TJP2 Antibody – Rabbit Polyclonal

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]

Function: Plays a role in tight junctions and adherens junctions.

Subunit structure: Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs in the nucleus. Interacts with SCRIB. Ref.10 Ref.16 Ref.20

Subcellular location: Cell junction › adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side

By similarity. Cell junction › tight junction

By similarity. Nucleus

By similarity. Note: Also nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures

By similarity.

Tissue specificity: This protein is found in epithelial cell junctions. Isoform A1 is abundant in the heart and brain. Detected in brain and skeletal muscle. It is present almost exclusively in normal tissues. Isoform C1 is expressed at high level in the kidney, pancreas, heart and placenta. Not detected in brain and skeletal muscle. Found in normal as well as in most neoplastic tissues. Ref.2

Involvement in disease: Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.Note: The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Ref.21

Sequence similarities: Belongs to the MAGUK family.Contains 1 guanylate kinase-like domain.Contains 3 PDZ (DHR) domains.Contains 1 SH3 domain.

Sequence caution: The sequence AAA61300.1 differs from that shown. Reason: Frameshift at positions 1086, 1092 and 1095.