RALGPS1
gene geneOn this page
Also known as RALGPS1ARALGEF2KIAA0351
Summary
RALGPS1 (Ral GEF with PH domain and SH3 binding motif 1, HGNC:16851) is a protein-coding gene on chromosome 9q33.3, encoding Ras-specific guanine nucleotide-releasing factor RalGPS1 (Q5JS13). Guanine nucleotide exchange factor (GEF) for the small GTPase RALA.
Enables guanyl-nucleotide exchange factor activity. Involved in regulation of Ral protein signal transduction. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane.
Source: NCBI Gene 9649 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 54 total
- MANE Select transcript:
NM_014636
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16851 |
| Approved symbol | RALGPS1 |
| Name | Ral GEF with PH domain and SH3 binding motif 1 |
| Location | 9q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RALGPS1A, RALGEF2, KIAA0351 |
| Ensembl gene | ENSG00000136828 |
| Ensembl biotype | protein_coding |
| OMIM | 614444 |
| Entrez | 9649 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 16 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000259351, ENST00000319107, ENST00000373434, ENST00000373436, ENST00000373439, ENST00000394011, ENST00000394022, ENST00000424082, ENST00000438723, ENST00000467325, ENST00000471643, ENST00000472427, ENST00000477700, ENST00000480993, ENST00000903174, ENST00000903175, ENST00000903176, ENST00000921398, ENST00000921399, ENST00000921400, ENST00000921401, ENST00000968097
RefSeq mRNA: 13 — MANE Select: NM_014636
NM_001190728, NM_001190729, NM_001190730, NM_001322320, NM_001322321, NM_001322322, NM_001322323, NM_001322324, NM_001322325, NM_001366399, NM_001366400, NM_001366401, NM_014636
CCDS: CCDS35143, CCDS55344, CCDS55345, CCDS55346, CCDS94484
Canonical transcript exons
ENST00000259351 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000806793 | 127196474 | 127196631 |
| ENSE00000806794 | 127199015 | 127199066 |
| ENSE00001399772 | 126914782 | 126914975 |
| ENSE00001615084 | 127174715 | 127174782 |
| ENSE00001642587 | 127218740 | 127223166 |
| ENSE00001705184 | 127168679 | 127168772 |
| ENSE00001758580 | 127166069 | 127166206 |
| ENSE00001782812 | 127195091 | 127195217 |
| ENSE00003467780 | 127034431 | 127034514 |
| ENSE00003478854 | 127052847 | 127052939 |
| ENSE00003529241 | 127212131 | 127212236 |
| ENSE00003548747 | 127212944 | 127213049 |
| ENSE00003550853 | 127212627 | 127212719 |
| ENSE00003617599 | 126965844 | 126965951 |
| ENSE00003618467 | 127214751 | 127214842 |
| ENSE00003620578 | 126977695 | 126977745 |
| ENSE00003628748 | 127050043 | 127050132 |
| ENSE00003651353 | 126962225 | 126962346 |
| ENSE00003660119 | 127069230 | 127069356 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 96.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.8756 / max 217.5538, expressed in 1287 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 98580 | 6.5606 | 1283 |
| 98582 | 0.1984 | 119 |
| 98581 | 0.1167 | 65 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 96.79 | gold quality |
| jejunal mucosa | UBERON:0000399 | 93.19 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.77 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.15 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.13 | gold quality |
| cerebellum | UBERON:0002037 | 91.73 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.71 | gold quality |
| spinal cord | UBERON:0002240 | 90.42 | gold quality |
| duodenum | UBERON:0002114 | 90.30 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.29 | gold quality |
| cerebellar vermis | UBERON:0004720 | 90.25 | gold quality |
| endothelial cell | CL:0000115 | 89.71 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.69 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.59 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.57 | gold quality |
| apex of heart | UBERON:0002098 | 88.57 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.94 | gold quality |
| occipital lobe | UBERON:0002021 | 87.85 | gold quality |
| small intestine | UBERON:0002108 | 87.83 | gold quality |
| right uterine tube | UBERON:0001302 | 87.73 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.66 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.59 | gold quality |
| neocortex | UBERON:0001950 | 87.29 | gold quality |
| frontal cortex | UBERON:0001870 | 87.28 | gold quality |
| postcentral gyrus | UBERON:0002581 | 87.22 | gold quality |
| pituitary gland | UBERON:0000007 | 87.20 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 87.01 | gold quality |
| corpus callosum | UBERON:0002336 | 86.87 | gold quality |
| cerebral cortex | UBERON:0000956 | 86.85 | gold quality |
| central nervous system | UBERON:0001017 | 86.82 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.97 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): IRX1
miRNA regulators (miRDB)
251 targeting RALGPS1, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
Literature-anchored findings (GeneRIF, showing 2)
- The guanine-nucleotide exchange factor (GEF) RalGPS1a activates small GTPase Ral proteins such as RalA and RalB by stimulating the exchange of Ral bound GDP to GTP, thus regulating various downstream cellular processes. (PMID:21494904)
- Ral GEF with the PH Domain and SH3 Binding Motif 1 Regulated by Splicing Factor Junction Plakoglobin and Pyrimidine Metabolism Are Prognostic in Uterine Carcinosarcoma. (PMID:34745385)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ralgps1 | ENSDARG00000068370 |
| mus_musculus | Ralgps1 | ENSMUSG00000038831 |
| rattus_norvegicus | Ralgps1 | ENSRNOG00000016910 |
Paralogs (24): RASGRF1 (ENSG00000058335), RASGRP2 (ENSG00000068831), RAPGEF3 (ENSG00000079337), RAPGEF4 (ENSG00000091428), SOS2 (ENSG00000100485), RAPGEF1 (ENSG00000107263), RAPGEFL1 (ENSG00000108352), RAPGEF2 (ENSG00000109756), RASGRF2 (ENSG00000113319), SOS1 (ENSG00000115904), RALGPS2 (ENSG00000116191), RAPGEF5 (ENSG00000136237), RASGEF1B (ENSG00000138670), RGL1 (ENSG00000143344), RASGEF1C (ENSG00000146090), RASGRP3 (ENSG00000152689), RAPGEF6 (ENSG00000158987), RGL4 (ENSG00000159496), RALGDS (ENSG00000160271), RASGRP4 (ENSG00000171777), RASGRP1 (ENSG00000172575), RASGEF1A (ENSG00000198915), RGL3 (ENSG00000205517), RGL2 (ENSG00000237441)
Protein
Protein identifiers
Ras-specific guanine nucleotide-releasing factor RalGPS1 — Q5JS13 (reviewed: Q5JS13)
Alternative names: Ral GEF with PH domain and SH3-binding motif 1, Ral guanine nucleotide exchange factor 2, RalA exchange factor RalGPS1
All UniProt accessions (3): Q5JS13, H0Y6A2, Q5JT61
UniProt curated annotations — full annotation on UniProt →
Function. Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization. Guanine nucleotide exchange factor for.
Subunit / interactions. Interacts with the SH3 domains of GRB2, NCK1, PLCG1 and SRC.
Subcellular location. Cytoplasm. Cell membrane.
Tissue specificity. Widely expressed (at protein level). Isoform 2 is expressed in brain, colon, kidney, pancreas, prostate, skeletal muscle, small intestine, testis, thymus and uterus. Isoform 1 is expressed at high levels in heart and testis and at lower levels in brain, pancreas, skeletal muscle, small intestine and thymus.
Domain organisation. The PH domain mediates binding to membranes. It is required for efficient GEF activity.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5JS13-1 | 1, RALGPS1B | yes |
| Q5JS13-2 | 2, RALGPS1A | |
| Q5JS13-3 | 3 | |
| Q5JS13-4 | 4 | |
| Q5JS13-5 | 5 | |
| Q5JS13-6 | 6 | |
| Q5JS13-7 | 7 |
RefSeq proteins (13): NP_001177657, NP_001177658, NP_001177659, NP_001309249, NP_001309250, NP_001309251, NP_001309252, NP_001309253, NP_001309254, NP_001353328, NP_001353329, NP_001353330, NP_055451* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001849 | PH_domain | Domain |
| IPR001895 | RASGEF_cat_dom | Domain |
| IPR008937 | Ras-like_GEF | Family |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR023578 | Ras_GEF_dom_sf | Homologous_superfamily |
| IPR036964 | RASGEF_cat_dom_sf | Homologous_superfamily |
Pfam: PF00169, PF00617
UniProt features (43 total): helix 16, splice variant 11, sequence conflict 3, region of interest 3, domain 2, compositionally biased region 2, chain 1, sequence variant 1, mutagenesis site 1, turn 1, strand 1, short sequence motif 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3QXL | X-RAY DIFFRACTION | 2.24 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5JS13-F1 | 75.96 | 0.57 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 148 | loss of activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 168 (showing top):
BROWNE_HCMV_INFECTION_30MIN_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, CACCAGC_MIR138, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, MODULE_66, BLALOCK_ALZHEIMERS_DISEASE_UP, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GCM_NF2, GGTGAAG_MIR412, MODULE_11, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, TGCCTTA_MIR124A
GO Biological Process (4): Ras protein signal transduction (GO:0007265), regulation of Ral protein signal transduction (GO:0032485), intracellular signal transduction (GO:0035556), small GTPase-mediated signal transduction (GO:0007264)
GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular anatomical structure | 2 |
| cellular anatomical structure | 2 |
| small GTPase-mediated signal transduction | 1 |
| Ral protein signal transduction | 1 |
| regulation of small GTPase mediated signal transduction | 1 |
| signal transduction | 1 |
| intracellular signaling cassette | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1382 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RALGPS1 | NUTM2G | Q5VZR2 | 594 |
| RALGPS1 | GARNL3 | Q5VVW2 | 548 |
| RALGPS1 | RALB | P11234 | 510 |
| RALGPS1 | RALA | P11233 | 508 |
| RALGPS1 | RALGAPB | Q86X10 | 508 |
| RALGPS1 | RTL9 | Q8NET4 | 486 |
| RALGPS1 | DPM2 | O94777 | 475 |
| RALGPS1 | NUGGC | Q68CJ6 | 450 |
| RALGPS1 | MAP7D2 | Q96T17 | 427 |
| RALGPS1 | UQCC6 | Q69YU5 | 425 |
| RALGPS1 | RALGAPA1 | Q6GYQ0 | 417 |
| RALGPS1 | REPS2 | Q8NFH8 | 403 |
| RALGPS1 | VPS50 | Q96JG6 | 380 |
| RALGPS1 | GASK1B | Q6UWH4 | 361 |
| RALGPS1 | SPNS3 | Q6ZMD2 | 360 |
| RALGPS1 | ZNF395 | Q9H8N7 | 360 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| Dlg4 | RALGPS1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| C2orf88 | RALGPS1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RHOG | COPE | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (15): RALGPS1 (Affinity Capture-RNA), RALGPS1 (Positive Genetic), RALGPS1 (Synthetic Lethality), RALGPS1 (Two-hybrid), RALA (Biochemical Activity), GRB2 (Affinity Capture-Western), NCK1 (Affinity Capture-Western), RALGPS1 (Affinity Capture-RNA), RALGPS1 (Cross-Linking-MS (XL-MS)), RALGPS1 (Co-fractionation), RALGPS1 (Co-fractionation), RALGPS1 (Reconstituted Complex), RALGPS1 (Affinity Capture-RNA), APP (Reconstituted Complex), RALGPS1 (Two-hybrid)
ESM2 similar proteins: A2AR50, B0UXH6, D3ZAZ5, D4AB98, F1M386, F1MSG6, F1PBJ0, F7EL49, O60343, O75044, O97790, P0CE43, P42331, Q00IB7, Q13905, Q14155, Q15678, Q28CB1, Q4R7W3, Q58DL5, Q5JS13, Q5U2Z7, Q5ZJK0, Q60695, Q60949, Q62130, Q62136, Q6INE5, Q6INP9, Q6P112, Q6P549, Q7Z6B7, Q80TI1, Q86TI0, Q86X27, Q8BYJ6, Q8BYW1, Q8C4V1, Q8CHG7, Q8IV61
Diamond homologs: A2AR50, A2CEA7, B0M0P8, B0UXH6, F1M386, F1MSG6, F1PBJ0, O14827, P27671, P28818, P70392, Q03385, Q03386, Q07889, Q07890, Q12967, Q13905, Q13972, Q3MIN7, Q3UYI5, Q4R7W3, Q54FF3, Q54PQ4, Q54TK8, Q552M5, Q55GH9, Q5JS13, Q5ZJK0, Q60695, Q86G47, Q86X27, Q8CHG7, Q8IS14, Q8IS15, Q8IS16, Q8IS18, Q8IS20, Q8IS21, Q8SSQ0, Q8SSW7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IRX1 | “up-regulates quantity by expression” | RALGPS1 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6291 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:126952903:G:GT | donor_gain | 1.0000 |
| 9:126952960:G:GT | donor_gain | 1.0000 |
| 9:126965842:AG:A | acceptor_gain | 1.0000 |
| 9:126965843:GG:G | acceptor_gain | 1.0000 |
| 9:126965843:GGGC:G | acceptor_gain | 1.0000 |
| 9:126965843:GGGCA:G | acceptor_gain | 1.0000 |
| 9:126965948:TGCT:T | donor_gain | 1.0000 |
| 9:126965948:TGCTG:T | donor_loss | 1.0000 |
| 9:126965949:GCT:G | donor_gain | 1.0000 |
| 9:126965949:GCTG:G | donor_gain | 1.0000 |
| 9:126965950:CT:C | donor_gain | 1.0000 |
| 9:126965950:CTGT:C | donor_loss | 1.0000 |
| 9:126965951:TGTAA:T | donor_loss | 1.0000 |
| 9:126965952:G:GG | donor_gain | 1.0000 |
| 9:126965952:GT:G | donor_loss | 1.0000 |
| 9:126965953:TAAGT:T | donor_loss | 1.0000 |
| 9:127052935:GGGCT:G | donor_gain | 1.0000 |
| 9:127052936:GGCT:G | donor_gain | 1.0000 |
| 9:127052936:GGCTG:G | donor_gain | 1.0000 |
| 9:127052937:GCT:G | donor_gain | 1.0000 |
| 9:127052937:GCTG:G | donor_gain | 1.0000 |
| 9:127052940:G:GG | donor_gain | 1.0000 |
| 9:127069223:A:AG | acceptor_gain | 1.0000 |
| 9:127069226:CTA:C | acceptor_loss | 1.0000 |
| 9:127069227:TA:T | acceptor_loss | 1.0000 |
| 9:127069228:A:AG | acceptor_gain | 1.0000 |
| 9:127069228:AGCT:A | acceptor_loss | 1.0000 |
| 9:127069229:G:GA | acceptor_gain | 1.0000 |
| 9:127069229:GC:G | acceptor_gain | 1.0000 |
| 9:127069229:GCT:G | acceptor_gain | 1.0000 |
AlphaMissense
3656 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:126965950:C:A | A55D | 1.000 |
| 9:126977705:C:A | T59K | 1.000 |
| 9:126977735:T:A | I69N | 1.000 |
| 9:127034435:T:C | L74P | 1.000 |
| 9:127034449:T:A | W79R | 1.000 |
| 9:127034449:T:C | W79R | 1.000 |
| 9:127034451:G:C | W79C | 1.000 |
| 9:127034451:G:T | W79C | 1.000 |
| 9:127034506:T:C | F98L | 1.000 |
| 9:127034508:T:A | F98L | 1.000 |
| 9:127034508:T:G | F98L | 1.000 |
| 9:127034511:C:A | N99K | 1.000 |
| 9:127034511:C:G | N99K | 1.000 |
| 9:127050052:T:A | W104R | 1.000 |
| 9:127050052:T:C | W104R | 1.000 |
| 9:127050071:T:A | L110Q | 1.000 |
| 9:127050071:T:C | L110P | 1.000 |
| 9:127050094:A:G | R118G | 1.000 |
| 9:127050094:A:T | R118W | 1.000 |
| 9:127050095:G:C | R118T | 1.000 |
| 9:127050095:G:T | R118M | 1.000 |
| 9:127050096:G:C | R118S | 1.000 |
| 9:127050096:G:T | R118S | 1.000 |
| 9:127050097:G:C | A119P | 1.000 |
| 9:127050107:T:C | L122P | 1.000 |
| 9:127050128:C:A | A129D | 1.000 |
| 9:127052851:T:C | L132P | 1.000 |
| 9:127052867:C:A | N137K | 1.000 |
| 9:127052867:C:G | N137K | 1.000 |
| 9:127052896:C:A | A147E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000015196 (9:127189256 C>T), RS1000026958 (9:127051755 C>G), RS1000030645 (9:126941300 A>G), RS1000045052 (9:127052025 T>C), RS1000049814 (9:127090893 G>A), RS1000054131 (9:127097175 T>G), RS1000060252 (9:127059533 T>C,G), RS1000063748 (9:126913304 G>A), RS1000078808 (9:126918827 C>A,T), RS1000081401 (9:127173579 C>T), RS1000087395 (9:127003306 T>G), RS1000105970 (9:127087935 A>C), RS1000123215 (9:127103644 G>C), RS1000123747 (9:127132268 T>C), RS1000124582 (9:127064438 T>C)
Disease associations
OMIM: gene MIM:614444 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003264_163 | Post bronchodilator FEV1/FVC ratio | 3.000000e-06 |
| GCST005580_229 | Intraocular pressure | 1.000000e-17 |
| GCST005580_246 | Intraocular pressure | 9.000000e-11 |
| GCST006412_109 | Intraocular pressure | 2.000000e-18 |
| GCST007201_109 | Schizophrenia | 1.000000e-07 |
| GCST007294_106 | Body fat distribution (trunk fat ratio) | 2.000000e-08 |
| GCST007294_69 | Body fat distribution (trunk fat ratio) | 1.000000e-09 |
| GCST007295_19 | Body fat distribution (leg fat ratio) | 1.000000e-09 |
| GCST007295_78 | Body fat distribution (leg fat ratio) | 3.000000e-13 |
| GCST009066_19 | Mosaic loss of chromosome Y (Y chromosome dosage) | 1.000000e-12 |
| GCST009725_26 | Intraocular pressure | 2.000000e-14 |
| GCST010703_39 | Brain morphology (MOSTest) | 9.000000e-09 |
| GCST012368_6 | Early-onset schizophrenia | 4.000000e-11 |
| GCST90000025_381 | Appendicular lean mass | 1.000000e-17 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0004341 | body fat distribution |
| EFO:0007783 | mosaic loss of chromosome Y measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 5 |
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 4 |
| trichostatin A | increases expression, affects cotreatment, decreases expression | 3 |
| Aflatoxin B1 | affects expression, decreases expression, increases methylation | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Smoke | increases expression, decreases expression, increases abundance | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | affects cotreatment, decreases expression, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Arsenicals | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 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.