Gene: HLA-DPA1

Alternate names for this Gene: DP(W3)|DP(W4)|DPA1|HLA-DP1A|HLA-DPB1|HLADP|HLASB|PLT1

Gene Summary: HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, 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 alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DP alpha 1

Type of Gene: protein-coding

Gene: HLA-DPB1

Alternate names for this Gene: DPB1|HLA-DP|HLA-DP1B|HLA-DPB

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DP beta 1

Type of Gene: protein-coding

rs987870 in HLA-DPA1;HLA-DPB1 gene and Asthma PMID 21814517 2011 SNP rs987870, located between HLA-DPA1 and HLA-DPB1, was consistently associated with pediatric asthma in 3 independent populations (P(combined) = 2.3×10(-10), odds ratio [OR] = 1.40).

rs12722013 in HLA-DPA1;HLA-DPB1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs7750458 in HLA-DPA1;HLA-DPB1 gene and Dermatomyositis PMID 27153935 2016 Variation at HLA-DPB1 is associated with dermatomyositis in Chinese population.

rs1042169 in HLA-DPA1;HLA-DPB1 gene and Hepatitis B PMID 23760081 2013 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.

PMID 24162738 2013 New loci associated with chronic hepatitis B virus infection in Han Chinese.

rs2021408 in HLA-DPA1;HLA-DPB1 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs9501251 in HLA-DPA1;HLA-DPB1 gene and Primary biliary cirrhosis PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.

rs9277359 in HLA-DPA1;HLA-DPB1 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

rs987870 in HLA-DPA1;HLA-DPB1 gene and Systemic Scleroderma PMID 21779181 2011 Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.