Gene: BTN2A3P
Alternate names for this Gene: BTN2.3|BTN2A3
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., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) 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]. ##Evidence-Data-START## Transcript exon combination :: AK056871.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2145313 [ECO:0000348] ##Evidence-Data-END##
Gene is located in Chromosome: 6
Location in Chromosome : 6p22.2
Description of this Gene: butyrophilin subfamily 2 member A3, pseudogene
Type of Gene: pseudo
rs4320356 in
BTN2A3P gene and
Diabetes Mellitus, Insulin-Dependent
PMID 31152121 2019 We identified four T1D risk loci reaching genome-wide significance in the Chinese Han population, including two novel loci, rs4320356 near <i>BTN3A1</i> (odds ratio [OR] 1.26, <i>P</i> = 2.70 × 10<sup>-8</sup>) and rs3802604 in <i>GATA3</i> (OR 1.24, <i>P</i> = 2.06 × 10<sup>-8</sup>), and two previously reported loci, rs1770 in MHC (OR 4.28, <i>P</i> = 2.25 × 10<sup>-232</sup>) and rs705699 in <i>SUOX</i> (OR 1.46, <i>P</i> = 7.48 × 10<sup>-20</sup>).