ARF5
gene geneOn this page
Summary
ARF5 (ARF GTPase 5, HGNC:658) is a protein-coding gene on chromosome 7q32.1, encoding ADP-ribosylation factor 5 (P84085). GTP-binding protein involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus.
This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization.
Source: NCBI Gene 381 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 25 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001662
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:658 |
| Approved symbol | ARF5 |
| Name | ARF GTPase 5 |
| Location | 7q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000004059 |
| Ensembl biotype | protein_coding |
| OMIM | 103188 |
| Entrez | 381 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000000233, ENST00000415666, ENST00000459680, ENST00000463733, ENST00000467281, ENST00000489673, ENST00000864451, ENST00000864452, ENST00000934467, ENST00000934468
RefSeq mRNA: 1 — MANE Select: NM_001662
NM_001662
CCDS: CCDS34745
Canonical transcript exons
ENST00000000233 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000882271 | 127591213 | 127591700 |
| ENSE00001872691 | 127588411 | 127588565 |
| ENSE00003494180 | 127589083 | 127589163 |
| ENSE00003504066 | 127589485 | 127589594 |
| ENSE00003676786 | 127590963 | 127591088 |
| ENSE00003678978 | 127590066 | 127590137 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.01.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 98.1124 / max 541.3539, expressed in 1828 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 80890 | 98.1124 | 1828 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.01 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.92 | gold quality |
| frontal cortex | UBERON:0001870 | 98.88 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.87 | gold quality |
| skin of leg | UBERON:0001511 | 98.84 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.82 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.81 | gold quality |
| zone of skin | UBERON:0000014 | 98.79 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.77 | gold quality |
| body of pancreas | UBERON:0001150 | 98.75 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.73 | gold quality |
| cerebral cortex | UBERON:0000956 | 98.69 | gold quality |
| granulocyte | CL:0000094 | 98.68 | gold quality |
| primary visual cortex | UBERON:0002436 | 98.68 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.68 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.63 | gold quality |
| cerebellum | UBERON:0002037 | 98.62 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.62 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.56 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.52 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.51 | gold quality |
| cortical plate | UBERON:0005343 | 98.49 | gold quality |
| putamen | UBERON:0001874 | 98.48 | gold quality |
| monocyte | CL:0000576 | 98.46 | gold quality |
| leukocyte | CL:0000738 | 98.46 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.44 | gold quality |
| right uterine tube | UBERON:0001302 | 98.39 | gold quality |
| pancreas | UBERON:0001264 | 98.35 | gold quality |
| esophagus | UBERON:0001043 | 98.27 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8271 | no | 519.03 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting ARF5, 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-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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-4687-5P | 99.14 | 66.26 | 488 |
| HSA-MIR-6889-3P | 98.84 | 67.35 | 1198 |
| HSA-MIR-6529-3P | 98.68 | 66.76 | 1020 |
Literature-anchored findings (GeneRIF, showing 8)
- a crucial role for class II Arf proteins (Arf4 and Arf5) in the dengue flavivirus life cycle (PMID:22105072)
- The lipid droplets deposition and the cellular triacylglycerol content are significantly increased by siRNA-mediated depletion of Arf5. (PMID:22185782)
- A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
- a novel molecular mechanism of circular dorsal ruffles ring size control through the ARAP1-Arf1/5 pathway. (PMID:22573888)
- BRAG2 acts at clathrin-coated pits to promote integrin internalization by activating Arf5 and suggest a previously unrecognized role for Arf5 in clathrin-mediated endocytosis of specific cargoes. (PMID:22815487)
- GORAB missense mutation disrupt ARF5 binding in Golgi apparatus in patients, with genetic skin diseases. (PMID:26000619)
- ARF5 and Rab1b exhibit RNA-binding capacity, suggesting a role for domain 3 of the IRES in RNA localization into specific cellular compartments. (PMID:30655362)
- An Arf/Rab cascade controls the growth and invasiveness of glioblastoma. (PMID:33443570)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arf5 | ENSDARG00000070472 |
| danio_rerio | ARF5 | ENSDARG00000113899 |
| mus_musculus | Arf5 | ENSMUSG00000020440 |
| drosophila_melanogaster | Arf4 | FBGN0013749 |
| caenorhabditis_elegans | WBGENE00000183 |
Paralogs (30): SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), 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 5 — P84085 (reviewed: P84085)
All UniProt accessions (3): P84085, A4D0Z3, C9J1Z8
UniProt curated annotations — full annotation on UniProt →
Function. GTP-binding protein involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. (Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase.
Subunit / interactions. Interacts (when activated) with GGA1, GGA2 and GGA3; the interaction is required for proper subcellular location of GGA1, GGA2 and GGA3. Binds ASAP2. Interacts with NCS1/FREQ at the Golgi complex. Interacts with RAB11FIP3 and RAB11FIP4.
Subcellular location. Golgi apparatus. Cytoplasm. Perinuclear region. Membrane. trans-Golgi network membrane.
Similarity. Belongs to the small GTPase superfamily. Arf family.
RefSeq proteins (1): NP_001653* (*=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 |
| IPR045872 | Arf1-5-like | Family |
Pfam: PF00025
UniProt features (25 total): helix 9, strand 7, binding site 3, turn 3, initiator methionine 1, chain 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2B6H | X-RAY DIFFRACTION | 1.76 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P84085-F1 | 86.31 | 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.
Ligand- & substrate-binding residues (3): 24–31; 67–71; 126–129
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-199977 | ER to Golgi Anterograde Transport |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-948021 | Transport to the Golgi and subsequent modification |
MSigDB gene sets: 154 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_UP, MORF_RAB5A, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GGGTGGRR_PAX4_03, MORF_PSMC2, MORF_ATOX1, chr7q32, MODULE_86, PID_PI3KCI_PATHWAY, MORF_GPX4, MODULE_226, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, MODULE_98
GO Biological Process (4): intracellular protein transport (GO:0006886), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), vesicle-mediated transport (GO:0016192), protein transport (GO:0015031)
GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (6): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| Membrane Trafficking | 2 |
| ER to Golgi Anterograde Transport | 1 |
| Golgi-to-ER retrograde transport | 1 |
| Transport to the Golgi and subsequent modification | 1 |
| Vesicle-mediated transport | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Asparagine N-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular protein localization | 2 |
| transport | 2 |
| cytoplasm | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| Golgi vesicle transport | 1 |
| cellular process | 1 |
| establishment of protein localization | 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 anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
136 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CBX7 | BMI1 | psi-mi:“MI:0914”(association) | 0.940 |
| RAB11A | RAB11FIP3 | psi-mi:“MI:0914”(association) | 0.860 |
| MED20 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| ARL4C | RGS12 | psi-mi:“MI:0914”(association) | 0.640 |
| RAB8A | WDR91 | psi-mi:“MI:0914”(association) | 0.600 |
| ARF5 | ACY3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARF5 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERBB2 | ARF5 | psi-mi:“MI:0915”(physical association) | 0.550 |
| SNRNP27 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| A4GNT | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC15A1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| IL20RA | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| NT5E | SCAMP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CDH13 | INSIG1 | psi-mi:“MI:0914”(association) | 0.530 |
| ALPI | ALPP | psi-mi:“MI:0914”(association) | 0.530 |
| RHOBTB3 | ARF5 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (287): ARF5 (Reconstituted Complex), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS), ARF5 (Affinity Capture-MS)
ESM2 similar proteins: A8ISN6, B5FYQ0, O00909, O45379, O48649, O48920, P0CM16, P0CM17, P0DH91, P18085, P25160, P36397, P36405, P37996, P38116, P40616, P40940, P49076, P49702, P51644, P51821, P56559, P61208, P61211, P61212, P61750, P61751, P84081, P84082, P84083, P84084, P84085, Q06396, Q19705, Q1MTE5, Q20758, Q2TBW6, Q2YDM1, Q3SZF2, Q52NJ4
Diamond homologs: A1CRG9, A1D4D1, A3LTA2, A5DR82, A5E5G3, A8ISN6, O04266, O04267, O04834, O45379, O48649, O48920, P0C583, P0C950, P0C951, P0CM16, P0CM17, P0CR30, P0CR31, P0CT16, P0CT17, P0DH91, P11076, P18085, P19146, P20606, P22274, P34727, P36397, P36536, P36579, P38116, P40940, P40945, P40994, P49702, P51643, P51821, P51823, P51824
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ASAP2 | “up-regulates activity” | ARF5 | “gtpase-activating protein” |
| ARF5 | up-regulates | Vesicle_transport |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 157 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 |
|---|---|---|---|
| COPI-mediated anterograde transport | 10 | 9.6× | 5e-05 |
| COPI-dependent Golgi-to-ER retrograde traffic | 9 | 8.8× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intra-Golgi vesicle-mediated transport | 5 | 18.3× | 4e-03 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 6 | 14.0× | 4e-03 |
| intracellular protein transport | 11 | 5.0× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 14 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 148342 | GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1 | Likely pathogenic |
SpliceAI
510 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:127589081:A:AG | acceptor_gain | 1.0000 |
| 7:127589081:AGTT:A | acceptor_gain | 1.0000 |
| 7:127589082:G:GG | acceptor_gain | 1.0000 |
| 7:127589082:GTT:G | acceptor_gain | 1.0000 |
| 7:127589082:GTTG:G | acceptor_gain | 1.0000 |
| 7:127589163:GGTGA:G | donor_loss | 1.0000 |
| 7:127589164:G:GA | donor_loss | 1.0000 |
| 7:127589165:T:A | donor_loss | 1.0000 |
| 7:127589473:A:AG | acceptor_gain | 1.0000 |
| 7:127589474:A:G | acceptor_gain | 1.0000 |
| 7:127589477:A:AG | acceptor_gain | 1.0000 |
| 7:127589482:CA:C | acceptor_loss | 1.0000 |
| 7:127589483:A:AG | acceptor_gain | 1.0000 |
| 7:127589484:G:GT | acceptor_gain | 1.0000 |
| 7:127589484:GGC:G | acceptor_gain | 1.0000 |
| 7:127590059:T:A | acceptor_gain | 1.0000 |
| 7:127590061:CCCA:C | acceptor_loss | 1.0000 |
| 7:127590063:CA:C | acceptor_loss | 1.0000 |
| 7:127590064:A:AG | acceptor_gain | 1.0000 |
| 7:127590064:AG:A | acceptor_gain | 1.0000 |
| 7:127590064:AGG:A | acceptor_gain | 1.0000 |
| 7:127590065:G:GG | acceptor_gain | 1.0000 |
| 7:127590065:GG:G | acceptor_gain | 1.0000 |
| 7:127590065:GGG:G | acceptor_gain | 1.0000 |
| 7:127590065:GGGC:G | acceptor_gain | 1.0000 |
| 7:127590065:GGGCC:G | acceptor_gain | 1.0000 |
| 7:127590133:AGATG:A | donor_gain | 1.0000 |
| 7:127590134:GATG:G | donor_gain | 1.0000 |
| 7:127590134:GATGG:G | donor_gain | 1.0000 |
| 7:127590135:ATG:A | donor_gain | 1.0000 |
AlphaMissense
1172 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:127589085:G:C | G24R | 1.000 |
| 7:127589086:G:A | G24D | 1.000 |
| 7:127589100:G:C | G29R | 1.000 |
| 7:127589100:G:T | G29C | 1.000 |
| 7:127589101:G:A | G29D | 1.000 |
| 7:127589101:G:T | G29V | 1.000 |
| 7:127589103:A:C | K30Q | 1.000 |
| 7:127589104:A:T | K30M | 1.000 |
| 7:127589105:G:C | K30N | 1.000 |
| 7:127589105:G:T | K30N | 1.000 |
| 7:127589107:C:T | T31I | 1.000 |
| 7:127589125:T:C | L37P | 1.000 |
| 7:127589158:C:T | T48I | 1.000 |
| 7:127589163:G:C | G50R | 1.000 |
| 7:127589485:G:A | G50D | 1.000 |
| 7:127589487:T:A | F51I | 1.000 |
| 7:127589487:T:C | F51L | 1.000 |
| 7:127589488:T:C | F51S | 1.000 |
| 7:127589489:C:A | F51L | 1.000 |
| 7:127589489:C:G | F51L | 1.000 |
| 7:127589492:T:A | N52K | 1.000 |
| 7:127589492:T:G | N52K | 1.000 |
| 7:127589530:T:A | V65D | 1.000 |
| 7:127589532:T:A | W66R | 1.000 |
| 7:127589532:T:C | W66R | 1.000 |
| 7:127589533:G:C | W66S | 1.000 |
| 7:127589534:G:C | W66C | 1.000 |
| 7:127589534:G:T | W66C | 1.000 |
| 7:127589535:G:C | D67H | 1.000 |
| 7:127589535:G:T | D67Y | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000175369 (7:127590330 C>G), RS1000696746 (7:127590392 G>T), RS1000997314 (7:127592035 T>C), RS1001174520 (7:127591967 C>T), RS1001291992 (7:127591448 C>T), RS1001426199 (7:127587445 A>C), RS1002516682 (7:127587065 G>A), RS1003119206 (7:127588301 C>T), RS1003130437 (7:127588423 C>A,T), RS1003540058 (7:127588430 TCCC>T,TCC,TCCCC), RS1004076200 (7:127589344 T>C), RS1004133152 (7:127589648 G>A), RS1005083470 (7:127590737 T>G), RS1005113416 (7:127588169 G>A), RS1005245803 (7:127589866 T>C,G)
Disease associations
OMIM: gene MIM:103188 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001919_1 | Type 2 diabetes | 2.000000e-10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5986 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| ochratoxin A | affects binding | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Diethylstilbestrol | decreases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Doxorubicin | decreases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Selenium | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Valproic Acid | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| 1-Butanol | affects cotreatment, increases abundance, increases expression | 1 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4119054 | Binding | Binding affinity to ARF5 in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2RZ | Abcam HEK293T ARF5 KO | Transformed cell line | Female |
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.