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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
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
OMIM 603199

KEGG pathways

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Pathway idPathway name
hsa05165Human papillomavirus infection
hsa04530Tight junction
hsa04390Hippo signaling pathway
Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract