CDH11 cadherin 11
Gene ID: 1009, updated on 28-Oct-2024Gene type: protein coding
Also known as: OB; ESWS; CAD11; CDHOB; OSF-4; TBHS2
- See all available tests in GTR for this gene
- Go to complete Gene record for CDH11
- Go to Variation Viewer for CDH11 variants
Summary
This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Elsahy-Waters syndrome | See labs |
| Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. GeneReviews: Not available | |
| Teebi hypertelorism syndrome 2 | See labs |
Genomic context
- Location:
- 16q21
- Sequence:
- Chromosome: 16; NC_000016.10 (64943753..65123744, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CDH11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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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