Gene id |
10207 |
Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
PATJ Gene UCSC Ensembl |
Aliases |
Cipp, INADL, InaD-like, hINADL |
Gene name |
PATJ crumbs cell polarity complex component |
Alternate names |
inaD-like protein, PALS1-associated tight junction protein, PDZ domain protein, channel-interacting PDZ domain protein, channel-interacting PDZ domain-containing protein, inactivation no after-potential D-like protein, inactivation-no-afterpotential D-like, prot, |
Gene location |
1p31.3 (61742476: 62163914) Exons: 52 NC_000001.11
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Gene summary(Entrez) |
This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to th
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OMIM |
603199 |
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Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
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PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
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19 (6 controls , 13 cases)
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Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
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18
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Male infertility |
GSE26881
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Show abstract |
28606200 |
Cryptorchi dism
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Monozgotic twin s (1 control, I cwith cryptorc hidism)
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Male infertility |
MeDIP-Seq
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Show abstract |
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