Primary Identifier | MGI:1341872 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 21873 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including cell adhesion molecule binding activity; protein tyrosine kinase binding activity; and transmembrane transporter binding activity. Acts upstream of or within negative regulation of osteoclast development and negative regulation of tumor necrosis factor-mediated signaling pathway. Located in nucleus; plasma membrane; and tight junction. Is expressed in several structures, including early conceptus; genitourinary system; inner ear; neural ectoderm; and tooth. Human ortholog(s) of this gene implicated in disease of metabolism and progressive familial intrahepatic cholestasis 4. Orthologous to human TJP2 (tight junction protein 2). PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells. [provided by MGI curators] |