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_001170414.2, NM_001170415.1, NM_001170416.1, NM_001170630.1, NM_004817.3, NM_201629.3, XM_005252311.1, XM_005252312.1, XM_005252313.1, XM_005252314.1, XM_005252315.1
Associated with diseases PFIC-4, Hypercholanemia, familial
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 199
Unique public DNA variants reported 29
Individuals with public variants 35
Hidden variants 237
Date created October 30, 2013
Date last updated September 28, 2016
Version TJP2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:11828
Entrez Gene 9414
PubMed articles TJP2
OMIM - Gene 607709
OMIM - Diseases PFIC-4 (cholestasis, progressive familial intrahepatic, type 4 (PFIC-4))
Hypercholanemia, familial
HGMD TJP2
GeneCards TJP2
GeneTests TJP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020105 9 Manually created transcript. (removed from reference sequence) NM_001170630.1 - 199
00020106 9 Manually created transcript. (removed from reference sequence) NM_004817.3 - 197
00007999 9 transcript variant 5 NM_001170414.2 NP_001163885.1 178
00020107 9 Manually created transcript. NM_201629.3 - 178
00020103 9 Manually created transcript. (removed from reference sequence) NM_001170415.1 - 175
00020104 9 Manually created transcript. NM_001170416.1 - 175
00047774 9 transcript variant X2 XM_005252312.1 XP_005252369.1 -
00047775 9 transcript variant X5 XM_005252315.1 XP_005252372.1 -
00047776 9 transcript variant X4 XM_005252314.1 XP_005252371.1 -
00047777 9 transcript variant X3 XM_005252313.1 XP_005252370.1 -
00047778 9 transcript variant X1 XM_005252311.1 XP_005252368.1 -


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