ARFIP2
gene geneOn this page
Also known as POR1
Summary
ARFIP2 (ARF interacting protein 2, HGNC:17160) is a protein-coding gene on chromosome 11p15.4, encoding Arfaptin-2 (P53365). Plays a role in constitutive metalloproteinase (MMP) secretion from the trans Golgi network.
Enables several functions, including GTP-dependent protein binding activity; membrane curvature sensor activity; and phosphatidylinositol-4-phosphate binding activity. Involved in actin cytoskeleton organization; mitophagy; and protein localization to phagophore assembly site. Located in several cellular components, including nucleolus; ruffle; and trans-Golgi network membrane.
Source: NCBI Gene 23647 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 46 total
- Druggable target: yes
- MANE Select transcript:
NM_001376558
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17160 |
| Approved symbol | ARFIP2 |
| Name | ARF interacting protein 2 |
| Location | 11p15.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | POR1 |
| Ensembl gene | ENSG00000132254 |
| Ensembl biotype | protein_coding |
| OMIM | 601638 |
| Entrez | 23647 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 22 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000254584, ENST00000396777, ENST00000423813, ENST00000445086, ENST00000525235, ENST00000525329, ENST00000529847, ENST00000530410, ENST00000531037, ENST00000614314, ENST00000860044, ENST00000860045, ENST00000860046, ENST00000860047, ENST00000860048, ENST00000860049, ENST00000860050, ENST00000860051, ENST00000860052, ENST00000860053, ENST00000931131, ENST00000931132, ENST00000931133, ENST00000931134, ENST00000931135, ENST00000931136, ENST00000931137
RefSeq mRNA: 17 — MANE Select: NM_001376558
NM_001242854, NM_001242855, NM_001242856, NM_001370406, NM_001370408, NM_001370409, NM_001370411, NM_001370412, NM_001370413, NM_001376558, NM_001376559, NM_001376560, NM_001376561, NM_001376562, NM_001376563, NM_001376564, NM_012402
CCDS: CCDS55739, CCDS55740, CCDS73250, CCDS7765
Canonical transcript exons
ENST00000396777 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000903318 | 6478738 | 6478959 |
| ENSE00000903319 | 6479140 | 6479258 |
| ENSE00001864228 | 6476519 | 6477268 |
| ENSE00001890156 | 6481231 | 6481331 |
| ENSE00003556446 | 6477718 | 6477892 |
| ENSE00003567193 | 6479972 | 6480068 |
| ENSE00003606832 | 6480323 | 6480463 |
| ENSE00003674815 | 6478041 | 6478198 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 97.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.0887 / max 188.6634, expressed in 1819 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 118431 | 34.1528 | 1819 |
| 118432 | 0.9359 | 622 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.50 | gold quality |
| type B pancreatic cell | CL:0000169 | 97.35 | gold quality |
| body of pancreas | UBERON:0001150 | 97.29 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.69 | gold quality |
| pituitary gland | UBERON:0000007 | 96.49 | gold quality |
| body of stomach | UBERON:0001161 | 96.47 | gold quality |
| right uterine tube | UBERON:0001302 | 96.40 | gold quality |
| trachea | UBERON:0003126 | 96.37 | gold quality |
| rectum | UBERON:0001052 | 96.33 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.26 | silver quality |
| minor salivary gland | UBERON:0001830 | 96.25 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.16 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 96.06 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.97 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.85 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 95.84 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.62 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.59 | gold quality |
| mouth mucosa | UBERON:0003729 | 95.51 | gold quality |
| pancreas | UBERON:0001264 | 95.41 | gold quality |
| transverse colon | UBERON:0001157 | 95.40 | gold quality |
| stomach | UBERON:0000945 | 95.36 | gold quality |
| thyroid gland | UBERON:0002046 | 95.21 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.12 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.00 | gold quality |
| skin of leg | UBERON:0001511 | 94.93 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.86 | gold quality |
| endocervix | UBERON:0000458 | 94.68 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.60 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.55 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.87 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
91 targeting ARFIP2, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
Literature-anchored findings (GeneRIF, showing 8)
- arfaptin 2 is involved in regulating huntingtin protein aggregation (PMID:11854752)
- arfaptin 2 phosphorylation at Ser260 by Akt inhibits PolyQ-huntingtin-induced toxicity by rescuing proteasome impairment (PMID:15809304)
- The Arl1.Arfaptin-2 BAR structure suggests that one of the two Arl1 molecules competes with Rac1, which binds to the concave face of the Arfaptin-2 BAR homodimer and may hinder its membrane association. (PMID:22679020)
- both Arf1 activation and high membrane curvature are required for efficient recruitment of Arfaptin2 to membranes (PMID:23638170)
- The binding of arfaptin1, but not arfaptin2, to PI(4)P is regulated by protein kinase D (PKD) mediated phosphorylation at Ser100 within the AH. (PMID:23695357)
- The data indicate that arfaptin 2 is the first molecule to regulate NF-kappaB signaling by interacting with the functional IkappaB kinase complex but not by direct inhibiting IKKbeta phosphorylation. (PMID:26296658)
- Circular RNA circ-ARFIP2 regulates proliferation, migration and invasion in human vascular smooth muscle cells via miR-338-3p-dependent modulation of KDR. (PMID:33837886)
- Deciphering the immunological and prognostic features of hepatocellular carcinoma through ADP-ribosylation-related genes analysis and identify potential therapeutic target ARFIP2. (PMID:38302034)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arfip2b | ENSDARG00000056664 |
| danio_rerio | arfip2a | ENSDARG00000059244 |
| mus_musculus | Arfip2 | ENSMUSG00000030881 |
| rattus_norvegicus | Arfip2 | ENSRNOG00000018440 |
| drosophila_melanogaster | Arfip | FBGN0037884 |
| caenorhabditis_elegans | WBGENE00010040 |
Paralogs (2): PICK1 (ENSG00000100151), ARFIP1 (ENSG00000164144)
Protein
Protein identifiers
Arfaptin-2 — P53365 (reviewed: P53365)
Alternative names: ADP-ribosylation factor-interacting protein 2, Partner of RAC1
All UniProt accessions (4): P53365, A0A087X1E4, E9PPY7, E9PRV8
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in constitutive metalloproteinase (MMP) secretion from the trans Golgi network. May have important functions during vesicle biogenesis at certain cargo subdomains, which could be predominantly utilized by secreted MMPs, such as MMP7 and MMP2. Also involved in autophagy by regulating the starvation-dependent trafficking of ATG9A vesicles which deliver the phosphatidylinositol 4-kinase beta (PI4KB) to the autophagosome initiation site. Involved in phagophore growth during mitophagy by regulating ATG9A trafficking to mitochondria. In addition, plays a role in NF-kappa-B inhibition by interacting with IKBKB and IKBKG.
Subunit / interactions. Forms homodimers or heterodimers with ARFIP1. Interacts with RAC1. Specifically binds to GTP-bound ARF1 and ARF6, but binds to RAC1.GTP and RAC1.GDP with similar affinities. Interacts with ARL1. Interacts (via N-terminus) with IKBKB and IKBKG; these interactions inhibit activation of NF-kappa-B.
Subcellular location. Golgi apparatus. trans-Golgi network membrane.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P53365-1 | 1 | yes |
| P53365-2 | 2 | |
| P53365-3 | 3 |
RefSeq proteins (17): NP_001229783, NP_001229784, NP_001229785, NP_001357335, NP_001357337, NP_001357338, NP_001357340, NP_001357341, NP_001357342, NP_001363487, NP_001363488, NP_001363489, NP_001363490, NP_001363491, NP_001363492, NP_001363493, NP_036534 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010504 | AH_dom | Domain |
| IPR027267 | AH/BAR_dom_sf | Homologous_superfamily |
| IPR030798 | Arfaptin_fam | Family |
Pfam: PF06456
UniProt features (16 total): helix 5, turn 2, modified residue 2, splice variant 2, chain 1, domain 1, region of interest 1, mutagenesis site 1, sequence conflict 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1I4D | X-RAY DIFFRACTION | 2.5 |
| 1I4T | X-RAY DIFFRACTION | 2.6 |
| 1I4L | X-RAY DIFFRACTION | 2.7 |
| 1I49 | X-RAY DIFFRACTION | 2.8 |
| 4DCN | X-RAY DIFFRACTION | 3.01 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P53365-F1 | 81.84 | 0.61 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 72, 76
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 99 | abolished ability to regulate atg9a trafficking. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-6811440 | Retrograde transport at the Trans-Golgi-Network |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
MSigDB gene sets: 199 (showing top):
GGGACCA_MIR133A_MIR133B, MODULE_52, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_ACTIN_NUCLEATION, AREB6_03, MAZ_Q6, BROWNE_HCMV_INFECTION_16HR_UP, GOCC_RUFFLE, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, GGGTGGRR_PAX4_03, GOBP_MACROAUTOPHAGY, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, CTAGGAA_MIR384
GO Biological Process (10): mitophagy (GO:0000423), intracellular protein transport (GO:0006886), small GTPase-mediated signal transduction (GO:0007264), lamellipodium assembly (GO:0030032), actin cytoskeleton organization (GO:0030036), ruffle organization (GO:0031529), regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315), protein localization to phagophore assembly site (GO:0034497), autophagy (GO:0006914), intracellular protein localization (GO:0008104)
GO Molecular Function (10): GTP binding (GO:0005525), phospholipid binding (GO:0005543), protein domain specific binding (GO:0019904), GTP-dependent protein binding (GO:0030742), small GTPase binding (GO:0031267), identical protein binding (GO:0042802), cadherin binding (GO:0045296), phosphatidylinositol-4-phosphate binding (GO:0070273), membrane curvature sensor activity (GO:0140090), protein binding (GO:0005515)
GO Cellular Component (9): ruffle (GO:0001726), nucleolus (GO:0005730), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), cell cortex (GO:0005938), trans-Golgi network membrane (GO:0032588), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 3 |
| cellular anatomical structure | 3 |
| cytoplasm | 3 |
| intracellular protein localization | 2 |
| lipid binding | 2 |
| cell periphery | 2 |
| autophagy of mitochondrion | 1 |
| macroautophagy | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| intracellular signaling cassette | 1 |
| lamellipodium organization | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| plasma membrane bounded cell projection organization | 1 |
| Arp2/3 complex-mediated actin nucleation | 1 |
| regulation of actin nucleation | 1 |
| autophagosome assembly | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| macromolecule localization | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| GTPase binding | 1 |
| cell adhesion molecule binding | 1 |
| anion binding | 1 |
| phosphatidylinositol phosphate binding | 1 |
| molecular sensor activity | 1 |
| binding | 1 |
| cell leading edge | 1 |
| plasma membrane bounded cell projection | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| trans-Golgi network | 1 |
Protein interactions and networks
STRING
1012 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARFIP2 | ARF6 | P26438 | 849 |
| ARFIP2 | ARF1 | P10947 | 807 |
| ARFIP2 | CDKN2A | P42771 | 759 |
| ARFIP2 | BIN1 | O00499 | 678 |
| ARFIP2 | ARF5 | P26437 | 661 |
| ARFIP2 | ARF3 | P16587 | 598 |
| ARFIP2 | KPNA2 | P52292 | 595 |
| ARFIP2 | SYNJ2 | O15056 | 511 |
| ARFIP2 | VDAC1 | P21796 | 505 |
| ARFIP2 | AMPH | P49418 | 501 |
| ARFIP2 | KIF23 | Q02241 | 498 |
| ARFIP2 | AKT1 | P31749 | 497 |
| ARFIP2 | BAIAP2 | Q9UQB8 | 482 |
| ARFIP2 | CYFIP2 | Q96F07 | 475 |
| ARFIP2 | WASF2 | Q9Y6W5 | 458 |
IntAct
256 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAC1 | ARFIP2 | psi-mi:“MI:0407”(direct interaction) | 0.910 |
| RAC1 | ARFIP2 | psi-mi:“MI:2364”(proximity) | 0.910 |
| RAC1 | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.910 |
| ARFIP2 | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.830 |
| ARFIP2 | ARFIP1 | psi-mi:“MI:0915”(physical association) | 0.750 |
| KRT15 | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAL2 | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ARFIP2 | KRT15 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ARFIP2 | SH3GLB1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ARFIP2 | MAL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ITGB3BP | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| AGTRAP | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ARFIP2 | ITGB3BP | psi-mi:“MI:0915”(physical association) | 0.670 |
| ARFIP2 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (157): ARFIP2 (Two-hybrid), ARFIP2 (Two-hybrid), ARFIP2 (Two-hybrid), ARFIP2 (Two-hybrid), AGTRAP (Two-hybrid), TRIM54 (Two-hybrid), CEP63 (Two-hybrid), USHBP1 (Two-hybrid), ING5 (Two-hybrid), MAL2 (Two-hybrid), HAUS1 (Two-hybrid), ARFIP2 (Affinity Capture-RNA), ARFIP1 (Affinity Capture-MS), ARFIP2 (Affinity Capture-MS), DTNBP1 (Two-hybrid)
ESM2 similar proteins: A1A4L0, A6H6A9, B4F779, G5E8V9, O35382, O60890, O95219, P0CAX5, P53365, P53367, Q08DP6, Q28E02, Q3ZCL5, Q4V7P7, Q566W7, Q5EAD0, Q5R4C2, Q5RCW6, Q5T0N5, Q5VWJ9, Q5ZJ17, Q60437, Q62824, Q6AY65, Q6GMN2, Q6PCS4, Q6Y5D8, Q6ZQ82, Q7YQL5, Q7YQL6, Q80TY0, Q8BHY8, Q8BKX1, Q8CE50, Q8K221, Q8K3G9, Q8K3H0, Q8N6S4, Q8NEU8, Q8R511
Diamond homologs: G5E8V9, P34445, P53365, P53367, Q3ZCL5, Q6AY65, Q8K221, Q9JHU5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AKT | unknown | ARFIP2 | phosphorylation |
| AKT1 | unknown | ARFIP2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 63 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of actin cytoskeleton organization | 5 | 14.1× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1680 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:6477712:TGGCA:T | donor_loss | 1.0000 |
| 11:6477713:GGCAC:G | donor_loss | 1.0000 |
| 11:6477714:GCACC:G | donor_loss | 1.0000 |
| 11:6477715:CACCT:C | donor_loss | 1.0000 |
| 11:6477716:A:AT | donor_loss | 1.0000 |
| 11:6477717:C:CG | donor_loss | 1.0000 |
| 11:6477728:T:TA | donor_gain | 1.0000 |
| 11:6477888:CCAGC:C | acceptor_gain | 1.0000 |
| 11:6477889:CAGC:C | acceptor_gain | 1.0000 |
| 11:6477889:CAGCC:C | acceptor_gain | 1.0000 |
| 11:6477890:AGCCT:A | acceptor_loss | 1.0000 |
| 11:6477891:GC:G | acceptor_gain | 1.0000 |
| 11:6477891:GCCT:G | acceptor_loss | 1.0000 |
| 11:6477892:CC:C | acceptor_gain | 1.0000 |
| 11:6477893:C:CC | acceptor_gain | 1.0000 |
| 11:6478035:CCACA:C | donor_loss | 1.0000 |
| 11:6478036:CACAC:C | donor_loss | 1.0000 |
| 11:6478038:CACCT:C | donor_loss | 1.0000 |
| 11:6478039:ACCTG:A | donor_loss | 1.0000 |
| 11:6478040:C:CG | donor_loss | 1.0000 |
| 11:6478054:A:AC | donor_gain | 1.0000 |
| 11:6478055:C:CC | donor_gain | 1.0000 |
| 11:6478055:CTGTT:C | donor_gain | 1.0000 |
| 11:6478056:TGTTT:T | donor_gain | 1.0000 |
| 11:6478080:T:TA | donor_gain | 1.0000 |
| 11:6478090:TGGTG:T | donor_gain | 1.0000 |
| 11:6478194:TCCTC:T | acceptor_gain | 1.0000 |
| 11:6478195:CCTCC:C | acceptor_gain | 1.0000 |
| 11:6478196:CTC:C | acceptor_gain | 1.0000 |
| 11:6478198:CCTG:C | acceptor_loss | 1.0000 |
AlphaMissense
2202 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:6477246:A:G | L298P | 1.000 |
| 11:6477731:A:G | L286P | 1.000 |
| 11:6477742:C:A | K282N | 1.000 |
| 11:6477742:C:G | K282N | 1.000 |
| 11:6477744:T:C | K282E | 1.000 |
| 11:6477872:C:G | R239P | 1.000 |
| 11:6477878:G:T | A237D | 1.000 |
| 11:6478041:C:A | R232M | 1.000 |
| 11:6478041:C:G | R232T | 1.000 |
| 11:6478077:T:C | D220G | 1.000 |
| 11:6478077:T:G | D220A | 1.000 |
| 11:6478078:C:G | D220H | 1.000 |
| 11:6479140:C:A | K105N | 1.000 |
| 11:6479140:C:G | K105N | 1.000 |
| 11:6479145:A:C | Y104D | 1.000 |
| 11:6479145:A:T | Y104N | 1.000 |
| 11:6479158:C:A | W99C | 1.000 |
| 11:6479158:C:G | W99C | 1.000 |
| 11:6479160:A:G | W99R | 1.000 |
| 11:6479160:A:T | W99R | 1.000 |
| 11:6479168:A:T | V96D | 1.000 |
| 11:6477217:A:C | Y308D | 0.999 |
| 11:6477228:G:T | A304D | 0.999 |
| 11:6477229:C:G | A304P | 0.999 |
| 11:6477721:G:C | N289K | 0.999 |
| 11:6477721:G:T | N289K | 0.999 |
| 11:6477722:T:A | N289I | 0.999 |
| 11:6477723:T:C | N289D | 0.999 |
| 11:6477734:A:G | F285S | 0.999 |
| 11:6477740:A:G | L283P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000365664 (11:6481926 C>G), RS1001483841 (11:6482248 C>G,T), RS1001714070 (11:6476408 G>A), RS1002050326 (11:6482457 A>G), RS1002596206 (11:6477647 G>A,C), RS1003293859 (11:6477380 T>C), RS1003347778 (11:6477696 G>A), RS1003530884 (11:6482985 T>A), RS1003717335 (11:6479545 G>A), RS1003881127 (11:6481637 G>A,T), RS1004898451 (11:6476697 G>A), RS1004952506 (11:6476473 C>T), RS1005048709 (11:6480479 C>A,G,T), RS1005287628 (11:6482773 A>G,T), RS1005403483 (11:6476946 C>T)
Disease associations
OMIM: gene MIM:601638 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010725_20 | Malaria | 4.000000e-69 |
| GCST010725_33 | Malaria | 2.000000e-67 |
| GCST010725_51 | Malaria | 1.000000e-55 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066871 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | increases expression | 2 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| kojic acid | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
| Arbutin | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Diethylstilbestrol | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Ozone | affects cotreatment, increases expression, increases abundance | 1 |
| Rotenone | increases expression | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652870 | Binding | Binding affinity to human ARFIP2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1JW | Abcam HeLa ARFIP2 KO | Cancer 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.