates neuropilin-1 mRNA expression and protein production in aortic smooth muscle cells (PMID:16847823)
• GRX plays an important role in PDGF-BB-dependent cell proliferation by regulating the redox state of LMW-PTP (PMID:16893901)
• The level of PDGF-BB in obstructive sleep apnea-hypopnea syndrome is elevated. (PMID:17074267)
• The mRNA levels of PDGFB were significantly produced by the megakaryocytes may be associated with the etiology of bone marrow fibrosis in AMM. (PMID:17157157)
• Copy gain of PDGFB occurs in a subset of tumors showing no evidence of mutated BRAF or rearranged ret, suggesting that copy gain of PDGFB may underlie the increased expression of platelet-derived growth factor described recently in the literature. (PMID:17227125)
• N-cadherin and beta-catenin play role in cell migration via PDGF-Rbeta-mediated signaling through the scaffolding molecule NHERF2 (PMID:17229887)
• Induction of PDGF-B is associated with glioma (PMID:17292826)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pdgfbb	ENSDARG00000038139
danio_rerio	pdgfba	ENSDARG00000086778
mus_musculus	Pdgfb	ENSMUSG00000000489
rattus_norvegicus	Pdgfb	ENSRNOG00000017197
drosophila_melanogaster	Pvf1	FBGN0030964
caenorhabditis_elegans		WBGENE00004249

Paralogs (1): PDGFA (ENSG00000197461)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:97528) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 65 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal pericyte morphology	5
abnormal capillary morphology	4
abnormal blood vessel morphology	3
decreased mesangial cell number	3
abnormal retina morphology	2
gliosis	2
abnormal retina vasculature morphology	2
albuminuria	2
abnormal placenta vasculature	2
abnormal renal glomerulus morphology	2
abnormal retina neuronal layer morphology	2
dilated glomerular capillary	2
decreased capillary density	2
abnormal microglial cell morphology	1
decreased hematocrit	1
enlarged heart	1
abnormal urinary bladder morphology	1
small liver	1
microphthalmia	1
retina degeneration	1
postnatal growth retardation	1
skin edema	1
hemorrhage	1
intracerebral hemorrhage	1
reduced female fertility	1

+40 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	P15691	99.3%	Diamond
Ovis aries	P50412	99.3%	Diamond
Canis lupus familiaris	Q6Q7I7	91.7%	Diamond
Felis catus	P12919	91.1%	Diamond
Bitis gabonica	P83906	90.6%	Diamond
Oryctolagus cuniculus	P34007	86.6%	Diamond
Xenopus laevis	P13698	73.8%	Diamond
Woolly monkey sarcoma virus	P01128	93.2%	Diamond
Orf virus (strain NZ2)	P52584	49.4%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
CBX7	protein-coding	23492
APOBEC3H	protein-coding	164668
SNORD83B	snoRNA	116938
RPL3	protein-coding	6122
SNORD139	snoRNA	116936
SNORD83A	snoRNA	116937
TAB1	protein-coding	10454
SNORD43	snoRNA	26807
SYNGR1	protein-coding	9145

Protein

Protein identifiers

Platelet-derived growth factor subunit B — P01127 (reviewed: P01127)

Alternative names: PDGF-2, Platelet-derived growth factor B chain, Platelet-derived growth factor beta polypeptide, Proto-oncogene c-Sis

All UniProt accessions (4): A0A384NYY3, A9UJN9, A9UJP0, P01127

UniProt curated annotations — full annotation on UniProt →

Function. Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFA.

Subunit / interactions. Antiparallel homodimer; disulfide-linked. Antiparallel heterodimer with PDGFA; disulfide-linked. The PDGFB homodimer interacts with PDGFRA and PDGFRB homodimers, and with heterodimers formed by PDGFRA and PDGFRB. The heterodimer composed of PDGFA and PDGFB interacts with PDGFRB homodimers, and with heterodimers formed by PDGFRA and PDGFRB. Interacts with XLKD1. Interacts with LRP1. Interacts with SORL1 (via the N-terminal ectodomain). Interacts with CD82; this interaction inhibits PDGFB-mediated signaling pathway.

Subcellular location. Secreted.

Tissue specificity. Expressed at high levels in the heart, brain (sustantia nigra), placenta and fetal kidney. Expressed at moderate levels in the brain (hippocampus), skeletal muscle, kidney and lung.

Disease relevance. Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483] A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving PDGFB is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGFB.

Similarity. Belongs to the PDGF/VEGF growth factor family.

Isoforms (2)

UniProt ID	Names	Canonical?
P01127-1	1	yes
P01127-2	2

RefSeq proteins (2): NP_002599, NP_148937 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000072	PDGF/VEGF_dom	Domain
IPR006782	PDGF_N	Domain
IPR023581	PD_growth_factor_CS	Conserved_site
IPR029034	Cystine-knot_cytokine	Homologous_superfamily

Pfam: PF00341, PF04692

UniProt features (28 total): disulfide bond 5, strand 5, sequence variant 3, sequence conflict 3, propeptide 2, helix 2, site 2, signal peptide 1, splice variant 1, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

6 structures by resolution:

PDB	Title	Method	Resolution (Å)
4HQU	Crystal structure of human PDGF-BB in complex with a modified nucleotide aptamer (SOMAmer …	X-RAY DIFFRACTION	2.2
3MJG	The structure of a platelet derived growth factor receptor complex	X-RAY DIFFRACTION	2.3
4HQX	CRYSTAL STRUCTURE OF HUMAN PDGF-BB IN COMPLEX WITH A Modified nucleotide aptamer (SOMAmer …	X-RAY DIFFRACTION	2.3
4QCI	PDGF-B blocking antibody bound to PDGF-BB	X-RAY DIFFRACTION	2.3
6T9E	Crystal structure of a bispecific DutaFab in complex with human PDGF	X-RAY DIFFRACTION	2.99
1PDG	CRYSTAL STRUCTURE OF HUMAN PLATELET-DERIVED GROWTH FACTOR BB	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P01127-F1	73.77	0.35

Antibody-complex structures (SAbDab)

2 antibodies co-crystallized with this protein: 4QCI, 6T9E

Human Protein Atlas

Protein class: Predicted secreted proteins, Predicted intracellular proteins, Plasma proteins, RAS pathway related proteins, Cancer-related genes, Candidate cancer biomarkers, Candidate cardiovascular disease genes, Disease related genes, Human disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): vesicles

Antibody reliability (HPA): IH supported · IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2)

Position	Role
108	involved in receptor binding
111	involved in receptor binding

Disulfide bonds (5)

Type	Positions
Interchain	124, 133
Disulfide bond	130–178, 134–180, 97–141

Glycosylation sites (1)

Type	Positions
N-linked (glcnac…) asparagine	63

Function

Pathways and Gene Ontology

Reactome pathways

8 curated (TAS) of 21; 4 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

21 pathways:

ID	Pathway	Evidence
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer ⚕	curated
R-HSA-186763	Downstream signal transduction	curated
R-HSA-3000171	Non-integrin membrane-ECM interactions	curated
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	curated
R-HSA-1257604	PIP3 activates AKT signaling	curated
R-HSA-114608	Platelet degranulation	curated
R-HSA-5673001	RAF/MAP kinase cascade	curated
R-HSA-186797	Signaling by PDGF	curated
R-HSA-1643685	Disease ⚕	—
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers ⚕	—
R-HSA-2219528	PI3K/AKT Signaling in Cancer ⚕	—
R-HSA-1474244	Extracellular matrix organization	—
R-HSA-109582	Hemostasis	—
R-HSA-9006925	Intracellular signaling by second messengers	—
R-HSA-5683057	MAPK family signaling cascades	—
R-HSA-5684996	MAPK1/MAPK3 signaling	—
R-HSA-199418	Negative regulation of the PI3K/AKT network	—
R-HSA-76002	Platelet activation, signaling and aggregation	—
R-HSA-76005	Response to elevated platelet cytosolic Ca2+	—
R-HSA-162582	Signal Transduction	—
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	—

MSigDB gene sets: 0 (showing top):

GO Biological Process (60): angiogenesis (GO:0001525), embryonic placenta development (GO:0001892), positive regulation of endothelial cell proliferation (GO:0001938), monocyte chemotaxis (GO:0002548), positive regulation of glomerular filtration (GO:0003104), protein phosphorylation (GO:0006468), heart development (GO:0007507), positive regulation of cell population proliferation (GO:0008284), response to wounding (GO:0009611), gene expression (GO:0010467), negative regulation of phosphatidylinositol biosynthetic process (GO:0010512), negative regulation of platelet activation (GO:0010544), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), positive regulation of cell-substrate adhesion (GO:0010811), smooth muscle adaptation (GO:0014805), positive regulation of smooth muscle cell migration (GO:0014911), peptidyl-tyrosine phosphorylation (GO:0018108), positive regulation of cell migration (GO:0030335), intracellular signal transduction (GO:0035556), interleukin-18-mediated signaling pathway (GO:0035655), positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793), cellular response to platelet-derived growth factor stimulus (GO:0036120), paracrine signaling (GO:0038001), positive regulation of MAP kinase activity (GO:0043406), positive regulation of MAPK cascade (GO:0043410), positive regulation of blood vessel endothelial cell migration (GO:0043536), positive regulation of mitotic nuclear division (GO:0045840), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), platelet-derived growth factor receptor signaling pathway (GO:0048008), positive regulation of fibroblast proliferation (GO:0048146), positive regulation of smooth muscle cell proliferation (GO:0048661), positive regulation of chemotaxis (GO:0050921), positive regulation of cell division (GO:0051781), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), cell chemotaxis (GO:0060326), positive regulation of ERK1 and ERK2 cascade (GO:0070374), cellular response to growth factor stimulus (GO:0071363), cellular response to mycophenolic acid (GO:0071506), positive regulation of glomerular mesangial cell proliferation (GO:0072126), metanephric glomerular mesangial cell development (GO:0072255), reactive oxygen species metabolic process (GO:0072593), positive regulation of calcium ion import (GO:0090280), positive regulation of hyaluronan biosynthetic process (GO:1900127), negative regulation of miRNA transcription (GO:1902894), positive regulation of miRNA transcription (GO:1902895), positive regulation of vascular associated smooth muscle cell proliferation (GO:1904707), positive regulation of vascular associated smooth muscle cell migration (GO:1904754), negative regulation of vascular associated smooth muscle cell differentiation (GO:1905064), positive regulation of vascular associated smooth muscle cell dedifferentiation (GO:1905176), positive regulation of reactive oxygen species metabolic process (GO:2000379), positive regulation of DNA biosynthetic process (GO:2000573), positive regulation of metanephric mesenchymal cell migration (GO:2000591), cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169), regulation of gene expression (GO:0010468), positive regulation of macromolecule biosynthetic process (GO:0010557), positive chemotaxis (GO:0050918), regulation of multicellular organismal process (GO:0051239), positive regulation of intracellular signal transduction (GO:1902533)

GO Molecular Function (11): platelet-derived growth factor receptor binding (GO:0005161), collagen binding (GO:0005518), growth factor activity (GO:0008083), superoxide-generating NADPH oxidase activator activity (GO:0016176), chemoattractant activity (GO:0042056), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), platelet-derived growth factor binding (GO:0048407), protein binding (GO:0005515), receptor ligand activity (GO:0048018)

GO Cellular Component (10): Golgi membrane (GO:0000139), extracellular region (GO:0005576), cytoplasm (GO:0005737), endoplasmic reticulum lumen (GO:0005788), Golgi lumen (GO:0005796), cell surface (GO:0009986), basolateral plasma membrane (GO:0016323), extracellular matrix (GO:0031012), platelet alpha granule lumen (GO:0031093), membrane (GO:0016020)

Reactome top-level categories

15 top-level categories:

Category	Pathways
Signal Transduction	2
Response to elevated platelet cytosolic Ca2+	1
Intracellular signaling by second messengers	1
Signaling by PDGF	1
Signaling by Receptor Tyrosine Kinases	1
PI3K/AKT Signaling in Cancer	1
Extracellular matrix organization	1
MAPK1/MAPK3 signaling	1
Negative regulation of the PI3K/AKT network	1
PIP3 activates AKT signaling	1
Diseases of signal transduction by growth factor receptors and second messengers	1
Disease	1
MAPK family signaling cascades	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

showing 60 of 70 GO namespaces:

Category	Terms
cellular anatomical structure	4
gene expression	2
regulation of gene expression	2
intracellular anatomical structure	2
signal transduction	2
receptor ligand activity	2
protein dimerization activity	2
Golgi apparatus	2
intracellular organelle lumen	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
in utero embryonic development	1
placenta development	1
embryonic organ development	1
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
positive regulation of epithelial cell proliferation	1
leukocyte chemotaxis	1
mononuclear cell migration	1
myeloid leukocyte migration	1
regulation of glomerular filtration	1
glomerular filtration	1
positive regulation of multicellular organismal process	1
phosphorylation	1
protein modification process	1
animal organ development	1
circulatory system development	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
response to stress	1
macromolecule biosynthetic process	1
phosphatidylinositol biosynthetic process	1
regulation of phosphatidylinositol biosynthetic process	1
negative regulation of phospholipid biosynthetic process	1
regulation of platelet activation	1
platelet activation	1
negative regulation of blood coagulation	1
negative regulation of cell activation	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
regulation of cell-substrate adhesion	1
cell-substrate adhesion	1
positive regulation of cell adhesion	1
muscle adaptation	1
smooth muscle cell migration	1
regulation of smooth muscle cell migration	1
positive regulation of cell migration	1
protein phosphorylation	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
growth factor receptor binding	1
protein-containing complex binding	1
enzyme activator activity	1
superoxide-generating NADPH oxidase activity	1
positive chemotaxis	1
protein binding	1
identical protein binding	1
growth factor binding	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 56 of 82 annotations. The rest are phylogenetic / computational / electronic (IEA).

56 experimentally-supported GO terms:

GO term	NS	Evidence
cell chemotaxis	BP	direct assay
cellular response to growth factor stimulus	BP	direct assay
cellular response to platelet-derived growth factor stimulus	BP	direct assay
gene expression	BP	direct assay
interleukin-18-mediated signaling pathway	BP	direct assay
intracellular signal transduction	BP	mutant phenotype
monocyte chemotaxis	BP	direct assay
negative regulation of DNA-templated transcription	BP	direct assay
negative regulation of gene expression	BP	direct assay
negative regulation of miRNA transcription	BP	direct assay
negative regulation of phosphatidylinositol biosynthetic process	BP	direct assay
negative regulation of platelet activation	BP	direct assay
negative regulation of vascular associated smooth muscle cell differentiation	BP	direct assay
peptidyl-tyrosine phosphorylation	BP	direct assay
platelet-derived growth factor receptor signaling pathway	BP	direct assay
positive regulation of DNA biosynthetic process	BP	direct assay
positive regulation of DNA-templated transcription	BP	direct assay
positive regulation of ERK1 and ERK2 cascade	BP	direct assay
positive regulation of MAP kinase activity	BP	direct assay
positive regulation of MAPK cascade	BP	direct assay
positive regulation of blood vessel endothelial cell migration	BP	direct assay
positive regulation of calcium ion import	BP	direct assay
positive regulation of cell migration	BP	direct assay
positive regulation of cell population proliferation	BP	direct assay
positive regulation of cell-substrate adhesion	BP	direct assay
positive regulation of chemotaxis	BP	direct assay
positive regulation of endothelial cell proliferation	BP	direct assay
positive regulation of fibroblast proliferation	BP	direct assay
positive regulation of gene expression	BP	direct assay
positive regulation of glomerular mesangial cell proliferation	BP	direct assay
positive regulation of hyaluronan biosynthetic process	BP	direct assay
positive regulation of metanephric mesenchymal cell migration	BP	direct assay
positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	BP	direct assay
positive regulation of miRNA transcription	BP	direct assay
positive regulation of mitotic nuclear division	BP	direct assay
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	BP	direct assay
positive regulation of reactive oxygen species metabolic process	BP	direct assay
positive regulation of smooth muscle cell migration	BP	direct assay
positive regulation of smooth muscle cell proliferation	BP	direct assay
positive regulation of vascular associated smooth muscle cell dedifferentiation	BP	direct assay
positive regulation of vascular associated smooth muscle cell migration	BP	direct assay
positive regulation of vascular associated smooth muscle cell proliferation	BP	direct assay
protein phosphorylation	BP	direct assay
reactive oxygen species metabolic process	BP	mutant phenotype
response to wounding	BP	direct assay
cell surface	CC	direct assay
extracellular matrix	CC	high-throughput assay
chemoattractant activity	MF	direct assay
collagen binding	MF	direct assay
growth factor activity	MF	direct assay
identical protein binding	MF	physical interaction
platelet-derived growth factor binding	MF	physical interaction
platelet-derived growth factor receptor binding	MF	direct assay
protein heterodimerization activity	MF	physical interaction
protein homodimerization activity	MF	direct assay
superoxide-generating NADPH oxidase activator activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 2,062 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PDGFB	PDGFRB	P09619	919
PDGFB	PDGFC	Q9NRA1	835
PDGFB	PDGFRA	P16234	828
PDGFB	PDGFD	Q9GZP0	807
PDGFB	FGF2	P09038	798
PDGFB	TGFB1	P01137	763
PDGFB	COL1A1	P02452	733
PDGFB	FGF13	Q92913	724
PDGFB	ANGPT2	O15123	660
PDGFB	SLC20A2	Q08357	652
PDGFB	DLL4	Q9NR61	646
PDGFB	AKT1	P31749	646
PDGFB	MYORG	Q6NSJ0	644
PDGFB	PIK3CG	P48736	643
PDGFB	PDAP1	Q13442	642

IntAct

Human interaction partners of PDGFB in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

7 partners by confidence:

Partner	Interaction type	MIscore	Records
PDGFRB	physical association	0.900	16
PDGFRA	physical association	0.730	12
BCCIP	physical association	0.560	3
DKC1	association	0.530	2
MDFI	physical association	0.490	2
PDGFA	direct interaction	0.440	1
VEGFA	physical association	0.400	2

BioGRID (140 interactions; top human partners by supporting records): PDGFRA (Reconstituted Complex; 3 records), PDGFRB (Affinity Capture-Western; 3 records), BMS1 (Affinity Capture-MS; 2 records), BRIX1 (Affinity Capture-MS; 2 records), C1QBP (Affinity Capture-MS; 2 records), CEBPZ (Affinity Capture-MS; 2 records), COL1A1 (Reconstituted Complex; 2 records), COL1A2 (Reconstituted Complex; 2 records), COL2A1 (Reconstituted Complex; 2 records), COL3A1 (Reconstituted Complex; 2 records), COL4A1 (Reconstituted Complex; 2 records), COL5A1 (Reconstituted Complex; 2 records), COL6A1 (Reconstituted Complex; 2 records), DDX54 (Affinity Capture-MS; 2 records), DKC1 (Affinity Capture-MS; 2 records)

SIGNOR signaling

2 signaling interactions:

A	Effect	B	Mechanism
PDGFB	“up-regulates activity”	PDGFRA	binding
PDGFB	up-regulates	PDGFRB	binding

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
★ PDGFB-PDGFRB complex	2	PDGFB, PDGFRB

Ligand–receptor pairs (CellPhoneDB) (3)

Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.

3 ligand–receptor pairs:

Partner	This gene’s role	Signaling class
PDGFRA;PDGFRB	ligand	Signaling by Platelet-derived growth factor
PDGFRB	ligand	Signaling by Platelet-derived growth factor
PDGFRA	ligand	Signaling by Platelet-derived growth factor

Disease & clinical

Genetic variants

Variant evidence for PDGFB: 223 ClinVar records (29 pathogenic / likely pathogenic); 2 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

223 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	16
Likely pathogenic	13
Uncertain significance	88
Likely benign	61
Benign	27

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 29 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
75243	NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	7
75237	NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter)	Pathogenic	criteria provided, single submitter	2
379331	NM_002608.4(PDGFB):c.2T>G (p.Met1Arg)	Pathogenic	criteria provided, single submitter	1
1320974	NM_002608.4(PDGFB):c.457-2A>G	Pathogenic	criteria provided, single submitter	1
1384828	NM_002608.4(PDGFB):c.18_19dup (p.Leu7fs)	Pathogenic	criteria provided, single submitter	1
2014034	NM_002608.4(PDGFB):c.512del (p.Thr171fs)	Pathogenic	criteria provided, single submitter	1
2030849	NM_002608.4(PDGFB):c.589C>T (p.Gln197Ter)	Pathogenic	criteria provided, single submitter	1
2874449	NM_002608.4(PDGFB):c.385C>T (p.Arg129Cys)	Pathogenic	criteria provided, single submitter	1
4710847	NM_002608.4(PDGFB):c.33_34del (p.Cys12fs)	Pathogenic	criteria provided, single submitter	1
4729161	NM_002608.4(PDGFB):c.107_110del (p.His36fs)	Pathogenic	criteria provided, single submitter	1
4819278	NM_002608.4(PDGFB):c.64-50_160+533del	Pathogenic	criteria provided, single submitter	1
809371	NM_002608.4(PDGFB):c.457-1G>C	Likely pathogenic	criteria provided, single submitter	1
976390	NM_002608.4(PDGFB):c.1A>G (p.Met1Val)	Likely pathogenic	criteria provided, single submitter	1
988462	NM_002608.4(PDGFB):c.512C>T (p.Thr171Met)	Likely pathogenic	criteria provided, single submitter	1
2505942	NM_002608.4(PDGFB):c.724T>C (p.Ter242Gln)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore PDGFB’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 30 predictions of 661):

Position(s)	Effect	Δscore	Sites
22:39225709	donor_gain	1.0000
22:39225848–39225849	acceptor_loss	1.0000	6
22:39225854	acceptor_gain	1.0000
22:39230082–39230083	donor_loss	1.0000	5
22:39230229	acceptor_loss	1.0000
22:39231621	donor_loss	1.0000	3
22:39231828	acceptor_gain	1.0000
22:39231828–39231829	acceptor_loss	1.0000	5
22:39233433–39233434	donor_loss	1.0000	5
22:39233525	acceptor_loss	1.0000	2

AlphaMissense

412 missense substitutions predicted likely pathogenic (of 1,549 scored), across 105 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
H175	8	0.963	0.988
D112	8	0.915	0.959
D174	8	0.902	0.984
C97	7	0.995	0.999
C141	7	0.995	0.999
C130	7	0.994	0.998
C178	7	0.994	0.998
C124	7	0.993	0.996
C134	7	0.992	0.997
C180	7	0.988	0.997
C133	7	0.986	0.994
F118	7	0.983	0.997
W121	7	0.943	0.995
E126	7	0.901	0.949
F104	7	0.891	0.976
F226	7	0.850	0.957
D23	7	0.674	0.802
P122	6	0.992	0.997
G132	6	0.982	0.998
R100	6	0.932	0.995

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	4.9e-09
Kidney Renal Clear Cell Carcinoma (validation)	favorable	3.72e-05
Lung Adenocarcinoma (validation)	unfavorable	0.000981

Disease associations

OMIM: gene MIM:190040 | disease phenotypes: MIM:607907, MIM:615483

GenCC curated gene-disease

3 curated gene-disease records:

Disease	Classification	Inheritance	Records
basal ganglia calcification, idiopathic, 5	Strong	Autosomal dominant	4
bilateral striopallidodentate calcinosis	Supportive	Autosomal dominant
familial meningioma	Limited	Autosomal dominant	2

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (10 panels, 10 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

10 panels:

Panel	Rating
Adult-onset neurological disorders	green
Dystonia, chorea or related movement disorder, adult onset	green
Dystonia, chorea or related movement disorder, childhood onset	green
Intracerebral calcification disorders	green
Leukodystrophy, childhood onset	green
Neurodegenerative disorders, adult onset	green
Paediatric disorders	green
Parkinson Disease and Complex Parkinsonism	green
Structural basal ganglia disorders	green
White matter disorders and cerebral calcification - childhood onset	green

Mondo (5): meningioma (MONDO:0016642), dermatofibrosarcoma protuberans (MONDO:0011934), basal ganglia calcification, idiopathic, 5 (MONDO:0014204), familial meningioma (MONDO:0011789), bilateral striopallidodentate calcinosis (MONDO:0008947)

Orphanet (3): Meningioma (Orphanet:2495), Dermatofibrosarcoma protuberans (Orphanet:31112), Bilateral striopallidodentate calcinosis (Orphanet:1980)

HPO phenotypes

showing 60 of 142 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000012	Urinary urgency
HP:0000020	Urinary incontinence
HP:0000044	Hypogonadotropic hypogonadism
HP:0000141	Amenorrhea
HP:0000238	Hydrocephalus
HP:0000298	Mask-like facies
HP:0000360	Tinnitus
HP:0000520	Proptosis
HP:0000602	Ophthalmoplegia
HP:0000618	Blindness
HP:0000709	Psychosis
HP:0000712	Emotional lability
HP:0000716	Depression
HP:0000726	Dementia
HP:0000739	Anxiety
HP:0000741	Apathy
HP:0000751	Personality changes
HP:0000802	Impotence
HP:0000822	Hypertension
HP:0000870	Increased circulating prolactin concentration
HP:0001067	Neurofibroma
HP:0001072	Thickened skin
HP:0001085	Papilledema
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001260	Dysarthria
HP:0001262	Excessive daytime somnolence
HP:0001263	Global developmental delay
HP:0001266	Choreoathetosis
HP:0001268	Mental deterioration
HP:0001269	Hemiparesis
HP:0001279	Syncope
HP:0001288	Gait disturbance
HP:0001300	Parkinsonism
HP:0001317	Abnormal cerebellum morphology
HP:0001332	Dystonia
HP:0001337	Tremor
HP:0001342	Cerebral hemorrhage
HP:0001347	Hyperreflexia
HP:0001350	Slurred speech
HP:0001482	Subcutaneous nodule
HP:0001513	Obesity
HP:0002015	Dysphagia
HP:0002017	Nausea and vomiting
HP:0002063	Rigidity
HP:0002067	Bradykinesia
HP:0002072	Chorea
HP:0002075	Dysdiadochokinesis
HP:0002076	Migraine
HP:0002135	Basal ganglia calcification
HP:0002167	Abnormal speech pattern
HP:0002172	Postural instability
HP:0002174	Postural tremor
HP:0002305	Athetosis
HP:0002312	Clumsiness
HP:0002315	Headache
HP:0002317	Unsteady gait
HP:0002321	Vertigo
HP:0002344	Progressive neurologic deterioration

GWAS associations

2 associations:

Study	Trait	p-value
GCST005581_20	Primary biliary cirrhosis	1e-13
GCST003129_13	Primary biliary cholangitis	2e-11

MeSH disease descriptors

4 disease descriptors:

Descriptor	Name	Tree numbers
D018223	Dermatofibrosarcoma	C04.557.450.565.590.350.320; C04.557.450.795.350.320
D008579	Meningioma	C04.557.580.520; C04.557.645.520; C04.588.614.250.580.500; C10.551.240.500.500
C536275	Fahr’s disease *(supp.)*
C537443	Meningioma, familial *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3108633 (SINGLE PROTEIN)

Drugs by curated mechanism of action (ChEMBL)

Drugs whose curated ChEMBL mechanism of action targets the PDGFB protein itself — single-protein targets only (drugs acting on a protein family or complex that merely includes it are excluded). Includes antibodies and oligonucleotides that bioactivity screening does not capture.

1 curated-mechanism drugs:

Drug	Modality	Max phase
PEGPLERANIB SODIUM	Unknown	3

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

227 measured of 232 human assays (233 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
3-[(Z)-2-fluoro-2-{5-[(1-methylpiperidin-4-yl)amino]pyridin-3-yl}ethenyl]-N-[(1S,2S)-2-hydroxycyclohexyl]-4-methylbenzamide	IC50	1 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-[(1R,2S)-2-hydroxycyclohexyl]-N’-[4-methyl-3-({[5-(pyrimidin-2-yl)pyridin-3-yl]amino}methyl)phenyl]urea	IC50	2.6 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-[(2-cyclopropylethyl)amino]-N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)-1,3-thiazole-5-carboxamide	IC50	4.6 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
5-(cyclopropylamino)-N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)pyridine-3-carboxamide	IC50	4.9 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-(2-amino-7,8-dihydropyrido[4,3-d]pyrimidin-6(5H)-yl)-N-[(1S,2S)-1,3-dihydroxy-1-phenylpropan-2-yl]-4-methylbenzamide	IC50	5 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
4-fluoro-3-[(Z)-2-fluoro-2-{5-[(oxan-4-yl)amino]pyridin-3-yl}ethenyl]-N-[(1S,2S)-2-hydroxycyclohexyl]benzamide	IC50	5.1 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-[([2,3’-bipyridin]-5’-yl)ethynyl]-N-[(1S,2S)-2-hydroxycyclohexyl]-4-methylbenzamide	IC50	5.4 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-(cyclopropylamino)-N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)-1,3-thiazole-5-carboxamide	IC50	5.9 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-[(Z)-2-fluoro-2-(imidazo[1,2-b]pyridazin-3-yl)ethenyl]-N-[(1S,2S)-2-hydroxycyclohexyl]-4-methylbenzamide	IC50	5.9 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-[(cyclopropylmethyl)amino]-N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)-1,3-thiazole-5-carboxamide	IC50	6 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)-2-phenyl-1,3-oxazole-5-carboxamide	IC50	6.1 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-[(1S,2S)-2-hydroxycyclohexyl]-4-methyl-3-{[5-(pyrimidin-2-yl)pyridin-3-yl]ethynyl}benzamide	IC50	6.5 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-[(Z)-2-(5-{[2-(dimethylamino)ethyl]amino}pyridin-3-yl)-2-fluoroethenyl]-N-[(1S,2S)-2-hydroxycyclohexyl]-4-methylbenzamide	IC50	7.2 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)-2-[(propan-2-yl)amino]-1,3-thiazole-5-carboxamide	IC50	8.3 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-[4-[(3-ethylphenyl)carbamoylamino]phenyl]indole-1-carboxamide	IC50	10 nM	US-9353093: Indole-1-carboxamides as kinase inhibitors
methyl 1-carbamoyl-2-[4-[(3-methylphenyl)carbamoylamino]phenyl]indole-6-carboxylate	IC50	10 nM	US-9353093: Indole-1-carboxamides as kinase inhibitors
3-({6-[(cyclopropylmethyl)amino]pyrazin-2-yl}ethynyl)-N-[(1S,2S)-2-hydroxycyclohexyl]-4-methylbenzamide	IC50	10 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-[4-[(4-methylphenyl)carbamoylamino]phenyl]indole-1-carboxamide	IC50	11 nM	US-9353093: Indole-1-carboxamides as kinase inhibitors
5-[(E)-2-cyclopropylethenyl]-N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)pyridine-3-carboxamide	IC50	11 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-[4-[(3-methoxyphenyl)carbamoylamino]phenyl]indole-1-carboxamide	IC50	12 nM	US-9353093: Indole-1-carboxamides as kinase inhibitors
N-(5-{[(1S)-2-hydroxy-1-phenylethyl]carbamoyl}-2-methylphenyl)-5-phenylpyridine-3-carboxamide	IC50	12 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)-5-[(1-methylcyclopropyl)methoxy]pyridine-3-carboxamide	IC50	12 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
4-chloro-N-[(1S,2S)-2-hydroxycyclohexyl]-3-[(5-phenylpyridin-3-yl)ethynyl]benzamide	IC50	12 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
5-(4-fluorophenyl)-N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)pyridine-3-carboxamide	IC50	13 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
5-(3-fluorophenyl)-N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)pyridine-3-carboxamide	IC50	13 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-({[5-(4-aminophenyl)pyridin-3-yl]methyl}amino)-N-[(1S,2S)-2-hydroxycyclohexyl]-4-methylbenzamide	IC50	13 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-[4-[(3-methylphenyl)carbamoylamino]phenyl]indole-1-carboxamide	IC50	14 nM	US-9353093: Indole-1-carboxamides as kinase inhibitors
N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)-5-[3-(trifluoromethyl)phenyl]pyridine-3-carboxamide	IC50	14 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
5-{(Z)-2-[5-(cyclopropylmethoxy)pyridin-3-yl]-2-fluoroethenyl}-N-[(1S,2S)-2-hydroxycyclohexyl]-6-methylpyridine-3-carboxamide	IC50	14 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)imidazo[2,1-b][1,3]thiazole-5-carboxamide	IC50	15 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-[(1S,2S)-2-hydroxycyclohexyl]-4-methyl-3-{[5-(pyrazin-2-yl)pyridin-3-yl]ethynyl}benzamide	IC50	15 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-[(1S,2S)-2-hydroxycyclohexyl]-4-methyl-3-[(6-phenylpyrazin-2-yl)ethynyl]benzamide	IC50	15 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-[(Z)-2-([2,3’-bipyridin]-5’-yl)-2-fluoroethenyl]-4-fluoro-N-[(1S,2S)-2-hydroxycyclohexyl]benzamide	IC50	15 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-[4-[(3-propan-2-ylphenyl)carbamoylamino]phenyl]indole-1-carboxamide	IC50	16 nM	US-9353093: Indole-1-carboxamides as kinase inhibitors
N-[(1S,2S)-2-hydroxycyclohexyl]-3-{[(6-{[(1r,3r)-3-methoxycyclobutane-1-carbonyl]amino}pyridin-3-yl)methyl]amino}-4-methylbenzamide	IC50	16 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-{[([2,3’-bipyridin]-5’-yl)amino]methyl}-N-[(1S,2S)-2-hydroxycyclohexyl]-4-methylbenzamide	IC50	16 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-[4-fluoro-3-({[5-(pyrimidin-2-yl)pyridin-3-yl]amino}methyl)phenyl]-N’-[(1R,2S)-2-hydroxycyclohexyl]urea	IC50	16 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
5-[(Z)-2-([2,3’-bipyridin]-5’-yl)-2-fluoroethenyl]-N-[(1S,2S)-2-hydroxycyclohexyl]-6-methylpyridine-3-carboxamide	IC50	16 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-[(Z)-2-fluoro-2-{5-[(4-methylpiperazin-1-yl)methyl]pyridin-3-yl}ethenyl]-N-[(1S,2S)-2-hydroxy-2,3-dihydro-1H-inden-1-yl]-4-methylbenzamide	IC50	16 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
5-(3-chlorophenyl)-N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)pyridine-3-carboxamide	IC50	17 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-[(1S,2S)-2-hydroxycyclohexyl]-4-methyl-3-{[(6-{[(pyridin-3-yl)carbamoyl]amino}pyridin-3-yl)methyl]amino}benzamide	IC50	17 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-[4-[(3-chloro-4-fluorophenyl)carbamoylamino]phenyl]indole-1-carboxamide	IC50	19 nM	US-9353093: Indole-1-carboxamides as kinase inhibitors
5-(2-fluoro-4-methoxyphenyl)-N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)pyridine-3-carboxamide	IC50	19 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-(5-{[(1S,2S)-2-hydroxycyclohexyl]carbamoyl}-2-methylphenyl)-5-[3-(trifluoromethoxy)phenyl]pyridine-3-carboxamide	IC50	19 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
N-[(1S,2S)-2-hydroxycyclohexyl]-4-methyl-3-{[(1S)-1-(5-phenylpyridin-3-yl)ethyl]amino}benzamide	IC50	19 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
5-[(Z)-2-fluoro-2-{5-[(oxetan-3-yl)amino]pyridin-3-yl}ethenyl]-N-[(1S,2S)-2-hydroxycyclohexyl]-6-methylpyridine-3-carboxamide	IC50	19 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
2-[4-[(2-fluoro-5-methylphenyl)carbamoylamino]phenyl]indole-1-carboxamide	IC50	20 nM	US-9353093: Indole-1-carboxamides as kinase inhibitors
3-{[6-(3-fluorophenyl)pyrazin-2-yl]ethynyl}-N-[(1S,2S)-2-hydroxycyclohexyl]-4-methylbenzamide	IC50	20 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-[({6-[(cyclopropanecarbonyl)amino]pyridin-3-yl}methyl)amino]-N-[(1S,2S)-2-hydroxycyclohexyl]-4-methylbenzamide	IC50	20 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor
3-[(Z)-2-(2-amino-4-methylpyrimidin-5-yl)-2-fluoroethenyl]-4-fluoro-N-[(1S,2S)-2-hydroxycyclohexyl]benzamide	IC50	21 nM	US-12509424: Compound and composition as PDGF receptor kinase inhibitor

CTD chemical–gene interactions

142 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	increases activity, decreases activity, decreases response to substance, affects cotreatment, decreases reaction (+5 more)	5
Estradiol	decreases expression, increases reaction, affects cotreatment, affects binding, decreases secretion (+1 more)	5
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression, increases secretion	4
Lipopolysaccharides	increases reaction, increases secretion, decreases reaction, affects cotreatment, increases expression	4
Particulate Matter	decreases expression, increases abundance, affects expression, affects binding, decreases reaction	4
6,7-dimethoxy-2-phenylquinoxaline	increases expression, increases secretion, increases phosphorylation, affects binding, decreases response to substance (+1 more)	3
Phenytoin	increases expression	3
Cyclosporine	affects cotreatment, decreases expression, affects binding, decreases reaction, increases expression	3
lipoxin A4	affects reaction, increases phosphorylation, decreases phosphorylation, increases reaction	2
mercuric bromide	increases expression, affects cotreatment	2
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	increases reaction, decreases reaction, increases activity, increases phosphorylation, affects binding (+1 more)	2
SB 203580	decreases response to substance, affects cotreatment, decreases reaction, increases secretion, affects binding	2
U 0126	decreases response to substance, decreases reaction, increases activity, increases phosphorylation, increases reaction (+1 more)	2
Vehicle Emissions	increases secretion, affects binding, decreases reaction	2
Mevalonic Acid	increases secretion, decreases activity, affects cotreatment, decreases reaction	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Progesterone	affects cotreatment, decreases expression	2
Tetradecanoylphorbol Acetate	decreases reaction, increases expression	2
Reactive Oxygen Species	affects binding, decreases reaction, increases abundance	2
Cadmium Chloride	decreases expression, decreases reaction, increases abundance	2
Simvastatin	affects cotreatment, decreases reaction, increases expression, increases secretion, decreases activity	2
aristolochic acid I	increases expression	1
ON123300	affects reaction, increases phosphorylation, decreases reaction, affects binding	1
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate	affects cotreatment, affects expression	1
aminomethylphosphonic acid (AMPA)	increases expression	1
TL8-506	affects cotreatment, increases expression	1
geranylgeranyl pyrophosphate	decreases reaction, increases expression, increases secretion, affects cotreatment	1
taxifolin	decreases expression	1
bufotalin	decreases reaction, increases expression	1
methylmercuric chloride	increases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4398804	Binding	Inhibition of PDGFRbeta (unknown origin) at 100 nM relative to control	Discovery of Potent and Noncovalent Reversible EGFR Kinase Inhibitors of EGFRL858R/T790M/C797S. — *ACS Med Chem Lett*

Cellosaurus cell lines

11 cell lines: 8 cancer cell line, 3 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0F39	SV7tert PDGF	Transformed cell line	Female
CVCL_0F40	SV7tert PDGFtu2	Transformed cell line	Female
CVCL_B8M8	Abcam HCT 116 PDGFB KO	Cancer cell line	Male
CVCL_B9A3	Abcam MCF-7 PDGFB KO	Cancer cell line	Female
CVCL_B9PF	Abcam A-549 PDGFB KO	Cancer cell line	Male
CVCL_C573	SV7tert PDGFtu1	Transformed cell line	Female
CVCL_D4A8	MDFSP-S1	Cancer cell line	Female
CVCL_D4ZK	NCC-DFSP5-C1	Cancer cell line	Male
CVCL_UR53	NCC-DFSP1-C1	Cancer cell line	Male
CVCL_UR54	NCC-DFSP2-C1	Cancer cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 148 trials:

NCT	Phase	Status	Title
NCT04081701	Phase 4	RECRUITING	68-Ga DOTATATE PET/MRI in the Diagnosis and Management of Somatostatin Receptor Positive CNS Tumors.
NCT04386642	Phase 4	UNKNOWN	Tranexamic Acid Reduce Blood Loss in Meningioma Resection
NCT06377371	Phase 4	RECRUITING	Feasibility of Intraoperative Tracing of Meningioma Using [Cu64]DOTATATE
NCT00517959	Phase 3	UNKNOWN	SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors
NCT01655927	Phase 3	UNKNOWN	Efficacy of Tranexamic Acid in Brain Tumor Resections
NCT03015701	Phase 3	COMPLETED	S9005 Mifepristone in Meningioma
NCT03558516	Phase 3	COMPLETED	Magnesium and Intraoperative Blood Loss in Meningioma Surgery
NCT04305470	Phase 3	COMPLETED	Gleolan for Visualization of Newly Diagnosed or Recurrent Meningioma
NCT00346164	Phase 3	COMPLETED	Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma
NCT00003483	Phase 2	TERMINATED	Antineoplaston Therapy in Treating Patients With Meningioma
NCT00589784	Phase 2	COMPLETED	Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma
NCT00706810	Phase 2	COMPLETED	Combination of Hydroxyurea and Verapamil for Refractory Meningiomas
NCT00859040	Phase 2	COMPLETED	Monthly SOM230C for Recurrent or Progressive Meningioma
NCT01967823	Phase 2	COMPLETED	T Cell Receptor Immunotherapy Targeting NY-ESO-1 for Patients With NY-ESO-1 Expressing Cancer
NCT02523014	Phase 2	RECRUITING	Vismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas
NCT02648997	Phase 2	ACTIVE_NOT_RECRUITING	An Open-Label Phase II Study of Nivolumab or Nivolumab/Ipilimumab in Adult Participants With Progessive/ Recurrent Meningioma
NCT02831257	Phase 2	COMPLETED	AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas
NCT02847559	Phase 2	COMPLETED	Optune Delivered Electric Field Therapy and Bevacizumab in Treating Patients With Recurrent or Progressive Grade 2 or 3 Meningioma
NCT03013387	Phase 2	WITHDRAWN	Dosimetry Guided PRRT With 90Y-DOTATOC
NCT03071874	Phase 2	ACTIVE_NOT_RECRUITING	Vistusertib (AZD2014) For Recurrent Grade II-III Meningiomas
NCT03095248	Phase 2	TERMINATED	Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors
NCT03273712	Phase 2	COMPLETED	Dosimetry-Guided, Peptide Receptor Radiotherapy (PRRT) With 90Y-DOTA- tyr3-Octreotide (90Y-DOTATOC)
NCT03971461	Phase 2	ACTIVE_NOT_RECRUITING	Phase II Study of 177Lu-DOTATATE Radionuclide in Adults With Progressive or High-risk Meningioma
NCT04082520	Phase 2	RECRUITING	Lutathera for the Treatment of Inoperable, Progressive Meningioma After External Beam Radiation Therapy
NCT04298541	Phase 2	WITHDRAWN	Direct Comparison of Ga-68-DOTATATE and Ga-68-DOTATOC
NCT04374305	Phase 2	RECRUITING	Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2)
NCT04659811	Phase 2	ACTIVE_NOT_RECRUITING	Stereotactic Radiosurgery and Immunotherapy (Pembrolizumab) for the Treatment of Recurrent Meningioma
NCT05425004	Phase 2	RECRUITING	Cabozantinib for Patients With Recurrent or Progressive Meningioma
NCT05940493	Phase 2	RECRUITING	Abemaciclib in Newly Diagnosed Meningioma Patients
NCT06012929	Phase 2	WITHDRAWN	A Study of ONC201 for Refractory Meningioma
NCT06126588	Phase 2	RECRUITING	Combination of Everolimus and 177Lu-DOTATATE in the Treatment of Grades 2 and 3 Refractory Meningioma: a Phase IIb Clinical Trial
NCT06132685	Phase 2	RECRUITING	Post-Operative Dosing of Dexamethasone in Patients With Brain Tumors After a Craniotomy, PODS Trial
NCT06322342	Phase 2	COMPLETED	Phase 2 Ascending Dose Safety and Efficacy Study of RVP-001, a Manganese-based MRI Contrast Agent
NCT06326190	Phase 2	RECRUITING	177Lu-DOTATATE for Recurrent Meningioma
NCT06439420	Phase 2	COMPLETED	CBT-I in Primary Brain Tumor Patients: Phase IIc Randomized Feasibility Pilot Trial
NCT06684795	Phase 2	UNKNOWN	FG001 in Subjects with Meningiomas or Presumed Low-Grade Gliomas Scheduled for Neurosurgery
NCT06710249	Phase 2	RECRUITING	Impact of Salovum® and SPC® Flakes on Brain Tumor Induced Edema
NCT06804655	Phase 2	RECRUITING	Pharmacoscopy for Patients With Refractory Primary Brain Tumors
NCT07428616	Phase 2	RECRUITING	A Study of Zanzalintinib in Participants With Recurrent or Progressive Meningioma
NCT07533942	Phase 2	RECRUITING	A Study of JZP3507 (ONC206) in Recurrent Grade 2 or 3 Meningioma
NCT07707947	Phase 2	NOT_YET_RECRUITING	Selumetinib for NF2-Related Schwannomatosis
NCT07713745	Phase 2	NOT_YET_RECRUITING	Platform Research for Innovative Medicines in NF2-SWN (PRIME-NF2)
NCT05662111	Phase 2	RECRUITING	Treatment of Ectopic Calcification in Fahr’s Disease or Syndrome
NCT00084630	Phase 2	COMPLETED	Imatinib Mesylate in Treating Patients With Locally Recurrent or Metastatic Dermatofibrosarcoma Protuberans
NCT00171912	Phase 2	COMPLETED	Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes
NCT00243191	Phase 2	COMPLETED	Neoadjuvant Imatinib in Dermatofibrosarcoma Protuberans
NCT00659360	Phase 2	COMPLETED	AZD0530 in Treating Patients With Recurrent Locally Advanced or Metastatic Soft Tissue Sarcoma
NCT07646080	Phase 2	NOT_YET_RECRUITING	Exploratory Study on Toripalimab and Anlotinib Combined With Standard Chemotherapy for Refractory Dermatofibrosarcoma Protuberans
NCT03267836	Phase 1	TERMINATED	Neoadjuvant Avelumab and Hypofractionated Proton Radiation Therapy Followed by Surgery for Recurrent Radiation-refractory Meningioma
NCT03631953	Phase 1	UNKNOWN	Combination of Alpelisib and Trametinib in Progressive Refractory Meningiomas
NCT03953131	Phase 1	COMPLETED	Gallium Ga 68-DOTATATE PET/CT in Predicting Tumor Growth in Patients With Meningiomas
NCT06014905	Phase 1	RECRUITING	Feasibility of Acquiring Hyperpolarized Imaging in Patients With Meningioma
NCT06650163	Phase 1	RECRUITING	Zr-89 Crefmirlimab Berdoxam and Immuno-Positron Emission Tomography for the Imaging of Patients With Resectable Brain Tumors
NCT07353229	Phase 1	SUSPENDED	68Ga-Dotatate PET and MRI Guided Radiation Dose Escalation for High Risk Meningioma
NCT07652762	Phase 1	RECRUITING	IN10018 in Combination With Dalpiciclib for Progressive Meningiomas
NCT00720174	Phase 1	COMPLETED	Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma
NCT06610071	Phase 1	NOT_YET_RECRUITING	NIFR Image-guided Surgery for Malignant Soft Tissue Tumor With Low-dose SWIG Technique
NCT01117844	Phase 1/2	COMPLETED	Proton Radiation For Meningiomas and Hemangiopericytomas
NCT03604978	Phase 1/2	ACTIVE_NOT_RECRUITING	Nivolumab and Multi-fraction Stereotactic Radiosurgery With or Without Ipilimumab in Treating Patients With Recurrent Grade II-III Meningioma
NCT03936426	Phase 1/2	COMPLETED	Peptide Receptor Radionuclide Therapy Administered to Participants With Meningioma With 67Cu-SARTATE™