AFTPH
gene geneOn this page
Also known as MGC33965FLJ20080FLJ23793Nbla10388
Summary
AFTPH (aftiphilin, HGNC:25951) is a protein-coding gene on chromosome 2p14, encoding Aftiphilin (Q6ULP2). Component of clathrin-coated vesicles.
Enables clathrin binding activity. Predicted to be involved in intracellular transport. Located in Golgi apparatus; cytosol; and nucleoplasm. Part of AP-1 adaptor complex.
Source: NCBI Gene 54812 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 155 total
- MANE Select transcript:
NM_203437
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25951 |
| Approved symbol | AFTPH |
| Name | aftiphilin |
| Location | 2p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC33965, FLJ20080, FLJ23793, Nbla10388 |
| Ensembl gene | ENSG00000119844 |
| Ensembl biotype | protein_coding |
| OMIM | 619628 |
| Entrez | 54812 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 19 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000238856, ENST00000409183, ENST00000409933, ENST00000487769, ENST00000498706, ENST00000695864, ENST00000695865, ENST00000695866, ENST00000695867, ENST00000695868, ENST00000695869, ENST00000695960, ENST00000880238, ENST00000880239, ENST00000880240, ENST00000880241, ENST00000880242, ENST00000880243, ENST00000880244, ENST00000920107, ENST00000920108, ENST00000942373, ENST00000942374
RefSeq mRNA: 10 — MANE Select: NM_203437
NM_001002243, NM_001375969, NM_001375970, NM_001375971, NM_001375972, NM_001375973, NM_001394995, NM_001394996, NM_017657, NM_203437
CCDS: CCDS1878, CCDS46303, CCDS92767, CCDS92768, CCDS92769, CCDS92770, CCDS92771
Canonical transcript exons
ENST00000409933 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000810183 | 64579486 | 64579546 |
| ENSE00001587108 | 64591888 | 64593005 |
| ENSE00003488799 | 64572946 | 64573068 |
| ENSE00003496930 | 64585422 | 64585545 |
| ENSE00003506130 | 64569092 | 64569218 |
| ENSE00003544540 | 64567562 | 64567713 |
| ENSE00003614120 | 64551443 | 64553409 |
| ENSE00003718530 | 64569623 | 64569679 |
| ENSE00003965278 | 64581190 | 64581273 |
| ENSE00003965634 | 64524328 | 64524612 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 97.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.3247 / max 346.4255, expressed in 1642 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 20589 | 3.8963 | 1365 |
| 20588 | 2.0494 | 941 |
| 20590 | 1.4515 | 511 |
| 20592 | 0.5042 | 254 |
| 20591 | 0.4233 | 151 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal medulla | UBERON:0000362 | 97.48 | gold quality |
| male germ cell | CL:0000015 | 97.36 | gold quality |
| sperm | CL:0000019 | 97.36 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.29 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.74 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.67 | gold quality |
| cerebellar vermis | UBERON:0004720 | 96.65 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.59 | gold quality |
| type B pancreatic cell | CL:0000169 | 96.49 | gold quality |
| pylorus | UBERON:0001166 | 96.42 | gold quality |
| parotid gland | UBERON:0001831 | 96.36 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.31 | silver quality |
| oviduct epithelium | UBERON:0004804 | 96.17 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 96.11 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 95.85 | gold quality |
| nipple | UBERON:0002030 | 95.79 | gold quality |
| superior surface of tongue | UBERON:0007371 | 95.26 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.13 | gold quality |
| upper arm skin | UBERON:0004263 | 94.98 | gold quality |
| diaphragm | UBERON:0001103 | 94.92 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 94.82 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.73 | gold quality |
| trachea | UBERON:0003126 | 94.71 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.61 | gold quality |
| bronchus | UBERON:0002185 | 94.59 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 94.57 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 94.57 | gold quality |
| leukocyte | CL:0000738 | 94.54 | gold quality |
| mononuclear cell | CL:0000842 | 94.54 | gold quality |
| monocyte | CL:0000576 | 94.52 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
124 targeting AFTPH, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
Literature-anchored findings (GeneRIF, showing 3)
- the aftiphilin/p200/gamma-synergin complex facilitates AP-1 function (PMID:15758025)
- Data show that by recruiting aftiphilin/gamma-synergin in addition to clathrin, AP-1 coordinates formation of Weibel-Palade bodies with their acquisition of a regulated secretory phenotype. (PMID:18815278)
- Expression profiles and prognostic significance of AFTPH in different tumors. (PMID:33090728)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | aftpha | ENSDARG00000069249 |
| danio_rerio | aftphb | ENSDARG00000071347 |
| mus_musculus | Aftph | ENSMUSG00000049659 |
| rattus_norvegicus | Aftph | ENSRNOG00000005411 |
| caenorhabditis_elegans | WBGENE00021561 |
Paralogs (1): CLBA1 (ENSG00000140104)
Protein
Protein identifiers
Aftiphilin — Q6ULP2 (reviewed: Q6ULP2)
All UniProt accessions (8): A0A0U1RR74, A0A8Q3SI61, A0A8Q3SI81, A0A8Q3SIA4, A0A8Q3WKU6, A0A8Q3WM48, B8ZZI9, Q6ULP2
UniProt curated annotations — full annotation on UniProt →
Function. Component of clathrin-coated vesicles. Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes.
Subunit / interactions. Self-associates. Interacts with GGA1 (via GAE domain). Interacts with GGA3 (via GAE domain), AP1G1 (via GAE domain) and AP1G2 (via GAE domain). Component of the aftiphilin/p200/gamma-synergin complex, at least composed of AFTPH/aftiphilin, HEATR5B/p200a and SYNRG/gamma-synergin, which plays a role in the AP1G1/AP-1-mediated protein trafficking from early to recycling endosomes. Within the complex interacts with HEATR5B/p200a and SYNRG/gamma-synergin; the interactions are direct. Interacts with AP1G1/AP-1; the interaction is required to recruit AFTPH/aftiphilin to the perinuclear region of the cell. Interacts with CLTCL1/Clathrin.
Subcellular location. Cytoplasm. Perinuclear region. Cytoplasmic vesicle. Clathrin-coated vesicle.
Domain organisation. The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself.
Miscellaneous. May be due to intron retention.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ULP2-1 | 1 | yes |
| Q6ULP2-6 | 2 | |
| Q6ULP2-7 | 3 | |
| Q6ULP2-8 | 4 | |
| Q6ULP2-9 | 5 |
RefSeq proteins (10): NP_001002243, NP_001362898, NP_001362899, NP_001362900, NP_001362901, NP_001362902, NP_001381924, NP_001381925, NP_060127, NP_982261* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029205 | Clathrin-bd | Domain |
| IPR046359 | Aftin-like | Family |
Pfam: PF15045
UniProt features (34 total): region of interest 7, short sequence motif 5, sequence conflict 5, compositionally biased region 4, modified residue 4, splice variant 4, sequence variant 3, chain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ULP2-F1 | 46.36 | 0.00 |
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 (4): 151, 395, 518, 617
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 716–718 | abolishes the interaction with cltcl1/clathrin. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 172 (showing top):
chr2p14, GOCC_TRANS_GOLGI_NETWORK, GOCC_COATED_VESICLE, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOCC_GOLGI_ASSOCIATED_VESICLE, GOCC_VESICLE_COAT, MARIADASON_REGULATED_BY_HISTONE_ACETYLATION_UP, GOCC_CLATHRIN_COATED_VESICLE, GOCC_TRANS_GOLGI_NETWORK_TRANSPORT_VESICLE_MEMBRANE, GOCC_GOLGI_ASSOCIATED_VESICLE_MEMBRANE, GOCC_CLATHRIN_COAT, GOCC_CLATHRIN_VESICLE_COAT, MARSON_BOUND_BY_FOXP3_STIMULATED, GOCC_CLATHRIN_COATED_VESICLE_MEMBRANE, GOCC_MEMBRANE_PROTEIN_COMPLEX
GO Biological Process (2): protein transport (GO:0015031), intracellular transport (GO:0046907)
GO Molecular Function (2): clathrin binding (GO:0030276), protein binding (GO:0005515)
GO Cellular Component (9): nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), cytosol (GO:0005829), AP-1 adaptor complex (GO:0030121), trans-Golgi network membrane (GO:0032588), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), clathrin-coated vesicle (GO:0030136), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 4 |
| transport | 2 |
| intracellular anatomical structure | 2 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| cellular localization | 1 |
| establishment of localization in cell | 1 |
| protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| clathrin coat of trans-Golgi network vesicle | 1 |
| clathrin adaptor complex | 1 |
| trans-Golgi network | 1 |
| organelle membrane | 1 |
| coated vesicle | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
726 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AFTPH | SYNRG | Q9UMZ2 | 693 |
| AFTPH | AP1G2 | O75843 | 546 |
| AFTPH | CPNE1 | Q99829 | 527 |
| AFTPH | STXBP2 | Q15833 | 480 |
| AFTPH | INAFM1 | C9JVW0 | 464 |
| AFTPH | SERTAD2 | Q14140 | 406 |
| AFTPH | NUDCD1 | Q96RS6 | 392 |
| AFTPH | CAAP1 | Q9H8G2 | 391 |
| AFTPH | TBC1D22B | Q9NU19 | 391 |
| AFTPH | SCYL2 | Q6P3W7 | 371 |
| AFTPH | HEATR5B | Q9P2D3 | 370 |
| AFTPH | NTSR1 | P30989 | 366 |
| AFTPH | DCAF5 | Q96JK2 | 350 |
| AFTPH | SFT2D2 | O95562 | 349 |
| AFTPH | FAM216A | Q8WUB2 | 348 |
| AFTPH | TULP4 | Q9NRJ4 | 348 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| AP1S2 | AP1G1 | psi-mi:“MI:0914”(association) | 0.670 |
| AP1S2 | AP1G1 | psi-mi:“MI:0914”(association) | 0.660 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| CLTB | PIK3C2A | psi-mi:“MI:0914”(association) | 0.530 |
| AFTPH | SYNRG | psi-mi:“MI:0915”(physical association) | 0.500 |
| PEX14 | AFTPH | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AP2B1 | AFTPH | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP1LC3B | AFTPH | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| STAT5B | AFTPH | psi-mi:“MI:0915”(physical association) | 0.370 |
| AFTPH | rep | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE3A | AFTPH | psi-mi:“MI:0915”(physical association) | 0.370 |
| Csk | FRYL | psi-mi:“MI:0914”(association) | 0.350 |
| AP1S2 | SLC43A3 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.350 |
| AP1M2 | AP1G1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP18 | CLTB | psi-mi:“MI:0914”(association) | 0.350 |
| CLTA | CLTB | psi-mi:“MI:0914”(association) | 0.350 |
| TUBA1B | SLAIN2 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBB4B | TUBA1B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (79): AFTPH (Affinity Capture-MS), AFTPH (Affinity Capture-MS), AFTPH (Affinity Capture-MS), AFTPH (Affinity Capture-MS), AFTPH (Affinity Capture-MS), AFTPH (Affinity Capture-MS), AFTPH (Affinity Capture-MS), AFTPH (Affinity Capture-MS), AFTPH (Affinity Capture-MS), AFTPH (Synthetic Lethality), AFTPH (Proximity Label-MS), AFTPH (Affinity Capture-MS), AFTPH (Affinity Capture-MS), AP1G1 (Reconstituted Complex), CLTC (Reconstituted Complex)
ESM2 similar proteins: A0A1B0GTU1, A0P8Z5, A2A870, A4IGN8, B0KYV5, D3ZUI5, F1LR10, O00515, O46385, O75128, O75152, O75410, P0DQW0, P42167, P57016, Q4KLH6, Q5NBX1, Q5RDC1, Q5REG6, Q5SV85, Q5U5Q9, Q5ZIB2, Q5ZJJ1, Q61029, Q62733, Q641Q2, Q6INC4, Q6NZF1, Q6PGL7, Q6ULP2, Q6WKZ4, Q6Y685, Q6ZQ03, Q6ZQ06, Q6ZSR9, Q80WT5, Q80X08, Q86UE4, Q8BJ05, Q8K4L3
Diamond homologs: Q6ULP2, Q80WT5, Q8BHN9, Q17QP7, Q5RJN9, Q96F83
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 42 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 |
|---|---|---|---|
| Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters | 6 | 122.8× | 2e-10 |
| The role of Nef in HIV-1 replication and disease pathogenesis | 6 | 122.8× | 2e-10 |
| Lysosome Vesicle Biogenesis | 7 | 73.7× | 2e-10 |
| Host Interactions of HIV factors | 6 | 65.0× | 7e-09 |
| Golgi Associated Vesicle Biogenesis | 7 | 45.2× | 3e-09 |
| trans-Golgi Network Vesicle Budding | 5 | 40.9× | 2e-06 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 6 | 29.9× | 7e-07 |
| MHC class II antigen presentation | 9 | 25.9× | 1e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| synaptic vesicle endocytosis | 5 | 60.0× | 3e-06 |
| intracellular protein transport | 10 | 18.0× | 4e-08 |
| vesicle-mediated transport | 6 | 16.1× | 8e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
155 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 128 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1493 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:64551441:A:C | acceptor_loss | 1.0000 |
| 2:64551442:G:GC | acceptor_loss | 1.0000 |
| 2:64551442:GGT:G | acceptor_gain | 1.0000 |
| 2:64567554:T:TA | acceptor_gain | 1.0000 |
| 2:64567561:GACA:G | acceptor_gain | 1.0000 |
| 2:64567710:GTGG:G | donor_gain | 1.0000 |
| 2:64567711:TGG:T | donor_gain | 1.0000 |
| 2:64567712:GG:G | donor_gain | 1.0000 |
| 2:64567712:GGG:G | donor_gain | 1.0000 |
| 2:64567713:GG:G | donor_gain | 1.0000 |
| 2:64567713:GGT:G | donor_loss | 1.0000 |
| 2:64567714:G:GC | donor_loss | 1.0000 |
| 2:64567714:G:GG | donor_gain | 1.0000 |
| 2:64567715:T:G | donor_loss | 1.0000 |
| 2:64569219:G:GG | donor_gain | 1.0000 |
| 2:64569223:GTTT:G | donor_gain | 1.0000 |
| 2:64569610:A:AG | acceptor_gain | 1.0000 |
| 2:64569610:AAC:A | acceptor_gain | 1.0000 |
| 2:64569610:AACGT:A | acceptor_gain | 1.0000 |
| 2:64569611:A:G | acceptor_gain | 1.0000 |
| 2:64569612:C:CA | acceptor_gain | 1.0000 |
| 2:64569612:C:G | acceptor_gain | 1.0000 |
| 2:64572944:AG:A | acceptor_gain | 1.0000 |
| 2:64572945:GG:G | acceptor_gain | 1.0000 |
| 2:64572945:GGGT:G | acceptor_gain | 1.0000 |
| 2:64573064:TCCAG:T | donor_loss | 1.0000 |
| 2:64573065:CCAGG:C | donor_loss | 1.0000 |
| 2:64573066:CAGG:C | donor_loss | 1.0000 |
| 2:64573067:AGG:A | donor_loss | 1.0000 |
| 2:64573068:GG:G | donor_loss | 1.0000 |
AlphaMissense
6239 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:64579513:T:A | W808R | 1.000 |
| 2:64579513:T:C | W808R | 1.000 |
| 2:64579515:G:C | W808C | 1.000 |
| 2:64579515:G:T | W808C | 1.000 |
| 2:64569156:T:A | W718R | 0.999 |
| 2:64569156:T:C | W718R | 0.999 |
| 2:64572953:T:C | L760S | 0.999 |
| 2:64579507:T:C | F806L | 0.999 |
| 2:64579509:T:A | F806L | 0.999 |
| 2:64579509:T:G | F806L | 0.999 |
| 2:64579529:T:C | L813P | 0.999 |
| 2:64591977:T:C | L918S | 0.999 |
| 2:64591982:T:C | F920L | 0.999 |
| 2:64591983:T:C | F920S | 0.999 |
| 2:64591984:C:A | F920L | 0.999 |
| 2:64591984:C:G | F920L | 0.999 |
| 2:64569158:G:C | W718C | 0.998 |
| 2:64569158:G:T | W718C | 0.998 |
| 2:64569184:T:C | L727P | 0.998 |
| 2:64569187:T:C | L728S | 0.998 |
| 2:64569202:T:A | I733K | 0.998 |
| 2:64569211:G:C | R736P | 0.998 |
| 2:64569660:C:A | P751H | 0.998 |
| 2:64569660:C:G | P751R | 0.998 |
| 2:64569665:T:G | Y753D | 0.998 |
| 2:64569669:C:A | A754E | 0.998 |
| 2:64569678:T:C | L757S | 0.998 |
| 2:64579508:T:C | F806S | 0.998 |
| 2:64579508:T:G | F806C | 0.998 |
| 2:64579529:T:A | L813H | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000019309 (2:64530083 G>C), RS1000053713 (2:64580532 T>A,C), RS1000062885 (2:64560071 C>G), RS1000101717 (2:64525598 T>G), RS1000113001 (2:64526007 A>G), RS1000134198 (2:64534467 CTTATAG>C), RS1000154603 (2:64568457 C>A,T), RS1000156790 (2:64544724 G>A), RS1000162191 (2:64576931 A>C,G), RS1000215924 (2:64541589 T>A), RS1000225395 (2:64566784 A>G), RS1000248676 (2:64541261 G>T), RS1000329305 (2:64562513 C>A,T), RS1000351309 (2:64581713 T>C,G), RS1000382342 (2:64555770 A>G)
Disease associations
OMIM: gene MIM:619628 | 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 |
|---|---|---|
| GCST005851_16 | Delirium | 1.000000e-06 |
| GCST008836_1 | Lung adenocarcinoma | 2.000000e-08 |
| GCST009391_27 | Metabolite levels | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010350 | cholesteryl ester 22:6 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 |
|---|---|---|
| bisphenol F | increases expression, affects cotreatment, increases methylation | 2 |
| Arsenic Trioxide | decreases response to substance, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, affects methylation, increases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| coumarin | increases phosphorylation | 1 |
| 1-nitropyrene | increases expression | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Resveratrol | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation, increases methylation | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Vehicle Emissions | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cannabidiol | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SB89 | HAP1 AFTPH (-) 1 | Cancer cell line | Male |
| CVCL_SB90 | HAP1 AFTPH (-) 2 | Cancer cell line | Male |
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): delirium