1. Gene
  2. HLA-DQB2 - major histocompatibility complex, class II, DQ beta 2 Gene

HLA-DQB2 - major histocompatibility complex, class II, DQ beta 2 Gene

Homo sapiens

Also known as DQB2; HLA-DXB; HLA-DQB1

Gene ID: 3120 | Gene type: protein coding

About HLA-DQB2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,756,098-32,763,532 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 118 orthologues and 13 paralogues. Biased expression in skin (RPKM 22.8), lung (RPKM 10.9) and 4 other tissues.

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]

HLA-DQB2 Products(2)

mRNA Protein Name
NM_001198858.2 NP_001185787.1 HLA class II histocompatibility antigen, DQ beta 2 chain isoform 2 precursor
NM_001300790.2 NP_001287719.1 HLA class II histocompatibility antigen, DQ beta 2 chain isoform 1 precursor

HLA-DQB2 Protein Structure

MHC_II_beta

MHC_II_beta: Class II histocompatibility antigen, beta domain (42 - 112)

C1-set

C1-set: Immunoglobulin C1-set domain (131 - 212)

  • 0
  • 100
  • 200
  • 227 a.a.
Protein Preferred Names Protein Names

HLA class II histocompatibility antigen, DQ beta 2 chain

DV19.1 (major histocompatibility complex, class II, DQ beta 2 (HLA-DXB))

Related Diseases

Diseases Alias
Kawasaki Disease

Mucocutaneous Lymph Node Syndrome

Acute Febrile Mucocutaneous Lymph Node Syndrome

Kawasaki Syndrome

Kd

Infantile Polyarteritis

Kawasaki Disease, Susceptibility To

Acute Febrile Mcls

Kawasaki'S Disease

Mlns

KWD

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus HLA-DQB2 MGD MGI:103070