MUC17 mucin 17, cell surface associated
Gene ID: 140453, updated on 5-Mar-2024Gene type: protein coding
Also known as: MUC3; MUC-3; MUC-17
- See all available tests in GTR for this gene
- Go to complete Gene record for MUC17
- Go to Variation Viewer for MUC17 variants
Summary
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. [provided by RefSeq, Nov 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. GeneReviews: Not available |
Genomic context
- Location:
- 7q22.1
- Sequence:
- Chromosome: 7; NC_000007.14 (101020081..101058859)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MUC17 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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