CDH11

Chr 16

cadherin 11

Also known as: CAD11, CDHOB, ESWS, OB, OSF-4, TBHS2

NCBI Gene: 1009 ENSG00000140937 UniProt: P55287

This gene encodes a type II cadherin that mediates calcium-dependent cell-cell adhesion and is required for proper focal adhesion assembly and regulation of cell migration, with specific function in bone development and maintenance. Mutations cause Elsahy-Waters syndrome and Teebi hypertelorism syndrome 2, both characterized by craniofacial abnormalities and hypertelorism. The gene shows both autosomal recessive and autosomal dominant inheritance patterns and is highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtElsahy-Waters syndrome

UniProtTeebi hypertelorism syndrome 2

Clinical highlights

Gene-disease validity (ClinGen)

Elsahy-Waters syndrome · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.16

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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