RASA3
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Also known as GAP1IP4BPGAPIII
Summary
RASA3 (RAS p21 protein activator 3, HGNC:20331) is a protein-coding gene on chromosome 13q34, encoding Ras GTPase-activating protein 3 (Q14644). Inhibitory regulator of the Ras-cyclic AMP pathway.
This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 22821 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 165 total — 1 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_007368
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20331 |
| Approved symbol | RASA3 |
| Name | RAS p21 protein activator 3 |
| Location | 13q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GAP1IP4BP, GAPIII |
| Ensembl gene | ENSG00000185989 |
| Ensembl biotype | protein_coding |
| OMIM | 605182 |
| Entrez | 22821 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000334062, ENST00000542651, ENST00000881265, ENST00000881266, ENST00000912835, ENST00000947915, ENST00000947916, ENST00000947917
RefSeq mRNA: 3 — MANE Select: NM_007368
NM_001320821, NM_001320822, NM_007368
CCDS: CCDS32016
Canonical transcript exons
ENST00000334062 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001334925 | 113981675 | 113981858 |
| ENSE00001334926 | 113992485 | 113992588 |
| ENSE00001334928 | 113996531 | 113996739 |
| ENSE00001334932 | 113999585 | 113999667 |
| ENSE00001334935 | 114000826 | 114000932 |
| ENSE00001334936 | 114007533 | 114007606 |
| ENSE00001334938 | 114009387 | 114009464 |
| ENSE00001334940 | 114011171 | 114011248 |
| ENSE00001334941 | 114013142 | 114013248 |
| ENSE00001334942 | 114015209 | 114015332 |
| ENSE00001334944 | 114016197 | 114016271 |
| ENSE00001334946 | 114017237 | 114017351 |
| ENSE00001334956 | 114041000 | 114041094 |
| ENSE00001334957 | 114052052 | 114052155 |
| ENSE00001603051 | 113977783 | 113979422 |
| ENSE00001912227 | 114132435 | 114132623 |
| ENSE00003514006 | 114021404 | 114021508 |
| ENSE00003517174 | 114018104 | 114018252 |
| ENSE00003560806 | 114024279 | 114024355 |
| ENSE00003600219 | 114073720 | 114073837 |
| ENSE00003621816 | 114027389 | 114027461 |
| ENSE00003624165 | 114027847 | 114027927 |
| ENSE00003628538 | 114018763 | 114018919 |
| ENSE00003683454 | 114029811 | 114029887 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 96.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.5094 / max 362.0558, expressed in 1765 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 138407 | 22.5469 | 1758 |
| 138405 | 0.8437 | 499 |
| 138406 | 0.8288 | 480 |
| 138388 | 0.1325 | 52 |
| 138396 | 0.1027 | 54 |
| 138389 | 0.0548 | 32 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 96.15 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.74 | gold quality |
| leukocyte | CL:0000738 | 92.64 | gold quality |
| sural nerve | UBERON:0015488 | 92.33 | gold quality |
| monocyte | CL:0000576 | 92.32 | gold quality |
| blood | UBERON:0000178 | 90.83 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 90.38 | gold quality |
| lymph node | UBERON:0000029 | 89.88 | gold quality |
| adipose tissue | UBERON:0001013 | 89.64 | gold quality |
| right uterine tube | UBERON:0001302 | 89.38 | gold quality |
| tibial nerve | UBERON:0001323 | 88.98 | gold quality |
| omental fat pad | UBERON:0010414 | 88.70 | gold quality |
| endocervix | UBERON:0000458 | 88.64 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.27 | gold quality |
| mucosa of stomach | UBERON:0001199 | 86.99 | gold quality |
| temporal lobe | UBERON:0001871 | 86.70 | gold quality |
| amygdala | UBERON:0001876 | 86.68 | gold quality |
| ascending aorta | UBERON:0001496 | 86.66 | gold quality |
| thoracic aorta | UBERON:0001515 | 86.62 | gold quality |
| spleen | UBERON:0002106 | 86.50 | gold quality |
| primary visual cortex | UBERON:0002436 | 86.48 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 86.47 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 86.41 | gold quality |
| lower esophagus | UBERON:0013473 | 86.40 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.33 | gold quality |
| Ammon’s horn | UBERON:0001954 | 86.10 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 86.04 | gold quality |
| left uterine tube | UBERON:0001303 | 86.02 | gold quality |
| ectocervix | UBERON:0012249 | 85.85 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 85.81 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.70 |
| E-CURD-119 | yes | 4.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
37 targeting RASA3, 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-12113 | 99.32 | 67.54 | 1072 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-4504 | 99.10 | 69.14 | 1328 |
| HSA-MIR-1294 | 98.91 | 69.26 | 1030 |
| HSA-MIR-9986 | 98.91 | 69.28 | 1024 |
| HSA-MIR-4716-5P | 98.82 | 68.57 | 1168 |
| HSA-MIR-4297 | 98.77 | 66.95 | 2013 |
| HSA-MIR-758-3P | 98.42 | 68.60 | 1122 |
| HSA-MIR-4691-5P | 98.41 | 66.77 | 1343 |
| HSA-MIR-6792-3P | 98.41 | 66.86 | 1359 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-6771-3P | 98.20 | 66.53 | 971 |
| HSA-MIR-4769-3P | 97.95 | 68.17 | 1002 |
| HSA-MIR-6817-5P | 97.95 | 67.86 | 1026 |
| HSA-MIR-5581-5P | 97.91 | 66.50 | 965 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-194-3P | 97.36 | 65.96 | 1027 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-335-5P | 97.10 | 68.12 | 1022 |
Literature-anchored findings (GeneRIF, showing 6)
- role in intracellular calcium homeostasis (PMID:12356770)
- model in which the Ras GAP-related domain of GAP1(IP4BP) functions to stabilize the switch II region of Rap1, allowing stabilization of the transition state during GTP hydrolysis initiated by the arginine finger (PMID:19433443)
- the function of RASA3 during megakaryopoiesis, megakaryocyte adhesion and migration as well as integrin signaling has been reported. (PMID:25294679)
- these results support an important role for Rasa3 in PI3K-dependent integrin alphaIIbbeta3-mediated outside-in signaling and cell spreading. (PMID:27903653)
- Rasa3 is a critical regulator of Rap1 in endothelial cells which controls adhesions properties and vascular lumen integrity; its specific endothelial cell inactivation results in occluded blood vessels, hemorrhages and early embryonic death in mouse, mimicking thus the Rasa3-/- mouse phenotype. (PMID:29381707)
- GAP1IP4BP is an inositol 1,3,4,5-tetrakisphosphate regulated plasma membrane associated Ras and Rap GAP. Membrane association results from its PH domain binding phosphatidylinositol 4,5-bisphosphate. (PMID:7637787)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rasa3 | ENSDARG00000063371 |
| mus_musculus | Rasa3 | ENSMUSG00000031453 |
| rattus_norvegicus | Rasa3 | ENSRNOG00000017671 |
| drosophila_melanogaster | RasGAP1 | FBGN0004390 |
| drosophila_melanogaster | raskol | FBGN0261570 |
| caenorhabditis_elegans | WBGENE00001515 | |
| caenorhabditis_elegans | WBGENE00001516 |
Paralogs (10): RASAL2 (ENSG00000075391), RASAL3 (ENSG00000105122), RASA4 (ENSG00000105808), RASAL1 (ENSG00000111344), DAB2IP (ENSG00000136848), RASA1 (ENSG00000145715), RASA2 (ENSG00000155903), RASA4B (ENSG00000170667), NF1 (ENSG00000196712), SYNGAP1 (ENSG00000197283)
Protein
Protein identifiers
Ras GTPase-activating protein 3 — Q14644 (reviewed: Q14644)
Alternative names: GAP1(IP4BP), Ins P4-binding protein
All UniProt accessions (1): Q14644
UniProt curated annotations — full annotation on UniProt →
Function. Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor.
Subcellular location. Cell membrane.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14644-1 | 1 | yes |
| Q14644-2 | 2 |
RefSeq proteins (3): NP_001307750, NP_001307751, NP_031394* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR001562 | Znf_Btk_motif | Conserved_site |
| IPR001849 | PH_domain | Domain |
| IPR001936 | RasGAP_dom | Domain |
| IPR008936 | Rho_GTPase_activation_prot | Homologous_superfamily |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR023152 | RasGAP_CS | Conserved_site |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
| IPR037774 | RASA3_PH | Domain |
| IPR039360 | Ras_GTPase | Family |
Pfam: PF00168, PF00169, PF00616, PF00779
UniProt features (23 total): modified residue 6, binding site 4, domain 4, mutagenesis site 3, initiator methionine 1, chain 1, site 1, splice variant 1, sequence conflict 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14644-F1 | 84.79 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 371 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)
Ligand- & substrate-binding residues (4): 709; 687; 698; 699
Post-translational modifications (6): 2, 66, 77, 110, 809, 833
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 599 | no binding to ip4 and loss of plasma membrane localization. |
| 600 | no binding to ip4 and loss of plasma membrane localization. |
| 601 | no binding to ip4 and loss of plasma membrane localization. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5658442 | Regulation of RAS by GAPs |
MSigDB gene sets: 252 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_PLATELET_ACTIVATION, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_WOUND_HEALING, chr13q34, GOBP_RAS_PROTEIN_SIGNAL_TRANSDUCTION, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_DN, ATTCTTT_MIR186, TGACATY_UNKNOWN, MYB_Q3, ABBUD_LIF_SIGNALING_1_UP, RYTTCCTG_ETS2_B
GO Biological Process (7): signal transduction (GO:0007165), platelet activation (GO:0030168), intracellular signal transduction (GO:0035556), negative regulation of Ras protein signal transduction (GO:0046580), regulation of intracellular signal transduction (GO:1902531), response to stress (GO:0006950), regulation of GTPase activity (GO:0043087)
GO Molecular Function (4): GTPase activator activity (GO:0005096), calcium channel regulator activity (GO:0005246), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)
GO Cellular Component (4): cytosol (GO:0005829), cytoplasmic side of plasma membrane (GO:0009898), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RAF/MAP kinase cascade | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| GTPase activity | 2 |
| cellular anatomical structure | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| cell activation | 1 |
| blood coagulation | 1 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| Ras protein signal transduction | 1 |
| regulation of Ras protein signal transduction | 1 |
| negative regulation of small GTPase mediated signal transduction | 1 |
| regulation of signal transduction | 1 |
| intracellular signal transduction | 1 |
| response to stimulus | 1 |
| regulation of hydrolase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| calcium channel activity | 1 |
| ion channel regulator activity | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| plasma membrane | 1 |
| cytoplasmic side of membrane | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
796 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RASA3 | RAP1A | P10113 | 716 |
| RASA3 | PLEK2 | Q9NYT0 | 622 |
| RASA3 | PLEK | P08567 | 622 |
| RASA3 | RASGRP2 | Q7LDG7 | 571 |
| RASA3 | RRAS | P10301 | 570 |
| RASA3 | RASA1 | P20936 | 512 |
| RASA3 | RASGRP1 | O95267 | 508 |
| RASA3 | RASAL2 | Q9UJF2 | 480 |
| RASA3 | RAP1GAP | P47736 | 475 |
| RASA3 | AKT1 | P31749 | 454 |
| RASA3 | RAP1B | P09526 | 453 |
| RASA3 | CBL | P22681 | 421 |
| RASA3 | TNFAIP8 | O95379 | 416 |
| RASA3 | DAPP1 | Q9UN19 | 410 |
| RASA3 | ADAP1 | O75689 | 399 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| Mbd2 | MTA3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2D | BAG2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB18 | DNASE1L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (53): RASA3 (Co-fractionation), RASA3 (Affinity Capture-MS), RASA3 (Affinity Capture-MS), GNAI2 (Reconstituted Complex), GNAI3 (Reconstituted Complex), GNAI2 (Affinity Capture-Western), GNAI3 (Affinity Capture-Western), RASA3 (Affinity Capture-RNA), RASA3 (Affinity Capture-MS), RASA3 (Affinity Capture-MS), RASA3 (Proximity Label-MS), RASA3 (Proximity Label-MS), RASA3 (Proximity Label-MS), RASA3 (Proximity Label-MS), RASA3 (Affinity Capture-MS)
ESM2 similar proteins: A0AVI2, A0FGR9, A2AP18, A3KGK3, A6QQP7, F1LYQ8, F8VPU2, O00329, O08835, O14976, O15068, O35904, O75038, O75923, O94887, P19687, P40749, P50232, P58069, P97610, P97874, Q14644, Q15283, Q28013, Q5DTI8, Q5FWL4, Q5M7N9, Q5RAB8, Q5RJH2, Q60790, Q63406, Q63713, Q64096, Q6DN12, Q6P7F1, Q7L8C5, Q7ZWU7, Q8IV01, Q8VHQ7, Q91VS8
Diamond homologs: A6QQ91, F6SEU4, P48423, P97526, Q14644, Q15283, Q28013, Q3UHC7, Q54Y08, Q5VWQ8, Q60790, Q6P730, Q86YV0, Q8C2K5, Q8MLZ5, Q8T498, Q96PV0, Q9QUH6, Q9QYJ2, Q9UJF2, Q9Z268, A3KGK3, A8KBH6, B2RUP2, B3DLH6, C9J798, K8FE10, O00445, O08625, O35681, O43374, O43581, O75923, O95294, P04409, P05126, P05128, P05129, P05130, P05696
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
165 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 121 |
| Likely benign | 10 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 599497 | NM_007368.4(RASA3):c.892_895del (p.Asp298fs) | Pathogenic |
| 599498 | NM_007368.4(RASA3):c.254T>C (p.Val85Ala) | Likely pathogenic |
SpliceAI
6593 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:113979418:GCTCC:G | acceptor_gain | 1.0000 |
| 13:113979419:CTCC:C | acceptor_gain | 1.0000 |
| 13:113979419:CTCCC:C | acceptor_gain | 1.0000 |
| 13:113979420:TCC:T | acceptor_gain | 1.0000 |
| 13:113979420:TCCCT:T | acceptor_gain | 1.0000 |
| 13:113979421:CC:C | acceptor_gain | 1.0000 |
| 13:113979421:CCC:C | acceptor_gain | 1.0000 |
| 13:113979422:CC:C | acceptor_gain | 1.0000 |
| 13:113979423:C:CC | acceptor_gain | 1.0000 |
| 13:113979423:C:T | acceptor_gain | 1.0000 |
| 13:113979423:CTGA:C | acceptor_loss | 1.0000 |
| 13:113979424:T:C | acceptor_loss | 1.0000 |
| 13:113981671:TCACT:T | donor_loss | 1.0000 |
| 13:113981672:CAC:C | donor_loss | 1.0000 |
| 13:113981673:A:AC | donor_gain | 1.0000 |
| 13:113981673:ACT:A | donor_loss | 1.0000 |
| 13:113981673:ACTGG:A | donor_gain | 1.0000 |
| 13:113981674:C:CA | donor_gain | 1.0000 |
| 13:113981674:CT:C | donor_gain | 1.0000 |
| 13:113981674:CTGG:C | donor_gain | 1.0000 |
| 13:113981674:CTGGC:C | donor_gain | 1.0000 |
| 13:113981859:C:CC | acceptor_gain | 1.0000 |
| 13:113992480:CTCA:C | donor_loss | 1.0000 |
| 13:113992481:TCACC:T | donor_loss | 1.0000 |
| 13:113992482:CAC:C | donor_loss | 1.0000 |
| 13:113992483:A:AC | donor_gain | 1.0000 |
| 13:113992483:AC:A | donor_gain | 1.0000 |
| 13:113992484:C:A | donor_loss | 1.0000 |
| 13:113992484:C:CC | donor_gain | 1.0000 |
| 13:113992484:CC:C | donor_gain | 1.0000 |
AlphaMissense
5561 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:113996670:A:G | W668R | 1.000 |
| 13:113996670:A:T | W668R | 1.000 |
| 13:114000920:C:A | K585N | 1.000 |
| 13:114000920:C:G | K585N | 1.000 |
| 13:114011210:C:A | K517N | 1.000 |
| 13:114011210:C:G | K517N | 1.000 |
| 13:114011231:C:A | R510S | 1.000 |
| 13:114011231:C:G | R510S | 1.000 |
| 13:114011232:C:A | R510M | 1.000 |
| 13:114011232:C:G | R510T | 1.000 |
| 13:114013185:G:T | A490D | 1.000 |
| 13:114013200:C:A | R485M | 1.000 |
| 13:114013200:C:G | R485T | 1.000 |
| 13:114013203:A:G | L484P | 1.000 |
| 13:114015325:A:G | L430P | 1.000 |
| 13:114018851:A:G | L285P | 1.000 |
| 13:114018857:A:G | L283P | 1.000 |
| 13:114021458:C:T | G244E | 1.000 |
| 13:114029887:C:G | G125R | 1.000 |
| 13:114041041:A:G | W111R | 1.000 |
| 13:114041041:A:T | W111R | 1.000 |
| 13:114073768:A:G | L42P | 1.000 |
| 13:113981681:C:T | G808E | 0.999 |
| 13:113996729:A:T | V648D | 0.999 |
| 13:114000872:T:A | R601S | 0.999 |
| 13:114000872:T:G | R601S | 0.999 |
| 13:114000917:C:A | R586S | 0.999 |
| 13:114000917:C:G | R586S | 0.999 |
| 13:114000918:C:G | R586T | 0.999 |
| 13:114011193:C:T | G523D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000065173 (13:114042317 A>T), RS1000069060 (13:114002466 C>G,T), RS1000080103 (13:114090375 G>A), RS1000089611 (13:114109458 C>G), RS1000097152 (13:114063390 G>A,C), RS1000108898 (13:114100127 C>A,G,T), RS1000114781 (13:114016069 T>G), RS1000139018 (13:114055332 C>A,T), RS1000153473 (13:114109846 C>T), RS1000165958 (13:114039987 G>A,T), RS1000181054 (13:114073632 GA>G), RS1000189465 (13:114054979 T>C), RS1000198421 (13:114110323 C>T), RS1000205640 (13:114089951 G>A), RS1000221837 (13:114130933 C>T)
Disease associations
OMIM: gene MIM:605182 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007465_12 | Phoneme awareness | 6.000000e-06 |
| GCST009200_12 | Whole brain grey matter density | 3.000000e-06 |
| GCST010302_7 | Cutaneous melanoma or hair colour | 5.000000e-12 |
| GCST90002388_127 | Lymphocyte count | 3.000000e-34 |
| GCST90002388_128 | Lymphocyte count | 9.000000e-13 |
| GCST90002389_481 | Lymphocyte percentage of white cells | 2.000000e-13 |
| GCST90002389_482 | Lymphocyte percentage of white cells | 1.000000e-17 |
| GCST90002401_69 | Platelet distribution width | 1.000000e-10 |
| GCST90002407_616 | White blood cell count | 8.000000e-10 |
| GCST90006897_1 | Anti-Epstein-Barr virus IgG seropositivity | 2.000000e-08 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005301 | reading and spelling ability |
| EFO:0010306 | Grey matter density measurement |
| EFO:0003924 | hair color |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007984 | platelet component distribution width |
| EFO:0007034 | seropositivity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, increases expression | 3 |
| Estradiol | affects expression, affects cotreatment, increases expression | 3 |
| sodium arsenite | decreases expression, affects methylation | 2 |
| Benzo(a)pyrene | increases expression, affects methylation | 2 |
| Cisplatin | decreases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects methylation, affects cotreatment | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | decreases methylation | 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 | decreases expression | 1 |
| quinocetone | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects methylation, affects cotreatment | 1 |
| Glyphosate | increases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Azacitidine | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cutaneous melanoma