TJP2 gene

tight junction protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

From UniProt:

Plays a role in tight junctions and adherens junctions.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Progressive familial intrahepatic cholestasis 4
  • Hypercholanemia, familial

From UniProt:

Cholestasis, progressive familial intrahepatic, 4 (PFIC4): A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. [MIM:615878]

Familial hypercholanemia (FHCA): A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. [MIM:607748]

Cytogenetic Location: 9q21.11, which is the long (q) arm of chromosome 9 at position 21.11

Molecular Location: base pairs 69,099,907 to 69,255,208 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q21.11, which is the long (q) arm of chromosome 9 at position 21.11
  • C9DUPq21.11
  • DFNA51
  • DUP9q21.11
  • PFIC4
  • X104
  • ZO2