VEZT vezatin, adherens junctions transmembrane protein
Gene ID: 55591, updated on 5-Mar-2024Gene type: protein coding
Also known as: VEZATIN
- See all available tests in GTR for this gene
- Go to complete Gene record for VEZT
- Go to Variation Viewer for VEZT variants
Summary
This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3' UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association meta-analysis identifies new endometriosis risk loci. GeneReviews: Not available | |
Genome-wide association study link novel loci to endometriosis. GeneReviews: Not available |
Genomic context
- Location:
- 12q22
- Sequence:
- Chromosome: 12; NC_000012.12 (95217807..95302799)
- Total number of exons:
- 19
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for VEZT variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- 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
- SNP: GeneViewSNPs linked from GeneView
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.