SPATA16

spermatogenesis associated 16

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000144962
UniProt:: Q9BXB7
OMIM:: 609856
Synonyms:: NYD-SP12

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.10) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: increased eosinophil cell number; increased basophil cell number

Ciliopathy associations

Male Infertility

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:37895049

Functional category

Cilia–cytoskeleton/adhesion links

Function

These findings strongly support the hypothesis that the dysfunction of microtubule-related and spermatogenesis-specific genes contributes to idiopathic male infertility. The SPATA16, CFTR, KIF6, STPG2, and DRC7 mutations are associated with male infertility, specifically azoospermia, and a further examination of this genetic function is required(PMID: 37895049).

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