ANO7
geneOn this page
Also known as NGEPPCANAP5LIPCA-5
Summary
ANO7 (anoctamin 7, HGNC:31677) is a protein-coding gene on chromosome 2q37.3, encoding Anoctamin-7 (Q6IWH7). Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide.
This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 50636 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 427 total — 2 pathogenic, 2 likely-pathogenic
- MANE Select transcript:
NM_001370694
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:31677 |
| Approved symbol | ANO7 |
| Name | anoctamin 7 |
| Location | 2q37.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NGEP, PCANAP5L, IPCA-5 |
| Ensembl gene | ENSG00000146205 |
| Ensembl biotype | protein_coding |
| OMIM | 605096 |
| Entrez | 50636 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 8 protein_coding, 5 retained_intron
ENST00000274979, ENST00000402430, ENST00000402530, ENST00000451047, ENST00000459928, ENST00000471606, ENST00000475532, ENST00000481071, ENST00000487192, ENST00000674324, ENST00000880340, ENST00000880341, ENST00000880342
RefSeq mRNA: 2 — MANE Select: NM_001370694
NM_001001666, NM_001370694
CCDS: CCDS33423, CCDS46563
Canonical transcript exons
ENST00000674324 — 25 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001305115 | 241218239 | 241218381 |
| ENSE00001460033 | 241223662 | 241223781 |
| ENSE00001460034 | 241223186 | 241223276 |
| ENSE00001460036 | 241217686 | 241217891 |
| ENSE00001460037 | 241216093 | 241216238 |
| ENSE00001460038 | 241214805 | 241214902 |
| ENSE00001460039 | 241212572 | 241212626 |
| ENSE00001460040 | 241212094 | 241212205 |
| ENSE00001460041 | 241210468 | 241210570 |
| ENSE00001460042 | 241210295 | 241210393 |
| ENSE00001460043 | 241209498 | 241209635 |
| ENSE00001460044 | 241209285 | 241209428 |
| ENSE00001460045 | 241207574 | 241207670 |
| ENSE00001460046 | 241204865 | 241204955 |
| ENSE00001460048 | 241203333 | 241203498 |
| ENSE00001460049 | 241202194 | 241202304 |
| ENSE00001460050 | 241201298 | 241201355 |
| ENSE00001460051 | 241200089 | 241200225 |
| ENSE00001460052 | 241199316 | 241199423 |
| ENSE00001460053 | 241195703 | 241195845 |
| ENSE00001460054 | 241191194 | 241191251 |
| ENSE00003518153 | 241223905 | 241223955 |
| ENSE00003898163 | 241188677 | 241188766 |
| ENSE00003898463 | 241190057 | 241190171 |
| ENSE00003925683 | 241224097 | 241225976 |
Expression profiles
Bgee: expression breadth ubiquitous, 162 present calls, max score 93.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0344 / max 51.2408, expressed in 1397 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 26504 | 3.1865 | 1304 |
| 26503 | 0.3495 | 174 |
| 26505 | 0.2891 | 136 |
| 26501 | 0.2049 | 61 |
| 202643 | 0.0044 | 1 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 93.22 | silver quality |
| mucosa of transverse colon | UBERON:0004991 | 92.76 | gold quality |
| prostate gland | UBERON:0002367 | 88.65 | gold quality |
| transverse colon | UBERON:0001157 | 87.58 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 86.28 | gold quality |
| rectum | UBERON:0001052 | 85.08 | gold quality |
| small intestine | UBERON:0002108 | 83.51 | gold quality |
| body of stomach | UBERON:0001161 | 83.20 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.59 | gold quality |
| mucosa of stomach | UBERON:0001199 | 79.54 | gold quality |
| stomach | UBERON:0000945 | 79.14 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 76.70 | gold quality |
| intestine | UBERON:0000160 | 76.55 | gold quality |
| colonic epithelium | UBERON:0000397 | 76.11 | gold quality |
| upper arm skin | UBERON:0004263 | 75.09 | gold quality |
| colon | UBERON:0001155 | 74.86 | gold quality |
| kidney epithelium | UBERON:0004819 | 74.79 | gold quality |
| large intestine | UBERON:0000059 | 74.68 | gold quality |
| minor salivary gland | UBERON:0001830 | 73.75 | gold quality |
| fundus of stomach | UBERON:0001160 | 73.29 | gold quality |
| endothelial cell | CL:0000115 | 73.24 | gold quality |
| duodenum | UBERON:0002114 | 72.58 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 72.17 | gold quality |
| mouth mucosa | UBERON:0003729 | 71.38 | gold quality |
| stromal cell of endometrium | CL:0002255 | 70.92 | gold quality |
| colonic mucosa | UBERON:0000317 | 69.91 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 69.46 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 69.10 | silver quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 68.79 | gold quality |
| spinal cord | UBERON:0002240 | 67.96 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.96 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting ANO7, 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-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
Literature-anchored findings (GeneRIF, showing 12)
- expressed only in prostate and prostate camcer is a promising target for the antibody-based therapies of prostate cancer (PMID:14981236)
- Complete coding sequence of TMEM16G cDNA was determined by assembling 25 exons of TMEM16G gene (PMID:15375614)
- description of the novel prostate-restricted molecule D-TMPP widely expressed in prostate cancer tissues (PMID:15761874)
- NGEP is a glycoprotein with predicted glycosylation sites at N809 and N824. When these residues were converted to glutamine, glycosylation was abolished, confirming that the residues are extracellular (PMID:18676855)
- NGEP is a potential target for T cell-mediated immunotherapy of prostate cancer. (PMID:19495750)
- NGEP protein is widely expressed in low-grade to high-grade prostate adenocarcinomas as well as benign prostate tissues, and the intensity of expression is inversely proportional to the level of malignancy. (PMID:23955683)
- high level of NGEP expression could be associated with good prognosis in prostate cancer (PMID:25808443)
- ANO7 genotypes correlate with expression and biochemical relapse, suggesting that ANO7 is a potential PrCa susceptibility gene and that its elevated expression correlates with disease severity and outcome. (PMID:30157291)
- The interactome of the prostate-specific protein Anoctamin 7. (PMID:32176628)
- Reduced anoctamin 7 (ANO7) expression is a strong and independent predictor of poor prognosis in prostate cancer. (PMID:33628598)
- The variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression. (PMID:35043958)
- Transcripts of the Prostate Cancer-Associated Gene ANO7 Are Retained in the Nuclei of Prostatic Epithelial Cells. (PMID:36674564)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ano7 | ENSDARG00000104834 |
| mus_musculus | Ano7 | ENSMUSG00000034107 |
| rattus_norvegicus | Ano7 | ENSRNOG00000023427 |
Paralogs (10): ANO2 (ENSG00000047617), ANO8 (ENSG00000074855), PPP1R7 (ENSG00000115685), ANO1 (ENSG00000131620), ANO3 (ENSG00000134343), ANO4 (ENSG00000151572), ANO10 (ENSG00000160746), ANO5 (ENSG00000171714), ANO6 (ENSG00000177119), ANO9 (ENSG00000185101)
Protein
Protein identifiers
Anoctamin-7 — Q6IWH7 (reviewed: Q6IWH7)
Alternative names: Dresden transmembrane protein of the prostate, IPCA-5, New gene expressed in prostate, Prostate cancer-associated protein 5, Transmembrane protein 16G
All UniProt accessions (5): Q6IWH7, A0A6I8PRE6, A0A6Q8JT31, A0A6Q8JTU6, H7C220
UniProt curated annotations — full annotation on UniProt →
Function. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide. Does not exhibit calcium-activated chloride channel (CaCC) activity. May play a role in cell-cell interactions.
Subcellular location. Cell membrane. Cell junction. Endoplasmic reticulum Cytoplasm. Cytosol.
Tissue specificity. Specifically expressed in epithelial cells of the prostate (at protein level).
Induction. Up-regulated by androgen.
Miscellaneous. The term ‘anoctamin’ was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.
Similarity. Belongs to the anoctamin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6IWH7-1 | 1, NGEP-L | yes |
| Q6IWH7-2 | 2, NGEP-S | |
| Q6IWH7-3 | 3, D-TMPP |
RefSeq proteins (2): NP_001001666, NP_001357623* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007632 | Anoctamin | Family |
| IPR032394 | Anoct_dimer | Domain |
| IPR049452 | Anoctamin_TM | Domain |
Pfam: PF04547, PF16178
Catalyzed reactions (Rhea), 3 shown:
- a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
- a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:38663)
- a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine(out) = a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine(in) (RHEA:38899)
UniProt features (30 total): topological domain 9, transmembrane region 8, splice variant 5, region of interest 2, glycosylation site 2, sequence variant 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6IWH7-F1 | 78.56 | 0.37 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 809, 824
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-2672351 | Stimuli-sensing channels |
| R-HSA-9733458 | Induction of Cell-Cell Fusion |
| R-HSA-1643685 | Disease |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-5663205 | Infectious disease |
| R-HSA-9679506 | SARS-CoV Infections |
| R-HSA-9694516 | SARS-CoV-2 Infection |
| R-HSA-9772573 | Late SARS-CoV-2 Infection Events |
| R-HSA-9824446 | Viral Infection Pathways |
| R-HSA-983712 | Ion channel transport |
MSigDB gene sets: 65 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_INORGANIC_ANION_TRANSPORT, CHANDRAN_METASTASIS_DN, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_CHLORIDE_TRANSPORT, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION, GOBP_LIPID_LOCALIZATION, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_ANCHORING_JUNCTION, GOMF_LIPID_TRANSPORTER_ACTIVITY, GOMF_PROTEIN_DIMERIZATION_ACTIVITY
GO Biological Process (8): monoatomic ion transmembrane transport (GO:0034220), calcium activated phospholipid scrambling (GO:0061588), chloride transmembrane transport (GO:1902476), lipid transport (GO:0006869), establishment of localization in cell (GO:0051649), calcium activated phosphatidylserine scrambling (GO:0061589), calcium activated phosphatidylcholine scrambling (GO:0061590), calcium activated galactosylceramide scrambling (GO:0061591)
GO Molecular Function (4): intracellularly calcium-gated chloride channel activity (GO:0005229), chloride channel activity (GO:0005254), protein dimerization activity (GO:0046983), phospholipid scramblase activity (GO:0017128)
GO Cellular Component (6): endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), plasma membrane (GO:0005886), anchoring junction (GO:0070161), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Ion channel transport | 1 |
| Late SARS-CoV-2 Infection Events | 1 |
| Disease | 1 |
| Viral Infection Pathways | 1 |
| SARS-CoV Infections | 1 |
| SARS-CoV-2 Infection | 1 |
| Infectious disease | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| calcium activated phospholipid scrambling | 3 |
| cellular anatomical structure | 3 |
| plasma membrane phospholipid scrambling | 2 |
| cytoplasm | 2 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| chloride transport | 1 |
| monoatomic anion transmembrane transport | 1 |
| transport | 1 |
| lipid localization | 1 |
| establishment of localization | 1 |
| cellular localization | 1 |
| chloride channel activity | 1 |
| ligand-gated monoatomic anion channel activity | 1 |
| intracellularly calcium-gated channel activity | 1 |
| monoatomic anion channel activity | 1 |
| chloride transmembrane transporter activity | 1 |
| protein binding | 1 |
| intramembrane lipid carrier activity | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell junction | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
620 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANO7 | ACP3 | P15309 | 772 |
| ANO7 | KLK2 | P20151 | 743 |
| ANO7 | KLKB1 | P03952 | 686 |
| ANO7 | KLK3 | P07288 | 675 |
| ANO7 | GBA1 | P04062 | 586 |
| ANO7 | RHBDD2 | Q6NTF9 | 506 |
| ANO7 | CLCA4 | Q14CN2 | 480 |
| ANO7 | CLCA2 | Q9UQC9 | 480 |
| ANO7 | MYBPC1 | Q00872 | 475 |
| ANO7 | PTPRF | P10586 | 469 |
| ANO7 | KANK1 | Q14678 | 465 |
| ANO7 | AR | P10275 | 463 |
| ANO7 | TMEM44 | Q2T9K0 | 462 |
| ANO7 | BROX | Q5VW32 | 459 |
| ANO7 | CLCA1 | A8K7I4 | 447 |
IntAct
0 interactions, top by confidence:
BioGRID (70): ANO7 (Affinity Capture-RNA), ANO7 (Affinity Capture-MS), HSPA1A (Affinity Capture-MS), COPG2 (Affinity Capture-MS), GAR1 (Affinity Capture-MS), NOL10 (Affinity Capture-MS), LLPH (Affinity Capture-MS), HSD17B10 (Affinity Capture-MS), ARPC3 (Affinity Capture-MS), ATP5B (Affinity Capture-MS), COPG1 (Affinity Capture-MS), ALDH18A1 (Affinity Capture-MS), EIF4A1 (Affinity Capture-MS), CAPZB (Affinity Capture-MS), GARS (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2K1Q8, A0A494BA31, B1MTL0, B2RXE2, D3ZBP4, E9Q3M5, F1MH07, O18917, O62667, O88269, P02730, P04919, P04920, P13808, P15575, P16283, P23347, P23348, P23562, P48746, P48751, Q14940, Q14AT5, Q2Y0W8, Q32LP4, Q5DTL9, Q5RB85, Q5RD44, Q60825, Q6IFT6, Q6IWH7, Q6RI88, Q6RVG2, Q6SJP2, Q6U841, Q80ZA5, Q8JZR6, Q8K4V2, Q8NG04, Q8TDZ2
Diamond homologs: A1A5B4, A2AHL1, A6QLE6, P86044, Q14AT5, Q32M45, Q4KMQ2, Q5XXA6, Q6IFT6, Q6IWH7, Q6P9J9, Q75UR0, Q75V66, Q8BHY3, Q8C5H1, Q8CFW1, Q9BYT9, Q9NQ90, Q6PB70, Q9HCE9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
427 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 2 |
| Uncertain significance | 264 |
| Likely benign | 30 |
| Benign | 84 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 153228 | GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 | Pathogenic |
| 562613 | GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1 | Pathogenic |
| 394636 | GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1 | Likely pathogenic |
| 814382 | GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1 | Likely pathogenic |
SpliceAI
5299 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:241190048:T:A | acceptor_gain | 1.0000 |
| 2:241191183:A:AG | acceptor_gain | 1.0000 |
| 2:241191183:AT:A | acceptor_gain | 1.0000 |
| 2:241191184:T:G | acceptor_gain | 1.0000 |
| 2:241202184:T:G | acceptor_gain | 1.0000 |
| 2:241202192:A:AG | acceptor_gain | 1.0000 |
| 2:241202192:AG:A | acceptor_loss | 1.0000 |
| 2:241202192:AGCT:A | acceptor_gain | 1.0000 |
| 2:241202193:G:GA | acceptor_gain | 1.0000 |
| 2:241202193:GC:G | acceptor_gain | 1.0000 |
| 2:241202193:GCT:G | acceptor_gain | 1.0000 |
| 2:241202193:GCTG:G | acceptor_gain | 1.0000 |
| 2:241202193:GCTGT:G | acceptor_gain | 1.0000 |
| 2:241202272:G:GT | donor_gain | 1.0000 |
| 2:241202302:G:GT | donor_gain | 1.0000 |
| 2:241202302:GAC:G | donor_gain | 1.0000 |
| 2:241202305:G:GG | donor_gain | 1.0000 |
| 2:241204863:AG:A | acceptor_gain | 1.0000 |
| 2:241204864:GG:G | acceptor_gain | 1.0000 |
| 2:241204956:G:GG | donor_gain | 1.0000 |
| 2:241209429:G:T | donor_loss | 1.0000 |
| 2:241209430:T:G | donor_loss | 1.0000 |
| 2:241210289:CCGCA:C | acceptor_loss | 1.0000 |
| 2:241210290:CGCA:C | acceptor_loss | 1.0000 |
| 2:241210291:GCAGG:G | acceptor_loss | 1.0000 |
| 2:241210292:CA:C | acceptor_loss | 1.0000 |
| 2:241210293:A:AG | acceptor_gain | 1.0000 |
| 2:241210293:AGGT:A | acceptor_gain | 1.0000 |
| 2:241210294:G:GG | acceptor_gain | 1.0000 |
| 2:241210294:GGT:G | acceptor_gain | 1.0000 |
AlphaMissense
5730 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:241217886:A:C | S779R | 0.994 |
| 2:241217888:C:A | S779R | 0.994 |
| 2:241217888:C:G | S779R | 0.994 |
| 2:241209516:T:C | F468L | 0.993 |
| 2:241209518:T:A | F468L | 0.993 |
| 2:241209518:T:G | F468L | 0.993 |
| 2:241201299:T:C | F240L | 0.990 |
| 2:241201301:C:A | F240L | 0.990 |
| 2:241201301:C:G | F240L | 0.990 |
| 2:241203486:T:C | F347L | 0.989 |
| 2:241203488:C:A | F347L | 0.989 |
| 2:241203488:C:G | F347L | 0.989 |
| 2:241212200:G:C | K610N | 0.987 |
| 2:241212200:G:T | K610N | 0.987 |
| 2:241202290:T:C | F291L | 0.985 |
| 2:241202292:C:A | F291L | 0.985 |
| 2:241202292:C:G | F291L | 0.985 |
| 2:241217700:T:C | F717L | 0.985 |
| 2:241217702:C:A | F717L | 0.985 |
| 2:241217702:C:G | F717L | 0.985 |
| 2:241218317:T:C | F807L | 0.984 |
| 2:241218319:C:A | F807L | 0.984 |
| 2:241218319:C:G | F807L | 0.984 |
| 2:241203405:T:A | W320R | 0.983 |
| 2:241203405:T:C | W320R | 0.983 |
| 2:241217712:T:C | F721L | 0.983 |
| 2:241217714:C:A | F721L | 0.983 |
| 2:241217714:C:G | F721L | 0.983 |
| 2:241217808:C:A | R753S | 0.983 |
| 2:241200203:T:C | F232L | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000109921 (2:241221546 T>G), RS1000255005 (2:241215967 T>A,C), RS1000273750 (2:241233637 T>G), RS1000314930 (2:241225806 G>A), RS1000395223 (2:241235668 T>G), RS1000413473 (2:241186727 C>T), RS1000416588 (2:241238089 A>G), RS1000442385 (2:241229817 G>A), RS1000468774 (2:241197375 C>T), RS1000543633 (2:241187515 G>A), RS1000547325 (2:241201707 A>T), RS1000578429 (2:241201850 G>A,T), RS1000622052 (2:241224955 G>A), RS1000631646 (2:241192497 C>A), RS1000674487 (2:241224749 T>C)
Disease associations
OMIM: gene MIM:605096 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_6 | Prostate cancer | 5.000000e-09 |
| GCST011053_8 | Neuroblastoma (pediatric) | 7.000000e-14 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| abrine | decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation, increases methylation | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_2106 | M-07e | Cancer cell line | Female |
| CVCL_RM07 | M-07e/TPO | Cancer cell line | Female |
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): neuroblastoma