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TJP2 - tight junction protein 2
- Synonym(s) : Friedreich ataxia region gene X104 (tight junction protein ZO-2), X104, ZO2, ZO-2, zona occludens 2
- Previous symbols and names : DFNA51, deafness, autosomal dominant 51
- Type : gene with protein product
- Chromosomal location : 9q21.11
- OMIM: 607709
- HGNC: 11828
- UniProtKB: Q9UDY2
- Genatlas: TJP2
- Ensembl: ENSG00000119139
- IUPHAR-DB: -
- Reactome: Q9UDY2
- LOVD: TJP2
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635 
- Disease-causing germline mutation(s) in Familial hypercholanemia
ORPHA:238475 - Disease-causing germline mutation(s) in Progressive familial intrahepatic cholestasis type 4
ORPHA:480483
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
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