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Gene id |
9414 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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|
Gene Symbol |
TJP2 Gene UCSC Ensembl |
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Aliases |
C9DUPq21.11, DFNA51, DUP9q21.11, PFIC4, X104, ZO2 |
|
Gene name |
tight junction protein 2 |
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Alternate names |
tight junction protein ZO-2, Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2, zonula occludens protein 2, |
|
Gene location |
9q21.11 (69121005: 69255207) Exons: 31 NC_000001.11
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|
Gene summary(Entrez) |
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 ass
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|
OMIM |
607709 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Familial hypercholanemia | GAD: H01935 |
| Obesity | GAD: 22044751 |
| Associated with male infertility | MIK: 19692573 |
| Progressive familial intrahepatic cholestasis | KEGG: H00624 |
| Associated with male infertility | MIK: 19692573 |
| Teratozoospermia | MIK: 17327269 |
|
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19692573 |
Associated
with male
infertili
ty
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
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