Entrez Summary: This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016].
UniProt Summary: Plays a role in mast cell degranulation. {ECO:0000250|UniProtKB:D4A770}.
Pfam DomainsGO Terms
Pfam Domains
DUF2362
GO Terms
regulation of mast cell degranulation
regulation of mast cell activation involved in immune response
regulation of mast cell activation
regulation of leukocyte degranulation
regulation of myeloid leukocyte mediated immunity
regulation of regulated secretory pathway
regulation of leukocyte mediated immunity
positive regulation of immune effector process
regulation of exocytosis
regulation of intracellular transport
regulation of immune effector process
regulation of vesicle-mediated transport
regulation of leukocyte activation
regulation of cell activation
regulation of secretion by cell
regulation of secretion
regulation of cellular localization
regulation of immune response
positive regulation of immune system process
regulation of immune system process
regulation of transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)