Junctional Adhesion Molecule 3

Back to search Result
OMIM Number

606871

NCBI Gene ID

83700

Uniprot ID

Q9BX67

Length

82,930 bases

No. of Exons

9

No. of isoforms

2

Protein Name

Junctional adhesion molecule C

Molecular Mass

35020 Da

Amino Acid Count

310

Genomic Location

chr11:134,069,071-134,152,000

Gene Map Locus
11q25

Description

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032801.4:c.612+1G>TUnited Arab EmiratesNC_000011.10:g.134144995G>TPathogenicLikely Pathogenic, PathogenicHemorrhagic Destruction of the Brain, Subependymal Calcification, and CataractsNG_028348.1:g.81071G>T; NM_032801.4:c.612+1G>T; NP_116190.3:p.?76170042730607
NM_032801.5:c.2T>GMoroccoNC_000011.10:g.134069085T>GPathogenicPathogenicHemorrhagic Destruction of the Brain, Subependymal Calcification, and CataractsNG_028348.1:g.5161T>G; NM_032801.5:c.2T>G; NP_001192258.1:p.Met1Thr39751467841883
© CAGS 2024. All rights reserved.