WDFY2
gene geneOn this page
Also known as ZFYVE22
Summary
WDFY2 (WD repeat and FYVE domain containing 2, HGNC:20482) is a protein-coding gene on chromosome 13q14.3, encoding WD repeat and FYVE domain-containing protein 2 (Q96P53). Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2.
This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist.
Source: NCBI Gene 115825 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_052950
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20482 |
| Approved symbol | WDFY2 |
| Name | WD repeat and FYVE domain containing 2 |
| Location | 13q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZFYVE22 |
| Ensembl gene | ENSG00000139668 |
| Ensembl biotype | protein_coding |
| OMIM | 610418 |
| Entrez | 115825 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000298125, ENST00000460145, ENST00000612477, ENST00000876143, ENST00000876144, ENST00000923031, ENST00000923032, ENST00000923033, ENST00000944287, ENST00000944288
RefSeq mRNA: 1 — MANE Select: NM_052950
NM_052950
CCDS: CCDS9429
Canonical transcript exons
ENST00000298125 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000939575 | 51660596 | 51660663 |
| ENSE00000939576 | 51719198 | 51719348 |
| ENSE00000939577 | 51727678 | 51727790 |
| ENSE00000939578 | 51739049 | 51739175 |
| ENSE00000939580 | 51755358 | 51755459 |
| ENSE00000939581 | 51756332 | 51756462 |
| ENSE00000995225 | 51703596 | 51703650 |
| ENSE00000995227 | 51675170 | 51675243 |
| ENSE00000995228 | 51758192 | 51758300 |
| ENSE00001092625 | 51584462 | 51584824 |
| ENSE00001476437 | 51759740 | 51767709 |
| ENSE00003598440 | 51751310 | 51751415 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 97.21.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7969 / max 956.8319, expressed in 1818 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 135199 | 14.3452 | 1803 |
| 135200 | 11.4517 | 1734 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 97.21 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.95 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.56 | silver quality |
| gingiva | UBERON:0001828 | 93.31 | gold quality |
| endothelial cell | CL:0000115 | 93.27 | gold quality |
| corpus callosum | UBERON:0002336 | 93.17 | gold quality |
| nipple | UBERON:0002030 | 93.12 | gold quality |
| skin of leg | UBERON:0001511 | 92.70 | gold quality |
| kidney epithelium | UBERON:0004819 | 92.33 | gold quality |
| tibia | UBERON:0000979 | 92.26 | gold quality |
| body of pancreas | UBERON:0001150 | 92.26 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.12 | silver quality |
| monocyte | CL:0000576 | 91.88 | gold quality |
| zone of skin | UBERON:0000014 | 91.77 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.77 | gold quality |
| upper leg skin | UBERON:0004262 | 91.48 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.28 | gold quality |
| leukocyte | CL:0000738 | 91.11 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.14 | gold quality |
| skin of hip | UBERON:0001554 | 89.99 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.67 | silver quality |
| synovial joint | UBERON:0002217 | 89.41 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 89.37 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 89.11 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 89.08 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.01 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 88.95 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 88.93 | gold quality |
| sperm | CL:0000019 | 88.87 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.73 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 46.36 |
| E-ANND-3 | yes | 6.95 |
| E-CURD-135 | no | 748.05 |
| E-MTAB-6379 | no | 301.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
95 targeting WDFY2, 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
Literature-anchored findings (GeneRIF, showing 8)
- The ProF protein partially co-localizes with EEA1 on vesicular structures and binds to the protein kinases Akt and PKCzeta/lambda (protein kinase Czeta/lambda) via its WD-repeat propeller. (PMID:16792529)
- WDFY2, the WD40 and FYVE domain containing protein 2, has roles in endocytosis (PMID:16873553)
- presence of ProF increases the PKCzeta-dependent phosphorylation of VAMP2 in vitro (PMID:17313651)
- CDKN2D-WDFY2 fusion could be an important molecular signature for understanding and classifying sub-lineages among heterogeneous high-grade serous ovarian carcinomas. (PMID:24675677)
- Our results showed that WDFY2 inhibited cancer cell colony formation and migration via suppressing Akt pathway, making it a potential new therapeutic target in prostate cancer. (PMID:28653900)
- WDFY2 regulates exocytosis of MT1-MMP by controlling endosomal sorting of the v-SNARE VAMP3. (PMID:31253801)
- P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development. (PMID:31789342)
- Circ_0115118 regulates endometrial functions through the miR-138-1-3p/WDFY2 axis in patients with PCOSdagger. (PMID:36780172)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdfy2 | ENSDARG00000040453 |
| mus_musculus | Wdfy2 | ENSMUSG00000014547 |
| rattus_norvegicus | Wdfy2 | ENSRNOG00000010042 |
| drosophila_melanogaster | Stam | FBGN0027363 |
| drosophila_melanogaster | Gga | FBGN0030141 |
| drosophila_melanogaster | Wdfy2 | FBGN0032246 |
| caenorhabditis_elegans | stam-1 | WBGENE00004109 |
| caenorhabditis_elegans | WBGENE00008402 |
Paralogs (10): WDFY1 (ENSG00000085449), GGA1 (ENSG00000100083), TOM1 (ENSG00000100284), GGA2 (ENSG00000103365), STAM2 (ENSG00000115145), GGA3 (ENSG00000125447), STAM (ENSG00000136738), TOM1L1 (ENSG00000141198), TOM1L2 (ENSG00000175662), HGS (ENSG00000185359)
Protein
Protein identifiers
WD repeat and FYVE domain-containing protein 2 — Q96P53 (reviewed: Q96P53)
Alternative names: Propeller-FYVE protein, WD40- and FYVE domain-containing protein 2, Zinc finger FYVE domain-containing protein 22
All UniProt accessions (2): Q96P53, A0A087WZX3
UniProt curated annotations — full annotation on UniProt →
Function. Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2. Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti-adipogenetic transcription factor FOXO1 by the kinase AKT1. Plays a role in endosomal control of AKT2 signaling; required for insulin-stimulated AKT2 phosphorylation and glucose uptake and insulin-stimulated phosphorylation of AKT2 substrates. Participates in transferrin receptor endocytosis.
Subunit / interactions. Homodimer. Interacts (via WD repeats 1-3) with AKT1, AKT2, PRKCZ and PRKCI. Interacts with VAMP2. Forms a complex with VAMP2 and PRKCZ. Interacts with FOXO1. Forms a complex with AKT1 and FOXO1.
Subcellular location. Endosome. Early endosome. Cytoplasm.
Domain organisation. The FYVE-type zinc finger is essential for its vesicular localization.
RefSeq proteins (1): NP_443182* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000306 | Znf_FYVE | Domain |
| IPR001680 | WD40_rpt | Repeat |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR017455 | Znf_FYVE-rel | Domain |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR042234 | WDFY1/WDFY2 | Family |
Pfam: PF00400, PF01363
UniProt features (19 total): binding site 8, repeat 7, sequence conflict 2, chain 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96P53-F1 | 94.33 | 0.94 |
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 (8): 290; 314; 317; 322; 325; 344; 347; 287
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 173 (showing top):
GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, LIAO_METASTASIS, GOBP_FAT_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, RIGGI_EWING_SARCOMA_PROGENITOR_UP, GOBP_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, chr13q14, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, GOBP_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS, GOBP_REGULATION_OF_PROTEIN_METABOLIC_PROCESS
GO Biological Process (2): positive regulation of protein phosphorylation (GO:0001934), positive regulation of fat cell differentiation (GO:0045600)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): early endosome (GO:0005769), vesicle (GO:0031982), cytoplasm (GO:0005737), endosome (GO:0005768)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of protein phosphorylation | 1 |
| protein phosphorylation | 1 |
| positive regulation of protein modification process | 1 |
| positive regulation of phosphorylation | 1 |
| fat cell differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of fat cell differentiation | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| endosome | 1 |
| membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
1696 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDFY2 | TFRC | P02786 | 687 |
| WDFY2 | WDFY4 | Q6ZS81 | 578 |
| WDFY2 | AKT1 | P31749 | 544 |
| WDFY2 | CATSPERZ | Q9NTU4 | 526 |
| WDFY2 | SERPINE3 | A8MV23 | 510 |
| WDFY2 | TBC1D31 | Q96DN5 | 488 |
| WDFY2 | CLDN15 | P56746 | 485 |
| WDFY2 | CDC123 | O75794 | 478 |
| WDFY2 | APPL1 | Q9UKG1 | 470 |
| WDFY2 | SLC17A5 | Q9NRA2 | 464 |
| WDFY2 | CMC2 | Q9NRP2 | 440 |
| WDFY2 | CDKL1 | Q00532 | 440 |
| WDFY2 | NOL10 | Q9BSC4 | 438 |
| WDFY2 | EEA1 | Q15075 | 437 |
| WDFY2 | CDKN2D | P55273 | 428 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARL6IP1 | WDFY2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WDFY2 | RPRM | psi-mi:“MI:0915”(physical association) | 0.560 |
| YIF1A | WDFY2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYP | WDFY2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WDFY2 | NUDC | psi-mi:“MI:0915”(physical association) | 0.560 |
| DAP3 | PNMA6A | psi-mi:“MI:0914”(association) | 0.530 |
| PNOC | CETN3 | psi-mi:“MI:0914”(association) | 0.530 |
| WDFY2 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RBM17 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC7A3 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| WDFY2 | ARL6IP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| WDFY2 | YIF1A | psi-mi:“MI:0915”(physical association) | 0.000 |
| WDFY2 | RPRM | psi-mi:“MI:0915”(physical association) | 0.000 |
| WDFY2 | SYP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (77): ERCC6L (Affinity Capture-MS), PALLD (Affinity Capture-MS), RBM17 (Affinity Capture-MS), RUFY1 (Affinity Capture-MS), RBM26 (Affinity Capture-MS), UTP6 (Affinity Capture-MS), GPD2 (Affinity Capture-MS), U2SURP (Affinity Capture-MS), MESDC2 (Affinity Capture-MS), NUP54 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), CHERP (Affinity Capture-MS), CCDC51 (Affinity Capture-MS), EFNB1 (Affinity Capture-MS)
ESM2 similar proteins: A0AUS0, A8XXC7, B3RQN1, B6K7R8, C5DF48, E9Q4P1, F4INY4, G5EEG7, O74453, O94394, P38123, P62883, P62884, Q18964, Q25306, Q2KIY3, Q2TAY7, Q2TBS9, Q38SD2, Q3EBD3, Q3MKM6, Q3UHC2, Q3UKJ7, Q5FVN8, Q5JTN6, Q5ZMC3, Q5ZME8, Q67UX0, Q6C953, Q6NRT3, Q6TNS2, Q76B40, Q7ZVA0, Q8BUB4, Q8H594, Q8IWB7, Q8N9V3, Q8SRB0, Q8W117, Q91WQ5
Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFP5, A2QWA2, A3LX75, A4QTV1, A4RF61, A8QCE4, A8XJZ8, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, E9Q4P1, O12940, O13821, O14964, O60784, O76902, O88746, P0CR78, P0CR79, P0CS26, P0CS27, P40343, P87157, Q0CJV3, Q0P4S0, Q0U4Z8, Q0V8S0, Q10410, Q13615, Q15075
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3391 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:51584824:GGT:G | donor_loss | 1.0000 |
| 13:51584825:G:T | donor_loss | 1.0000 |
| 13:51584826:T:G | donor_loss | 1.0000 |
| 13:51675244:G:GG | donor_gain | 1.0000 |
| 13:51703590:TTACA:T | acceptor_loss | 1.0000 |
| 13:51703591:TACAG:T | acceptor_loss | 1.0000 |
| 13:51703593:CA:C | acceptor_loss | 1.0000 |
| 13:51703594:A:AG | acceptor_gain | 1.0000 |
| 13:51703595:G:GG | acceptor_gain | 1.0000 |
| 13:51703595:G:GT | acceptor_loss | 1.0000 |
| 13:51703595:GGA:G | acceptor_gain | 1.0000 |
| 13:51739176:G:GG | donor_gain | 1.0000 |
| 13:51751308:A:AG | acceptor_gain | 1.0000 |
| 13:51751309:G:GG | acceptor_gain | 1.0000 |
| 13:51751309:GC:G | acceptor_gain | 1.0000 |
| 13:51751412:GGAG:G | donor_gain | 1.0000 |
| 13:51751413:GAGG:G | donor_gain | 1.0000 |
| 13:51751414:AGGTA:A | donor_loss | 1.0000 |
| 13:51751415:GGTA:G | donor_loss | 1.0000 |
| 13:51751416:G:GA | donor_loss | 1.0000 |
| 13:51755355:A:AG | acceptor_gain | 1.0000 |
| 13:51755356:A:G | acceptor_gain | 1.0000 |
| 13:51756458:GAAGA:G | donor_gain | 1.0000 |
| 13:51756460:AGA:A | donor_gain | 1.0000 |
| 13:51756461:GA:G | donor_gain | 1.0000 |
| 13:51756461:GAG:G | donor_gain | 1.0000 |
| 13:51756462:AG:A | donor_loss | 1.0000 |
| 13:51756463:G:GG | donor_gain | 1.0000 |
| 13:51756464:TAA:T | donor_loss | 1.0000 |
| 13:51584825:G:GG | donor_gain | 0.9900 |
AlphaMissense
2650 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:51739126:T:A | W226R | 1.000 |
| 13:51739126:T:C | W226R | 1.000 |
| 13:51739128:G:C | W226C | 1.000 |
| 13:51739128:G:T | W226C | 1.000 |
| 13:51751389:T:A | W269R | 1.000 |
| 13:51751389:T:C | W269R | 1.000 |
| 13:51755367:T:A | W281R | 1.000 |
| 13:51755367:T:C | W281R | 1.000 |
| 13:51755369:G:C | W281C | 1.000 |
| 13:51755369:G:T | W281C | 1.000 |
| 13:51755385:T:A | C287S | 1.000 |
| 13:51755385:T:C | C287R | 1.000 |
| 13:51755386:G:A | C287Y | 1.000 |
| 13:51755386:G:C | C287S | 1.000 |
| 13:51755387:C:G | C287W | 1.000 |
| 13:51755406:T:C | F294L | 1.000 |
| 13:51755408:C:A | F294L | 1.000 |
| 13:51755408:C:G | F294L | 1.000 |
| 13:51755412:T:A | W296R | 1.000 |
| 13:51755412:T:C | W296R | 1.000 |
| 13:51755414:G:C | W296C | 1.000 |
| 13:51755414:G:T | W296C | 1.000 |
| 13:51755455:G:C | R310T | 1.000 |
| 13:51755456:A:C | R310S | 1.000 |
| 13:51755456:A:T | R310S | 1.000 |
| 13:51756332:C:G | H312D | 1.000 |
| 13:51756335:C:G | H313D | 1.000 |
| 13:51756337:C:A | H313Q | 1.000 |
| 13:51756337:C:G | H313Q | 1.000 |
| 13:51756338:T:A | C314S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000016727 (13:51625859 A>G), RS1000029056 (13:51672015 C>A), RS1000033571 (13:51653070 A>G), RS1000050857 (13:51695753 C>G,T), RS1000057081 (13:51685475 G>A,T), RS1000062895 (13:51679002 A>C), RS1000081347 (13:51608636 G>A,C), RS1000120137 (13:51586517 T>C), RS1000133711 (13:51658988 G>A,T), RS1000155429 (13:51614135 A>G), RS1000172116 (13:51752604 G>A,C), RS1000177014 (13:51754988 T>C), RS1000178189 (13:51717152 A>G), RS1000179457 (13:51703403 T>A), RS1000204621 (13:51753017 G>T)
Disease associations
OMIM: gene MIM:610418 | 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 |
|---|---|---|
| GCST009440_14 | Age-related cognitive decline (attention/processing speed) (slope of z-scores) | 4.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007710 | cognitive decline measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | decreases methylation | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Diazinon | increases methylation | 1 |
| Hydrogen Peroxide | decreases expression | 1 |
| Ozone | affects cotreatment, decreases expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
| Dronabinol | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
Cellosaurus cell lines
7 cell lines: 7 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_3768 | OV-90 | Cancer cell line | Female |
| CVCL_4Z23 | OV90C-A | Cancer cell line | Female |
| CVCL_4Z24 | OV90C-D | Cancer cell line | Female |
| CVCL_4Z25 | OV90D-6 | Cancer cell line | Female |
| CVCL_4Z26 | OV90D-7 | Cancer cell line | Female |
| CVCL_4Z27 | OV90P-3 | Cancer cell line | Female |
| CVCL_4Z28 | OV90P-7 | 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.