HLA-DQB2

major histocompatibility complex, class II, DQ beta 2

Summary

HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010]

Known Variants16 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77699796:32,723,572G/T
rs94618086:32,723,665C/Tdownstream gene variant
rs77565166:32,723,917C/T3 prime UTR variant
rs23012716:32,725,193A/Gintron variant
rs786317086:32,726,148C/Aintron variant
rs92765786:32,726,274A/Gintron variant
rs2001853906:32,726,605A/Cintron variant
rs10491106:32,726,803C/Tmissense variant
rs92765806:32,727,209T/A
rs23952586:32,728,642T/A
rs20061636:32,729,058A/C
rs1157938186:32,729,613T/Clikely benign
rs1408058306:32,729,708G/Abenign
rs20085606:32,729,734C/Gintron variant
rs74539206:32,730,012A/T
rs20515496:32,730,086G/T

Gene information from NCBI Gene. Variant classifications from ClinVar.