PSTPIP2

Summary

PSTPIP2 (proline-serine-threonine phosphatase interacting protein 2, HGNC:9581) is a protein-coding gene on chromosome 18q21.1, encoding Proline-serine-threonine phosphatase-interacting protein 2 (Q9H939). Binds to F-actin.

Predicted to be located in cytoskeleton; cytosol; and membrane. Predicted to be active in cytoplasm and plasma membrane.

Source: NCBI Gene 9050 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 48 total
• GTEx eGene: eQTL in 18 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.78 (unconstrained)
• MANE Select transcript: NM_024430

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9581
Approved symbol	PSTPIP2
Name	proline-serine-threonine phosphatase interacting protein 2
Location	18q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000152229
Ensembl biotype	protein_coding
OMIM	616046
Entrez	9050

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

MANE Select: ENST00000409746

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 3: 1, TSL 4: 1, TSL 5: 1

ENST00000409746, ENST00000587042, ENST00000588801, ENST00000589328, ENST00000591729, ENST00000593086, ENST00000909790, ENST00000909791, ENST00000909792, ENST00000909793, ENST00000941998, ENST00000941999, ENST00001018254, ENST00001132682

RefSeq mRNA: 1 — MANE Select: NM_024430 NM_024430

CCDS: CCDS32820

Canonical transcript exons

ENST00000409746 — 15 exons

Exon	Start	End
ENSE00002835121	46072156	46072260
ENSE00003380285	45993605	45993703
ENSE00003437304	45997749	45997828
ENSE00003468305	46011181	46011287
ENSE00003475928	45991902	45991983
ENSE00003485239	46005469	46005531
ENSE00003486620	45990722	45990756
ENSE00003492888	46015903	46015937
ENSE00003533245	45999436	45999534
ENSE00003544660	45998794	45998839
ENSE00003562734	45988702	45988759
ENSE00003584469	45983536	45985450
ENSE00003616113	46024609	46024686
ENSE00003660837	45992106	45992202
ENSE00003664388	46039947	46040047

Expression profiles

Bgee: expression breadth ubiquitous, 197 present calls, max score 95.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.2782 / max 433.9727, expressed in 1638 samples.

Highest expression (Bgee): spleen, monocyte, mononuclear cell, leukocyte, granulocyte.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PSTPIP2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 18 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

18 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Whole Blood	eqtl	2.9e-19	+0.25	18:45983056:C:T
Cells Cultured fibroblasts	eqtl	3.4e-13	-0.48	18:45962348:T:C
Muscle Skeletal	eqtl	3.5e-09	-0.19	18:46092963:C:T
Artery Tibial	eqtl	2.5e-07	-0.19	18:46071304:A:G
Skin Sun Exposed Lower leg	eqtl	1.9e-06	-0.16	18:46072237:G:A
Esophagus Mucosa	eqtl	4.7e-04	+0.20	18:46063665:T:A
Skin Not Sun Exposed Suprapubic	eqtl	9.2e-04	-0.13	18:46113649:T:G
Adipose Subcutaneous	eqtl	1.8e-03	+0.36	18:46163634:T:C
Brain Caudate basal ganglia	eqtl	5.9e-03	-1.02	18:46360756:G:A
Artery Aorta	eqtl	6.9e-03	-0.19	18:46123257:C:G
Brain Spinal cord cervical c-1	eqtl	9.3e-03	+0.83	18:45699208:A:G
Stomach	eqtl	1.6e-02	-0.55	18:45978946:C:T
Pancreas	eqtl	1.6e-02	+0.22	18:45978197:A:G
Esophagus Muscularis	eqtl	1.6e-02	-0.55	18:46002385:T:C
Testis	eqtl	1.7e-02	-0.19	18:46072379:A:G
Cells EBV-transformed lymphocytes	eqtl	1.9e-02	+0.31	18:45993383:C:T
Artery Coronary	eqtl	3.0e-02	-1.04	18:45340924:A:G
Pituitary	eqtl	4.7e-02	-0.33	18:45846244:A:G

FANTOM5 promoters

5 alternative TSS:

Promoter ID	TPM avg	Samples expressed
171789	12.6690	1624
171790	0.2965	120
171791	0.2404	90
171782	0.0634	12
171783	0.0089	3

Top tissues by expression

showing 100 of 275 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
spleen	UBERON:0002106	95.57	gold quality
monocyte	CL:0000576	95.54	gold quality
mononuclear cell	CL:0000842	95.12	gold quality
leukocyte	CL:0000738	94.67	gold quality
granulocyte	CL:0000094	90.77	gold quality
bone marrow	UBERON:0002371	90.50	gold quality
blood	UBERON:0000178	90.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.61	gold quality
trabecular bone tissue	UBERON:0002483	89.10	gold quality
bone marrow cell	CL:0002092	87.87	gold quality
muscle of leg	UBERON:0001383	86.51	gold quality
gastrocnemius	UBERON:0001388	86.32	gold quality
biceps brachii	UBERON:0001507	86.08	gold quality
mucosa of stomach	UBERON:0001199	85.62	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.59	gold quality
muscle organ	UBERON:0001630	84.89	gold quality
right lung	UBERON:0002167	84.01	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	83.49	silver quality
skin of leg	UBERON:0001511	83.03	gold quality
upper lobe of left lung	UBERON:0008952	82.90	gold quality
skin of abdomen	UBERON:0001416	81.97	gold quality
skeletal muscle tissue	UBERON:0001134	81.94	gold quality
upper lobe of lung	UBERON:0008948	81.61	gold quality
right lobe of liver	UBERON:0001114	81.23	gold quality
vastus lateralis	UBERON:0001379	80.48	silver quality
zone of skin	UBERON:0000014	80.36	gold quality
body of stomach	UBERON:0001161	79.40	gold quality
minor salivary gland	UBERON:0001830	78.97	gold quality
gall bladder	UBERON:0002110	78.93	gold quality
muscle tissue	UBERON:0002385	78.85	gold quality
vermiform appendix	UBERON:0001154	78.66	gold quality
right adrenal gland cortex	UBERON:0035827	78.61	gold quality
quadriceps femoris	UBERON:0001377	78.43	silver quality
prostate gland	UBERON:0002367	78.39	gold quality
left uterine tube	UBERON:0001303	77.83	gold quality
left adrenal gland cortex	UBERON:0035825	77.82	gold quality
left adrenal gland	UBERON:0001234	77.65	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.56	gold quality
muscle layer of sigmoid colon	UBERON:0035805	77.54	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.49	gold quality
adrenal tissue	UBERON:0018303	77.44	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	77.15	gold quality
right adrenal gland	UBERON:0001233	77.12	gold quality
mucosa of transverse colon	UBERON:0004991	77.05	gold quality
stromal cell of endometrium	CL:0002255	76.93	gold quality
rectum	UBERON:0001052	76.91	gold quality
descending thoracic aorta	UBERON:0002345	76.80	gold quality
vagina	UBERON:0000996	76.63	gold quality
lower esophagus muscularis layer	UBERON:0035833	76.62	gold quality
lower esophagus	UBERON:0013473	76.61	gold quality
calcaneal tendon	UBERON:0003701	76.52	gold quality
transverse colon	UBERON:0001157	76.40	gold quality
esophagus	UBERON:0001043	76.35	gold quality
esophagus mucosa	UBERON:0002469	76.30	gold quality
adrenal gland	UBERON:0002369	76.29	gold quality
small intestine Peyer’s patch	UBERON:0003454	76.28	gold quality
stomach	UBERON:0000945	76.06	gold quality
adrenal cortex	UBERON:0001235	75.98	gold quality
tibia	UBERON:0000979	75.85	gold quality
thoracic aorta	UBERON:0001515	75.76	gold quality
ascending aorta	UBERON:0001496	75.70	gold quality
left ovary	UBERON:0002119	75.54	gold quality
tibial artery	UBERON:0007610	75.49	gold quality
popliteal artery	UBERON:0002250	75.46	gold quality
right coronary artery	UBERON:0001625	75.44	gold quality
aorta	UBERON:0000947	75.43	gold quality
right ovary	UBERON:0002118	75.41	gold quality
subcutaneous adipose tissue	UBERON:0002190	75.29	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	75.23	gold quality
omental fat pad	UBERON:0010414	75.18	gold quality
tibial nerve	UBERON:0001323	75.12	gold quality
peritoneum	UBERON:0002358	75.08	gold quality
mouth mucosa	UBERON:0003729	75.05	gold quality
liver	UBERON:0002107	74.88	gold quality
body of pancreas	UBERON:0001150	74.64	gold quality
lower esophagus mucosa	UBERON:0035834	74.64	gold quality
placenta	UBERON:0001987	74.61	gold quality
adipose tissue of abdominal region	UBERON:0007808	74.55	gold quality
ectocervix	UBERON:0012249	74.55	gold quality
small intestine	UBERON:0002108	74.37	gold quality
lymph node	UBERON:0000029	74.18	gold quality
deltoid	UBERON:0001476	73.94	silver quality
body of uterus	UBERON:0009853	73.81	gold quality
ovary	UBERON:0000992	73.71	gold quality
left coronary artery	UBERON:0001626	73.69	gold quality
metanephros cortex	UBERON:0010533	73.63	gold quality
colon	UBERON:0001155	73.61	gold quality
intestine	UBERON:0000160	73.47	gold quality
saliva-secreting gland	UBERON:0001044	73.46	gold quality
large intestine	UBERON:0000059	73.25	gold quality
ventricular zone	UBERON:0003053	73.22	gold quality
smooth muscle tissue	UBERON:0001135	73.09	gold quality
endocervix	UBERON:0000458	73.02	gold quality
lung	UBERON:0002048	72.95	gold quality
gluteal muscle	UBERON:0002000	72.61	gold quality
upper leg skin	UBERON:0004262	72.38	gold quality
caecum	UBERON:0001153	72.36	gold quality
coronary artery	UBERON:0001621	72.03	gold quality
urinary bladder	UBERON:0001255	72.02	gold quality
sural nerve	UBERON:0015488	71.91	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	33.97
E-HCAD-6	yes	20.34
E-HCAD-10	yes	16.04
E-MTAB-9067	yes	11.47
E-ANND-3	yes	9.60
E-CURD-6	no	407.73
E-MTAB-8410	no	3.57
E-MTAB-6678	no	3.37

HPA expression

RNA tissue specificity: Group enriched

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Bone marrow	tissue	68.4	high
Spleen	tissue	47.6	low
Skeletal muscle	tissue	30.9	not detected
Placenta	tissue	11.3	medium
Appendix	tissue	10.5	not detected
Urinary bladder	tissue	8.9	not detected
Spinal cord	tissue	8.7
Skin 1	tissue	7.9	not detected
Breast	tissue	7.9	low
Substantia nigra	tissue	7.7
Liver	tissue	7.6	not detected
Cerebral cortex	tissue	7.4	not detected
Somatosensory cortex	tissue	7.4
Thalamus	tissue	7.0
Medulla oblongata	tissue	6.9
Superior colliculi	tissue	6.9
Pons	tissue	6.8
Midbrain	tissue	6.6
Frontal cortex	tissue	6.5
Temporal cortex	tissue	6.5
Occipital cortex	tissue	6.4
Hippocampal formation	tissue	6.3
Entorhinal cortex	tissue	6.3
Hypothalamus	tissue	6.0
Lymph node	tissue	5.9	not detected
Prefrontal cortex	tissue	5.9
Motor cortex	tissue	5.4
Tongue	tissue	5.4
Prostate	tissue	5.4	medium
Septum	tissue	5.3
Amygdala	tissue	5.1
Retrosplenial and cingulate cortex	tissue	5.1
Caudate putamen	tissue	5.0
Gallbladder	tissue	4.9	not detected
Retrosplenial cortex	tissue	4.9
Insular cortex	tissue	4.9
Rectum	tissue	4.8	high
Periaqueductal gray	tissue	4.8
Lung	tissue	4.6	not detected
Tonsil	tissue	4.6	medium
Smooth muscle	tissue	4.3	not detected
Vagina	tissue	4.1	not detected
Cervix	tissue	3.9	not detected
Colon	tissue	3.9	high
Ventral forebrain	tissue	3.9
Esophagus	tissue	3.8	not detected
Adrenal gland	tissue	3.7	low
Parathyroid gland	tissue	3.6	not detected
Thymus	tissue	3.6
Small intestine	tissue	3.5	high
Duodenum	tissue	3.4	high
Stomach 1	tissue	3.3	not detected
Choroid plexus	tissue	3.3
Olfactory bulb	tissue	3.3
Basal ganglia	tissue	3.2	not detected
Putamen	tissue	3.1
Pituitary gland	tissue	2.8
Adipose tissue	tissue	2.8	not detected
Cerebellum	tissue	2.7	not detected
Seminal vesicle	tissue	2.6	not detected

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Ventral spinal cord (8.7), Ventral hippocampus (6.1), Subiculum (5.5), Dorsal spinal cord (5.4), Dorsal hippocampus (4.6).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting PSTPIP2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 116 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836

Functional genomics

gnomAD constraint: pLI 1.71e-05, LOEUF 0.78, missense Z 1.77 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000409746 — one region, missense o/e 0.78.

Literature-anchored findings (GeneRIF, showing 4)

• PSTPIP2 dysregulation contributes to aberrant terminal differentiation in GATA-1-deficient megakaryocytes by activating LYN. (PMID:24407241)
• Methylation on PSTPIP2 is associated with the development of anti-tuberculosis drug-induced liver injury. (PMID:31247120)
• PSTPIP2 inhibits cisplatin-induced acute kidney injury by suppressing apoptosis of renal tubular epithelial cells. (PMID:33311489)
• PSTPIP2 is associated with disease severity in patients with pressure ulcer sepsis and has anti-inflammatory effects. (PMID:37695226)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pstpip2	ENSDARG00000089569
mus_musculus	Pstpip2	ENSMUSG00000025429
rattus_norvegicus	Pstpip2	ENSRNOG00000016987
drosophila_melanogaster	CG8176	FBGN0037702
caenorhabditis_elegans		WBGENE00018974

Paralogs (5): GAS7 (ENSG00000007237), SGIP1 (ENSG00000118473), FCHO1 (ENSG00000130475), PSTPIP1 (ENSG00000140368), FCHO2 (ENSG00000157107)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1335088) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 51 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal autopod morphology	3
cellular necrosis	2
kinked tail	2
ear inflammation	2
skin inflammation	2
osteomyelitis	2
thick ears	1
decreased bone mineral density	1
abnormal microglial cell morphology	1
abnormal vertebrae morphology	1
extramedullary hematopoiesis	1
increased hindlimb autopod size	1
deformed nails	1
abnormal liver morphology	1
enlarged spleen	1
enlarged lymph nodes	1
reddish skin	1
scaly skin	1
spontaneous skin ulceration	1
hyperkeratosis	1
decreased locomotor activity	1
decreased exploration in new environment	1
decreased grooming behavior	1
abnormal skeleton physiology	1
autoimmune response	1

+26 more (showing top 25).

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
HAUS1	protein-coding	115106
ARK2N	protein-coding	147339
ATP5F1A	protein-coding	498
TRK-CTT6-1	tRNA	100188995
SIGLEC15	protein-coding	284266
EPG5	protein-coding	57724
SLC14A2-AS1	ncRNA	101927980
SLC14A1	protein-coding	6563
SLC14A2	protein-coding	8170

Protein

Protein identifiers

Proline-serine-threonine phosphatase-interacting protein 2 — Q9H939 (reviewed: Q9H939)

All UniProt accessions (4): Q9H939, A0A0S2Z4R2, A0A0S2Z505, A0A0S2Z5F6

UniProt curated annotations — full annotation on UniProt →

Function. Binds to F-actin. May be involved in regulation of the actin cytoskeleton.

Subcellular location. Cytoplasm. Membrane.

Post-translational modifications. Phosphorylated on tyrosine.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H939-1	1	yes
Q9H939-2	2

RefSeq proteins (1): NP_077748* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001060	FCH_dom	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR031160	F_BAR_dom	Domain
IPR042694	PSTPIP2_F-BAR	Domain

Pfam: PF00611

UniProt features (10 total): modified residue 2, sequence variant 2, chain 1, domain 1, region of interest 1, coiled-coil region 1, splice variant 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H939-F1	89.88	0.80

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): plasma membrane; cytosol

Antibody reliability (HPA): IH enhanced · 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 (2)

Type	Positions
Phosphotyrosine	323, 329

Function

Pathways and Gene Ontology

Reactome pathways

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

MSigDB gene sets: 200 (showing top): LEE_NEURAL_CREST_STEM_CELL_DN, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, BOYLAN_MULTIPLE_MYELOMA_D_DN, TANG_SENESCENCE_TP53_TARGETS_UP, BOYLAN_MULTIPLE_MYELOMA_D_CLUSTER_DN, BYSTROEM_CORRELATED_WITH_IL5_DN, BROWN_MYELOID_CELL_DEVELOPMENT_UP, GAVIN_FOXP3_TARGETS_CLUSTER_T7, GAVIN_FOXP3_TARGETS_CLUSTER_P2, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_AND_PAX3, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN, SENESE_HDAC1_AND_HDAC2_TARGETS_UP

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

7 GO namespaces:

Category	Terms
cellular anatomical structure	3
binding	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

showing 16 of 918 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSTPIP2	TNFRSF11A	Q9Y6Q6	757
PSTPIP2	LPIN2	Q92539	679
PSTPIP2	IL1RN	P18510	584
PSTPIP2	RPP25L	Q8N5L8	495
PSTPIP2	FBLIM1	Q8WUP2	485
PSTPIP2	TRIP10	Q15642	446
PSTPIP2	SGCG	Q13326	445
PSTPIP2	PRDM6	Q9NQX0	439
PSTPIP2	A0A2Q2T6B6	A0A2Q2T6B6	421
PSTPIP2	ZSWIM3	Q96MP5	410
PSTPIP2	PTPN18	Q99952	409
PSTPIP2	PLA2G4C	Q9UP65	409
PSTPIP2	FCHSD1	Q86WN1	405
PSTPIP2	FNBP1	Q96RU3	383
PSTPIP2	NUCKS1	Q9H1E3	370
PSTPIP2	VGLL4	Q14135	370

IntAct

Human interaction partners of PSTPIP2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
DNAJC5	physical association	0.400	1
PTPN22	physical association	0.400	1

BioGRID (46 interactions; top human partners by supporting records): PTPN12 (Affinity Capture-MS; 6 records), PTPN18 (Affinity Capture-MS; 4 records), CCNF (Affinity Capture-MS; 2 records), GRB2 (Affinity Capture-MS; 2 records), LPXN (Affinity Capture-MS; 2 records), PTPN22 (Affinity Capture-MS; 2 records), VAPA (Affinity Capture-MS; 2 records), AATK (Proximity Label-MS), ANPEP (Proximity Label-MS), CDC5L (Affinity Capture-MS), DNAJC5 (Affinity Capture-Luminescence), DPP4 (Proximity Label-MS), EGFR (Proximity Label-MS), ENG (Affinity Capture-MS), ERBB2 (Proximity Label-MS)

Disease & clinical

Genetic variants

Variant evidence for PSTPIP2: 48 ClinVar records (0 pathogenic / likely pathogenic); 3 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	3
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 30 predictions of 1,281):

Position(s)	Effect	Δscore	Sites
18:45997829–45997830	acceptor_loss	1.0000	4
18:45997833	acceptor_gain	1.0000
18:45997836	acceptor_gain	1.0000
18:45998792–45998793	donor_loss	1.0000	5
18:45999542–45999545	acceptor_gain	1.0000	4
18:45999551	acceptor_gain	1.0000
18:45999560	acceptor_gain	1.0000
18:46024607	donor_loss	1.0000	2
18:46024687–46024688	acceptor_loss	1.0000	6
18:46039945–46039946	donor_loss	1.0000	5

AlphaMissense

680 missense substitutions predicted likely pathogenic (of 2,238 scored), across 199 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
D264	8	0.964	0.992
D246	8	0.907	0.951
H91	8	0.868	0.987
W205	7	0.975	0.997
F6	7	0.960	0.979
F10	7	0.954	0.988
W232	7	0.951	0.988
E49	7	0.939	0.974
R45	7	0.915	0.990
F108	7	0.915	0.979
W11	7	0.911	0.975
E69	7	0.901	0.953
F41	7	0.882	0.966
N236	7	0.880	0.968
C259	7	0.866	0.987
F268	7	0.824	0.947
E250	7	0.760	0.893
E220	7	0.720	0.955
K172	6	0.924	0.972
K176	6	0.904	0.973

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Papillary Cell Carcinoma (TCGA)	unfavorable	0.000475
Lung Adenocarcinoma (TCGA)	favorable	0.000609

Disease associations

OMIM: gene MIM:616046 | disease phenotypes:

GWAS associations

3 associations:

Study	Trait	p-value
GCST90002402_98	Platelet count	3e-10
GCST90002400_696	Plateletcrit	3e-9
GCST007741_15	Iris color (b* coordinate)	2e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0009764	eye colour measurement
EFO:0007985	platelet crit
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067297 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5653589	KD	1440 nM

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.64	Kd	22.88	nM	CHEMBL5653589
7.64	ED50	22.88	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149139: Binding affinity to human PSTPIP2 incubated for 45 mins by Kinobead based pull down assay	kd	0.0229	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects expression, affects methylation, increases expression	5
Valproic Acid	affects cotreatment, increases expression, increases methylation	5
Aflatoxin B1	affects expression, increases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
(+)-JQ1 compound	decreases expression	2
Acetaminophen	increases expression, decreases expression	2
Air Pollutants	increases abundance, increases expression, decreases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression, affects expression	2
Particulate Matter	affects cotreatment, increases expression, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
deoxynivalenol	increases expression	1
trichostatin A	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
isobutyl alcohol	increases abundance, increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Cytarabine	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652181	Binding	Binding affinity to human PSTPIP2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — *ChemMedChem*

Clinical trials (associated diseases)

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

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for PSTPIP2 across ~30M SureChEMBL compounds — explore on Sugi Predict.