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Genetics Home Reference: your guide to understanding genetic conditions
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HLA-DPB1

Reviewed July 2013

What is the official name of the HLA-DPB1 gene?

The official name of this gene is “major histocompatibility complex, class II, DP beta 1.”

HLA-DPB1 is the gene's official symbol. The HLA-DPB1 gene is also known by other names, listed below.

What is the normal function of the HLA-DPB1 gene?

The HLA-DPB1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DPB1 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-DPB1 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-DPB1 gene attaches (binds) to the protein produced from another MHC class II gene, HLA-DPA1. Together, they form a functional protein complex called an antigen-binding DPαβ 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-DPB1 gene, each of which is given a particular number (such as HLA-DPB1*03:01).

Does the HLA-DPB1 gene share characteristics with other genes?

The HLA-DPB1 gene belongs to a family of genes called HLA (histocompatibility complex genes). It also belongs to a family of genes called immunoglobulin superfamily, C1-set domain containing (immunoglobulin superfamily, C1-set domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the HLA-DPB1 gene related to health conditions?

granulomatosis with polyangiitis - associated with the HLA-DPB1 gene

At least one variant of the HLA-DPB1 gene has been associated with granulomatosis with polyangiitis (GPA). This condition occurs when the immune system malfunctions and attacks the body's own tissues and organs (autoimmunity), causing inflammation that affects the lungs, airways, and kidneys. The associated variant, called HLA-DPB1*0401, has been found more frequently in people with GPA than in those who do not have the condition; this variant is thought to increase the risk of developing GPA.

Because the HLA-DPB1 gene is involved in the immune system, changes in it might be related to the autoimmune response and inflammation that damage the lungs, kidneys, and other organs. However, it is unclear what specific role the HLA-DPB1 gene variant plays in development of this condition. It is likely that environmental factors trigger the condition in people who are genetically predisposed to it. Other genetic factors are also likely to be involved in GPA.

other disorders - increased risk from variations of the HLA-DPB1 gene

Variants of the HLA-DPB1 gene are associated with immune reactions to beryllium, a metallic element that can be toxic. Beryllium exposure can occur in manufacturing plants and the nuclear and aerospace industries. About 2 to 10 percent of people exposed to beryllium develop beryllium sensitization or chronic beryllium disease. Sensitization is an immune reaction that occurs in response to beryllium exposure; sensitization can cause an increase in the number of certain immune system cells in the blood, but it may not lead to any symptoms. In some people, sensitization leads to chronic beryllium disease, which is a lung disease characterized by the formation of small masses of inflammatory cells (granulomas). The lungs can become scarred and stiff and lose their ability to function. Having variants of the HLA-DPB1 gene that contain the protein building block (amino acid) glutamic acid at position 69 (written as E69) increases the risk of developing beryllium sensitization or chronic beryllium disease.

Where is the HLA-DPB1 gene located?

Cytogenetic Location: 6p21.3

Molecular Location on chromosome 6: base pairs 33,075,925 to 33,089,695

The HLA-DPB1 gene is located on the short (p) arm of chromosome 6 at position 21.3.

The HLA-DPB1 gene is located on the short (p) arm of chromosome 6 at position 21.3.

More precisely, the HLA-DPB1 gene is located from base pair 33,075,925 to base pair 33,089,695 on chromosome 6.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about HLA-DPB1?

You and your healthcare professional may find the following resources about HLA-DPB1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the HLA-DPB1 gene or gene products?

  • beta1 domain MHC class II HLA DPB
  • class II HLA beta chain
  • DPB1
  • DPB1_HUMAN
  • HLA class II histocompatibility antigen, DP beta 1 chain
  • HLA class II histocompatibility antigen, DP(W4) beta chain
  • HLA-DP
  • HLA-DP1B
  • HLA DP14-beta chain
  • HLA-DPB
  • HLA-DP histocompatibility type, beta-1 subunit
  • major histocompatibility complex class II antigen beta chain
  • MHC class II antigen beta chain
  • MHC class II antigen DPB1
  • MHC class II antigen DPbeta1
  • MHC class II antigen DP beta 1 chain
  • MHC class II HLA-DP-beta-1
  • MHC class II HLA-DRB1
  • MHC HLA DPB1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding HLA-DPB1?

amino acid ; arthritis ; autoimmune ; autoimmunity ; bacteria ; cell ; chronic ; class ; domain ; gene ; glutamic acid ; HLA ; idiopathic ; immune response ; immune system ; inflammation ; juvenile ; leukocyte ; MHC ; protein ; subunit ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Heckmann M, Holle JU, Arning L, Knaup S, Hellmich B, Nothnagel M, Jagiello P, Gross WL, Epplen JT, Wieczorek S. The Wegener's granulomatosis quantitative trait locus on chromosome 6p21.3 as characterised by tagSNP genotyping. Ann Rheum Dis. 2008 Jul;67(7):972-9. Epub 2007 Oct 29. (http://www.ncbi.nlm.nih.gov/pubmed/17967832?dopt=Abstract)
  • Jagiello P, Gencik M, Arning L, Wieczorek S, Kunstmann E, Csernok E, Gross WL, Epplen JT. New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes. Hum Genet. 2004 Apr;114(5):468-77. Epub 2004 Feb 14. (http://www.ncbi.nlm.nih.gov/pubmed/14968360?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3115)
  • OMIM: MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1 (http://omim.org/entry/142858)
  • Silveira LJ, McCanlies EC, Fingerlin TE, Van Dyke MV, Mroz MM, Strand M, Fontenot AP, Bowerman N, Dabelea DM, Schuler CR, Weston A, Maier LA. Chronic beryllium disease, HLA-DPB1, and the DP peptide binding groove. J Immunol. 2012 Oct 15;189(8):4014-23. doi: 10.4049/jimmunol.1200798. Epub 2012 Sep 12. (http://www.ncbi.nlm.nih.gov/pubmed/22972925?dopt=Abstract)
  • Xie G, Roshandel D, Sherva R, Monach PA, Lu EY, Kung T, Carrington K, Zhang SS, Pulit SL, Ripke S, Carette S, Dellaripa PF, Edberg JC, Hoffman GS, Khalidi N, Langford CA, Mahr AD, St Clair EW, Seo P, Specks U, Spiera RF, Stone JH, Ytterberg SR, Raychaudhuri S, de Bakker PI, Farrer LA, Amos CI, Merkel PA, Siminovitch KA. Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. Arthritis Rheum. 2013 Sep;65(9):2457-68. doi: 10.1002/art.38036. (http://www.ncbi.nlm.nih.gov/pubmed/23740775?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2013
Published: July 28, 2014