ADAD2

adenosine deaminase domain containing 2

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000140955
UniProt:: Q8NCV1
OMIM:: 619532
Synonyms:: FLJ00337, TENRL

Ciliogenesis screen results (1 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: hyperactivity; decreased circulating glucose level; decreased coping response

Ciliopathy associations

Male Infertility

References: PMID:32665638

Subcellular localization

flagella

References: PMID:32665638, PMID:36708028

Function

ADAD1 and ADAD2 are essential regulators of male germ cell differentiation with molecular functions unrelated to A-to-I RNA editing(PMID: 32665638). ADAD1 and ADAD2 variants have role in development and maintenance of normal spermatogenesis and might be related to reductions in sperm count and motility and various sperm morphological abnormalities in human infertility. ADAD1 and ADAD2 were both located in the head and flagella of normal sperm(PMID: 36708028).

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