major histocompatibility complex, class II, DQ beta 1
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The HLA-DQB1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DQB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.
Normal function
The HLA-DQB1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DQB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.
The HLA complex is the human version of the major histocompatibility complex (MHC), a gene family that occurs in many species. The HLA-DQB1 gene belongs to a group of MHC genes called MHC class II. MHC class II genes provide instructions for making proteins that are present on the surface of certain immune system cells. These proteins attach to protein fragments (peptides) outside the cell. MHC class II proteins display these peptides to the immune system. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it triggers a response to attack the invading viruses or bacteria.
The protein produced from the HLA-DQB1 gene attaches (binds) to the protein produced from another MHC class II gene, HLA-DQA1. Together, they form a functional protein complex called an antigen-binding DQαβ heterodimer. This complex displays foreign peptides to the immune system to trigger the body's immune response.
Each MHC class II gene has many possible variations, allowing the immune system to react to a wide range of foreign invaders. Researchers have identified hundreds of different versions (alleles) of the HLA-DQB1 gene, each of which is given a particular number (such as HLA-DQB1*06:02).
Conditions referring to this gene or chromosome
Other names
CELIAC1
DQB1_HUMAN
HLA class II histocompatibility antigen, DQ beta 1 chain
HLA-DQB
IDDM1
major histocompatibility complex class II beta
MHC class II antigen DQB1
MHC class II antigen HLA-DQ-beta-1
MHC class II DQ beta chain
MHC class II HLA-DQ beta glycoprotein
MHC class2 antigen
MHC DQ beta
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Further reading and references
- major histocompatibility complex, class II, DQ beta 1; MedlinePlus, National Library of Medicine.
- Abadie V, Sollid LM, Barreiro LB, Jabri B. Integration of genetic and immunological insights into a model of celiac disease pathogenesis. Annu Rev Immunol. 2011;29:493-525. doi: 10.1146/annurev-immunol-040210-092915.
- Dorman JS, Bunker CH. HLA-DQ locus of the human leukocyte antigen complex and type 1 diabetes mellitus: a HuGE review. Epidemiol Rev. 2000;22(2):218-27. doi: 10.1093/oxfordjournals.epirev.a018034. No abstract available.
- Hong SC, Lin L, Lo B, Jeong JH, Shin YK, Kim SY, Kweon Y, Zhang J, Einen M, Smith A, Hansen J, Grumet FC, Mignot E. DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans. Hum Immunol. 2007 Jan;68(1):59-68. doi: 10.1016/j.humimm.2006.10.006. Epub 2006 Oct 30.
- Jones EY, Fugger L, Strominger JL, Siebold C. MHC class II proteins and disease: a structural perspective. Nat Rev Immunol. 2006 Apr;6(4):271-82. doi: 10.1038/nri1805.
- Mignot E, Lin L, Rogers W, Honda Y, Qiu X, Lin X, Okun M, Hohjoh H, Miki T, Hsu S, Leffell M, Grumet F, Fernandez-Vina M, Honda M, Risch N. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet. 2001 Mar;68(3):686-99. doi: 10.1086/318799. Epub 2001 Feb 13.
- Noble JA, Valdes AM. Genetics of the HLA region in the prediction of type 1 diabetes. Curr Diab Rep. 2011 Dec;11(6):533-42. doi: 10.1007/s11892-011-0223-x.
- Sollid LM, Lie BA. Celiac disease genetics: current concepts and practical applications. Clin Gastroenterol Hepatol. 2005 Sep;3(9):843-51. doi: 10.1016/s1542-3565(05)00532-x.
- Svejgaard A. The immunogenetics of multiple sclerosis. Immunogenetics. 2008 Jun;60(6):275-86. doi: 10.1007/s00251-008-0295-1. Epub 2008 May 7.
- Taylor AK, Lebwohl B, Snyder CL, Green PHR. Celiac Disease. 2008 Jul 3 [updated 2025 Dec 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1727/
- Tjon JM, van Bergen J, Koning F. Celiac disease: how complicated can it get? Immunogenetics. 2010 Oct;62(10):641-51. doi: 10.1007/s00251-010-0465-9. Epub 2010 Jul 27.
- Tron F, Gilbert D, Mouquet H, Joly P, Drouot L, Makni S, Masmoudi H, Charron D, Zitouni M, Loiseau P, Ben Ayed M. Genetic factors in pemphigus. J Autoimmun. 2005 Jun;24(4):319-28. doi: 10.1016/j.jaut.2005.03.006.
- Uibo R, Tian Z, Gershwin ME. Celiac disease: a model disease for gene-environment interaction. Cell Mol Immunol. 2011 Mar;8(2):93-5. doi: 10.1038/cmi.2010.62. Epub 2011 Feb 14.
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