UACA (Entrez ID: 55075)

Entrez Gene ID 55075
Official Gene Symbol UACA (GeneCards)
Full name uveal autoantigen with coiled-coil domains and ankyrin repeats
Location 15q23
Other ids Vega : OTTHUMG00000133363
MIM : 612516
HGNC : HGNC:15947
Ensembl : ENSG00000137831
Other names NUCLING
Summary This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]

Variants

Found 2 variants in this database.