ARL4A
gene geneOn this page
Summary
ARL4A (ARF like GTPase 4A, HGNC:695) is a protein-coding gene on chromosome 7p21.3, encoding ADP-ribosylation factor-like protein 4A (P40617). Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP).
ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 10124 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 30 total
- MANE Select transcript:
NM_005738
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:695 |
| Approved symbol | ARL4A |
| Name | ARF like GTPase 4A |
| Location | 7p21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000122644 |
| Ensembl biotype | protein_coding |
| OMIM | 604786 |
| Entrez | 10124 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 12 protein_coding
ENST00000356797, ENST00000396662, ENST00000396663, ENST00000396664, ENST00000404894, ENST00000439721, ENST00000651779, ENST00000891906, ENST00000931767, ENST00000931768, ENST00000931769, ENST00000931770
RefSeq mRNA: 4 — MANE Select: NM_005738
NM_001037164, NM_001195396, NM_005738, NM_212460
CCDS: CCDS5359
Canonical transcript exons
ENST00000651779 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003842422 | 12687633 | 12687728 |
| ENSE00003848207 | 12688166 | 12690958 |
Expression profiles
Bgee: expression breadth ubiquitous, 136 present calls, max score 98.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.1052 / max 1751.5879, expressed in 1764 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 77291 | 21.6933 | 1637 |
| 77288 | 7.9926 | 1619 |
| 77289 | 0.2262 | 76 |
| 77290 | 0.1385 | 47 |
| 77287 | 0.0545 | 12 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 98.72 | gold quality |
| right testis | UBERON:0004534 | 98.47 | gold quality |
| testis | UBERON:0000473 | 97.83 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.81 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.38 | gold quality |
| zone of skin | UBERON:0000014 | 95.19 | gold quality |
| skin of leg | UBERON:0001511 | 94.68 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.30 | gold quality |
| vagina | UBERON:0000996 | 94.14 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.02 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.29 | gold quality |
| rectum | UBERON:0001052 | 93.23 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 92.46 | gold quality |
| transverse colon | UBERON:0001157 | 92.34 | gold quality |
| small intestine | UBERON:0002108 | 92.21 | gold quality |
| bone marrow | UBERON:0002371 | 92.19 | gold quality |
| esophagus | UBERON:0001043 | 92.00 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.71 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 91.66 | gold quality |
| ectocervix | UBERON:0012249 | 91.65 | gold quality |
| duodenum | UBERON:0002114 | 91.40 | gold quality |
| intestine | UBERON:0000160 | 91.17 | gold quality |
| monocyte | CL:0000576 | 91.02 | gold quality |
| tonsil | UBERON:0002372 | 90.74 | gold quality |
| colon | UBERON:0001155 | 90.70 | gold quality |
| leukocyte | CL:0000738 | 90.46 | gold quality |
| omental fat pad | UBERON:0010414 | 90.32 | gold quality |
| adipose tissue | UBERON:0001013 | 90.17 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 90.06 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9841 | yes | 1334.51 |
| E-CURD-98 | yes | 1210.25 |
| E-MTAB-10855 | yes | 1106.02 |
| E-MTAB-10885 | yes | 900.11 |
| E-MTAB-8142 | yes | 96.68 |
| E-MTAB-10287 | yes | 67.14 |
| E-HCAD-1 | yes | 23.40 |
| E-MTAB-8410 | yes | 23.31 |
| E-GEOD-135922 | yes | 12.68 |
| E-CURD-46 | yes | 10.56 |
| E-CURD-114 | yes | 9.79 |
| E-MTAB-10042 | no | 470.28 |
| E-MTAB-6108 | no | 363.77 |
| E-HCAD-5 | no | 2.25 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1
miRNA regulators (miRDB)
109 targeting ARL4A, 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-3613-3P | 100.00 | 76.36 | 7965 |
| 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-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
Literature-anchored findings (GeneRIF, showing 6)
- Study shows that three related Arf-like GTPases Arl4a, Arl4c, and Arl4d, are able to recruit ARNO and other cytohesins to the plasma membrane by binding to their PH domains irrespective of whether they are in the diglycine or triglycine form. (PMID:17398095)
- The loss of PTEN was shown to lead to increased levels of ARF4L protein but no change in transcript levels. The ARF4L transcript preferentially localized to the polysomal compartment after PTEN loss in glioma. (PMID:18240926)
- membrane targeting of ELMO via Arl4A promotes cytoskeletal reorganization including membrane ruffling and stress fiber disassembly via an ELMO-DOCK1800-Rac signaling pathway. (PMID:21930703)
- Deletion of the ARL4A-interacting region of GCC185 results in inability to maintain Golgi structure and modulate endosome-to-Golgi transport. (PMID:22159419)
- Arl4A participates in Slit2/Robo1 signaling to modulate cell motility by regulating Cdc42 activity. (PMID:30427759)
- Phosphorylation of Arl4A/D promotes their binding by the HYPK chaperone for their stable recruitment to the plasma membrane. (PMID:35857868)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arl4aa | ENSDARG00000099918 |
| mus_musculus | Arl4a | ENSMUSG00000047446 |
| rattus_norvegicus | Arl4a | ENSRNOG00000069300 |
Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARF1 (ENSG00000143761), ARL8A (ENSG00000143862), ARL11 (ENSG00000152213), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL17A (ENSG00000185829), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)
Protein
Protein identifiers
ADP-ribosylation factor-like protein 4A — P40617 (reviewed: P40617)
All UniProt accessions (2): C9J7Q9, P40617
UniProt curated annotations — full annotation on UniProt →
Function. Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form.
Subunit / interactions. Interacts with CYTH2. Interacts with KPNA2; the interaction is direct. Does not interact with ARL4A.
Subcellular location. Cell membrane. Cytoplasm. Nucleus. Nucleolus.
Post-translational modifications. Myristoylated.
Similarity. Belongs to the small GTPase superfamily. Arf family.
RefSeq proteins (4): NP_001032241, NP_001182325, NP_005729, NP_997625 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005225 | Small_GTP-bd | Domain |
| IPR006689 | Small_GTPase_ARF/SAR | Family |
| IPR024156 | Small_GTPase_ARF | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00025
UniProt features (8 total): binding site 3, mutagenesis site 2, initiator methionine 1, chain 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P40617-F1 | 91.87 | 0.85 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 27–34; 75–79; 134–137
Post-translational modifications (1): 2
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 34 | inhibits relocalization of cyth2 to the plasma membrane. strongly localized in the nucleolus. |
| 79 | localized in the nucleus and nucleolus. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 363 (showing top):
RNGTGGGC_UNKNOWN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, BECKER_TAMOXIFEN_RESISTANCE_UP, TTTGTAG_MIR520D, GOZGIT_ESR1_TARGETS_DN, HALMOS_CEBPA_TARGETS_UP, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, BROWNE_HCMV_INFECTION_16HR_UP, KANNAN_TP53_TARGETS_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, TAL1ALPHAE47_01, CTATGCA_MIR153, EFC_Q6
GO Biological Process (3): intracellular protein transport (GO:0006886), vesicle-mediated transport (GO:0016192), brown fat cell differentiation (GO:0050873)
GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| nuclear lumen | 2 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| transport | 1 |
| cellular process | 1 |
| fat cell differentiation | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1769 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL4A | CYTH2 | Q99418 | 822 |
| ARL4A | GCC2 | Q8IWJ2 | 740 |
| ARL4A | CYTH3 | O43739 | 718 |
| ARL4A | SOS2 | Q07890 | 685 |
| ARL4A | ELMO1 | Q92556 | 677 |
| ARL4A | CDKN2A | P42771 | 657 |
| ARL4A | CYTH4 | Q9UIA0 | 643 |
| ARL4A | KPNA2 | P52292 | 623 |
| ARL4A | CYTH1 | Q15438 | 611 |
| ARL4A | LAMB1 | P07942 | 596 |
| ARL4A | FHOD1 | Q9Y613 | 507 |
| ARL4A | ARL16 | Q0P5N6 | 507 |
| ARL4A | GOLGA2 | Q08379 | 491 |
| ARL4A | JDP2 | Q8WYK2 | 477 |
| ARL4A | SUMF2 | Q8NBJ7 | 441 |
IntAct
30 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARL4A | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GOLGA2 | ARL4A | psi-mi:“MI:0915”(physical association) | 0.720 |
| ARL4A | CCDC102B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL4A | CCDC57 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL4A | SPATC1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC57 | ARL4A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATC1L | ARL4A | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT19 | ARL4A | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL4A | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL4A | POF1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| EVI5 | ARL4A | psi-mi:“MI:0915”(physical association) | 0.560 |
| FCN1 | ARL4A | psi-mi:“MI:0915”(physical association) | 0.370 |
| ARL4A | KRT19 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ARL4A | EVI5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ARL4A | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ARL4A | POF1B | psi-mi:“MI:0915”(physical association) | 0.000 |
| ARL4A | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ARL4A | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (22): ARL4A (Two-hybrid), CCDC102B (Two-hybrid), SPATC1L (Two-hybrid), CCDC57 (Two-hybrid), ARL4A (Synthetic Lethality), ARL4A (Two-hybrid), ARL4A (Affinity Capture-Western), ARL4A (Affinity Capture-Western), ARL4A (Affinity Capture-Western), ELMO1 (Co-localization), RAC1 (Co-localization), ARL4A (Affinity Capture-Western), ARL4A (Two-hybrid), GCC2 (Two-hybrid), GCC2 (Affinity Capture-Western)
ESM2 similar proteins: A8ISN6, B5FYQ0, F4IZ82, O00909, O14966, O45379, P11076, P25160, P36405, P37996, P38116, P40616, P40617, P40940, P49702, P51646, P56559, P61208, P61211, P61212, P61213, P61214, Q13795, Q19705, Q1MTE5, Q2KJ96, Q2TBW6, Q2YDM1, Q32LJ2, Q3T0M9, Q52NJ4, Q54R04, Q54UF1, Q5R579, Q5R7A4, Q5RCQ6, Q627K4, Q63055, Q80ZU0, Q8BXL7
Diamond homologs: O00909, O08697, O23778, O48649, O48920, P0CM16, P0CM17, P0DH91, P11076, P18085, P19146, P22274, P25160, P26990, P26991, P34212, P34727, P36397, P36404, P36406, P36407, P36579, P38116, P40616, P40617, P40940, P40945, P40946, P40994, P49076, P49702, P51643, P51644, P51645, P51646, P51821, P51822, P51823, P51824, P61204
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
263 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:12687041:CAG:C | donor_loss | 1.0000 |
| 7:12687042:AG:A | donor_loss | 1.0000 |
| 7:12687044:GTG:G | donor_loss | 1.0000 |
| 7:12687045:T:A | donor_loss | 1.0000 |
| 7:12688165:GCA:G | acceptor_gain | 1.0000 |
| 7:12687027:G:T | donor_gain | 0.9900 |
| 7:12688163:CAGCA:C | acceptor_gain | 0.9900 |
| 7:12688164:AGCAG:A | acceptor_gain | 0.9900 |
| 7:12688165:GCAGT:G | acceptor_gain | 0.9900 |
| 7:12687031:G:GT | donor_gain | 0.9800 |
| 7:12687039:GTCAG:G | donor_gain | 0.9800 |
| 7:12688160:TCCCA:T | acceptor_loss | 0.9800 |
| 7:12688161:CCCA:C | acceptor_loss | 0.9800 |
| 7:12688162:CCAGC:C | acceptor_loss | 0.9800 |
| 7:12688163:CA:C | acceptor_loss | 0.9800 |
| 7:12688164:A:AG | acceptor_gain | 0.9800 |
| 7:12688165:G:GG | acceptor_gain | 0.9800 |
| 7:12688167:A:AG | acceptor_gain | 0.9800 |
| 7:12688168:G:GG | acceptor_gain | 0.9800 |
| 7:12688168:GTCTT:G | acceptor_gain | 0.9800 |
| 7:12687027:G:GT | donor_gain | 0.9700 |
| 7:12688165:GC:G | acceptor_gain | 0.9700 |
| 7:12687506:G:GT | donor_gain | 0.9600 |
| 7:12688156:C:A | acceptor_loss | 0.9600 |
| 7:12688168:GT:G | acceptor_gain | 0.9600 |
| 7:12688168:GTC:G | acceptor_gain | 0.9600 |
| 7:12687030:GGACG:G | donor_gain | 0.9400 |
| 7:12687437:T:TA | donor_gain | 0.9400 |
| 7:12687438:G:GA | donor_gain | 0.9400 |
| 7:12688166:CAGTC:C | acceptor_loss | 0.9400 |
AlphaMissense
1297 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:12688355:C:T | T34I | 1.000 |
| 7:12688510:T:A | W86R | 1.000 |
| 7:12688510:T:C | W86R | 1.000 |
| 7:12688643:T:C | L130P | 1.000 |
| 7:12688658:A:T | K135I | 1.000 |
| 7:12688659:A:C | K135N | 1.000 |
| 7:12688659:A:T | K135N | 1.000 |
| 7:12688333:G:C | G27R | 0.999 |
| 7:12688348:G:A | G32R | 0.999 |
| 7:12688348:G:C | G32R | 0.999 |
| 7:12688349:G:A | G32E | 0.999 |
| 7:12688349:G:T | G32V | 0.999 |
| 7:12688351:A:C | K33Q | 0.999 |
| 7:12688353:G:C | K33N | 0.999 |
| 7:12688353:G:T | K33N | 0.999 |
| 7:12688414:T:C | F54L | 0.999 |
| 7:12688416:T:A | F54L | 0.999 |
| 7:12688416:T:G | F54L | 0.999 |
| 7:12688477:G:C | D75H | 0.999 |
| 7:12688478:A:C | D75A | 0.999 |
| 7:12688478:A:G | D75G | 0.999 |
| 7:12688502:G:C | R83T | 0.999 |
| 7:12688503:G:C | R83S | 0.999 |
| 7:12688503:G:T | R83S | 0.999 |
| 7:12688512:G:C | W86C | 0.999 |
| 7:12688512:G:T | W86C | 0.999 |
| 7:12688537:G:C | G95R | 0.999 |
| 7:12688538:G:A | G95D | 0.999 |
| 7:12688550:T:A | V99D | 0.999 |
| 7:12688555:G:C | D101H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000324874 (7:12690015 A>C), RS1001298906 (7:12686843 G>A), RS1001548547 (7:12685775 C>G), RS1002062919 (7:12690732 T>G), RS1002498737 (7:12690444 G>A), RS1002553098 (7:12686823 C>G,T), RS1002606957 (7:12686680 GC>G), RS1003561713 (7:12687650 T>C), RS1003613876 (7:12687466 C>T), RS1004804317 (7:12686993 C>T), RS1006298456 (7:12690911 A>G), RS1006390776 (7:12685158 T>C), RS1006461517 (7:12689320 C>G), RS1007384901 (7:12686579 T>A), RS1007694256 (7:12684925 T>C)
Disease associations
OMIM: gene MIM:604786 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002875_54 | Diisocyanate-induced asthma | 1.000000e-06 |
| GCST007847_97 | Type 2 diabetes | 3.000000e-09 |
| GCST008053_80 | Height | 4.000000e-09 |
| GCST008529_41 | Tea consumption | 2.000000e-07 |
| GCST010276_9 | Renal underexcretion gout | 3.000000e-07 |
| GCST011742_29 | Triglyceride levels in HIV infection | 9.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
| EFO:0010091 | tea consumption measurement |
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression, increases abundance | 4 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| methylselenic acid | increases expression | 1 |
| methylparaben | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | affects expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Air Pollutants, Occupational | increases expression | 1 |
| Ethanol | decreases expression, increases abundance, affects cotreatment | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Vehicle Emissions | decreases methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Calcitriol | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 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.