HLA-DPB1
major histocompatibility complex, class II, DP beta 1
Summary
HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays 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). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs41540314 | 6:33,043,842 | G/A | — | benign |
| rs41558014 | 6:33,043,865 | C/T | — | benign |
| rs139072161 | 6:33,043,899 | C/T | — | benign |
| rs143352256 | 6:33,043,926 | C/T | — | benign |
| rs1042140 | 6:33,048,640 | A/G | — | risk factor |
| rs9277413 | 6:33,051,720 | G/T | — | — |
| rs2533907834 | 6:33,052,791 | C/A | — | likely benign |
| rs41559424 | 6:33,052,998 | C/T | — | likely benign |
| rs9277471 | 6:33,053,682 | G/A | intron variant | — |
| rs9277511 | 6:33,054,215 | A/T | — | — |
| rs9277514 | 6:33,054,235 | T/G | intron variant | — |
| rs1042448 | 6:33,054,342 | T/C | — | — |
| rs3749985 | 6:33,054,433 | G/C | 3 prime UTR variant | — |
| rs9277534 | 6:33,054,807 | A/C | — | — |
| rs9277535 | 6:33,054,861 | A/G | downstream gene variant | — |
| rs72500564 | 6:33,055,197 | C/T | — | — |
| rs9277542 | 6:33,055,247 | T/C | downstream gene variant | — |
| rs9501257 | 6:33,055,355 | A/T | — | — |
| rs9277552 | 6:33,055,501 | C/T | downstream gene variant | — |
| rs9277554 | 6:33,055,538 | C/T | downstream gene variant | — |
| rs9277555 | 6:33,055,605 | G/A | downstream gene variant | — |
| rs3128965 | 6:33,055,899 | G/A | downstream gene variant | — |
| rs3128968 | 6:33,056,253 | T/A | downstream gene variant | — |
| rs9277562 | 6:33,056,762 | C/T | — | — |
| rs3128970 | 6:33,057,232 | T/A | — | — |
| rs3117225 | 6:33,057,711 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.