SPATA46

Chr 1

spermatogenesis associated 46

Also known as: C1orf111, HSD20, TEKT2BP2

NCBI Gene: 284680 ENSG00000171722 UniProt: Q5T0L3 OMIM: 617257

SPATA46 encodes a protein involved in spermiogenesis and fertilization, specifically predicted to function in sperm-egg membrane fusion and to localize to cellular and nuclear membranes. Mutations in this gene cause autosomal recessive male infertility due to defects in sperm function. The gene shows very low constraint against loss-of-function variants, consistent with a phenotype limited to reproductive function.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization and spermatogenesis. Predicted to be active in nuclear membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.89

LOEUF

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Mechanism