Gene: BTN3A1

Alternate names for this Gene: BT3.1|BTF5|BTN3.1|CD277

Gene Summary: The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010].

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.2

Description of this Gene: butyrophilin subfamily 3 member A1

Type of Gene: protein-coding

rs41266839 in BTN3A1 gene and Carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs75782365 in BTN3A1 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs3799378 in BTN3A1 gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs75782365 in BTN3A1 gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

rs41266839 in BTN3A1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs12200782 in BTN3A1 gene and Small cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.