TJP2 tight junction protein 2
Gene ID: 9414, updated on 7-Apr-2024Gene type: protein coding
Also known as: ZO2; X104; FHCA1; PFIC4; DFNA51; DUP9q21.11; C9DUPq21.11
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- Go to complete Gene record for TJP2
- Go to Variation Viewer for TJP2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cholestasis, progressive familial intrahepatic, 4 | See labs |
| Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. GeneReviews: Not available | |
| Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study. GeneReviews: Not available | |
| Hypercholanemia, familial 1 | See labs |
Genomic context
- Location:
- 9q21.11
- Sequence:
- Chromosome: 9; NC_000009.12 (69121264..69255208)
- Total number of exons:
- 35
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TJP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TJP2 database
- Variation ViewerRelated Variants
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