SPPL2C

Chr 17

signal peptide peptidase like 2C

Also known as: IMP5

NCBI Gene: 162540 ENSG00000185294 UniProt: Q8IUH8 OMIM: 608284

SPPL2C encodes a sperm-specific intramembrane-cleaving aspartic protease that cleaves tail-anchored proteins and SNARE proteins, modulating intracellular calcium homeostasis and supporting vesicular trafficking during spermatogenesis and acrosome formation. The gene is not well-constrained against loss-of-function variants and no established human disease associations have been reported in the pediatric neurogenetics literature. Given its sperm-specific expression and function, mutations would most likely manifest as male infertility rather than pediatric neurological phenotypes.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein homodimerization activity. Predicted to be involved in several processes, including acrosome assembly; fusion of sperm to egg plasma membrane involved in single fertilization; and membrane protein intracellular domain proteolysis. Located in cytoplasmic side of endoplasmic reticulum membrane and lumenal side of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.03

LOEUF

Multiple*

Mechanism· predicted