MUC17
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Summary
MUC17 (mucin 17, cell surface associated, HGNC:16800) is a protein-coding gene on chromosome 7q22.1, encoding Mucin-17 (Q685J3). Probably plays a role in maintaining homeostasis on mucosal surfaces.
The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene.
Source: NCBI Gene 140453 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 1,013 total
- MANE Select transcript:
NM_001040105
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16800 |
| Approved symbol | MUC17 |
| Name | mucin 17, cell surface associated |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000169876 |
| Ensembl biotype | protein_coding |
| OMIM | 608424 |
| Entrez | 140453 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 retained_intron, 1 protein_coding, 1 nonsense_mediated_decay
ENST00000306151, ENST00000379439, ENST00000470303, ENST00000497859
RefSeq mRNA: 1 — MANE Select: NM_001040105
NM_001040105
CCDS: CCDS34711
Canonical transcript exons
ENST00000306151 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001125943 | 101050484 | 101050635 |
| ENSE00001125949 | 101049324 | 101049382 |
| ENSE00001125956 | 101048845 | 101048972 |
| ENSE00001125973 | 101047984 | 101048115 |
| ENSE00001125983 | 101031601 | 101043819 |
| ENSE00001481048 | 101031120 | 101031221 |
| ENSE00003490251 | 101051803 | 101051962 |
| ENSE00003501652 | 101051613 | 101051681 |
| ENSE00003538717 | 101052986 | 101053147 |
| ENSE00003600143 | 101053339 | 101053436 |
| ENSE00003646678 | 101056194 | 101056270 |
| ENSE00003675564 | 101058003 | 101058859 |
| ENSE00003889129 | 101020081 | 101020217 |
Expression profiles
Bgee: expression breadth broad, 90 present calls, max score 89.92.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8090 / max 596.8564, expressed in 17 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 80100 | 0.7426 | 15 |
| 80102 | 0.0215 | 9 |
| 80103 | 0.0181 | 6 |
| 80104 | 0.0147 | 5 |
| 80101 | 0.0121 | 7 |
Top tissues by expression
120 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| duodenum | UBERON:0002114 | 89.92 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.00 | gold quality |
| small intestine | UBERON:0002108 | 86.50 | gold quality |
| rectum | UBERON:0001052 | 78.98 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.29 | gold quality |
| intestine | UBERON:0000160 | 64.04 | gold quality |
| transverse colon | UBERON:0001157 | 62.70 | gold quality |
| colonic epithelium | UBERON:0000397 | 55.44 | silver quality |
| colon | UBERON:0001155 | 55.06 | gold quality |
| right lobe of liver | UBERON:0001114 | 50.46 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 50.17 | gold quality |
| vermiform appendix | UBERON:0001154 | 49.98 | gold quality |
| sural nerve | UBERON:0015488 | 48.74 | silver quality |
| islet of Langerhans | UBERON:0000006 | 47.31 | gold quality |
| right lung | UBERON:0002167 | 44.49 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 43.64 | silver quality |
| liver | UBERON:0002107 | 43.60 | gold quality |
| granulocyte | CL:0000094 | 43.31 | silver quality |
| prostate gland | UBERON:0002367 | 43.22 | gold quality |
| muscle tissue | UBERON:0002385 | 43.04 | gold quality |
| mucosa of stomach | UBERON:0001199 | 42.28 | silver quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 41.83 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 41.72 | gold quality |
| bone marrow cell | CL:0002092 | 41.61 | gold quality |
| monocyte | CL:0000576 | 40.94 | gold quality |
| leukocyte | CL:0000738 | 40.53 | gold quality |
| pancreas | UBERON:0001264 | 39.48 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 38.79 | gold quality |
| stromal cell of endometrium | CL:0002255 | 38.52 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 38.41 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 15.38 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CDX2, GATA5, NFKB1, RELA
miRNA regulators (miRDB)
58 targeting MUC17, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| 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-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-548AG | 99.77 | 69.25 | 1492 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-548AI | 99.69 | 69.24 | 1494 |
| HSA-MIR-548BA | 99.69 | 69.14 | 1514 |
| HSA-MIR-570-5P | 99.69 | 69.24 | 1494 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-190A-5P | 99.54 | 71.45 | 933 |
Literature-anchored findings (GeneRIF, showing 17)
- sequence homology & chromosome mapping (PMID:11855812)
- surface localization of the smaller subunit of MUC17 is dependent on its N-glycosylation status (PMID:12888891)
- The MUC17 sequence has been extended toward its 5’-extremity to complete the sequence and localize the promoter and regulatory elements. (PMID:16737958)
- Pdzk1 plays a specific role in stabilizing Muc17 in the apical membrane of small intestinal enterocytes. (PMID:17990980)
- Reflux laryngitis is associated with down-regulation of mucin gene expression. (PMID:18834073)
- The authors demonstrate that apically atypical enteropathogenic Escherichia coli infection is followed by increased production of secreted MUC2 and MUC5AC mucins and membrane-bound MUC3 and MUC4 mucins. (PMID:20065027)
- augments intestinal cell restitution and enhances healing of experimental colitis in mice (PMID:20211273)
- Results indicate that the potential protective effects of this membrane-bound mucin are primarily or secondarily diminished in inflammatory and neoplastic conditions. (PMID:20702471)
- Hypomethylation status in the MUC17 promoter could be a novel epigenetic marker for the diagnosis of Pancreatic ductal adenocarcinomas. (PMID:20926598)
- Both native and exogenous MUC17 play a role in attachment and invasion of enteroinvasive E. coli in colonic cell lines and in maintaining epithelial barrier function. (PMID:21393431)
- The HIF1alpha-mediated hypoxic signal pathway contributes to MUC17 expression, and DNA methylation of hypoxia responsive element could be a determinant of the hypoxic inducibility of MUC17 in pancreatic cancer cells. (PMID:22970168)
- Carbachol stimulated enterocyte MUC17 endocytosis is concomitant with NHE3 internalization and CFTR membrane recruitment. (PMID:23784542)
- MUC17 polymorphisms are involved in endometriosis development and the associated infertility in the Taiwanese population. (PMID:26285705)
- MUC17 inactivated NFkappaB to inhibit gastric cancer cell proliferation in response to pro-inflammatory cytokines. The MUC17 function was dependent on its conserved epidermal growth factor domain and on downstream sequences to enable its interaction with myosin-9, resulting in a regulatory feedback loop between myosin-9, p53, and RhoA, and then activation of p38 to negatively regulate the NFkappaB pathway in gastric ca… (PMID:31262330)
- Overexpression and increased presentation at the plasma membrane of wild-type MUC17 and its phosphodeficient variant MUC17 S-4492A protected Caco-2 cells against adhesion of enteropathogenic Escherichia coli, indicating that C-terminal phosphorylation of MUC17 may play a functional role in epithelial cell protection. (PMID:31387973)
- Acquired resistance to EGFR-TKIs in NSCLC mediates epigenetic downregulation of MUC17 by facilitating NF-kappaB activity via UHRF1/DNMT1 complex. (PMID:36778111)
- MUC17 mutations and methylation are associated with poor prognosis in adult-type diffuse glioma patients. (PMID:37562166)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Muc17 | ENSMUSG00000037390 |
Paralogs (2): MUC3A (ENSG00000169894), MUC13 (ENSG00000173702)
Protein
Protein identifiers
Mucin-17 — Q685J3 (reviewed: Q685J3)
Alternative names: Small intestinal mucin-3
All UniProt accessions (2): Q685J3, E7EPM4
UniProt curated annotations — full annotation on UniProt →
Function. Probably plays a role in maintaining homeostasis on mucosal surfaces.
Subunit / interactions. Interacts via its C-terminus with PDZK1 and this interaction appears important for proper localization.
Subcellular location. Cell membrane Secreted. Cell membrane.
Tissue specificity. Expressed almost exclusively in the intestine. Expression is especially high in both the duodenum and transverse colon. Expressed in mature absorptive cells of the small intestinal villi. No expression is detected in goblet cells. Highly expressed in pancreatic adenocarcinoma tissue (at protein level). Expression is not detectable in normal pancreas, in pancreatitis or in cell lines derived from other cancers.
Post-translational modifications. Probably cleaved within the SEA domain. N-glycosylated. Contains high mannose and complex-type glycans. The forms containing the complex type glycans localize to the cell surface. Not O-glycosylated.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q685J3-1 | 1, Major, Mb-MUC17 | yes |
| Q685J3-2 | 2, Minor, s-MUC17 |
RefSeq proteins (1): NP_001035194* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000082 | SEA_dom | Domain |
| IPR000742 | EGF | Domain |
| IPR036364 | SEA_dom_sf | Homologous_superfamily |
| IPR053311 | Mucosal_Integrity_Assoc | Family |
Pfam: PF01390
UniProt features (256 total): compositionally biased region 115, repeat 59, region of interest 31, sequence variant 20, glycosylation site 13, sequence conflict 5, disulfide bond 3, topological domain 2, splice variant 2, domain 2, signal peptide 1, chain 1, site 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q685J3 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 4243–4244 (cleavage)
Disulfide bonds (3): 4135–4147, 4140–4158, 4160–4169
Glycosylation sites (13): 471, 696, 898, 1345, 2077, 2194, 3344, 4116, 4205, 4236, 4267, 4297, 4305
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-5083625 | Defective GALNT3 causes HFTC |
| R-HSA-5083632 | Defective C1GALT1C1 causes TNPS |
| R-HSA-5083636 | Defective GALNT12 causes CRCS1 |
| R-HSA-5621480 | Dectin-2 family |
| R-HSA-913709 | O-linked glycosylation of mucins |
| R-HSA-977068 | Termination of O-glycan biosynthesis |
| R-HSA-1643685 | Disease |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-3781865 | Diseases of glycosylation |
| R-HSA-3906995 | Diseases associated with O-glycosylation of proteins |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5173105 | O-linked glycosylation |
| R-HSA-5621481 | C-type lectin receptors (CLRs) |
| R-HSA-5668914 | Diseases of metabolism |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 50 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_CELL_SURFACE, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, GOCC_APICAL_PLASMA_MEMBRANE, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOCC_APICAL_PART_OF_CELL, GOBP_HOMEOSTATIC_PROCESS, GOCC_SIDE_OF_MEMBRANE, GOCC_PLASMA_MEMBRANE_REGION, GOCC_GOLGI_LUMEN, WUNDER_INFLAMMATORY_RESPONSE_AND_CHOLESTEROL_UP, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOCC_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS
GO Biological Process (1): cellular homeostasis (GO:0019725)
GO Molecular Function (3): PDZ domain binding (GO:0030165), extracellular matrix constituent, lubricant activity (GO:0030197), protein binding (GO:0005515)
GO Cellular Component (8): extracellular region (GO:0005576), Golgi lumen (GO:0005796), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), apical plasma membrane (GO:0016324), extracellular matrix (GO:0031012), membrane (GO:0016020), cell periphery (GO:0071944)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Diseases associated with O-glycosylation of proteins | 3 |
| C-type lectin receptors (CLRs) | 1 |
| O-linked glycosylation | 1 |
| O-linked glycosylation of mucins | 1 |
| Immune System | 1 |
| Diseases of metabolism | 1 |
| Diseases of glycosylation | 1 |
| Post-translational protein modification | 1 |
| Innate Immune System | 1 |
| Disease | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| homeostatic process | 1 |
| protein domain specific binding | 1 |
| extracellular matrix structural constituent | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| intracellular organelle lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
1287 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MUC17 | MUC13 | Q9H3R2 | 934 |
| MUC17 | MUC2 | Q02817 | 884 |
| MUC17 | MUC15 | Q8N387 | 870 |
| MUC17 | MUC20 | Q8N307 | 865 |
| MUC17 | MUC16 | Q8WXI7 | 854 |
| MUC17 | MUC12 | Q9UKN1 | 849 |
| MUC17 | MUC5B | Q9HC84 | 833 |
| MUC17 | MUC5AC | P98088 | 830 |
| MUC17 | MUC6 | Q6W4X9 | 788 |
| MUC17 | MUC1 | P13931 | 783 |
| MUC17 | MUC7 | Q8TAX7 | 773 |
| MUC17 | MUC19 | Q7Z5P9 | 727 |
| MUC17 | MUC21 | Q5SSG8 | 720 |
| MUC17 | MUC4 | Q99102 | 627 |
| MUC17 | PDZK1 | Q5T2W1 | 611 |
IntAct
0 interactions, top by confidence:
BioGRID (4): MUC17 (Affinity Capture-MS), MUC17 (Affinity Capture-MS), MUC17 (Cross-Linking-MS (XL-MS)), NCL (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A0U1RQI7, A0A494C071, A6QL64, A6ZXT5, A7XUY5, E2RYF6, E2RYF7, O60732, O88799, P06916, P12021, P18583, P41809, P43537, P47179, P53353, Q00130, Q02496, Q02505, Q04893, Q05049, Q12459, Q14242, Q32KG4, Q4ZJY7, Q4ZJZ0, Q54QZ8, Q5H9R4, Q5H9T9, Q5JPF3, Q5SSG8, Q5XHX6, Q60528, Q63661, Q685J3, Q6P902, Q86VQ3, Q8JZM8, Q8N307, Q8NET4
Diamond homologs: Q685J3, Q9UKN1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
1013 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 913 |
| Likely benign | 78 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1924 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:101020216:GG:G | donor_gain | 1.0000 |
| 7:101020217:GG:G | donor_gain | 1.0000 |
| 7:101031118:A:AG | acceptor_gain | 1.0000 |
| 7:101031119:G:GC | acceptor_gain | 1.0000 |
| 7:101031119:GAC:G | acceptor_gain | 1.0000 |
| 7:101047982:A:AG | acceptor_gain | 1.0000 |
| 7:101047983:G:GG | acceptor_gain | 1.0000 |
| 7:101048112:ATAGG:A | donor_loss | 1.0000 |
| 7:101048114:AGG:A | donor_loss | 1.0000 |
| 7:101048115:GGTG:G | donor_loss | 1.0000 |
| 7:101048116:G:GG | donor_gain | 1.0000 |
| 7:101048116:GTGA:G | donor_loss | 1.0000 |
| 7:101048117:T:G | donor_loss | 1.0000 |
| 7:101049382:GGTA:G | donor_loss | 1.0000 |
| 7:101049383:G:C | donor_loss | 1.0000 |
| 7:101049383:G:GG | donor_gain | 1.0000 |
| 7:101049384:T:A | donor_loss | 1.0000 |
| 7:101050482:A:AG | acceptor_gain | 1.0000 |
| 7:101050483:G:GC | acceptor_gain | 1.0000 |
| 7:101050569:G:GT | donor_gain | 1.0000 |
| 7:101050596:G:GG | donor_gain | 1.0000 |
| 7:101051608:CACA:C | acceptor_loss | 1.0000 |
| 7:101051610:C:G | acceptor_gain | 1.0000 |
| 7:101051610:CA:C | acceptor_loss | 1.0000 |
| 7:101051611:A:AG | acceptor_gain | 1.0000 |
| 7:101051611:AGAC:A | acceptor_loss | 1.0000 |
| 7:101051612:G:GA | acceptor_gain | 1.0000 |
| 7:101051612:GA:G | acceptor_gain | 1.0000 |
| 7:101051612:GAC:G | acceptor_gain | 1.0000 |
| 7:101051612:GACA:G | acceptor_gain | 1.0000 |
AlphaMissense
28727 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:101048962:T:G | F4218C | 0.997 |
| 7:101051808:T:A | C4317S | 0.997 |
| 7:101051809:G:C | C4317S | 0.997 |
| 7:101048878:T:C | L4190P | 0.996 |
| 7:101048904:T:C | F4199L | 0.996 |
| 7:101048906:C:A | F4199L | 0.996 |
| 7:101048906:C:G | F4199L | 0.996 |
| 7:101048950:T:G | F4214C | 0.996 |
| 7:101048961:T:C | F4218L | 0.996 |
| 7:101048962:T:C | F4218S | 0.996 |
| 7:101048963:C:A | F4218L | 0.996 |
| 7:101048963:C:G | F4218L | 0.996 |
| 7:101051809:G:A | C4317Y | 0.996 |
| 7:101051810:C:G | C4317W | 0.996 |
| 7:101051874:T:A | C4339S | 0.996 |
| 7:101051875:G:C | C4339S | 0.996 |
| 7:101048950:T:C | F4214S | 0.995 |
| 7:101050519:T:C | L4253P | 0.995 |
| 7:101051621:T:A | C4295S | 0.995 |
| 7:101051622:G:C | C4295S | 0.995 |
| 7:101051625:T:G | F4296C | 0.995 |
| 7:101051808:T:C | C4317R | 0.995 |
| 7:101051931:T:A | C4358S | 0.995 |
| 7:101051932:G:C | C4358S | 0.995 |
| 7:101048917:T:C | L4203P | 0.994 |
| 7:101050513:T:A | V4251D | 0.994 |
| 7:101051874:T:C | C4339R | 0.994 |
| 7:101051916:T:A | C4353S | 0.994 |
| 7:101051917:G:C | C4353S | 0.994 |
| 7:101048085:T:A | C4169S | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000004435 (7:101039451 G>A,T), RS1000056282 (7:101018863 G>GGCACCCCT), RS1000107887 (7:101050287 G>A,C,T), RS1000140890 (7:101041536 T>G), RS1000143207 (7:101045471 G>A), RS1000175993 (7:101028879 C>A,G,T), RS1000380907 (7:101053986 G>A), RS1000464303 (7:101029894 C>T), RS1000672526 (7:101037237 T>C,G), RS1000786179 (7:101058683 C>G), RS1000796977 (7:101028991 C>T), RS1000849679 (7:101057848 C>T), RS1000907693 (7:101057511 G>A), RS1001077508 (7:101023704 C>A,T), RS1001137305 (7:101024720 T>C)
Disease associations
OMIM: gene MIM:608424 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007250_7 | Nonunion in individuals with fractures | 3.000000e-07 |
| GCST010241_382 | Apolipoprotein A1 levels | 6.000000e-10 |
| GCST010478_3 | Chronic kidney disease | 2.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009707 | fractures, ununited |
| EFO:0004614 | apolipoprotein A 1 measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
4 total (human), top 4 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases mutagenesis | 2 |
| Estradiol | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic kidney disease