Cadherin 11

Alternative Names

  • CDH11
  • Cadherin, Osteoblast
  • OB-Cadherin
  • CDHOB

Associated Diseases

Elsahy-Waters Syndrome
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OMIM Number

600023

NCBI Gene ID

1009

Uniprot ID

P55287

Length

179,992 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Cadherin-11

Molecular Mass

87965 Da

Amino Acid Count

796

Genomic Location

chr16:64,943,753-65,123,744

Gene Map Locus
16q21

Description

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. [From RefSeq]

Molecular Genetics

The CDH11 gene is located on the long arm of chromosome 16. It spans a length of 182 kb of DNA and its coding sequence is spread across 18 exons. The protein product encoded by CDH11 has a molecular mass of 87.9 kDa and consists of 796 amino acids. Alternative splicing results in an additional isoform made up of 693 amino acids. The gene is expressed mainly in the brain and osteoblasts but is also detected in the ovary, amniocytes and urine.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001797.4:c.999+1G>TSaudi ArabiaNC_000016.10:g.64988156C>APathogenicLikely PathogenicElsahy-Waters SyndromeNG_029491.2:g.138861G>T; NM_001797.4:c.999+1G>T1555515331523097
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