Cadherin 16

Alternative Names

  • CDH16
  • Cadherin, Kidney
  • KSP-Cadherin
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OMIM Number

603118

NCBI Gene ID

1014

Uniprot ID

O75309

Length

10,764 bases

No. of Exons

18

No. of isoforms

4

Protein Name

Cadherin-16

Molecular Mass

89923 Da

Amino Acid Count

829

Genomic Location

chr16:66,908,122-66,918,885

Gene Map Locus
16q22.1

Description

This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004062.4:c.950C>TSaudi ArabiaNC_000016.10:g.66913235G>ALikely PathogenicRetinitis PigmentosaNM_004062.4:c.950C>T; NP_004053.1:p.Ala317Val377681344
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