SPAG8

Chr 9

sperm associated antigen 8

Also known as: BS-84, CILD28, CT142, HSD-1, SMP1, SPAG3, hSMP-1

NCBI Gene: 26206 ENSG00000137098 UniProt: Q99932

This gene encodes a microtubule inner protein that is essential for motile cilia beating and plays critical roles in spermatogenesis, including enhancing CREM-mediated gene transcription, regulating cell cycle progression through G2/M phase, and facilitating sperm-zona pellucida binding. Mutations in SPAG8 cause primary ciliary dyskinesia with male infertility, inherited in an autosomal recessive pattern. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)