BRINP3

BMP/retinoic acid inducible neural specific 3

Summary

This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

Known Variants59 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19358811:190,066,386T/Cdownstream gene variant
rs12468967711:190,067,188G/Tuncertain significance
rs12188561451:190,067,311A/Cuncertain significance
rs7632946301:190,067,411T/Cuncertain significance
rs7643668691:190,067,420G/Auncertain significance
rs1831643651:190,067,458T/Cuncertain significance
rs3721068481:190,067,542T/Clikely benign
rs7635927551:190,067,551A/Tuncertain significance
rs8935053951:190,067,635A/Guncertain significance
rs16514168301:190,067,819A/Cuncertain significance
rs14258079391:190,068,034C/Tuncertain significance
rs10246521091:190,068,059T/Guncertain significance
rs7469919681:190,068,164G/Cuncertain significance
rs25270686681:190,068,179G/Tuncertain significance
rs7596538681:190,068,264T/Guncertain significance
rs13429131:190,121,025G/Aintron variant
rs24884751:190,129,396C/Tintron variant
rs1389601041:190,129,807G/Tuncertain significance
rs7674130591:190,129,820G/Tuncertain significance
rs7568823451:190,129,852A/Tuncertain significance
rs7632331241:190,129,900C/Tuncertain significance
rs7674725961:190,129,902G/Cuncertain significance
rs7785864721:190,129,921C/Tuncertain significance
rs7463793681:190,129,967A/Tuncertain significance
rs7689644141:190,129,998T/Auncertain significance
rs1128292531:190,130,020T/Cuncertain significance
rs354954311:190,134,827A/C
rs8153341:190,136,798G/Aintron variant
rs127441911:190,172,609G/Aintron variant
rs7749928921:190,195,259C/Tuncertain significance
rs7507814901:190,195,287T/Cuncertain significance
rs2008811181:190,195,347T/Cuncertain significance
rs5547308861:190,203,565C/Tuncertain significance
rs1427522301:190,223,335C/A
rs25282301881:190,234,092A/Tuncertain significance
rs7651037741:190,234,101G/Cuncertain significance
rs7553154721:190,250,770C/Tuncertain significance
rs3711510741:190,250,780G/Cuncertain significance
rs25283550071:190,250,782C/Auncertain significance
rs2004534141:190,250,786T/Cuncertain significance
rs7587277951:190,250,855T/Cuncertain significance
rs8151601:190,257,090A/Gintron variant
rs18994441:190,277,483G/Aintron variant
rs30988431:190,277,706A/C
rs9412121:190,285,442T/Cintron variant
rs8151631:190,294,726T/Cintron variant
rs5007641:190,304,839T/A
rs11713811:190,306,342A/Gintron variant
rs121452811:190,306,734A/T
rs4910551:190,308,834A/Gintron variant
rs81795081:190,416,752C/Aintron variant
rs7647250941:190,423,788T/Cuncertain significance
rs7643964001:190,423,804T/Cuncertain significance
rs2001597681:190,423,818C/Auncertain significance
rs12332953691:190,423,828C/Tuncertain significance
rs3706477291:190,423,924C/Guncertain significance
rs576949321:190,439,312A/T
rs104946341:190,439,468A/Tintron variant
rs127323611:190,446,806G/Cupstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.