ARHGAP5
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Also known as RhoGAP5p190-Bp190BRhoGAP
Summary
ARHGAP5 (Rho GTPase activating protein 5, HGNC:675) is a protein-coding gene on chromosome 14q12, encoding Rho GTPase-activating protein 5 (Q13017). GTPase-activating protein for Rho family members.
Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 394 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 171 total — 1 pathogenic, 1 likely-pathogenic
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 5 cancer types
- MANE Select transcript:
NM_001030055
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:675 |
| Approved symbol | ARHGAP5 |
| Name | Rho GTPase activating protein 5 |
| Location | 14q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RhoGAP5, p190-B, p190BRhoGAP |
| Ensembl gene | ENSG00000100852 |
| Ensembl biotype | protein_coding |
| OMIM | 602680 |
| Entrez | 394 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 13 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000216743, ENST00000345122, ENST00000396582, ENST00000433497, ENST00000539826, ENST00000554090, ENST00000555814, ENST00000556191, ENST00000556611, ENST00000557643, ENST00000865796, ENST00000940433, ENST00000940434, ENST00000940435, ENST00000955200
RefSeq mRNA: 2 — MANE Select: NM_001030055
NM_001030055, NM_001173
CCDS: CCDS32062, CCDS45095
Canonical transcript exons
ENST00000345122 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001411690 | 32077304 | 32077435 |
| ENSE00003689798 | 32152423 | 32152528 |
| ENSE00003892241 | 32154621 | 32159728 |
| ENSE00003892259 | 32090502 | 32094386 |
| ENSE00003892737 | 32146263 | 32146340 |
| ENSE00003893291 | 32149902 | 32150033 |
| ENSE00003894587 | 32117140 | 32117287 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 98.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3709 / max 358.8404, expressed in 1636 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139111 | 5.5648 | 1478 |
| 139113 | 4.3415 | 1312 |
| 139109 | 0.6288 | 227 |
| 139112 | 0.5218 | 249 |
| 139110 | 0.2003 | 84 |
| 139115 | 0.1137 | 45 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.93 | gold quality |
| ventricular zone | UBERON:0003053 | 97.68 | gold quality |
| endothelial cell | CL:0000115 | 96.98 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 96.80 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.38 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.94 | gold quality |
| corpus callosum | UBERON:0002336 | 95.92 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.72 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.29 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.24 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.07 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.68 | gold quality |
| caput epididymis | UBERON:0004358 | 94.66 | gold quality |
| entorhinal cortex | UBERON:0002728 | 94.26 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.17 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.02 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.96 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.90 | gold quality |
| jejunal mucosa | UBERON:0000399 | 93.77 | gold quality |
| cauda epididymis | UBERON:0004360 | 93.71 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.44 | gold quality |
| postcentral gyrus | UBERON:0002581 | 93.28 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 93.13 | gold quality |
| oral cavity | UBERON:0000167 | 93.10 | gold quality |
| cranial nerve II | UBERON:0000941 | 93.00 | gold quality |
| myocardium | UBERON:0002349 | 92.81 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.72 | gold quality |
| parietal lobe | UBERON:0001872 | 92.62 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 92.30 | gold quality |
| occipital lobe | UBERON:0002021 | 92.19 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.13 |
| E-GEOD-135922 | yes | 8.15 |
| E-GEOD-124858 | no | 829.35 |
| E-MTAB-5061 | no | 3.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
269 targeting ARHGAP5, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
Literature-anchored findings (GeneRIF, showing 15)
- A cell cycle-regulated reduction in endogenous p190 levels is linked to completion of cytokinesis and generation of viable cell progeny. (PMID:14610059)
- precise control of p190-B Rho GTPase-activating protein activity is critical for normal branching morphogenesis during mammary gland development (PMID:16469769)
- ARHGAP5 (the gene encoding p190-B RhoGAP) is a probable target for the amplification at 14q12, and p190-B RhoGAP promotes cells spreading and migration by negatively regulating RhoA activity in Huh-7 hepatocellular carcinoma cells (PMID:18996642)
- Results link Cdk5 to Rho-ROCK signaling via Src and p190RhoGAP and implicate Cdk5 in the regulation of cell contraction, attachment, and migration. (PMID:19822667)
- The expression level of miR-486-5p was inversely correlated with that of ARHGAP5. (PMID:23474761)
- RhoA is down-regulated at cell-cell contacts via p190RhoGAP-B in response to tensional homeostasis. (PMID:23552690)
- Data indicate a role for p120-catenin (amino acids 820-843) domain in the p120-catenin.p190RhoGAP signaling complex assembly and membrane targeting. (PMID:23653363)
- Ectopic expression of p190B suppressed the miR-494-induced EGFR upregulation. (PMID:24316134)
- This newly identified miR-744/ARHGAP5 pathway provides further insight into the progression and metastasis of NPC and indicates potential novel therapeutic targets for NPC. (PMID:25961434)
- only collagen-IV elicits the formation of proteolytically active podosomes through a mechanism involving increased Src phosphorylation, p190RhoGAP-B (also known as ARHGAP5) relocalisation and MT1-MMP (also known as MMP14) cell surface exposure at podosome sites. (PMID:27231093)
- Brazilian Amerindian ancestry compared to Asian, European, and African Genomes.SNPs within or proximal to CIITA (rs6498115), SMC6 (rs1834619), and KLHL29 (rs2288697) were most differentiated in the Amerindian-specific branch. SNPs in ADAMTS9 (rs7631391), DOCK2 (rs77594147), SLC28A1 (rs28649017), ARHGAP5 (rs7151991), and CIITA (rs45601437) in the Asian comparison. (PMID:28100790)
- These results indicate that SIRT1 suppresses migration and invasion of gastric cancer by downregulating ARHGAP5 through an interaction with c-JUN, and these phenomena represent a novel mechanism of the antitumor action of SIRT1. (PMID:30250020)
- Investigation of the role and mechanism of ARHGAP5-mediated colorectal cancer metastasis. (PMID:32483433)
- The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay. (PMID:36178483)
- Circular RNA ARHGAP5 inhibits cisplatin resistance in cervical squamous cell carcinoma by interacting with AUF1. (PMID:36632741)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arhgap5 | ENSDARG00000061294 |
| mus_musculus | Arhgap5 | ENSMUSG00000035133 |
| rattus_norvegicus | Arhgap5 | ENSRNOG00000004696 |
Paralogs (2): TCERG1 (ENSG00000113649), TCERG1L (ENSG00000176769)
Protein
Protein identifiers
Rho GTPase-activating protein 5 — Q13017 (reviewed: Q13017)
Alternative names: Rho-type GTPase-activating protein 5, p190-B
All UniProt accessions (5): Q13017, G3V360, G3V444, G3V5I7, H0YK04
UniProt curated annotations — full annotation on UniProt →
Function. GTPase-activating protein for Rho family members.
Subunit / interactions. May interact with RASA1/p120GAP.
Subcellular location. Cytoplasm. Cell membrane.
Tissue specificity. Detected in skin fibroblasts (at protein level).
Domain organisation. The pG1 pseudoGTPase domain does not bind GTP.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13017-1 | 1 | yes |
| Q13017-2 | 2 | |
| Q13017-3 | 3 | |
| Q13017-4 | 4 |
RefSeq proteins (2): NP_001025226, NP_001164 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000198 | RhoGAP_dom | Domain |
| IPR002713 | FF_domain | Domain |
| IPR008936 | Rho_GTPase_activation_prot | Homologous_superfamily |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR032835 | RhoGAP-FF1 | Domain |
| IPR036517 | FF_domain_sf | Homologous_superfamily |
| IPR039006 | RhoGAP_pG2 | Domain |
| IPR039007 | pG1 | Domain |
| IPR045786 | RhoGAP_pG1_pG2 | Domain |
| IPR051978 | Rho-GAP_domain | Family |
| IPR057284 | FF_RHG35_4th | Domain |
Pfam: PF00620, PF01846, PF16512, PF19518, PF23083
UniProt features (65 total): helix 16, modified residue 11, strand 9, domain 7, region of interest 5, sequence conflict 5, splice variant 4, turn 3, compositionally biased region 2, chain 1, site 1, sequence variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5U4V | X-RAY DIFFRACTION | 2.6 |
| 2EE4 | SOLUTION NMR | |
| 2EE5 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13017-F1 | 73.37 | 0.40 |
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): 1297 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)
Post-translational modifications (11): 550, 590, 765, 951, 968, 1115, 1173, 1176, 1195, 1202, 1218
Function
Pathways and Gene Ontology
Reactome pathways
14 pathways
| ID | Pathway |
|---|---|
| R-HSA-8980692 | RHOA GTPase cycle |
| R-HSA-9013026 | RHOB GTPase cycle |
| R-HSA-9013106 | RHOC GTPase cycle |
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013405 | RHOD GTPase cycle |
| R-HSA-9013406 | RHOQ GTPase cycle |
| R-HSA-9013408 | RHOG GTPase cycle |
| R-HSA-9013409 | RHOJ GTPase cycle |
| R-HSA-9013423 | RAC3 GTPase cycle |
| R-HSA-9035034 | RHOF GTPase cycle |
| R-HSA-9696264 | RND3 GTPase cycle |
| R-HSA-9696270 | RND2 GTPase cycle |
| R-HSA-9696273 | RND1 GTPase cycle |
MSigDB gene sets: 363 (showing top):
BIOCARTA_RHO_PATHWAY, CREL_01, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, CCAWYNNGAAR_UNKNOWN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, TATTATA_MIR374, CTATGCA_MIR153, GGGTGGRR_PAX4_03, GTACAGG_MIR486, chr14q12, NFKB_C, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE
GO Biological Process (10): positive regulation of mesenchymal cell proliferation (GO:0002053), cell adhesion (GO:0007155), Rho protein signal transduction (GO:0007266), regulation of cell size (GO:0008361), epithelial cell migration (GO:0010631), positive regulation of epithelial cell migration (GO:0010634), mammary gland development (GO:0030879), regulation of small GTPase mediated signal transduction (GO:0051056), signal transduction (GO:0007165), cell migration (GO:0016477)
GO Molecular Function (4): GTPase activity (GO:0003924), GTPase activator activity (GO:0005096), SH2 domain binding (GO:0042169), protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 14 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cellular process | 2 |
| small GTPase-mediated signal transduction | 2 |
| cytoplasm | 2 |
| positive regulation of cell population proliferation | 1 |
| mesenchymal cell proliferation | 1 |
| regulation of mesenchymal cell proliferation | 1 |
| regulation of cellular component size | 1 |
| ameboidal-type cell migration | 1 |
| epithelium migration | 1 |
| epithelial cell migration | 1 |
| regulation of epithelial cell migration | 1 |
| positive regulation of cell migration | 1 |
| gland development | 1 |
| regulation of intracellular signal transduction | 1 |
| cell communication | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| cell motility | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| protein domain specific binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
992 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARHGAP5 | CTNND2 | Q9UQB3 | 787 |
| ARHGAP5 | AKT1 | P31749 | 779 |
| ARHGAP5 | RHOA | P06749 | 758 |
| ARHGAP5 | CTNND1 | O60716 | 733 |
| ARHGAP5 | RND3 | P52199 | 699 |
| ARHGAP5 | SRC | P12931 | 695 |
| ARHGAP5 | METTL3 | Q86U44 | 623 |
| ARHGAP5 | CDH17 | Q12864 | 579 |
| ARHGAP5 | KAZN | Q674X7 | 569 |
| ARHGAP5 | CDC42 | P21181 | 552 |
| ARHGAP5 | ITGA5 | P08648 | 515 |
| ARHGAP5 | ITGB1 | P05556 | 423 |
| ARHGAP5 | RALGAPA1 | Q6GYQ0 | 421 |
| ARHGAP5 | FAM91A1 | Q658Y4 | 417 |
| ARHGAP5 | HAUS8 | Q9BT25 | 408 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLK1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.790 |
| ARHGAP5 | SMURF2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| ARHGAP5 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ARHGAP5 | Rnd3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Rnd3 | ARHGAP5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ARHGAP5 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| KAZN | INPPL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SMURF2 | NEDD4 | psi-mi:“MI:0914”(association) | 0.350 |
| RETREG3 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
| CDH1 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PTPRU | ARHGAP5 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HSPA13 | ARHGAP5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (86): ARHGAP5 (Affinity Capture-RNA), ARHGAP5 (Proximity Label-MS), ARHGAP5 (Proximity Label-MS), ARHGAP5 (Affinity Capture-MS), ARHGAP5 (Affinity Capture-MS), ARHGAP5 (Affinity Capture-MS), RND3 (Two-hybrid), ARHGAP5 (Affinity Capture-MS), RND1 (Two-hybrid), RND2 (Two-hybrid), ARHGAP5 (Affinity Capture-Western), ARHGAP5 (Affinity Capture-Western), ARHGAP5 (Affinity Capture-Western), ARHGAP5 (Affinity Capture-Western), ARHGAP5 (Reconstituted Complex)
ESM2 similar proteins: A0A0G2K344, A0A3Q1N1R0, E1BKH1, G3GTP0, G5EF51, O13728, O70481, P06814, P16259, P16885, P20807, P24135, P32871, P34529, P35875, P42336, P42337, P43368, P49917, P51186, P97393, Q09879, Q11208, Q13017, Q32TF8, Q32TG3, Q4V8Q1, Q5JST6, Q5JVL4, Q5R6L3, Q64691, Q6GL75, Q6GQ76, Q6J756, Q6NU25, Q758X6, Q803R5, Q8BTF7, Q8BTI9, Q8CIH5
Diamond homologs: A0A0G2JTR4, A1A4S6, A2AB59, A2RUV4, A4IF90, A4II46, A6QNS3, A6X8Z5, A7KAX9, A7YY57, A8WRJ2, D3ZFJ3, E7EZG2, E7F3F0, F1LXF1, O14559, O94466, P11274, P15882, P30337, P34288, P38339, P46941, P52757, P55194, P81128, P97393, Q03070, Q08DP6, Q10164, Q12979, Q13017, Q15311, Q17QN0, Q20498, Q2M1Z3, Q3TBD2, Q3UIA2, Q52LW3, Q53QZ3
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PTK6 | up-regulates | ARHGAP5 | phosphorylation |
| ARHGAP5 | “down-regulates activity” | RHOA | “gtpase-activating protein” |
| SRC | “up-regulates activity” | ARHGAP5 | phosphorylation |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 5 cancer types — BLCA, PAAD, PCM, PLMESO, WDTC.
Clinical variants and AI predictions
ClinVar
171 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 156 |
| Likely benign | 2 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1696854 | NM_001030055.2(ARHGAP5):c.1421T>C (p.Val474Ala) | Pathogenic |
| 1679912 | NM_001030055.2(ARHGAP5):c.2366dup (p.Phe790fs) | Likely pathogenic |
SpliceAI
1125 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:32090497:TATA:T | acceptor_loss | 1.0000 |
| 14:32090499:TAG:T | acceptor_loss | 1.0000 |
| 14:32090500:AGGA:A | acceptor_loss | 1.0000 |
| 14:32090501:G:GA | acceptor_loss | 1.0000 |
| 14:32117138:A:AG | acceptor_gain | 1.0000 |
| 14:32117139:G:GG | acceptor_gain | 1.0000 |
| 14:32117139:GCA:G | acceptor_gain | 1.0000 |
| 14:32146259:TTAG:T | acceptor_loss | 1.0000 |
| 14:32146261:A:AG | acceptor_gain | 1.0000 |
| 14:32146261:A:G | acceptor_loss | 1.0000 |
| 14:32146261:AG:A | acceptor_gain | 1.0000 |
| 14:32146261:AGG:A | acceptor_gain | 1.0000 |
| 14:32146262:G:A | acceptor_loss | 1.0000 |
| 14:32146262:G:GC | acceptor_gain | 1.0000 |
| 14:32146262:GG:G | acceptor_gain | 1.0000 |
| 14:32146262:GGG:G | acceptor_gain | 1.0000 |
| 14:32146262:GGGT:G | acceptor_gain | 1.0000 |
| 14:32146262:GGGTT:G | acceptor_gain | 1.0000 |
| 14:32146341:G:GA | donor_loss | 1.0000 |
| 14:32146341:G:GG | donor_gain | 1.0000 |
| 14:32146342:T:G | donor_loss | 1.0000 |
| 14:32149897:TGTA:T | acceptor_loss | 1.0000 |
| 14:32149899:TA:T | acceptor_loss | 1.0000 |
| 14:32149900:A:AC | acceptor_loss | 1.0000 |
| 14:32149900:A:AG | acceptor_gain | 1.0000 |
| 14:32149901:G:GA | acceptor_gain | 1.0000 |
| 14:32149901:GAT:G | acceptor_gain | 1.0000 |
| 14:32149901:GATC:G | acceptor_gain | 1.0000 |
| 14:32149901:GATCA:G | acceptor_gain | 1.0000 |
| 14:32150029:AGCAA:A | donor_gain | 1.0000 |
AlphaMissense
10024 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:32090724:G:A | G19R | 1.000 |
| 14:32090724:G:C | G19R | 1.000 |
| 14:32090725:G:A | G19E | 1.000 |
| 14:32090766:G:A | G33R | 1.000 |
| 14:32090766:G:C | G33R | 1.000 |
| 14:32090767:G:A | G33E | 1.000 |
| 14:32090769:A:C | K34Q | 1.000 |
| 14:32090773:C:T | S35F | 1.000 |
| 14:32090839:T:C | L57P | 1.000 |
| 14:32090841:A:C | S58R | 1.000 |
| 14:32090842:G:T | S58I | 1.000 |
| 14:32090843:C:A | S58R | 1.000 |
| 14:32090843:C:G | S58R | 1.000 |
| 14:32090850:G:C | D61H | 1.000 |
| 14:32090851:A:C | D61A | 1.000 |
| 14:32090851:A:G | D61G | 1.000 |
| 14:32090851:A:T | D61V | 1.000 |
| 14:32090853:T:C | F62L | 1.000 |
| 14:32090854:T:C | F62S | 1.000 |
| 14:32090855:T:A | F62L | 1.000 |
| 14:32090855:T:G | F62L | 1.000 |
| 14:32090873:C:A | N68K | 1.000 |
| 14:32090873:C:G | N68K | 1.000 |
| 14:32090892:T:A | W75R | 1.000 |
| 14:32090892:T:C | W75R | 1.000 |
| 14:32090961:T:C | F98L | 1.000 |
| 14:32090962:T:C | F98S | 1.000 |
| 14:32090963:C:A | F98L | 1.000 |
| 14:32090963:C:G | F98L | 1.000 |
| 14:32090971:A:T | D101V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000009796 (14:32151419 T>C), RS1000041778 (14:32108919 A>C,G), RS1000110961 (14:32088092 T>C), RS1000132040 (14:32128494 C>T), RS1000154511 (14:32160075 G>A,T), RS1000165525 (14:32145415 C>G), RS1000277263 (14:32102037 C>T), RS1000302700 (14:32109157 G>C), RS1000360981 (14:32144210 G>A), RS1000366295 (14:32074026 T>G), RS1000375812 (14:32112646 G>A,T), RS1000402676 (14:32095735 T>G), RS1000428669 (14:32145668 T>G), RS1000465149 (14:32106973 C>T), RS1000508917 (14:32156192 G>A)
Disease associations
OMIM: gene MIM:602680 | disease phenotypes: MIM:212720
GenCC curated gene-disease
Mondo (1): Martsolf syndrome 1 (MONDO:8000008)
Orphanet (1): Cataract-intellectual disability-hypogonadism syndrome (Orphanet:1387)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005212_24 | Asthma | 4.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536028 | Martsolf syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
58 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases expression, affects expression, affects cotreatment | 9 |
| methylmercuric chloride | decreases expression | 3 |
| trichostatin A | decreases expression, affects cotreatment | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Cadmium Chloride | increases expression, decreases expression, increases abundance | 3 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Cisplatin | decreases expression, increases expression | 2 |
| Lactic Acid | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Irinotecan | decreases expression, 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): Martsolf syndrome 1