SPECC1

Chr 17

sperm antigen with calponin homology and coiled-coil domains 1

Also known as: CYTSB, HCMOGT-1, HCMOGT1, NSP, NSP5

NCBI Gene: 92521 ENSG00000128487 UniProt: Q5M775 OMIM: 608793

The SPECC1 protein is a nuclear-localized member of the cytospin-A family that is highly constrained against loss-of-function variants. Mutations cause Opitz G/BBB syndrome, an autosomal dominant disorder characterized by midline developmental defects including hypertelorism, cleft lip/palate, and genitourinary abnormalities. The gene's high constraint (pLI ~0.0009, LOEUF 0.49) reflects its critical role in normal midline development during embryogenesis.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

Mechanism· predicted