BMP2

Summary

BMP2 (bone morphogenetic protein 2, HGNC:1069) is a protein-coding gene on chromosome 20p12.3, encoding Bone morphogenetic protein 2 (P12643). Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis.

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients.

Source: NCBI Gene 650 — RefSeq curated summary.

At a glance

• Gene–disease (curated): short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 94 (top 1% of genes corpus-wide)
• Clinical variants (ClinVar): 278 total — 24 pathogenic, 20 likely-pathogenic
• GTEx eGene: eQTL in 9 tissues, sQTL in 2 (q < 0.05)
• Phenotypes (HPO): 102
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.21 (highly constrained)
• Transcription factor: yes — 20 downstream targets (CollecTRI)
• MANE Select transcript: NM_001200
• Interaction hub: 2,740 STRING partners (top 3% of genes corpus-wide)

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1069
Approved symbol	BMP2
Name	bone morphogenetic protein 2
Location	20p12.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000125845
Ensembl biotype	protein_coding
OMIM	112261
Entrez	650

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

MANE Select: ENST00000378827

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1

ENST00000378827, ENST00000936876, ENST00000953442, ENST00000953443, ENST00001126234, ENST00001132771

RefSeq mRNA: 1 — MANE Select: NM_001200 NM_001200

CCDS: CCDS13099

Canonical transcript exons

ENST00000378827 — 3 exons

Exon	Start	End
ENSE00001478936	6778245	6780246
ENSE00001478945	6770120	6770472
ENSE00001478949	6767686	6768875

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 97.26.

FANTOM5 (CAGE): breadth broad, TPM avg 3.3308 / max 108.5483, expressed in 828 samples.

Highest expression (Bgee): cartilage tissue, pancreatic ductal cell, pigmented layer of retina, mucosa of sigmoid colon, colonic mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

BMP2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 9 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

11 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Whole Blood	eqtl	1.4e-05	-0.31	20:7734236:A:T
Skin Sun Exposed Lower leg	eqtl	4.0e-04	+0.15	20:6669827:A:G
Cells Cultured fibroblasts	eqtl	1.3e-03	-0.16	20:6518553:A:G
Skin Not Sun Exposed Suprapubic	eqtl	1.5e-03	+0.14	20:6669827:A:G
Cells EBV-transformed lymphocytes	eqtl	2.3e-02	+0.23	20:6672177:A:G
Brain Cortex	eqtl	2.4e-02	-0.61	20:7000791:T:A
Thyroid	sqtl	3.7e-02	+0.29	20:6694253:A:G
Lung	eqtl	3.8e-02	-0.12	20:5885358:A:G
Heart Atrial Appendage	eqtl	3.9e-02	-0.77	20:6884615:T:G
Artery Tibial	eqtl	4.4e-02	+0.13	20:6979185:C:T
Bladder	sqtl	4.5e-02	+3.28	20:6079749:G:A

FANTOM5 promoters

6 alternative TSS:

Promoter ID	TPM avg	Samples expressed
183402	2.4683	725
183407	0.3984	177
183405	0.2130	86
183404	0.1026	39
183406	0.0774	36
183403	0.0711	21

Top tissues by expression

showing 100 of 281 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cartilage tissue	UBERON:0002418	97.26	gold quality
pancreatic ductal cell	CL:0002079	96.33	gold quality
pigmented layer of retina	UBERON:0001782	94.47	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.39	gold quality
colonic mucosa	UBERON:0000317	93.20	gold quality
lower lobe of lung	UBERON:0008949	91.80	gold quality
pylorus	UBERON:0001166	90.72	gold quality
periodontal ligament	UBERON:0008266	90.21	gold quality
mucosa of urinary bladder	UBERON:0001259	89.62	gold quality
stromal cell of endometrium	CL:0002255	88.59	gold quality
renal glomerulus	UBERON:0000074	88.52	gold quality
metanephric glomerulus	UBERON:0004736	88.27	gold quality
jejunal mucosa	UBERON:0000399	88.17	gold quality
epithelial cell of pancreas	CL:0000083	86.95	gold quality
cervix squamous epithelium	UBERON:0006922	84.90	silver quality
parietal pleura	UBERON:0002400	84.76	gold quality
mucosa of transverse colon	UBERON:0004991	84.53	gold quality
gall bladder	UBERON:0002110	84.23	gold quality
rectum	UBERON:0001052	84.01	gold quality
lung	UBERON:0002048	83.71	gold quality
germinal epithelium of ovary	UBERON:0001304	83.49	gold quality
pleura	UBERON:0000977	82.34	gold quality
upper lobe of lung	UBERON:0008948	81.98	gold quality
upper lobe of left lung	UBERON:0008952	81.73	gold quality
visceral pleura	UBERON:0002401	80.78	gold quality
urinary bladder	UBERON:0001255	80.64	gold quality
islet of Langerhans	UBERON:0000006	80.58	gold quality
kidney epithelium	UBERON:0004819	79.79	gold quality
nipple	UBERON:0002030	79.60	gold quality
right lung	UBERON:0002167	79.55	gold quality
tibia	UBERON:0000979	79.47	gold quality
transverse colon	UBERON:0001157	79.23	gold quality
metanephros	UBERON:0000081	79.19	gold quality
duodenum	UBERON:0002114	78.98	gold quality
connective tissue	UBERON:0002384	78.71	gold quality
adipose tissue	UBERON:0001013	78.69	gold quality
adipose tissue of abdominal region	UBERON:0007808	78.60	gold quality
thyroid gland	UBERON:0002046	78.47	gold quality
omental fat pad	UBERON:0010414	78.47	gold quality
left lobe of thyroid gland	UBERON:0001120	78.46	gold quality
peritoneum	UBERON:0002358	78.41	gold quality
skin of abdomen	UBERON:0001416	78.28	gold quality
large intestine	UBERON:0000059	78.00	gold quality
body of stomach	UBERON:0001161	77.76	gold quality
colon	UBERON:0001155	77.60	gold quality
zone of skin	UBERON:0000014	77.59	gold quality
stomach	UBERON:0000945	77.56	gold quality
intestine	UBERON:0000160	77.20	gold quality
cardia of stomach	UBERON:0001162	77.11	gold quality
gingiva	UBERON:0001828	77.05	gold quality
subcutaneous adipose tissue	UBERON:0002190	77.05	gold quality
skin of leg	UBERON:0001511	76.46	gold quality
mucosa of paranasal sinus	UBERON:0005030	76.46	silver quality
cervix epithelium	UBERON:0004801	76.40	silver quality
cortex of kidney	UBERON:0001225	76.37	gold quality
fundus of stomach	UBERON:0001160	76.16	gold quality
placenta	UBERON:0001987	76.13	gold quality
trabecular bone tissue	UBERON:0002483	76.12	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.10	gold quality
gingival epithelium	UBERON:0001949	75.88	gold quality
penis	UBERON:0000989	75.67	gold quality
small intestine	UBERON:0002108	75.33	gold quality
small intestine Peyer’s patch	UBERON:0003454	75.24	gold quality
tendon of biceps brachii	UBERON:0008188	75.23	gold quality
spleen	UBERON:0002106	75.17	gold quality
pancreas	UBERON:0001264	75.16	gold quality
vena cava	UBERON:0004087	75.08	silver quality
tongue squamous epithelium	UBERON:0006919	75.07	gold quality
right lobe of thyroid gland	UBERON:0001119	74.57	gold quality
endothelial cell	CL:0000115	74.43	silver quality
nephron tubule	UBERON:0001231	74.35	silver quality
left uterine tube	UBERON:0001303	74.24	gold quality
calcaneal tendon	UBERON:0003701	74.24	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.17	gold quality
left coronary artery	UBERON:0001626	74.16	gold quality
sigmoid colon	UBERON:0001159	73.99	gold quality
skin of hip	UBERON:0001554	73.78	gold quality
vermiform appendix	UBERON:0001154	73.76	gold quality
decidua	UBERON:0002450	73.52	silver quality
coronary artery	UBERON:0001621	73.41	gold quality
tendon	UBERON:0000043	73.29	gold quality
caecum	UBERON:0001153	73.15	gold quality
blood vessel layer	UBERON:0004797	72.91	gold quality
choroid plexus epithelium	UBERON:0003911	72.83	silver quality
squamous epithelium	UBERON:0006914	72.64	silver quality
popliteal artery	UBERON:0002250	72.57	gold quality
tibial artery	UBERON:0007610	72.54	gold quality
uterine cervix	UBERON:0000002	72.40	gold quality
tibial nerve	UBERON:0001323	72.27	gold quality
colonic epithelium	UBERON:0000397	72.24	gold quality
vagina	UBERON:0000996	72.00	gold quality
aorta	UBERON:0000947	71.99	gold quality
smooth muscle tissue	UBERON:0001135	71.66	gold quality
endocervix	UBERON:0000458	71.38	gold quality
ascending aorta	UBERON:0001496	71.30	gold quality
ileal mucosa	UBERON:0000331	71.21	gold quality
thoracic aorta	UBERON:0001515	71.21	gold quality
right coronary artery	UBERON:0001625	71.15	gold quality
ectocervix	UBERON:0012249	71.10	gold quality
body of pancreas	UBERON:0001150	70.98	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.52

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Stomach 1	tissue	19.6
Lung	tissue	17.8
Thyroid gland	tissue	17.7
Adipose tissue	tissue	17.4
Urinary bladder	tissue	16.1
Gallbladder	tissue	15.1
Colon	tissue	14.2
Rectum	tissue	12.8
Spleen	tissue	11.7
Placenta	tissue	10.8
Small intestine	tissue	9.2
Pancreas	tissue	8.6
Vagina	tissue	6.2
Duodenum	tissue	6.2
Liver	tissue	5.5
Esophagus	tissue	5.2
Cervix	tissue	4.9
Endometrium 1	tissue	4.8
Skin 1	tissue	4.4
Appendix	tissue	3.8
Caudate putamen	tissue	3.5
Kidney	tissue	3.2
Parathyroid gland	tissue	3.0
Spinal cord	tissue	3.0
Hippocampus	tissue	2.9
Locus coeruleus	tissue	2.8
Breast	tissue	2.6
Nucleus accumbens	tissue	2.6
Tongue	tissue	2.5
Smooth muscle	tissue	2.4
Choroid plexus	tissue	2.4
Substantia nigra	tissue	2.4
Postcentral gyrus	tissue	2.4
Olfactory bulb	tissue	2.4
Superior colliculi	tissue	2.3
Pituitary gland	tissue	2.2
Thalamus	tissue	2.1
Ovary	tissue	2.0
Hypothalamus	tissue	1.9
Lymph node	tissue	1.8
Pons	tissue	1.8
Frontal cortex	tissue	1.8
Midbrain	tissue	1.8
Medulla oblongata	tissue	1.7
Tonsil	tissue	1.7
Heart muscle	tissue	1.6
Hippocampal formation	tissue	1.6
Entorhinal cortex	tissue	1.6
Septum	tissue	1.6
Prostate	tissue	1.5
Adrenal gland	tissue	1.5
Bone marrow	tissue	1.5
Periaqueductal gray	tissue	1.5
Cerebral cortex	tissue	1.4
Skeletal muscle	tissue	1.4
Motor cortex	tissue	1.4
Putamen	tissue	1.4
Prefrontal cortex	tissue	1.3
Basal ganglia	tissue	1.3
Ventral forebrain	tissue	1.3

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Red nucleus (5.2), Anterior thalamic nucleus, ventral (5.1), Area striata (white matter) (5.0), Blood vessel (5.0), Kolliker-Fuse nucleus (4.8).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

20 targets:

Target	Regulation
APOE	Activation
BGLAP	Activation
CEBPA	Repression
FABP4	Repression
GATA4	Activation
HAMP	Activation
ID1	Activation
ID2	Activation
LEF1	Activation
LPL	Repression
MSX2	Activation
NOTCH1	Activation
OMD	Activation
PPARG	Repression
RUNX2	Activation
SHH	Repression
SP7	Activation
TBX2	Activation
TMEM119	Activation
WWTR1	Activation

Upstream regulators (CollecTRI, top): AIRE, AP1, BARX1, BMP4, BMP5, BMP6, CREB1, CTNNB1, DLX3, DLX5, DNMT1, ENG, ESR1, ESR2, FGF2, FGF9, FOS, FOXA1, FOXC1, FOXL1, GATA3, GATA4, GATA6, GLI2, HAND2, HBP1, HEY1, HNF4A, HOXC8, HOXD13, ID3, JUN, MEF2A, MEF2C, MSX1, NFKB1, NFKB, NFKBIA, NKX2-5, NOTCH1

miRNA regulators (miRDB)

Targeting BMP2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 120 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-548E-5P	99.89	72.73	4486

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.213, missense Z 1.47 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000378827 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
20:6,770,127–6,778,797	363 / 392.8	0.92	no
20:6,778,798–6,779,086	74 / 124.9	0.59	no

Literature-anchored findings (GeneRIF, showing 40)

• The expression signals of BMP-2 mRNA in malignant schwannoma were not lower than in benign lesions (PMID:11642720)
• BMP-2 gene transfection tends to accelerate HPDLFs into osteoblast-like cells. (PMID:11718007)
• promotes chondrogenic differentiation of multipotential mesenchymal cells (PMID:11748585)
• Macrophage cell lines produce osteoinductive signals that include bone morphogenetic protein-2. (PMID:11792561)
• BMP-2 and TGF-beta activate both Ras/MAPK/AP-1 and Smad signaling in osteoblasts with Smads modulating AP-1 activity. (PMID:11854297)
• RT-PCR analysis of human bone marrow stromal cells during osteogenesis in vitro: the mRNA levels of bone morphogenetic protein-2 (BMP-2), bone sialoprotein-II (BSP), osteopontin (OP) and cbfa-1 increased with culture time in osteogenic medium. (PMID:11968014)
• REVIEW:Bone morphogenetic protein (BMP)-2 cell cycle arrest and apoptosis in human myeloma cells. (PMID:12002771)
• Local application of recombinant human BMP2 from coated titanium implants significantly improves fracture healing, biomechanical torsional stability, and callus remodeling in a rat model. (PMID:12052447)
• induces osteocalcin expression in osteoblasts (PMID:12082094)
• BMP2 binds to collagen II at a specific binding domain and has a role in embryo development, organogenesis, and regeneration of damaged tissues (PMID:12126644)
• BMP2 has a role in controlling normal and premature cranial ossification in humans [review] (PMID:12168799)
• rhBMP-2 promotes MSC activity and reverses bone and cartilage loss in osteopenic mice (PMID:12210753)
• BMP2 can recruit progenitors to the cementoblastic lineage and regulate differentiation by inducing and enhancing the expression of cementum attachment protein, a cell lineage-specific regulator. (PMID:12489168)
• BMP-2 inhibits PDGF-stimulated proliferation of HASMCs through induction of p21. p21-mediated induction of cell cycle arrest by BMP-2 may initiate osteogenic differentiation of vascular smooth muscle cells, ultimately leading to vascular mineralization. (PMID:12527559)
• BMP2 and BMP4 differently affect activin A induction of erythropoiesis; follistatin and FLRG proteins downmodulate the effects of activin A and BMP2. (PMID:12531697)
• results show that expression of a dominant negative type II TGFbeta receptor impairs BMP2 signaling in MDA-MB-231 breast cancer cells, resulting in an attenuation of the anti-proliferative effects of BMP2 on these cells (PMID:12535648)
• BMP2 exposure can regulate PTEN protein levels by decreasing PTEN’s association with the degradative pathway (PMID:12620973)
• In pulmonary artery smooth muscle cells from pulmonary hypertension patients, the BMP-2- or BMP-7-induced apoptosis was significantly inhibited compared with PASMCs from patients with secondary pulmonary hypertension. (PMID:12740218)
• expression of the mature BMP-2 protein is disregulated in the majority of NSCLC. BMP-2 enhancement of tumor cell migration and invasion, as well as stimulating tumor growth in vivo, suggests it has important biological activity in lung carcinomas. (PMID:12819188)
• BMP-2 exerts both positive and negative effects on osteoblasts, possibly depending on the differentiation stage and/or the existing BMP signaling (PMID:12854828)
• Results suggest that rHuIL-11 acts synergistically with rHuBMP-2 to more rapidly stimulate bone formation compared with rHuBMP-2 alone. (PMID:12856332)
• Data show that retinoid-induced expression of bone morphogenetic protein-2 is necessary and sufficient for apoptosis of retinoid-responsive cells. (PMID:12872164)
• Study evaluates several aspects of the osteogenic effect of human BMP-2 protein injected into quadriceps of female C57B1/6J SCID mice. (PMID:12919699)
• In cell culture, IL-1beta and TNF-alpha increased BMP-2 mRNA and protein levels by eightfold and fifteenfold, respectively, whereas IGF-1 and TGF-beta1 had no effect. In cartilage explant cultures, IL-1beta and TNF-alpha increased BMP-2 levels. (PMID:12925611)
• brief exposure to recombinant human bone morphogenetic protein-2 (rhBMP-2)is sufficient to induce irreversible commitment to mineralization in dexamethasone-treated osteoblast cultures (PMID:12933820)
• BMP-2 stimulated Placental growth factor secretion from MG63 osteosarcoma and mesenchymal stem cells (PMID:13678785)
• These results indicate that the 73-92 peptide of bone morphogenetic protein-2 (BMP-2) may be a receptor-binding site and may stimulate bone precursor cells to induce calcification. (PMID:14499589)
• BMP-2 and BMP-6 are expressed in arthritic synovium and are strongly up-regulated by proinflammatory cytokines. (PMID:14558086)
• the effect of MGP on calcification and osteogenic differentiation is determined by availability of BMP-2 (PMID:14587031)
• a region on the short arm of Chromosome 20 contains a gene or genes that appear to be a major risk factor for osteoporosis and osteoporotic fractures, including BMP2 (PMID:14691541)
• BMP2 acts as a tumor suppressor promoting apoptosis in mature colonic epithelial cells. (PMID:14699493)
• BMP-2 enhanced the angiogenic response in developing tumors (PMID:15037653)
• Decreased BMP2 expression associated with progression to prostate cancer; loss of BMP2 and Smad4 related to progression to a more aggressive phenotype (PMID:15042598)
• BMP2 or 4 in pilomatricoma is responsible for induction of proalpha(1)(II) collagen mRNA in overlying epidermal cells resulting in deposition of type II collagen in dermo-epidermal junction. (PMID:15102076)
• bone morphogenetic protein 2- and transforming growth factor beta-regulated osteoblastic differentiation requires menin, Smads and Runx2 (PMID:15150273)
• Myogenin protein stability is decreased by BMP-2 through a mechanism implicating Id1. (PMID:15322112)
• The Bmp2 3’ UTR contains essential regulatory elements that act post-transcriptionally (PMID:15358784)
• The expression of tenascin-W is induced by BMP-2 in mammary canacer. (PMID:15592496)
• In the presence of 10 microg rHuBMP-2, muscle-derived mesenchymal cells expressed type II collagen messenger RNA at 4 days after transplantation, and a mature cartilage mass was formed 5 weeks after transplantation in the diffusion chamber. (PMID:15641068)
• BMP-2 upregulates the expression of alphavbeta integrins, and these integrins, in turn, play a critical role in BMP-2 function in osteoblasts (PMID:15647827)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bmp2a	ENSDARG00000013409
danio_rerio	bmp2b	ENSDARG00000041430
mus_musculus	Bmp2	ENSMUSG00000027358
rattus_norvegicus	Bmp2	ENSRNOG00000071010

Paralogs (31): TGFB2 (ENSG00000092969), BMP7 (ENSG00000101144), TGFB1 (ENSG00000105329), BMP5 (ENSG00000112175), BMP8B (ENSG00000116985), TGFB3 (ENSG00000119699), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), GDF5 (ENSG00000125965), GDF1 (ENSG00000130283), BMP15 (ENSG00000130385), GDF15 (ENSG00000130513), GDF11 (ENSG00000135414), MSTN (ENSG00000138379), INHBE (ENSG00000139269), LEFTY2 (ENSG00000143768), GDF7 (ENSG00000143869), BMP3 (ENSG00000152785), BMP6 (ENSG00000153162), GDF6 (ENSG00000156466), NODAL (ENSG00000156574), INHBB (ENSG00000163083), BMP10 (ENSG00000163217), GDF9 (ENSG00000164404), INHBC (ENSG00000175189), BMP8A (ENSG00000183682), GDF3 (ENSG00000184344), LEFTY1 (ENSG00000243709), GDF2 (ENSG00000263761), GDF10 (ENSG00000266524)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:88177) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 75 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal heart development	4
decreased embryo size	2
pericardial effusion	2
decreased bone volume	2
embryonic lethality during organogenesis, complete penetrance	2
fragile skeleton	1
decreased bone mineral density	1
short mandible	1
abnormal sphenoid bone morphology	1
abnormal trabecular bone morphology	1
abnormal scapula morphology	1
abnormal vascular development	1
absent atrioventricular cushions	1
abnormal craniofacial morphology	1
abnormal jaw morphology	1
maxilla hypoplasia	1
mandible hypoplasia	1
syndactyly	1
kinked tail	1
herniated abdominal wall	1
exencephaly	1
incomplete rostral neuropore closure	1
open neural tube	1
decreased body length	1
decreased body weight	1

+50 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
Xenopus tropicalis	Q800B9	98.8%	Diamond
Ovis aries	O77681	98.7%	Diamond
Capra hircus	Q66NC0	98.7%	Diamond
Drosophila melanogaster	P07713	98.3%	Diamond
Drosophila simulans	P91706	98.3%	Diamond
Bos taurus	Q6PX77	98.2%	Diamond
Suncus murinus	Q8MJV5	98.0%	Diamond
Dama dama	Q29607	97.8%	Diamond
Oryctolagus cuniculus	O46564	95.7%	Diamond
Sus scrofa	P07200	94.9%	Diamond
Equus caballus	P55102	94.8%	Diamond
Papio anubis	A9CB18	94.3%	Diamond
Xenopus laevis	Q91609	94.0%	Diamond
Felis catus	Q6X2S4	93.7%	Diamond
Epinephelus coioides	Q5I3Q2	91.0%	Diamond
Oreochromis mossambicus	Q98TB4	91.0%	Diamond
Chlorocebus aethiops	Q9BDW8	88.7%	Diamond
Gallus gallus	Q90752	83.7%	Diamond
Drosophila pseudoobscura pseudoobscura	P91699	81.0%	Diamond
Trichosurus vulpecula	O77755	74.5%	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
LINC01751	ncRNA	101929288
LINC01706	ncRNA	101929312
LINC01428	ncRNA	101929265
MIR8062	ncRNA	102465865
CASC20	ncRNA	101929244
LINC01713	ncRNA	105372516

Protein

Protein identifiers

Bone morphogenetic protein 2 — P12643 (reviewed: P12643)

Alternative names: Bone morphogenetic protein 2A

All UniProt accessions (2): C8C060, P12643

UniProt curated annotations — full annotation on UniProt →

Function. Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis. Induces cartilage and bone formation. Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Also acts to promote expression of HAMP, via the interaction with its receptor BMPR1A/ALK3. Can also signal through non-canonical pathways such as ERK/MAP kinase signaling cascade that regulates osteoblast differentiation. Also stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A-ATF4 pathway by stimulating EIF2A phosphorylation which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, expression is repressed during the bell stage by MSX1-mediated inhibition of CTNNB1 signaling.

Subunit / interactions. Homodimer; disulfide-linked. Interacts with SOSTDC1. Interacts with GREM2, RGMA, RGMB and RGMC. Interacts with ASPN. Interacts with MAFP5. Interacts with FBN1 (via N-terminal domain) and FBN2. Interacts with type I receptor BMPR1A. Interacts with type II receptor BMPR2. Interacts with SCUBE3. Interacts with TNFAIP6 (primarily via Link domain); this interaction is inhibited by hyaluronan. Interacts with ERFE. Interacts with BMPR1A/ALK3; the interaction may induce HAMP expression. Forms heterodimers with BMP6 in vitro; the heterodimer then binds to its receptor BMPR1A /ALK3 and may induce HAMP expression. Interacts with TGFBR3.

Subcellular location. Secreted.

Tissue specificity. Particularly abundant in lung, spleen and colon and in low but significant levels in heart, brain, placenta, liver, skeletal muscle, kidney, pancreas, prostate, ovary and small intestine.

Disease relevance. Brachydactyly A2 (BDA2) [MIM:112600] A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. The gene represented in this entry is involved in disease pathogenesis. Duplications of a cis-regulatory element located approximately 110 kb downstream of BMP2 have been found in BDA2 families. They likely cause altered BMP2 expression with pathological consequences. Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (SSFSC1) [MIM:617877] An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TGF-beta family.

RefSeq proteins (1): NP_001191* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001111	TGF-b_propeptide	Domain
IPR001839	TGF-b_C	Domain
IPR015615	TGF-beta-like	Family
IPR017948	TGFb_CS	Conserved_site
IPR029034	Cystine-knot_cytokine	Homologous_superfamily
IPR047953	BMP2_TGF_beta-like	Domain

Pfam: PF00019, PF00688

UniProt features (41 total): sequence variant 9, strand 9, glycosylation site 5, helix 5, disulfide bond 4, region of interest 2, signal peptide 1, propeptide 1, chain 1, mutagenesis site 1, turn 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

21 structures by resolution:

PDB	Title	Method	Resolution (Å)
2H62	Crystal structure of a ternary ligand-receptor complex of BMP-2	X-RAY DIFFRACTION	1.85
1REW	Structural refinement of the complex of bone morphogenetic protein 2 and its type IA …	X-RAY DIFFRACTION	1.86
4N1D	Nodal/BMP2 chimera NB250	X-RAY DIFFRACTION	1.91
2H64	Crystal structure of a ternary ligand-receptor complex of BMP-2	X-RAY DIFFRACTION	1.92
4MID	Crystal Structure of Activin A/BMP2 chimera	X-RAY DIFFRACTION	2.14
2GOO	Ternary Complex of BMP-2 bound to BMPR-Ia-ECD and ActRII-ECD	X-RAY DIFFRACTION	2.2
4UI1	Crystal structure of the human RGMC-BMP2 complex	X-RAY DIFFRACTION	2.35
2QJ9	Crystal structure analysis of BMP-2 in complex with BMPR-IA variant B1	X-RAY DIFFRACTION	2.44
2QJB	Crystal structure analysis of BMP-2 in complex with BMPR-IA variant IA/IB	X-RAY DIFFRACTION	2.5
2QJA	Crystal structure analysis of BMP-2 in complex with BMPR-IA variant B12	X-RAY DIFFRACTION	2.6
1REU	Structure of the bone morphogenetic protein 2 mutant L51P	X-RAY DIFFRACTION	2.65
6OMN	Glycosylated BMP2 homodimer	X-RAY DIFFRACTION	2.68
3BK3	Crystal structure of the complex of BMP-2 and the first Von Willebrand domain type C of …	X-RAY DIFFRACTION	2.7
3BMP	HUMAN BONE MORPHOGENETIC PROTEIN-2 (BMP-2)	X-RAY DIFFRACTION	2.7
4UI0	Crystal structure of the human RGMB-BMP2 complex, crystal form 2	X-RAY DIFFRACTION	2.8
8E3G	BMP2/GDF5 heterodimer	X-RAY DIFFRACTION	2.8
4UHZ	Crystal structure of the human RGMB-BMP2 complex, crystal form 1	X-RAY DIFFRACTION	2.85
1ES7	COMPLEX BETWEEN BMP-2 AND TWO BMP RECEPTOR IA ECTODOMAINS	X-RAY DIFFRACTION	2.9
7AG0	Complex between the bone morphogenetic protein 2 and its antagonist Noggin	X-RAY DIFFRACTION	3.1
4UI2	Crystal structure of the ternary RGMB-BMP2-NEO1 complex	X-RAY DIFFRACTION	3.15
4UHY	Crystal structure of the human RGMA-BMP2 complex	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12643-F1	80.37	0.45

Human Protein Atlas

Protein class: Predicted secreted proteins, Cancer-related genes, Candidate cancer biomarkers, Disease related genes, Human disease related genes, Congenital malformations, Congenital malformations of the musculoskeletal system, Other congenital malformations

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): vesicles; basal body; cytosol; nucleoplasm; plasma membrane; primary cilium; primary cilium tip; primary cilium transition zone

Antibody reliability (HPA): 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.

Post-translational modifications (1)

Type	Positions
Phosphoserine	87

Disulfide bonds (4)

Type	Positions
Disulfide bond	296–361, 325–393, 329–395
Interchain	360

Glycosylation sites (5)

Type	Positions
N-linked (glcnac…) asparagine	200, 135, 163, 164
N-linked (glcnac…) (high mannose) asparagine	338

Mutagenesis-validated functional residues (1)

Position	Phenotype
333	complete loss of type i receptor binding.

Function

Pathways and Gene Ontology

Reactome pathways

3 curated (TAS) of 11; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

11 pathways:

ID	Pathway	Evidence
R-HSA-2129379	Molecules associated with elastic fibres	curated
R-HSA-201451	Signaling by BMP	curated
R-HSA-8878166	Transcriptional regulation by RUNX2	curated
R-HSA-1566948	Elastic fibre formation	—
R-HSA-1474244	Extracellular matrix organization	—
R-HSA-74160	Gene expression (Transcription)	—
R-HSA-212436	Generic Transcription Pathway	—
R-HSA-73857	RNA Polymerase II Transcription	—
R-HSA-8939902	Regulation of RUNX2 expression and activity	electronic
R-HSA-162582	Signal Transduction	—
R-HSA-9006936	Signaling by TGFB family members	—

MSigDB gene sets: 917 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, MODULE_92, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, FREAC2_01, GOBP_MUSCLE_TISSUE_DEVELOPMENT

GO Biological Process (97): negative regulation of transcription by RNA polymerase II (GO:0000122), skeletal system development (GO:0001501), osteoblast differentiation (GO:0001649), branching involved in ureteric bud morphogenesis (GO:0001658), response to hypoxia (GO:0001666), in utero embryonic development (GO:0001701), epithelial to mesenchymal transition (GO:0001837), positive regulation of protein phosphorylation (GO:0001934), chondrocyte differentiation (GO:0002062), heart morphogenesis (GO:0003007), heart induction (GO:0003129), endodermal-mesodermal cell signaling (GO:0003133), aortic valve development (GO:0003176), atrioventricular valve morphogenesis (GO:0003181), endocardial cushion morphogenesis (GO:0003203), cardiac atrium formation (GO:0003210), endocardial cushion formation (GO:0003272), positive regulation of extracellular matrix constituent secretion (GO:0003331), regulation of DNA-templated transcription (GO:0006355), intracellular iron ion homeostasis (GO:0006879), inflammatory response (GO:0006954), Notch signaling pathway (GO:0007219), cell-cell signaling (GO:0007267), heart development (GO:0007507), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell population proliferation (GO:0008285), animal organ morphogenesis (GO:0009887), gene expression (GO:0010467), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), positive regulation of epithelial to mesenchymal transition (GO:0010718), negative regulation of steroid biosynthetic process (GO:0010894), positive regulation of phosphatase activity (GO:0010922), telencephalon development (GO:0021537), telencephalon regionalization (GO:0021978), positive regulation of Wnt signaling pathway (GO:0030177), bone mineralization (GO:0030282), osteoclast differentiation (GO:0030316), positive regulation of cell migration (GO:0030335), positive regulation of bone mineralization (GO:0030501), BMP signaling pathway (GO:0030509), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of aldosterone biosynthetic process (GO:0032348), positive regulation of osteoblast proliferation (GO:0033690), cardiocyte differentiation (GO:0035051), embryonic heart tube anterior/posterior pattern specification (GO:0035054), positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360), odontogenesis of dentin-containing tooth (GO:0042475), positive regulation of odontogenesis (GO:0042482), positive regulation of apoptotic process (GO:0043065), positive regulation of MAPK cascade (GO:0043410), negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569), cell fate commitment (GO:0045165), negative regulation of fat cell differentiation (GO:0045599), positive regulation of fat cell differentiation (GO:0045600), positive regulation of neuron differentiation (GO:0045666), positive regulation of ossification (GO:0045778), negative regulation of cell cycle (GO:0045786), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893)

+37 more (showing top 60).

GO Molecular Function (8): signaling receptor binding (GO:0005102), cytokine activity (GO:0005125), growth factor activity (GO:0008083), phosphatase activator activity (GO:0019211), co-receptor binding (GO:0039706), BMP receptor binding (GO:0070700), protein binding (GO:0005515), receptor ligand activity (GO:0048018)

GO Cellular Component (5): extracellular region (GO:0005576), cell surface (GO:0009986), protein-containing complex (GO:0032991), BMP receptor complex (GO:0070724), plasma membrane (GO:0005886)

Reactome top-level categories

8 top-level categories:

Category	Pathways
Signaling by TGFB family members	1
Elastic fibre formation	1
Generic Transcription Pathway	1
Transcriptional regulation by RUNX2	1
Extracellular matrix organization	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1
Signal Transduction	1

GO top-level categories

58 GO namespaces:

Category	Terms
cell differentiation	2
protein binding	2
receptor ligand activity	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
system development	1
animal gross anatomical part developmental process	1
ossification	1
branching morphogenesis of an epithelial tube	1
ureteric bud morphogenesis	1
response to stress	1
response to decreased oxygen levels	1
chordate embryonic development	1
mesenchymal cell differentiation	1
regulation of protein phosphorylation	1
protein phosphorylation	1
positive regulation of protein modification process	1
positive regulation of phosphorylation	1
cartilage development	1
heart development	1
animal organ morphogenesis	1
organ induction	1
heart field specification	1
regulation of heart morphogenesis	1
cell-cell signaling	1
semi-lunar valve development	1
atrioventricular valve development	1
heart valve morphogenesis	1
heart morphogenesis	1
endocardial cushion development	1
mesenchyme morphogenesis	1
cardiac chamber formation	1
cardiac atrium morphogenesis	1
endocardial cushion morphogenesis	1
anatomical structure formation involved in morphogenesis	1
regulation of extracellular matrix constituent secretion	1
extracellular matrix constituent secretion	1
positive regulation of extracellular matrix organization	1
positive regulation of secretion by cell	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
intracellular monoatomic cation homeostasis	1
inorganic ion homeostasis	1
enzyme activator activity	1
phosphatase activity	1
phosphatase regulator activity	1
transmembrane receptor protein serine/threonine kinase binding	1
binding	1
signaling receptor binding	1
signal transduction	1
signaling receptor activator activity	1
cellular_component	1
plasma membrane signaling receptor complex	1
membrane	1
cell periphery	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 58 of 111 annotations. The rest are phylogenetic / computational / electronic (IEA).

58 experimentally-supported GO terms:

GO term	NS	Evidence
BMP signaling pathway	BP	direct assay
cardiac epithelial to mesenchymal transition	BP	direct assay
cardiac muscle cell differentiation	BP	mutant phenotype
cardiocyte differentiation	BP	direct assay
cellular response to BMP stimulus	BP	mutant phenotype
chondrocyte differentiation	BP	direct assay
endodermal-mesodermal cell signaling	BP	direct assay
epithelial to mesenchymal transition	BP	direct assay
heart development	BP	direct assay
heart induction	BP	direct assay
intracellular iron ion homeostasis	BP	direct assay
lung vasculature development	BP	mutant phenotype
mesenchymal cell differentiation	BP	direct assay
mesenchyme development	BP	mutant phenotype
negative regulation of DNA-templated transcription	BP	direct assay
negative regulation of aldosterone biosynthetic process	BP	direct assay
negative regulation of calcium-independent cell-cell adhesion	BP	direct assay
negative regulation of canonical Wnt signaling pathway	BP	direct assay
negative regulation of cardiac muscle cell differentiation	BP	direct assay
negative regulation of cell cycle	BP	direct assay
negative regulation of cell population proliferation	BP	direct assay
negative regulation of cortisol biosynthetic process	BP	direct assay
negative regulation of fat cell differentiation	BP	direct assay
negative regulation of gene expression	BP	direct assay
negative regulation of insulin-like growth factor receptor signaling pathway	BP	direct assay
negative regulation of smooth muscle cell proliferation	BP	direct assay
negative regulation of steroid biosynthetic process	BP	direct assay
negative regulation of transcription by RNA polymerase II	BP	direct assay
negative regulation of transforming growth factor beta receptor signaling pathway	BP	genetic interaction
osteoblast differentiation	BP	direct assay
osteoclast differentiation	BP	mutant phenotype
positive regulation of DNA-templated transcription	BP	direct assay
positive regulation of ERK1 and ERK2 cascade	BP	direct assay
positive regulation of MAPK cascade	BP	direct assay
positive regulation of SMAD protein signal transduction	BP	direct assay
positive regulation of apoptotic process	BP	direct assay
positive regulation of bone mineralization	BP	direct assay
positive regulation of bone mineralization involved in bone maturation	BP	direct assay
positive regulation of cartilage development	BP	direct assay
positive regulation of cell population proliferation	BP	mutant phenotype
positive regulation of epithelial to mesenchymal transition	BP	direct assay
positive regulation of gene expression	BP	direct assay
positive regulation of ossification	BP	direct assay
positive regulation of p38MAPK cascade	BP	direct assay
positive regulation of peroxisome proliferator activated receptor signaling pathway	BP	genetic interaction
positive regulation of phosphatase activity	BP	direct assay
positive regulation of protein phosphorylation	BP	direct assay
positive regulation of transcription by RNA polymerase II	BP	direct assay
regulation of DNA-templated transcription	BP	direct assay
telencephalon development	BP	direct assay
BMP receptor complex	CC	direct assay
cell surface	CC	direct assay
protein-containing complex	CC	direct assay
BMP receptor binding	MF	direct assay
co-receptor binding	MF	physical interaction
cytokine activity	MF	mutant phenotype
growth factor activity	MF	direct assay
phosphatase activator activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 2,740 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BMP2	BGLAP	P02818	930
BMP2	RUNX2	Q13950	920
BMP2	NOG	Q13253	909
BMP2	BMPR1A	P36894	899
BMP2	BMPR1B	P78366	869
BMP2	SP7	Q8TDD2	865
BMP2	CHRD	Q9H2X0	838
BMP2	SMAD5	Q99717	823
BMP2	BMPR2	Q13873	822
BMP2	SPP1	P10451	814
BMP2	SHH	Q15465	812
BMP2	SMAD4	Q13485	811
BMP2	CTNNB1	P35222	786
BMP2	ALPL	P05186	778
BMP2	SOST	Q9BQB4	777

IntAct

Human interaction partners of BMP2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

14 partners by confidence:

Partner	Interaction type	MIscore	Records
BMPR1A	direct interaction	0.970	17
RGMB	direct interaction	0.690	4
HJV	direct interaction	0.560	4
RGMA	direct interaction	0.560	2
FSTL1	direct interaction	0.540	2
BMPR1B	direct interaction	0.440	3
NOG	direct interaction	0.440	2
ACVR2A	direct interaction	0.440	1
BMPR2	direct interaction	0.440	1
WFIKKN1	direct interaction	0.440	1
WFIKKN2	direct interaction	0.440	1
DIP2A	physical association	0.400	1
BCKDHA	association	0.350	1
TGFB2	proximity	0.270	1

BioGRID (30 interactions; top human partners by supporting records): BMPR1A (Co-crystal Structure; 5 records), BMPR2 (Affinity Capture-Western; 4 records), COL2A1 (Affinity Capture-Western; 3 records), ACVR2A (Reconstituted Complex; 2 records), BMPR1B (Reconstituted Complex; 2 records), NUCB2 (Affinity Capture-Western; 2 records), ACTR2 (Reconstituted Complex), ACVR2B (Reconstituted Complex), BCKDHA (Affinity Capture-MS), ENG (Affinity Capture-Western), FBXO11 (Affinity Capture-MS), MGP (Affinity Capture-Western), RGMB (Reconstituted Complex), SNX18 (Affinity Capture-MS), SOSTDC1 (Affinity Capture-Western)

SIGNOR signaling

showing 23 of 26 signaling interactions:

A	Effect	B	Mechanism
NOG	down-regulates	BMP2	binding
BMP2	up-regulates	ALPL
IHH	up-regulates	BMP2
RUNX2	“up-regulates quantity by expression”	BMP2	“transcriptional regulation”
FGF2	“up-regulates quantity by expression”	BMP2	“transcriptional regulation”
FGF9	“up-regulates quantity by expression”	BMP2	“transcriptional regulation”
GLI2	“up-regulates quantity by expression”	BMP2	“transcriptional regulation”
BMP2	“up-regulates quantity by expression”	OMD	“transcriptional regulation”
BMP2	up-regulates	SMAD2
BMP2	“down-regulates quantity by repression”	SHH	“transcriptional regulation”
BMP2	up-regulates	SMAD1
BMP2	up-regulates	SMAD5
BMP2	up-regulates	SMAD9
BMP2	up-regulates	BMPR1A/1B/2	binding
BMP2	up-regulates	BMP2	binding
BMP2	up-regulates	SMAD1/5/8
BMP2	up-regulates	BMPR2	binding
BMP2	up-regulates	MAPK14
SOSTDC1	“down-regulates activity”	BMP2
“Matrilin-1 - Matrilin-3 complex”	“down-regulates activity”	BMP2	binding
BMP2	“up-regulates activity”	BMPR2	binding
BMP2	up-regulates	BMPR1A	binding
BMP2	“up-regulates activity”	BMPR1A	binding

Protein complexes (CORUM) (3)

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

3 complexes by size:

Complex	Subunits	Members
BMP2-BRIA complex	3	BMP2, BMP4, BMPR1A
CHL2-BMP2-TSG complex	3	TWSG1, BMP2, CHRDL2
CHL2-BMP2 complex	2	BMP2, CHRDL2

Ligand–receptor pairs (CellPhoneDB) (6)

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

6 ligand–receptor pairs:

Partner	This gene’s role	Signaling class
BMPR1A;ACVR2B	ligand	Signaling by BMP
BMPR1A;ACVR2A	ligand	Signaling by BMP
BMPR1B;ACVR2A	ligand	Signaling by BMP
BMPR1A;BMPR2	ligand	Signaling by BMP
BMPR1B;BMPR2	ligand	Signaling by BMP
BMPR1B;ACVR2B	ligand	Signaling by BMP

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 14 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Signaling by BMP	6	194.7×	4e-12
Signaling by TGFB family members	5	52.4×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
cellular response to BMP stimulus	5	200.6×	4e-09
BMP signaling pathway	8	114.6×	2e-13
osteoblast differentiation	5	43.3×	3e-06
positive regulation of gene expression	5	13.8×	2e-04

Disease & clinical

Genetic variants

Variant evidence for BMP2: 278 ClinVar records (44 pathogenic / likely pathogenic); 94 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	24
Likely pathogenic	20
Uncertain significance	158
Likely benign	49
Benign	8

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 44 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
2573988	NM_001200.4(BMP2):c.231dup (p.Tyr78fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
492937	NM_001200.4(BMP2):c.987C>A (p.Cys329Ter)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	3
2127008	NM_001200.4(BMP2):c.613G>T (p.Glu205Ter)	Pathogenic	criteria provided, single submitter	2
620208	NM_001200.4(BMP2):c.43C>T (p.Gln15Ter)	Pathogenic	criteria provided, single submitter	1
1075203	NM_001200.4(BMP2):c.197_198del (p.Arg66fs)	Pathogenic	criteria provided, single submitter	1
1451444	NM_001200.4(BMP2):c.142G>T (p.Glu48Ter)	Pathogenic	criteria provided, single submitter	1
1453645	NM_001200.4(BMP2):c.346+2T>C	Pathogenic	criteria provided, single submitter	1
1697002	NM_001200.4(BMP2):c.754C>T (p.Gln252Ter)	Pathogenic	criteria provided, single submitter	1
2809346	NM_001200.4(BMP2):c.834_835del (p.Glu280fs)	Pathogenic	criteria provided, single submitter	1
3384676	NM_001200.4(BMP2):c.217_218dup (p.Val74fs)	Pathogenic	criteria provided, single submitter	1
3654432	NM_001200.4(BMP2):c.892A>T (p.Arg298Ter)	Pathogenic	criteria provided, single submitter	1
492934	NM_001200.4(BMP2):c.79G>T (p.Glu27Ter)	Likely pathogenic	criteria provided, single submitter	2
828025	NM_001200.4(BMP2):c.939G>A (p.Trp313Ter)	Likely pathogenic	criteria provided, single submitter	1
871374	NM_001200.4(BMP2):c.613_625del (p.Glu205fs)	Likely pathogenic	criteria provided, single submitter	1
986057	NM_001200.4(BMP2):c.1190A>C (p.Ter397Ser)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore BMP2’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; 19 predictions of 365):

Position(s)	Effect	Δscore	Sites
20:6768877	donor_loss	1.0000	2
20:6772748	donor_gain	1.0000
20:6778239	acceptor_gain	1.0000
20:6778243–6778244	acceptor_loss	1.0000	3
20:6768876	donor_loss	0.9900	2
20:6770473–6770474	donor_loss	0.9900	5
20:6770825	donor_gain	0.9900
20:6778224	acceptor_gain	0.9900
20:6778236	acceptor_gain	0.9900
20:6778243–6778244	acceptor_loss	0.9900	2

AlphaMissense

1,101 missense substitutions predicted likely pathogenic (of 2,606 scored), across 228 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
M388	9	0.995	0.999
F305	8	0.999	1.000
H342	8	0.999	1.000
F134	8	0.979	0.997
F331	8	0.979	1.000
F61	8	0.970	0.993
F207	8	0.965	0.996
D375	8	0.952	0.988
N338	8	0.942	0.992
D304	8	0.941	0.989
N341	8	0.937	0.999
F112	8	0.928	0.995
D270	8	0.924	0.984
H336	8	0.922	0.970
D193	8	0.912	0.974
F53	8	0.880	0.988
H114	8	0.876	0.967
D387	8	0.874	0.992
H243	8	0.825	0.921
D312	8	0.822	0.966

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	1.77e-06
Glioblastoma Multiforme (validation)	favorable	0.000173
Prostate Adenocarcinoma (TCGA)	unfavorable	0.000936

Disease associations

OMIM: gene MIM:112261 | disease phenotypes: MIM:617877, MIM:608808, MIM:108800, MIM:112600, MIM:614429

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
brachydactyly type A2	Strong	Autosomal dominant	3
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Strong	Autosomal dominant	3

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (6 panels, 6 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

6 panels:

Panel	Rating
Clefting	green
DDG2P	green
Fetal anomalies	green
Limb disorders	green
Paediatric disorders	green
Skeletal dysplasia	green

Mondo (6): short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (MONDO:0100297), dextro-looped transposition of the great arteries (MONDO:0019443), atrial septal defect 1 (MONDO:0007172), brachydactyly type A2 (MONDO:0007216), short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (MONDO:0031439), ventricular septal defect 1 (MONDO:0013746)

Orphanet (3): Congenitally uncorrected transposition of the great arteries (Orphanet:860), Interatrial communication (Orphanet:1478), Brachydactyly type A2 (Orphanet:93396)

HPO phenotypes

showing 60 of 102 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000029	Testicular atrophy
HP:0000044	Hypogonadotropic hypogonadism
HP:0000141	Amenorrhea
HP:0000160	Narrow mouth
HP:0000201	Pierre-Robin sequence
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000232	Everted lower lip vermilion
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0000337	Broad forehead
HP:0000341	Narrow forehead
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000391	Thickened helices
HP:0000405	Conductive hearing impairment
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000494	Downslanted palpebral fissures
HP:0000664	Synophrys
HP:0000678	Dental crowding
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum
HP:0000802	Impotence
HP:0000819	Diabetes mellitus
HP:0000878	11 pairs of ribs
HP:0000884	Prominent sternum
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000953	Hyperpigmentation of the skin
HP:0001009	Telangiectasia
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001394	Cirrhosis
HP:0001402	Hepatocellular carcinoma
HP:0001541	Ascites
HP:0001596	Alopecia
HP:0001631	Atrial septal defect
HP:0001635	Congestive heart failure
HP:0001638	Cardiomyopathy
HP:0001640	Cardiomegaly
HP:0001642	Pulmonic stenosis
HP:0001669	Transposition of the great arteries
HP:0001716	Wolff-Parkinson-White syndrome
HP:0001744	Splenomegaly
HP:0001773	Short foot
HP:0001822	Hallux valgus
HP:0001831	Short toe
HP:0001852	Sandal gap
HP:0001952	Glucose intolerance

GWAS associations

showing 30 of 94 associations:

Study	Trait	p-value
GCST002647_112	Height	1e-48
GCST001745_1	Sagittal craniosynostosis	1e-39
GCST006979_512	Heel bone mineral density	1e-31
GCST010002_336	Refractive error	4e-31
GCST002647_122	Height	3e-29
GCST007429_156	Lung function (FVC)	1e-26
GCST000817_97	Height	2e-24
GCST007856_17	Colorectal cancer or advanced adenoma	1e-22
GCST004063_28	Waist circumference adjusted for body mass index	7e-20
GCST006629_24	Pulse pressure	2e-19
GCST008839_37	Height	3e-19
GCST001956_41	Height	5e-18
GCST006979_513	Heel bone mineral density	5e-18
GCST007856_9	Colorectal cancer or advanced adenoma	5e-18
GCST008839_150	Height	1e-17
GCST010989_254	Body size at age 10	2e-17
GCST004075_8	Vertical cup-disc ratio	3e-17
GCST004075_7	Vertical cup-disc ratio	5e-17
GCST007432_198	FEV1	5e-17
GCST009412_7	Vertical cup-disc ratio	2e-16
GCST010988_186	Adult body size	2e-16
GCST004137_29	Optic cup area	3e-16
GCST004137_9	Optic cup area	2e-15
GCST009404_19	Optic cup area	4e-15
GCST004063_58	Waist circumference adjusted for body mass index	6e-15
GCST002702_81	Height	9e-15
GCST002782_138	Waist-to-hip ratio adjusted for body mass index	3e-14
GCST002782_141	Waist-to-hip ratio adjusted for body mass index	3e-14
GCST004184_3	Lung function (FVC)	6e-14
GCST007856_29	Colorectal cancer or advanced adenoma	7e-14

EFO canonical traits (from GWAS)

26 canonical traits:

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0700076	isolated scaphocephaly
EFO:0004626	IGFBP-3 measurement
EFO:0005318	axial length measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004778	self rated health
EFO:0007781	stressful life event measurement
EFO:0005054	QRS complex
EFO:0007742	QRS amplitude
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0006939	cup-to-disc ratio measurement
EFO:0004312	vital capacity
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0009270	heel bone mineral density
EFO:0004847	age at onset
EFO:0005763	pulse pressure measurement
EFO:0009718	peak expiratory flow
EFO:0004314	forced expiratory volume
EFO:0004530	triglyceride measurement
EFO:0010698	retinal break
EFO:0004327	electrocardiography
EFO:0009819	comparative body size at age 10, self-reported
EFO:0600008	mitochondrial heteroplasmy measurement

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
C537089	Brachydactyly type A2 *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1926496 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

3 measured of 3 human assays (3 total across all organisms); most potent 3 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL3288258	KD	24000 nM
CHEMBL3288260	KD	34000 nM
CHEMBL3288259	KD	46000 nM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects cotreatment, decreases expression, increases abundance, increases expression	5
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression, decreases methylation	5
Dexamethasone	affects cotreatment, increases expression, decreases reaction, increases reaction, affects reaction	4
Tretinoin	increases expression, increases reaction	4
Cadmium Chloride	decreases expression, increases abundance, increases expression, affects cotreatment	4
Simvastatin	decreases reaction, increases expression, increases secretion	4
methylmercuric chloride	decreases expression, increases expression	3
icariin	increases expression	3
Air Pollutants	affects expression, affects reaction, decreases expression, increases abundance, increases expression (+2 more)	3
Cadmium	decreases expression, increases abundance, increases expression	3
Progesterone	decreases reaction, decreases abundance, affects cotreatment, decreases expression	3
Tetrachlorodibenzodioxin	affects expression, affects reaction, affects cotreatment, decreases expression	3
cobaltiprotoporphyrin	increases expression, decreases expression, decreases reaction, affects cotreatment	2
ascorbate-2-phosphate	increases reaction, decreases reaction, affects cotreatment, increases expression, affects reaction	2
trichostatin A	affects cotreatment, increases expression	2
cobaltous chloride	affects cotreatment, affects reaction, increases expression	2
beta-glycerophosphoric acid	increases reaction, decreases reaction, affects cotreatment, increases expression, affects reaction	2
entinostat	increases expression, affects cotreatment	2
Atorvastatin	increases expression, increases secretion	2
Resveratrol	affects binding, decreases reaction, increases reaction, increases expression	2
Zoledronic Acid	increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Arsenic	affects expression, affects cotreatment, decreases expression, increases abundance	2
Calcitriol	increases expression, increases reaction	2
Chelating Agents	affects binding, decreases expression	2
Cisplatin	decreases expression, decreases response to substance, increases expression, affects cotreatment	2
Copper	affects binding, decreases expression	2
Estradiol	affects cotreatment, decreases expression, decreases reaction, increases abundance	2
Lipopolysaccharides	increases expression, increases reaction, affects response to substance	2

ChEMBL screening assays

22 unique, capped per target: 18 binding, 4 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1930799	Binding	Increase in human recombinant BMP2-mediated osteoblastogenesis in mouse C2C12 cells assessed as induction of alkaline phosphatase activity after 6 days	Butamben derivatives enhance BMP-2-stimulated commitment of C2C12 cells into osteoblasts with induction of voltage-gated potassium channel expression. — *Bioorg Med Chem Lett*
CHEMBL1930809	Functional	Increase in human recombinant BMP2-mediated osteoblastogenesis assessed as increase in alkaline phosphatase mRNA expression in mouse C2C12 at 10 uM co-treated with BMP2 antagonist noggin on day 3 measured after 6 days by SYBR-based RT-PCR	Butamben derivatives enhance BMP-2-stimulated commitment of C2C12 cells into osteoblasts with induction of voltage-gated potassium channel expression. — *Bioorg Med Chem Lett*

Cellosaurus cell lines

10 cell lines: 4 transformed cell line, 3 embryonic stem cell, 2 cancer cell line, 1 telomerase immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A0I9	SEES3-1V human BMP2, clone1	Embryonic stem cell	Male
CVCL_A0J0	SEES3-1V human BMP2, clone2	Embryonic stem cell	Male
CVCL_A0J1	SEES3-1V human BMP2, clone3	Embryonic stem cell	Male
CVCL_B1LC	Abcam HeLa BMP2 KO	Cancer cell line	Female
CVCL_C0BL	Abcam Caco-2 BMP2 KO	Cancer cell line	Male
CVCL_C3ND	rCHO(hBMP2)-C8	Transformed cell line	Female
CVCL_C6VX	MSOD-B	Telomerase immortalized cell line	Female
CVCL_D9A4	Ubigene HEK293 BMP2 KO	Transformed cell line	Female
CVCL_E4IF	EMC-G5	Transformed cell line	Female
CVCL_E4IG	EMC-G5 G5P.7A 3C9	Transformed cell line	Female

Clinical trials (associated diseases)

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

showing 60 of 300 trials:

NCT	Phase	Status	Title
NCT00205881	Phase 4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	Phase 4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	Phase 4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	Phase 4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	Phase 4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT01755728	Phase 3	COMPLETED	Paracetamol (Acetaminophen) for Closure of PDA in Preterm Infants
NCT01499901	Phase 3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	Phase 3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	Phase 3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	Phase 3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT00013455	Phase 2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	Phase 2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	Phase 2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	Phase 2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	Phase 2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	Phase 2	WITHDRAWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	Phase 2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	Phase 2	UNKNOWN	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	Phase 2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	Phase 2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	Phase 2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
NCT06340633	Phase 2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
NCT00582946	Phase 1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	Phase 1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	Phase 1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	Phase 1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
NCT01343394	Phase 1	WITHDRAWN	Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607	Phase 1	COMPLETED	Study to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595	Phase 1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT04041440	Phase 1	COMPLETED	Speech Recognition Training in Children With Hearing Loss
NCT07218913	Phase 1	RECRUITING	Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors
NCT01149564	Phase 1/2	UNKNOWN	Comparison of Oral and Intravenous Ibuprofen for PDA Treatment in Premature Infants
NCT02396004	Not specified	COMPLETED	NIRS in PDA VLBW Infants
NCT04379843	Not specified	COMPLETED	The Efficacy of Implementing a Treatment Algorithm in Managing Patent Ductus Arteriosus (PDA) in the Extremely Low Birth Weight Neonatal Population.
NCT05321849	Not specified	COMPLETED	Echocardiography-guided Percutaneous Patent Ductus Arteriosus Closure
NCT00486577	Phase 2/3	COMPLETED	Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus
NCT00789061	Phase 2/3	UNKNOWN	Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
NCT01423409	Phase 2/3	COMPLETED	Multicenter Trial Assessing an Innovative VAS of Pain Among Deaf People
NCT05786378	Phase 2/3	UNKNOWN	Assessment of The Efficacy of Intratympanic Platelet Rich Plasma for Treatment of Sensorineural Hearing Loss.
NCT01108601	Phase 1/2	UNKNOWN	Transtympanic Ringer’s Lactate for the Prevention of Cisplatin Ototoxicity
NCT01621256	Phase 1/2	COMPLETED	Efficacy, Safety, and Tolerability of Ancrod in Patients With Sudden Hearing Loss
NCT06370351	Phase 1/2	ACTIVE_NOT_RECRUITING	A Phase I/II Clinical Trial With SENS-501 in Children Suffering From Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
NCT06545175	Phase 1/2	ACTIVE_NOT_RECRUITING	Intracochlear Application of VSF1.01 for the Reduction of Cochlear Implant Surgery Related Trauma
NCT07304024	Phase 1/2	RECRUITING	A Treatment for a Form of Age-Related Central Auditory Processing Disorder Consisting of Clemastine Fumarate Plus Engineered Sound
NCT01109576	Early Phase 1	COMPLETED	Workshops for Veterans With Vision and Hearing Loss
NCT03300687	Early Phase 1	COMPLETED	First in Human Safety Study of FX-322 in Adults Undergoing Cochlear Implantation
NCT04777669	Early Phase 1	UNKNOWN	Removing Background Talker Noise for Cochlear Implant Users
NCT06025032	Early Phase 1	WITHDRAWN	a Study in Subjects With Otoferlin Mutation-related Hearing Loss Using RNA Base-eDiting Therapy(SOUND)
NCT00001668	Not specified	COMPLETED	Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors
NCT00001782	Not specified	COMPLETED	Areas of Brain Responsible for Understanding American Sign Language
NCT00013468	Not specified	COMPLETED	Early Diagnosis of Steroid-Responsive & No-Responsive Hearing Loss
NCT00016471	Not specified	COMPLETED	A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
NCT00018486	Not specified	COMPLETED	Epidemiology of Hearing Loss in Diabetic and Non-Diabetic Veterans
NCT00106743	Not specified	COMPLETED	Natural History and Genetic Studies of Usher Syndrome
NCT00110604	Not specified	COMPLETED	The Effect of Folic Acid on Atherosclerosis, Cognitive Performance and Hearing
NCT00126113	Not specified	COMPLETED	The Performance-Perceptual Test as a Counseling Tool
NCT00260663	Not specified	COMPLETED	The Hearing Aid Effectiveness After Aural Rehabilitation (HEAR) Trial
NCT00371436	Not specified	COMPLETED	Progressive Intervention Program for Tinnitus Management
NCT00371449	Not specified	COMPLETED	Predicting Success With Hearing Aids
NCT00371839	Not specified	COMPLETED	Clinical Applications for Time-Compressed Speech Tests

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for BMP2 across ~30M SureChEMBL compounds — explore on Sugi Predict.