PSTPIP2
gene geneOn this page
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.
Source: NCBI Gene 9050 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 48 total
- Druggable target: yes
- 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: 12 — 8 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000409746, ENST00000587042, ENST00000588801, ENST00000589328, ENST00000591729, ENST00000593086, ENST00000909790, ENST00000909791, ENST00000909792, ENST00000909793, ENST00000941998, ENST00000941999
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.
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
275 total, 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 |
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 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
116 targeting PSTPIP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| 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 |
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)
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
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H939-F1 | 89.88 | 0.80 |
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): 323, 329
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
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 Biological Process (0):
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
Rollup of top GO terms by namespace:
| 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
1566 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PSTPIP2 | TNFRSF11A | Q9Y6Q6 | 764 |
| PSTPIP2 | LPIN2 | Q92539 | 653 |
| PSTPIP2 | IL1RN | P18510 | 607 |
| PSTPIP2 | FBLIM1 | Q8WUP2 | 528 |
| PSTPIP2 | TRIP10 | Q15642 | 518 |
| PSTPIP2 | ARK2C | Q6ZSG1 | 505 |
| PSTPIP2 | PLA2G4C | Q9UP65 | 499 |
| PSTPIP2 | OSBP | P22059 | 476 |
| PSTPIP2 | FNBP1 | Q96RU3 | 456 |
| PSTPIP2 | CSK | P41240 | 443 |
| PSTPIP2 | CIBAR2 | Q6ZTR7 | 424 |
| PSTPIP2 | VAPA | Q9P0L0 | 423 |
| PSTPIP2 | PTPN18 | Q99952 | 417 |
| PSTPIP2 | FES | P07332 | 414 |
| PSTPIP2 | FCHSD1 | Q86WN1 | 414 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PTPN12 | SHC1 | psi-mi:“MI:0914”(association) | 0.860 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| LPXN | PCNT | psi-mi:“MI:0914”(association) | 0.640 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| GRB2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| SHC1 | BCR/ABL fusion | psi-mi:“MI:0914”(association) | 0.460 |
| PSTPIP2 | DNAJC5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PTPN22 | PSTPIP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.350 |
| PTPN12 | AIFM1 | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPN12 | PRPSAP2 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPN12 | HSPB1 | psi-mi:“MI:0914”(association) | 0.350 |
| GRB2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPN18 | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| PTPN18 | TIPRL | psi-mi:“MI:0914”(association) | 0.350 |
| LPXN | MED14 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD1 | RP2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A13 | XRCC3 | psi-mi:“MI:0914”(association) | 0.350 |
| CDC5L | psi-mi:“MI:0914”(association) | 0.350 | |
| STK38L | SH3PXD2B | psi-mi:“MI:2364”(proximity) | 0.270 |
| STK38L | CCDC187 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PTPN12 | ARHGAP10 | psi-mi:“MI:2364”(proximity) | 0.270 |
| EGFR | FAM171A2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ERBB2 | NHERF1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FGFR1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (45): PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Proximity Label-MS), PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-RNA), KRT18 (Two-hybrid), PSTPIP2 (Affinity Capture-Luminescence), PSTPIP2 (Affinity Capture-MS), PSTPIP2 (Affinity Capture-MS)
ESM2 similar proteins: A7MBI0, D3ZYR1, O13154, O43586, O55148, O60749, O60861, P09760, P16591, P70451, P97531, P97814, Q0JRZ9, Q15642, Q2HWF0, Q3KR97, Q3UQN2, Q4V920, Q5R411, Q5R807, Q5RCJ1, Q5T0N5, Q5U3Q6, Q60780, Q61644, Q6DCZ7, Q6GNV5, Q6GUF4, Q8CJ53, Q8I190, Q8I1A6, Q8I1C0, Q8I1I3, Q8K012, Q8T390, Q91VH2, Q99JB8, Q99M15, Q99N27, Q9BY11
Diamond homologs: A1C4A5, A1X283, A2AAY5, A5D7F8, A5D8S5, A6NI72, A7E3N2, A8MVU1, A8PWF6, E2RP94, E9Q634, F1LRS8, F1M707, M0R4F8, O01498, O15259, O35413, O42287, O43281, O43586, O70145, O76041, O77506, O77774, O77775, O89032, O94875, P07751, P0CP00, P0CP01, P10569, P13395, P14598, P16086, P16546, P19706, P19878, P20929, P34109, P39743
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 44 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 |
|---|---|---|---|
| SHC1 events in ERBB2 signaling | 5 | 82.0× | 9e-07 |
| Constitutive Signaling by Aberrant PI3K in Cancer | 6 | 26.2× | 6e-06 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 6 | 20.0× | 2e-05 |
| PIP3 activates AKT signaling | 6 | 13.8× | 1e-04 |
| RAF/MAP kinase cascade | 6 | 12.6× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
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 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2368 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:45997734:T:TA | donor_gain | 1.0000 |
| 18:45997745:GTAC:G | donor_loss | 1.0000 |
| 18:45997746:TAC:T | donor_loss | 1.0000 |
| 18:45997748:C:CA | donor_loss | 1.0000 |
| 18:45997824:TTTGT:T | acceptor_gain | 1.0000 |
| 18:45997825:TTGT:T | acceptor_gain | 1.0000 |
| 18:45997826:TGT:T | acceptor_gain | 1.0000 |
| 18:45997827:GT:G | acceptor_gain | 1.0000 |
| 18:45997828:TC:T | acceptor_loss | 1.0000 |
| 18:45997829:C:CA | acceptor_loss | 1.0000 |
| 18:45997829:C:CC | acceptor_gain | 1.0000 |
| 18:45997830:T:A | acceptor_loss | 1.0000 |
| 18:45997833:A:T | acceptor_gain | 1.0000 |
| 18:45997835:C:CT | acceptor_gain | 1.0000 |
| 18:45997836:A:T | acceptor_gain | 1.0000 |
| 18:45998788:CCTCA:C | donor_loss | 1.0000 |
| 18:45998790:TCACC:T | donor_loss | 1.0000 |
| 18:45998791:CACCT:C | donor_loss | 1.0000 |
| 18:45998793:C:CA | donor_loss | 1.0000 |
| 18:45998849:C:CT | acceptor_gain | 1.0000 |
| 18:45999534:CCTT:C | acceptor_gain | 1.0000 |
| 18:45999537:T:TC | acceptor_gain | 1.0000 |
| 18:45999541:CATTA:C | acceptor_gain | 1.0000 |
| 18:45999542:A:C | acceptor_gain | 1.0000 |
| 18:45999542:A:T | acceptor_gain | 1.0000 |
| 18:45999543:T:C | acceptor_gain | 1.0000 |
| 18:45999543:T:TC | acceptor_gain | 1.0000 |
| 18:45999545:A:AC | acceptor_gain | 1.0000 |
| 18:45999545:A:C | acceptor_gain | 1.0000 |
| 18:45999550:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
2238 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:45993678:C:G | R223P | 0.998 |
| 18:46024654:A:G | L56P | 0.998 |
| 18:46024685:C:G | A46P | 0.998 |
| 18:45993663:C:G | R228P | 0.997 |
| 18:45997778:A:G | W205R | 0.997 |
| 18:45997778:A:T | W205R | 0.997 |
| 18:46024663:C:T | G53D | 0.997 |
| 18:45999492:C:G | A154P | 0.995 |
| 18:45992186:C:G | R253P | 0.994 |
| 18:46024645:A:G | L59P | 0.994 |
| 18:46039956:A:G | L42P | 0.994 |
| 18:46011272:G:T | A88E | 0.993 |
| 18:45992153:T:G | D264A | 0.992 |
| 18:45992154:C:G | D264H | 0.992 |
| 18:45997757:C:G | A212P | 0.992 |
| 18:45997820:A:C | Y191D | 0.992 |
| 18:46011252:C:G | A95P | 0.992 |
| 18:46039998:A:G | L28P | 0.992 |
| 18:46011251:G:T | A95E | 0.991 |
| 18:46024664:C:G | G53R | 0.991 |
| 18:46040022:C:T | G20D | 0.991 |
| 18:45997765:T:G | H209P | 0.990 |
| 18:46011188:C:G | R116P | 0.990 |
| 18:46024686:C:A | R45S | 0.990 |
| 18:46024686:C:G | R45S | 0.990 |
| 18:45999534:C:G | A140P | 0.989 |
| 18:46015920:A:G | L77P | 0.989 |
| 18:45993652:A:G | W232R | 0.988 |
| 18:45993652:A:T | W232R | 0.988 |
| 18:45997776:C:A | W205C | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000103549 (18:46044890 CA>C,CAA), RS1000136214 (18:46045142 A>C,T), RS1000158153 (18:45995235 T>C), RS1000196703 (18:45989485 G>A), RS1000204799 (18:46018546 T>C), RS1000269014 (18:45989106 T>C), RS1000273401 (18:46073921 C>A), RS1000376550 (18:46031927 T>G), RS1000389241 (18:46045552 C>A), RS1000410462 (18:46046068 G>A), RS1000417899 (18:46026039 G>A), RS1000470124 (18:46025848 G>A), RS1000577450 (18:46019135 A>G), RS1000614283 (18:46056918 A>G), RS1000645675 (18:46013062 T>C)
Disease associations
OMIM: gene MIM:616046 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007741_18 | Iris color (b* coordinate) | 2.000000e-06 |
| GCST90002400_246 | Plateletcrit | 3.000000e-09 |
| GCST90002402_428 | Platelet count | 3.000000e-10 |
EFO canonical traits (3, from GWAS)
| 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 (VIP=true, CPIC=false)
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
44 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 | decreases expression, increases expression | 2 |
| Estradiol | decreases expression, increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, increases expression | 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 | affects cotreatment, increases abundance, increases expression | 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 | increases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | increases abundance, decreases expression | 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)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.