Gene: NCOA2

Alternate names for this Gene: GRIP1|KAT13C|NCoA-2|SRC2|TIF2|bHLHe75

Gene Summary: The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8q13.3

Description of this Gene: nuclear receptor coactivator 2

Type of Gene: protein-coding

rs10091910 in NCOA2 gene and Alkaline phosphatase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10504474 in NCOA2 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs113654977 in NCOA2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs13260060 in NCOA2 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs16936870 in NCOA2 gene and QT interval feature (observable entity) PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.