CLDN2 Chromosome X

Claudin 2
1 variant 1 Health Risk

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What This Gene Does
This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Claudins
Locus Type
gene with protein product
Location
Xq22.3
Ensembl
ENSG00000165376
Associated Conditions (4)
Azoospermia
obstructive
with nephrolithiasis
Male infertility
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1555979575 Health Risk Pathogenic Azoospermia, obstructive, with nephrolithiasis
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