Junctional Cadherin 5-Associated Protein

Alternative Names

  • JCAD
  • KIAA1462
  • Junctional Protein Associated With Coronary Artery Disease
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OMIM Number

614398

NCBI Gene ID

57608

Uniprot ID

Q9P266

Length

102,692 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Junctional protein associated with coronary artery disease

Molecular Mass

148351 Da

Amino Acid Count

1359

Genomic Location

chr10:30,012,802-30,115,493

Gene Map Locus
10p11.23

Description

This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001350001.1:c.714G>AUnited Arab EmiratesNC_000010.11:g.30029020C>TAssociationCoronary Artery Disease, Autosomal Dominant, 1NM_001350001.1:c.714G>A; NP_001336930.1:p.Pro238=2478835
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