Recombinant Human Tight junction protein ZO-2 (TJP2), Truncated

Uniprot Id

Q9UDY2

Target Species

Human

Target Name

TJP2

Target Full Name

Tight junction protein 2

Target Function

Plays a role in tight junctions and adherens junctions.

Target Involvement

Familial hypercholanemia (FHCA); Cholestasis, progressive familial intrahepatic, 4 (PFIC4)

Target Subcellular Location

Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, tight junction. Nucleus.

Target Protein Families

MAGUK family

Target 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, he

Target Synonyms

C9DUPq21.11; DFNA51; DUP9q21.11; Friedreich ataxia region gene X104 (tight junction protein ZO-2); MGC26306; PFIC4; Tight junction protein 2; Tight junction protein ZO 2; Tight junction protein ZO-2; TJP2; X104; ZO 2; ZO-2; ZO2; ZO2_HUMAN; Zona occludens 2; Zona occludens protein 2; Zonula occludens protein 2

Target Background

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.