Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
Home A service of the U.S. National Library of Medicine®
Printer-friendly version


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.

Read more about gene names and symbols on the About page.

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? 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.

Genetics Home Reference provides additional information about these conditions associated with changes in the HLA-DPB1 gene:

Where is the HLA-DPB1 gene located?

Cytogenetic Location: 6p21.3

Molecular Location on chromosome 6: base pairs 33,075,926 to 33,089,696

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

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 33,075,926 to base pair 33,089,696 on chromosome 6.

See How do geneticists indicate the location of a gene? 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
  • 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-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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

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.

See also Understanding Medical Terminology.

References (6 links)


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? in the Handbook.

Reviewed: July 2013
Published: February 1, 2016