GGNBP2

Chr 17

gametogenetin binding protein 2

Also known as: DIF-3, DIF3, LCRG1, LZK1, ZFP403, ZNF403

NCBI Gene: 79893 ENSG00000278311 UniProt: Q9H3C7 OMIM: 612275

The protein is predicted to be involved in spermatogenesis and may regulate cell proliferation and blood vessel development. GGNBP2 is extremely intolerant to loss-of-function variants (pLI ~1.0, LOEUF 0.073), but no established human disease associations have been reported to date.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in spermatogenesis. Predicted to act upstream of or within several processes, including labyrinthine layer blood vessel development; negative regulation of cell population proliferation; and negative regulation of peptidyl-tyrosine phosphorylation. Predicted to be located in cytoplasmic vesicle. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2025]

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)

—

P/LP submissions

—

P/LP missense

0.07

LOEUF· LoF intol.

LOF

Mechanism· predicted