The TJP2 gene homepage

General information
Gene symbol TJP2
Gene name tight junction protein 2
Chromosome 9
Chromosomal band q13-q21
Imprinted Unknown
Genomic reference NG_016342.1
Transcript reference NM_004817.3
Exon/intron information NM_004817.3 exon/intron table
Associated with diseases FHCA, PFIC, PFIC4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 104
Unique public DNA variants reported 95
Individuals with public variants 81
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated August 10, 2022
Version TJP2:220810

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004817.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 11828
Entrez Gene 9414
PubMed articles TJP2
OMIM - Gene 607709
OMIM - Diseases FHCA (hypercholanemia, familial (FHCA))
PFIC4 (cholestasis, intrahepatic, familial, progressive, type 4 (PFIC-4))
GeneCards TJP2
GeneTests TJP2
Orphanet TJP2

Active transcripts




NCBI ID     

NCBI Protein ID     

00024108 9 transcript variant 1 NM_004817.3 NP_004808.2 104

Copyright & disclaimer
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