CDH1 cadherin 1
Gene ID: 999, updated on 10-Dec-2024Gene type: protein coding
Also known as: UVO; CDHE; ECAD; LCAM; Arc-1; BCDS1; CD324
- See all available tests in GTR for this gene
- Go to complete Gene record for CDH1
- Go to Variation Viewer for CDH1 variants
Summary
This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Blepharocheilodontic syndrome 1 | See labs |
| Endometrial carcinoma | See labs |
| Familial cancer of breast MedGen: C0346153OMIM: 114480GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer | See labs |
| Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. GeneReviews: Not available | |
| Hereditary diffuse gastric adenocarcinoma | See labs |
| Malignant tumor of prostate MedGen: C0376358GeneReviews: Not available | See labs |
| Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. GeneReviews: Not available | |
| Ovarian neoplasm MedGen: C0919267GeneReviews: Not available | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-10) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 16q22.1
- Sequence:
- Chromosome: 16; NC_000016.10 (68737292..68835537)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CDH1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CDH1 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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