Cadherin 3

Alternative Names

  • CDH3
  • Cadherin, Placental
  • P-Cadherin
  • PCAD
  • Calcium-Dependent Adhesion Protein, Placental
  • CDHP
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OMIM Number

114021

NCBI Gene ID

1001

Uniprot ID

P22223

Length

82,660 bases

No. of Exons

18

No. of isoforms

2

Protein Name

Cadherin-3

Molecular Mass

91418 Da

Amino Acid Count

829

Genomic Location

chr16:68,644,913-68,727,572

Gene Map Locus
16q22.1

Description

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. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001793.6:c.1182+1G>ASaudi ArabiaNC_000016.10:g.68682488G>APathogenicEctodermal Dysplasia, Ectrodactyly, and Macular Dystrophy SyndromeNG_009096.1:g.43241G>A; NM_001793.6:c.1182+1G>A
NM_001793.6:c.307C>TSaudi ArabiaNC_000016.10:g.68678194C>TPathogenicPathogenicEctodermal Dysplasia, Ectrodactyly, and Macular Dystrophy SyndromeNG_009096.1:g.38947C>T; NM_001793.6:c.307C>T; NP_001784.2:p.Arg103Ter1157108621866071
NM_001793.6:c.977C>AUnited Arab EmiratesNC_000016.10:g.68681077C>ALikely PathogenicHypotrichosis, Congenital, with Juvenile Macular DystrophyNG_009096.1:g.41830C>A; NM_001793.6:c.977C>A; NP_001784.2:p.Pro326His
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