ARHGAP12
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Also known as FLJ20737FLJ10971FLJ21785
Summary
ARHGAP12 (Rho GTPase activating protein 12, HGNC:16348) is a protein-coding gene on chromosome 10p11.22, encoding Rho GTPase-activating protein 12 (Q8IWW6). GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 94134 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 131 total — 2 pathogenic
- MANE Select transcript:
NM_018287
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16348 |
| Approved symbol | ARHGAP12 |
| Name | Rho GTPase activating protein 12 |
| Location | 10p11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20737, FLJ10971, FLJ21785 |
| Ensembl gene | ENSG00000165322 |
| Ensembl biotype | protein_coding |
| OMIM | 610577 |
| Entrez | 94134 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 31 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000311380, ENST00000344936, ENST00000375245, ENST00000375250, ENST00000396144, ENST00000454919, ENST00000492028, ENST00000493008, ENST00000497085, ENST00000497103, ENST00000872611, ENST00000872612, ENST00000872613, ENST00000872614, ENST00000872615, ENST00000919762, ENST00000919763, ENST00000955735, ENST00000955736, ENST00000955737, ENST00000955738, ENST00000955739, ENST00000955740, ENST00000955741, ENST00000955742, ENST00000955743, ENST00000955744, ENST00000955745, ENST00000955746, ENST00000955747, ENST00000955748, ENST00000955749, ENST00000955750, ENST00000955751, ENST00000955752
RefSeq mRNA: 6 — MANE Select: NM_018287
NM_001270695, NM_001270696, NM_001270697, NM_001270698, NM_001270699, NM_018287
CCDS: CCDS59214, CCDS59215, CCDS59216, CCDS7170, CCDS73082
Canonical transcript exons
ENST00000344936 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001092088 | 31843461 | 31843586 |
| ENSE00001092094 | 31852517 | 31852597 |
| ENSE00001092095 | 31861395 | 31861658 |
| ENSE00001163893 | 31839637 | 31839711 |
| ENSE00001300227 | 31910525 | 31910563 |
| ENSE00001304383 | 31854066 | 31854206 |
| ENSE00001373213 | 31908172 | 31908926 |
| ENSE00001915056 | 31805398 | 31807832 |
| ENSE00001931342 | 31928683 | 31928831 |
| ENSE00002516115 | 31839305 | 31839319 |
| ENSE00003499385 | 31810649 | 31810747 |
| ENSE00003525621 | 31831739 | 31831800 |
| ENSE00003556241 | 31817788 | 31817886 |
| ENSE00003608447 | 31820387 | 31820488 |
| ENSE00003609003 | 31809230 | 31809307 |
| ENSE00003613326 | 31808994 | 31809128 |
| ENSE00003630534 | 31808649 | 31808751 |
| ENSE00003637343 | 31814259 | 31814361 |
| ENSE00003666611 | 31826304 | 31826385 |
| ENSE00003679471 | 31812707 | 31812823 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.27.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.0921 / max 145.5389, expressed in 1748 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 108976 | 13.8495 | 1735 |
| 108975 | 1.3161 | 782 |
| 108973 | 0.7603 | 331 |
| 108977 | 0.1662 | 71 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 98.27 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.10 | gold quality |
| tendon | UBERON:0000043 | 96.27 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.93 | silver quality |
| adrenal tissue | UBERON:0018303 | 94.79 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.77 | gold quality |
| spinal cord | UBERON:0002240 | 93.13 | gold quality |
| body of pancreas | UBERON:0001150 | 93.12 | gold quality |
| ventricular zone | UBERON:0003053 | 92.58 | gold quality |
| pancreas | UBERON:0001264 | 91.80 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.57 | gold quality |
| rectum | UBERON:0001052 | 91.35 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.34 | gold quality |
| tibial nerve | UBERON:0001323 | 91.04 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.90 | gold quality |
| colonic epithelium | UBERON:0000397 | 90.89 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.73 | gold quality |
| spleen | UBERON:0002106 | 90.29 | gold quality |
| endocervix | UBERON:0000458 | 90.15 | gold quality |
| body of stomach | UBERON:0001161 | 89.97 | gold quality |
| gall bladder | UBERON:0002110 | 89.89 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 89.82 | gold quality |
| stomach | UBERON:0000945 | 89.71 | gold quality |
| corpus epididymis | UBERON:0004359 | 89.61 | gold quality |
| mouth mucosa | UBERON:0003729 | 89.43 | gold quality |
| corpus callosum | UBERON:0002336 | 89.32 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.30 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.12 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 89.08 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
253 targeting ARHGAP12, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| 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-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
Literature-anchored findings (GeneRIF, showing 3)
- molecular cloning and characterization of ARHGAP12 (PMID:11854031)
- ARHGAP12 inactivates RAC1, thereby impairing cell motility, invasion and adhesion to the extracellular matrix. The gene is transcriptionally suppressed by Hepatocyte Growth Factor in vitro. (PMID:18504429)
- Met-driven invasive growth involves transcriptional regulation of Arhgap12. (PMID:18504429)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arhgap12a | ENSDARG00000008548 |
| danio_rerio | arhgap12b | ENSDARG00000026482 |
| mus_musculus | Arhgap12 | ENSMUSG00000041225 |
| rattus_norvegicus | Arhgap12 | ENSRNOG00000017791 |
| drosophila_melanogaster | RhoGAP16F | FBGN0030893 |
| caenorhabditis_elegans | WBGENE00008006 |
Paralogs (3): ARHGAP15 (ENSG00000075884), ARHGAP9 (ENSG00000123329), ARHGAP27 (ENSG00000159314)
Protein
Protein identifiers
Rho GTPase-activating protein 12 — Q8IWW6 (reviewed: Q8IWW6)
Alternative names: Rho-type GTPase-activating protein 12
All UniProt accessions (3): Q8IWW6, H0Y5D8, Q1RLN5
UniProt curated annotations — full annotation on UniProt →
Function. GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IWW6-1 | 1, ARHGAP12b | yes |
| Q8IWW6-2 | 2, ARHGAP12a | |
| Q8IWW6-3 | 3 | |
| Q8IWW6-4 | 4 |
RefSeq proteins (6): NP_001257624, NP_001257625, NP_001257626, NP_001257627, NP_001257628, NP_060757* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000198 | RhoGAP_dom | Domain |
| IPR001202 | WW_dom | Domain |
| IPR001452 | SH3_domain | Domain |
| IPR001849 | PH_domain | Domain |
| IPR008936 | Rho_GTPase_activation_prot | Homologous_superfamily |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR035491 | ARHGAP12_SH3 | Domain |
| IPR036020 | WW_dom_sf | Homologous_superfamily |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR050729 | Rho-GAP | Family |
Pfam: PF00018, PF00169, PF00397, PF00620, PF16618
UniProt features (33 total): modified residue 10, compositionally biased region 6, domain 5, region of interest 4, splice variant 3, sequence conflict 2, chain 1, site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IWW6-F1 | 67.68 | 0.36 |
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): 692 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)
Post-translational modifications (10): 165, 176, 201, 213, 215, 230, 231, 240, 243, 592
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013405 | RHOD GTPase cycle |
| R-HSA-9013424 | RHOV GTPase cycle |
| R-HSA-9035034 | RHOF GTPase cycle |
MSigDB gene sets: 272 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, MORF_MSH3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, CMYB_01, MORF_ATRX, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, AGTCTTA_MIR499, GGGCATT_MIR365, CATTTCA_MIR203, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2
GO Biological Process (7): morphogenesis of an epithelial sheet (GO:0002011), phagocytosis, engulfment (GO:0006911), actin filament organization (GO:0007015), small GTPase-mediated signal transduction (GO:0007264), negative regulation of small GTPase mediated signal transduction (GO:0051058), regulation of postsynapse assembly (GO:0150052), signal transduction (GO:0007165)
GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)
GO Cellular Component (5): phagocytic cup (GO:0001891), cytoplasm (GO:0005737), plasma membrane (GO:0005886), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 4 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| synapse | 2 |
| morphogenesis of an epithelium | 1 |
| phagocytosis | 1 |
| plasma membrane invagination | 1 |
| actin cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| intracellular signaling cassette | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of small GTPase mediated signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| regulation of synapse assembly | 1 |
| postsynapse assembly | 1 |
| regulation of postsynapse organization | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| plasma membrane | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1472 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARHGAP12 | PLEK2 | Q9NYT0 | 700 |
| ARHGAP12 | PLEK | P08567 | 690 |
| ARHGAP12 | LIN7C | Q9NUP9 | 463 |
| ARHGAP12 | HAUS8 | Q9BT25 | 440 |
| ARHGAP12 | TBC1D30 | Q9Y2I9 | 425 |
| ARHGAP12 | PHF3 | Q92576 | 423 |
| ARHGAP12 | NEO1 | Q92859 | 419 |
| ARHGAP12 | LHFPL2 | Q6ZUX7 | 415 |
| ARHGAP12 | RNF182 | Q8N6D2 | 415 |
| ARHGAP12 | NWD2 | Q9ULI1 | 403 |
| ARHGAP12 | H3BQ15 | H3BQ15 | 390 |
| ARHGAP12 | RASGEF1B | Q0VAM2 | 389 |
| ARHGAP12 | AMDHD2 | Q9Y303 | 388 |
| ARHGAP12 | DNAJC27 | Q9NZQ0 | 386 |
| ARHGAP12 | ARHGAP1 | Q07960 | 380 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARHGAP12 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| ARHGAP12 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| ARHGAP12 | MAGEB10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB5A | PSMD14 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ACTB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| ACTG1 | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP12 | WASL | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP12 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPK11 | OBSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| RBM15 | ILVBL | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (89): ARHGAP12 (Two-hybrid), ARHGAP12 (Affinity Capture-MS), MUC5B (Affinity Capture-MS), BPIFB1 (Affinity Capture-MS), DMBT1 (Affinity Capture-MS), IGHA1 (Affinity Capture-MS), ARHGAP12 (Affinity Capture-MS), ARHGAP12 (Proximity Label-MS), ARHGAP12 (Proximity Label-MS), ARHGAP12 (Two-hybrid), ARHGAP12 (Two-hybrid), ARHGAP12 (Two-hybrid), ARHGAP12 (Affinity Capture-MS), ARHGAP12 (Proximity Label-MS), ARHGAP12 (FRET)
ESM2 similar proteins: A2CEA7, A4IF90, B0S6J3, D3ZGS3, D4A208, F1LYQ8, F1M386, F1MSG6, F1P065, F1PBJ0, G5EDB9, H2KZZ6, O14827, O43295, O43307, O75044, P27671, P28818, P46941, P70392, Q13972, Q15057, Q3UTH8, Q45FX5, Q53QZ3, Q58DL7, Q5DU57, Q5FVC7, Q5ZMM3, Q6AYC5, Q6IVG4, Q6ZQK5, Q7Z6B7, Q811M1, Q812A2, Q8C0D4, Q8CHG7, Q8IWW6, Q8T0G4, Q8TEU7
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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ARHGAP12 | “down-regulates activity” | RAC1 | “gtpase-activating protein” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 18 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 |
|---|---|---|---|
| Clathrin-mediated endocytosis | 5 | 30.4× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
131 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 98 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1328108 | GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)x1 | Pathogenic |
| 4279341 | GRCh37/hg19 10p12.1-11.22(chr10:28970254-33231328)x1 | Pathogenic |
SpliceAI
3644 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:31807828:TAACT:T | acceptor_gain | 1.0000 |
| 10:31807831:CT:C | acceptor_gain | 1.0000 |
| 10:31808645:CTA:C | donor_loss | 1.0000 |
| 10:31808646:TA:T | donor_loss | 1.0000 |
| 10:31808647:A:C | donor_loss | 1.0000 |
| 10:31808648:CCTT:C | donor_gain | 1.0000 |
| 10:31808747:TTGCT:T | acceptor_gain | 1.0000 |
| 10:31808748:TGCT:T | acceptor_gain | 1.0000 |
| 10:31808750:CT:C | acceptor_gain | 1.0000 |
| 10:31808751:TCTGA:T | acceptor_loss | 1.0000 |
| 10:31808752:C:CA | acceptor_loss | 1.0000 |
| 10:31808752:C:CC | acceptor_gain | 1.0000 |
| 10:31808992:A:AC | donor_gain | 1.0000 |
| 10:31808993:C:CG | donor_gain | 1.0000 |
| 10:31808993:CTA:C | donor_gain | 1.0000 |
| 10:31808993:CTAA:C | donor_gain | 1.0000 |
| 10:31809124:CTCAT:C | acceptor_gain | 1.0000 |
| 10:31809126:CAT:C | acceptor_gain | 1.0000 |
| 10:31809127:ATCTG:A | acceptor_loss | 1.0000 |
| 10:31809128:TC:T | acceptor_loss | 1.0000 |
| 10:31809129:C:CC | acceptor_gain | 1.0000 |
| 10:31809129:CTGA:C | acceptor_loss | 1.0000 |
| 10:31809130:T:A | acceptor_loss | 1.0000 |
| 10:31809305:AACC:A | acceptor_loss | 1.0000 |
| 10:31809307:CCT:C | acceptor_loss | 1.0000 |
| 10:31809308:CT:C | acceptor_loss | 1.0000 |
| 10:31809309:T:A | acceptor_loss | 1.0000 |
| 10:31810643:TCTTA:T | donor_loss | 1.0000 |
| 10:31810644:CTTA:C | donor_loss | 1.0000 |
| 10:31810645:TTACC:T | donor_loss | 1.0000 |
AlphaMissense
5620 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:31807764:A:G | L812P | 1.000 |
| 10:31807773:C:T | G809D | 1.000 |
| 10:31807774:C:G | G809R | 1.000 |
| 10:31807779:A:T | V807D | 1.000 |
| 10:31808655:A:G | L787P | 1.000 |
| 10:31809053:C:G | R735P | 1.000 |
| 10:31809064:T:A | K731N | 1.000 |
| 10:31809064:T:G | K731N | 1.000 |
| 10:31809065:T:A | K731I | 1.000 |
| 10:31809068:A:G | L730P | 1.000 |
| 10:31809074:C:T | G728E | 1.000 |
| 10:31809075:C:G | G728R | 1.000 |
| 10:31809075:C:T | G728R | 1.000 |
| 10:31809099:A:G | W720R | 1.000 |
| 10:31809099:A:T | W720R | 1.000 |
| 10:31809250:A:G | L703P | 1.000 |
| 10:31809274:C:T | G695D | 1.000 |
| 10:31809282:T:A | R692S | 1.000 |
| 10:31809282:T:G | R692S | 1.000 |
| 10:31809283:C:G | R692T | 1.000 |
| 10:31809292:C:T | G689E | 1.000 |
| 10:31809293:C:A | G689W | 1.000 |
| 10:31809293:C:G | G689R | 1.000 |
| 10:31809293:C:T | G689R | 1.000 |
| 10:31812730:A:T | V643D | 1.000 |
| 10:31812745:G:T | P638H | 1.000 |
| 10:31812746:G:A | P638S | 1.000 |
| 10:31817823:A:G | W566R | 1.000 |
| 10:31817823:A:T | W566R | 1.000 |
| 10:31817858:A:G | L554P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000027426 (10:31928964 G>A,C), RS1000043857 (10:31891350 G>C), RS1000067292 (10:31889340 T>C), RS1000071350 (10:31847690 G>A), RS1000082144 (10:31847407 A>G), RS1000087003 (10:31895696 C>G), RS1000119057 (10:31917953 C>T), RS1000128246 (10:31898204 G>A), RS1000128439 (10:31855770 C>G), RS1000133158 (10:31813035 C>A), RS1000138678 (10:31887906 C>G), RS1000145916 (10:31826712 A>G), RS1000167473 (10:31822872 C>T), RS1000176127 (10:31864670 T>C), RS1000244782 (10:31915740 G>C)
Disease associations
OMIM: gene MIM:610577 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002424_4 | C-reactive protein levels | 3.000000e-06 |
| GCST004278_30 | Pulse pressure | 1.000000e-09 |
| GCST007096_63 | Pulse pressure | 3.000000e-09 |
| GCST007099_45 | Systolic blood pressure | 7.000000e-06 |
| GCST007638_41 | Glycine levels | 9.000000e-09 |
| GCST009158_6 | Uterine fibroids | 2.000000e-10 |
| GCST009725_90 | Intraocular pressure | 2.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0009767 | glycine measurement |
| EFO:0004695 | intraocular pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2799018 | Efficacy | 3 | methylphenidate | Attention Deficit Disorder with Hyperactivity |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2799018 | ARHGAP12 | 3 | 0.00 | 1 | methylphenidate |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression, affects cotreatment, increases abundance, increases expression | 5 |
| bisphenol A | decreases expression, increases expression | 2 |
| Arsenic | decreases expression, increases abundance, affects methylation, affects cotreatment | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 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): uterine corpus leiomyoma