RASA4
gene geneOn this page
Also known as KIAA0538CAPRIGAPL
Summary
RASA4 (RAS p21 protein activator 4, HGNC:23181) is a protein-coding gene on chromosome 7q22.1, encoding Ras GTPase-activating protein 4 (O43374). Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. It is a selective cancer dependency (DepMap: 27.8% of cell lines).
This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 10156 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 7 total
- Cancer dependency (DepMap): dependent in 27.8% of screened cell lines
- MANE Select transcript:
NM_006989
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23181 |
| Approved symbol | RASA4 |
| Name | RAS p21 protein activator 4 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0538, CAPRI, GAPL |
| Ensembl gene | ENSG00000105808 |
| Ensembl biotype | protein_coding |
| OMIM | 607943 |
| Entrez | 10156 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 17 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000262940, ENST00000449970, ENST00000461209, ENST00000462172, ENST00000519539, ENST00000519878, ENST00000520042, ENST00000520577, ENST00000521076, ENST00000521397, ENST00000521822, ENST00000521892, ENST00000522223, ENST00000522443, ENST00000522801, ENST00000523568, ENST00000903861, ENST00000903862, ENST00000903864, ENST00000903865, ENST00000916277, ENST00000960941, ENST00000960942, ENST00000960943, ENST00000960944
RefSeq mRNA: 2 — MANE Select: NM_006989
NM_001079877, NM_006989
CCDS: CCDS47674, CCDS5725
Canonical transcript exons
ENST00000262940 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001940252 | 102579646 | 102582892 |
| ENSE00003462000 | 102593707 | 102593844 |
| ENSE00003472352 | 102584218 | 102584338 |
| ENSE00003473120 | 102592285 | 102592454 |
| ENSE00003500506 | 102587635 | 102587770 |
| ENSE00003517971 | 102596012 | 102596129 |
| ENSE00003522646 | 102590159 | 102590296 |
| ENSE00003527553 | 102595634 | 102595784 |
| ENSE00003541845 | 102600257 | 102600388 |
| ENSE00003564446 | 102605858 | 102605987 |
| ENSE00003609935 | 102592994 | 102593138 |
| ENSE00003629408 | 102609341 | 102609454 |
| ENSE00003633920 | 102608761 | 102608822 |
| ENSE00003640475 | 102611086 | 102611142 |
| ENSE00003644844 | 102599860 | 102599954 |
| ENSE00003648115 | 102595305 | 102595369 |
| ENSE00003649430 | 102583004 | 102583068 |
| ENSE00003674737 | 102594447 | 102594559 |
| ENSE00003684400 | 102594050 | 102594242 |
| ENSE00003791683 | 102602324 | 102602405 |
| ENSE00003901398 | 102616625 | 102616756 |
Expression profiles
Bgee: expression breadth ubiquitous, 137 present calls, max score 98.61.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1199 / max 9.7597, expressed in 55 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85359 | 0.1199 | 55 |
Top tissues by expression
137 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 98.61 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.53 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.11 | gold quality |
| muscle of leg | UBERON:0001383 | 98.04 | gold quality |
| sural nerve | UBERON:0015488 | 96.43 | gold quality |
| right coronary artery | UBERON:0001625 | 95.78 | gold quality |
| granulocyte | CL:0000094 | 95.28 | gold quality |
| myometrium | UBERON:0001296 | 94.87 | gold quality |
| body of uterus | UBERON:0009853 | 94.75 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 94.59 | gold quality |
| endocervix | UBERON:0000458 | 94.24 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.12 | gold quality |
| vagina | UBERON:0000996 | 94.02 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.02 | gold quality |
| ectocervix | UBERON:0012249 | 93.89 | gold quality |
| muscle tissue | UBERON:0002385 | 93.85 | gold quality |
| tibial nerve | UBERON:0001323 | 93.60 | gold quality |
| right ovary | UBERON:0002118 | 93.48 | gold quality |
| adipose tissue | UBERON:0001013 | 93.29 | gold quality |
| uterine cervix | UBERON:0000002 | 93.24 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.19 | gold quality |
| right uterine tube | UBERON:0001302 | 93.07 | gold quality |
| lower esophagus | UBERON:0013473 | 92.80 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.80 | gold quality |
| pituitary gland | UBERON:0000007 | 92.51 | gold quality |
| temporal lobe | UBERON:0001871 | 92.51 | gold quality |
| fundus of stomach | UBERON:0001160 | 92.48 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.48 | gold quality |
| amygdala | UBERON:0001876 | 92.44 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.20 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 14.60 |
| E-GEOD-81547 | yes | 10.53 |
| E-ANND-3 | yes | 8.12 |
| E-MTAB-7303 | no | 582.48 |
| E-GEOD-100618 | no | 91.87 |
| E-MTAB-10137 | no | 7.16 |
| E-GEOD-125970 | no | 3.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
110 targeting RASA4, 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-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 27.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- CAPRI (Ca2+-promoted Ras inactivator) a Ca2+-dependent Ras GTPase-activating protein (Ras GAP). Switches off the Ras-MAPK pathway following G protein-coupled receptor stimulated intracellular Ca2+ elevation that recruits CAPRI to the plasma membrane. (PMID:11448776)
- CAPRI seems to low-pass filter the Ca2+ signal, converting different intensities of stimulation into different durations of Ras activity. (PMID:16009725)
- Ca2+-dependent monomer and dimer formation switches CAPRI Protein between Ras GTPase-activating protein (GAP) and RapGAP activities (PMID:21460216)
- RASA4 isoform 2 promoter methylation correlated with clinical parameters predicting poor prognosis (older age, elevated fetal hemoglobin), with higher risk of relapse after hematopoietic stem cell transplantation, and with PTPN11 mutation. (PMID:25147919)
- Treponema denticola-Induced RASA4 Upregulation Mediates Cytoskeletal Dysfunction and MMP-2 Activity in Periodontal Fibroblasts. (PMID:34094999)
- Ras inhibitor CAPRI enables neutrophil-like cells to chemotax through a higher-concentration range of gradients. (PMID:34675073)
- RASA4 inhibits the HIFalpha signaling pathway to suppress proliferation of cervical cancer cells. (PMID:34752201)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rasa4 | ENSDARG00000029372 |
| mus_musculus | Rasa4 | ENSMUSG00000004952 |
| rattus_norvegicus | Rasa4 | ENSRNOG00000001431 |
| drosophila_melanogaster | RasGAP1 | FBGN0004390 |
| drosophila_melanogaster | raskol | FBGN0261570 |
| caenorhabditis_elegans | WBGENE00001515 | |
| caenorhabditis_elegans | WBGENE00001516 |
Paralogs (10): RASAL2 (ENSG00000075391), RASAL3 (ENSG00000105122), RASAL1 (ENSG00000111344), DAB2IP (ENSG00000136848), RASA1 (ENSG00000145715), RASA2 (ENSG00000155903), RASA4B (ENSG00000170667), RASA3 (ENSG00000185989), NF1 (ENSG00000196712), SYNGAP1 (ENSG00000197283)
Protein
Protein identifiers
Ras GTPase-activating protein 4 — O43374 (reviewed: O43374)
Alternative names: Calcium-promoted Ras inactivator, Ras p21 protein activator 4, RasGAP-activating-like protein 2
All UniProt accessions (7): O43374, E5RGQ8, E5RID2, E5RK78, E7ERK1, H0YB35, H0YBU2
UniProt curated annotations — full annotation on UniProt →
Function. Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis.
Subcellular location. Cytoplasm. Cytosol. Cell membrane.
Tissue specificity. Widely expressed.
Cofactor. Binds 3 Ca(2+) ions per C2 domain.
Domain organisation. The PH domain does not bind phosphatidylinositol 4,5-bisphosphate or phosphatidylinositol 3,4,5-trisphosphate. This lack of binding activity is due to Leu-592, compared to Arg found in other family members.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43374-1 | 1 | yes |
| O43374-2 | 2 |
RefSeq proteins (2): NP_001073346, NP_008920* (*=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 |
| IPR037777 | RASA4_PH | Domain |
| IPR039360 | Ras_GTPase | Family |
Pfam: PF00168, PF00169, PF00616, PF00779
UniProt features (43 total): binding site 26, sequence conflict 6, domain 4, sequence variant 2, chain 1, site 1, splice variant 1, zinc finger region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43374-F1 | 86.33 | 0.56 |
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): 343 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)
Ligand- & substrate-binding residues (26): 74; 74; 76; 76; 76; 79; 82; 82; 149; 149; 155; 202 …
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5658442 | Regulation of RAS by GAPs |
MSigDB gene sets: 186 (showing top):
WALLACE_PROSTATE_CANCER_RACE_UP, RORA1_01, GOBP_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_RESPONSE_TO_METAL_ION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RAS_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, LIAO_METASTASIS
GO Biological Process (6): negative regulation of GTPase activity (GO:0034260), intracellular signal transduction (GO:0035556), negative regulation of Ras protein signal transduction (GO:0046580), cellular response to calcium ion (GO:0071277), regulation of intracellular signal transduction (GO:1902531), regulation of GTPase activity (GO:0043087)
GO Molecular Function (4): GTPase activator activity (GO:0005096), phospholipid binding (GO:0005543), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)
GO Cellular Component (4): cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737), 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 | 3 |
| cellular anatomical structure | 3 |
| intracellular anatomical structure | 2 |
| regulation of GTPase activity | 1 |
| negative regulation of biological process | 1 |
| negative regulation of hydrolase activity | 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 |
| response to calcium ion | 1 |
| cellular response to metal ion | 1 |
| regulation of signal transduction | 1 |
| intracellular signal transduction | 1 |
| regulation of hydrolase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| lipid binding | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
574 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RASA4 | RASGRP1 | O95267 | 825 |
| RASA4 | RABIF | P47224 | 625 |
| RASA4 | SCAF11 | Q99590 | 624 |
| RASA4 | RASGRP4 | Q8TDF6 | 581 |
| RASA4 | PLEK2 | Q9NYT0 | 557 |
| RASA4 | PLEK | P08567 | 554 |
| RASA4 | CASP14 | P31944 | 550 |
| RASA4 | TRPC3 | Q13507 | 531 |
| RASA4 | CCDC70 | Q6NSX1 | 524 |
| RASA4 | RND1 | Q92730 | 523 |
| RASA4 | SRC | P12931 | 515 |
| RASA4 | CDC42 | P21181 | 489 |
| RASA4 | TBL1X | O60907 | 478 |
| RASA4 | PUS10 | Q3MIT2 | 443 |
| RASA4 | PLCG2 | P16885 | 428 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PCNA | RASA4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| ACKR3 | PDE2A | psi-mi:“MI:0914”(association) | 0.350 |
| TUBB | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| RASA4 | JPT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RASA4 | APMAP | psi-mi:“MI:0915”(physical association) | 0.000 |
| RASA4 | ERBB3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RASA4 | OVGP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (5): RASA4 (Affinity Capture-MS), RASA4 (Reconstituted Complex), RASA4 (Affinity Capture-MS), RASA4 (Affinity Capture-MS), RASA4 (Affinity Capture-MS)
ESM2 similar proteins: A0A0B4J1F4, A0A0G2JXN2, A2AWP8, A2RRH5, C9J798, O43374, O70277, O95294, P04629, P59926, Q0GA42, Q13368, Q14318, Q16512, Q29RM4, Q2HY40, Q2T9P3, Q2TBA3, Q5BIM1, Q5M7W1, Q5R5M3, Q5R811, Q5T7P8, Q5XIS9, Q62746, Q6PFQ7, Q6PFY8, Q7TNM2, Q7TP90, Q7Z4K8, Q8BG60, Q8BHT7, Q8BQC3, Q8C6N3, Q8CIW5, Q8IZ69, Q8NCT1, Q920N2, Q92546, Q925B4
Diamond homologs: A0AVI2, A0JJX5, A3KGK3, B2RUP2, C9J798, O43374, O95294, P48231, Q2WGJ9, Q54E35, Q5SPC5, Q8L706, Q8L7A4, Q8W4D4, Q9ERC5, Q9ESF1, Q9FVJ3, Q9HC10, Q9R189, Q9UT00, A0A075F932, A0FGR9, K8FE10, O00445, O35681, O43581, O94812, P04409, P05128, P10829, P13677, P21521, P21579, P21707, P24505, P24506, P24507, P29101, P34693, P40748
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
7 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3356 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:102582748:G:C | donor_gain | 1.0000 |
| 7:102582774:CGT:C | donor_gain | 1.0000 |
| 7:102582893:C:CC | acceptor_gain | 1.0000 |
| 7:102583067:CC:C | acceptor_gain | 1.0000 |
| 7:102583068:CC:C | acceptor_gain | 1.0000 |
| 7:102584211:GACTC:G | donor_loss | 1.0000 |
| 7:102584212:ACTCA:A | donor_loss | 1.0000 |
| 7:102584214:TCA:T | donor_loss | 1.0000 |
| 7:102584215:CA:C | donor_loss | 1.0000 |
| 7:102584216:A:AC | donor_gain | 1.0000 |
| 7:102584216:A:C | donor_loss | 1.0000 |
| 7:102584216:AC:A | donor_gain | 1.0000 |
| 7:102584217:C:A | donor_loss | 1.0000 |
| 7:102584217:C:CC | donor_gain | 1.0000 |
| 7:102584217:CC:C | donor_gain | 1.0000 |
| 7:102584217:CCA:C | donor_gain | 1.0000 |
| 7:102584334:CTGAC:C | acceptor_gain | 1.0000 |
| 7:102584335:TGAC:T | acceptor_gain | 1.0000 |
| 7:102584336:GAC:G | acceptor_gain | 1.0000 |
| 7:102584337:AC:A | acceptor_gain | 1.0000 |
| 7:102584338:CC:C | acceptor_gain | 1.0000 |
| 7:102584339:C:CC | acceptor_gain | 1.0000 |
| 7:102584346:C:CT | acceptor_gain | 1.0000 |
| 7:102587769:CA:C | acceptor_gain | 1.0000 |
| 7:102587771:C:CC | acceptor_gain | 1.0000 |
| 7:102592280:CCCA:C | donor_gain | 1.0000 |
| 7:102592281:CCA:C | donor_loss | 1.0000 |
| 7:102592283:A:T | donor_loss | 1.0000 |
| 7:102592284:CC:C | donor_loss | 1.0000 |
| 7:102592453:CT:C | acceptor_gain | 1.0000 |
AlphaMissense
5224 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:102609420:A:G | W53R | 0.999 |
| 7:102609420:A:T | W53R | 0.999 |
| 7:102587665:A:G | W692R | 0.998 |
| 7:102587665:A:T | W692R | 0.998 |
| 7:102587749:A:G | W664R | 0.998 |
| 7:102587749:A:T | W664R | 0.998 |
| 7:102600361:A:G | W180R | 0.998 |
| 7:102600361:A:T | W180R | 0.998 |
| 7:102609418:C:A | W53C | 0.998 |
| 7:102609418:C:G | W53C | 0.998 |
| 7:102593707:C:A | K505N | 0.997 |
| 7:102593707:C:G | K505N | 0.997 |
| 7:102593789:G:T | A478D | 0.997 |
| 7:102600359:C:A | W180C | 0.997 |
| 7:102600359:C:G | W180C | 0.997 |
| 7:102602361:A:T | V158D | 0.997 |
| 7:102608805:C:T | G85E | 0.997 |
| 7:102609362:A:T | V72D | 0.997 |
| 7:102609419:C:G | W53S | 0.997 |
| 7:102611120:A:G | C30R | 0.997 |
| 7:102616650:C:A | G14W | 0.997 |
| 7:102593767:G:C | F485L | 0.996 |
| 7:102593767:G:T | F485L | 0.996 |
| 7:102593769:A:G | F485L | 0.996 |
| 7:102593777:G:T | P482H | 0.996 |
| 7:102593818:G:C | S468R | 0.996 |
| 7:102593818:G:T | S468R | 0.996 |
| 7:102593820:T:G | S468R | 0.996 |
| 7:102611123:A:C | Y29D | 0.996 |
| 7:102616650:C:G | G14R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1003473758 (7:102612371 G>T), RS1004679248 (7:102603865 C>A), RS1005660489 (7:102612329 G>GC), RS1006043556 (7:102596457 T>A,G), RS1012904728 (7:102613734 G>A), RS1014670600 (7:102603879 C>A), RS1028830161 (7:102595278 T>A,G), RS1035236572 (7:102612500 G>C), RS1041002414 (7:102608085 C>T), RS1049617355 (7:102611015 A>C,G), RS1060228 (7:102584251 T>C), RS111387683 (7:102589132 C>T), RS111563401 (7:102618273 C>T), RS112003076 (7:102603241 G>A,T), RS112083455 (7:102601172 C>A)
Disease associations
OMIM: gene MIM:607943 | 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 |
|---|---|---|
| GCST003837_4 | Chronotype | 8.000000e-15 |
| GCST003838_4 | Morning vs. evening chronotype | 7.000000e-07 |
| GCST010118_153 | Type 2 diabetes | 3.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, decreases expression | 4 |
| sodium arsenite | increases abundance, increases expression, affects cotreatment, decreases expression | 3 |
| aristolochic acid I | increases expression | 1 |
| afuresertib | increases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| asparanin A | increases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Glyphosate | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Niclosamide | increases expression | 1 |
| Phenylmercuric Acetate | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Lactic Acid | affects expression | 1 |
| S-Nitrosoglutathione | decreases expression | 1 |
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.