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HLA-DQB1
 
 
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Major histocompatibility complex, class II, DQ beta 1, also known as HLA-DQB1, is a human gene
Gene

A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cell and pass genetic trait to offspring....
 and also denotes the genetic locus
Locus (genetics)

In the fields of genetics and evolutionary computation, a locus is a fixed position on a chromosome such as the position of a genetic marker that may be occupied by one or more genes....
 which contains this gene. The protein
Protein

Proteins are organic compounds made of amino acids arranged in a linear chain and joined together by peptide bonds between the carboxyl and amino groups of adjacent amino acid Residue ....
 encoded by this gene is one of two proteins that are required to form the DQ heterodimer
HLA-DQ

HLA-DQ is a cell surface receptor type protein found on antigen presenting cells. DQ is an a? heterodimer of the MHC Class II type. The a and ? chains are encoded by HLA-DQA1 and HLA-DQB1, respectively....
, a cell surface receptor
Immune receptor

An immune receptor is a Receptor , usually on a cell membrane, which binds to a substance and causes a response in the immune system....
 essential to the function of the immune system
Immune system

An immune system is a collection of biological processes within an organism that protects against disease by identifying and killing pathogens and tumour cells....
.

DQB1 belongs to the HLA class II
MHC class II

MHC Class II molecules are found only on a few specialized cell types, including macrophages, dendritic cells and B cells, all of which are professional antigen-presenting cells ....
 beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane.






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Encyclopedia


Major histocompatibility complex, class II, DQ beta 1, also known as HLA-DQB1, is a human gene
Gene

A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cell and pass genetic trait to offspring....
 and also denotes the genetic locus
Locus (genetics)

In the fields of genetics and evolutionary computation, a locus is a fixed position on a chromosome such as the position of a genetic marker that may be occupied by one or more genes....
 which contains this gene. The protein
Protein

Proteins are organic compounds made of amino acids arranged in a linear chain and joined together by peptide bonds between the carboxyl and amino groups of adjacent amino acid Residue ....
 encoded by this gene is one of two proteins that are required to form the DQ heterodimer
HLA-DQ

HLA-DQ is a cell surface receptor type protein found on antigen presenting cells. DQ is an a? heterodimer of the MHC Class II type. The a and ? chains are encoded by HLA-DQA1 and HLA-DQB1, respectively....
, a cell surface receptor
Immune receptor

An immune receptor is a Receptor , usually on a cell membrane, which binds to a substance and causes a response in the immune system....
 essential to the function of the immune system
Immune system

An immune system is a collection of biological processes within an organism that protects against disease by identifying and killing pathogens and tumour cells....
.

Function

HLA-DQB1 belongs to the HLA class II
MHC class II

MHC Class II molecules are found only on a few specialized cell types, including macrophages, dendritic cells and B cells, all of which are professional antigen-presenting cells ....
 beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), 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).

Gene structure and polymorphisms

The beta chain is approximately 26-28 kDa and it contains 6 exon
Exon

An exon in a gene is a DNA or RNA sequence that is translated into RNA or protein. In contrast, an intron is a DNA sequence in the gene that is not translated....
s. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular protein domain
Protein domain

A protein domain is a part of protein sequence and tertiary structure that can biological evolution, function, and exist independently of the rest of the protein chain....
s, exon 4 encodes the transmembrane
Transmembrane protein

A transmembrane protein is a protein that spans the entire biological membrane. Transmembrane proteins aggregate and precipitate in water. They require detergents or nonpolar solvents for extraction, although some of them can be also extracted using denaturing agents....
 domain and exon 5 encodes the cytoplasmic
Cytoplasm

The cytoplasm is the part of a Cell that is enclosed within the plasma membrane. In eukaryote cells the cytoplasm contains organelles, such as mitochondrion, that are filled with liquid kept separate from the rest of the cytoplasm by biological membranes....
 tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphism
Polymorphism (biology)

Polymorphism in biology occurs when two or more clearly different phenotypes exist in the same population of a species ? in other words, the occurrence of more than one form or morph....
s specifying the peptide binding specificities, resulting in up to 4 different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation.

Disease association


Diabetes

Several allele
Allele

An allele is one member of a pair or series of different forms of a gene. Usually alleles are coding region, but sometimes the term is used to refer to a junk DNA....
s of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes
Diabetes mellitus type 1

Diabetes mellitus type 1 is a form of diabetes mellitus. Type 1 diabetes is an autoimmune disease that results in destruction of insulin-producing beta cells of the pancreas....
. The locus also has the genetic name IDDM1 as it is the highest genetic risk for type 1 diabetes. Again the DQB1*0201 and DQB1*0302 alleles, particularly the phenotype DQB1*0201/*0302 has a high risk of late onset type 1 diabetes. The risk is partially shared with the HLA-DR locus (DR3 and DR4 serotypes).

Coeliac disease

Celiac1 is a genetic name for DQB1, the HLA DQB1*0201, *0202, and *0302 encode genes that mediate the autoimmune
Autoimmune disease

Autoimmune diseases arise from an overactive immune response of the body against substances and tissues normally present in the body. In other words, the body attacks its own cells....
 coeliac disease
Coeliac disease

C?liac disease , also spelled celiac disease, is an Autoimmunity disorder of the small intestine that occurs in Genetic predisposition people of all ages from middle infancy on up....
. Homozygotes of DQB1*0201 have a higher risk of developing the coeliac disease, relative to any other genetic locus.

Multiple sclerosis

Certain HLA-DQB1 alleles are also linked to a modest increased risk of multiple sclerosis
Multiple sclerosis

Multiple sclerosis is an autoimmune disease in which the immune system attacks the central nervous system, leading to demyelinating disease. Disease onset usually occurs in young adults, and it is more common in females....
.

Narcolepsy

Other HLA-DQB1 alleles are associated with a predisposition to narcolepsy
Narcolepsy

Narcolepsy is a chronic sleep disorder characterized by overwhelming daytime drowsiness and sudden attacks of sleep. The condition is most characterized by excessive daytime sleepiness , in which a person experiences extreme tiredness and possibly falls asleep during the day at inappropriate times, such as at work or school....
.

Alleles

DQ5
HLA-DQ5

HLA-DQ4 is a human leukocyte antigen serotype subgroup within HLA-DQ serotypes. The serotype is determined by the antibody recognition of ?5.x subset of DQ ?-chains....
 >DQ6
HLA-DQ6

HLA-DQ6 is a human leukocyte antigen serotype within HLA-DQ  serotype group. The serotype is determined by the antibody recognition of ?6 subset of DQ ?-chains....
 >
 HLA-DQB1 alleles
Serotype DQB1 allele
DQ2
HLA-DQ2

HLA-DQ2 is a serotype group within HLA-DQ serotyping system. The serotype is determined by the antibody recognition of ?2 subset of DQ ?-chains....
 		*0201
HLA-DQ2

HLA-DQ2 is a serotype group within HLA-DQ serotyping system. The serotype is determined by the antibody recognition of ?2 subset of DQ ?-chains....
*0202
HLA-DQ2

HLA-DQ2 is a serotype group within HLA-DQ serotyping system. The serotype is determined by the antibody recognition of ?2 subset of DQ ?-chains....
*0203
HLA-DQ2

HLA-DQ2 is a serotype group within HLA-DQ serotyping system. The serotype is determined by the antibody recognition of ?2 subset of DQ ?-chains....
DQ4
HLA-DQ4

HLA-DQ4 is a serotype subgroup within HLA-DQ serotypes. The serotype is determined by the antibody recognition of ?4 subset of DQ ?-chains....
 		*0401
HLA-DQ4

HLA-DQ4 is a serotype subgroup within HLA-DQ serotypes. The serotype is determined by the antibody recognition of ?4 subset of DQ ?-chains....
*0402
HLA-DQ4

HLA-DQ4 is a serotype subgroup within HLA-DQ serotypes. The serotype is determined by the antibody recognition of ?4 subset of DQ ?-chains....
*0501
HLA-DQ5

HLA-DQ4 is a human leukocyte antigen serotype subgroup within HLA-DQ serotypes. The serotype is determined by the antibody recognition of ?5.x subset of DQ ?-chains....
*0502
HLA-DQ5

HLA-DQ4 is a human leukocyte antigen serotype subgroup within HLA-DQ serotypes. The serotype is determined by the antibody recognition of ?5.x subset of DQ ?-chains....
*0503
HLA-DQ5

HLA-DQ4 is a human leukocyte antigen serotype subgroup within HLA-DQ serotypes. The serotype is determined by the antibody recognition of ?5.x subset of DQ ?-chains....
*0504
HLA-DQ5

HLA-DQ4 is a human leukocyte antigen serotype subgroup within HLA-DQ serotypes. The serotype is determined by the antibody recognition of ?5.x subset of DQ ?-chains....
*0601
HLA-DQ6

HLA-DQ6 is a human leukocyte antigen serotype within HLA-DQ  serotype group. The serotype is determined by the antibody recognition of ?6 subset of DQ ?-chains....
*0602
HLA-DQ6

HLA-DQ6 is a human leukocyte antigen serotype within HLA-DQ  serotype group. The serotype is determined by the antibody recognition of ?6 subset of DQ ?-chains....
*0603
HLA-DQ6

HLA-DQ6 is a human leukocyte antigen serotype within HLA-DQ  serotype group. The serotype is determined by the antibody recognition of ?6 subset of DQ ?-chains....
*0604
HLA-DQ6

HLA-DQ6 is a human leukocyte antigen serotype within HLA-DQ  serotype group. The serotype is determined by the antibody recognition of ?6 subset of DQ ?-chains....
*0605
HLA-DQ6

HLA-DQ6 is a human leukocyte antigen serotype within HLA-DQ  serotype group. The serotype is determined by the antibody recognition of ?6 subset of DQ ?-chains....
*0609
HLA-DQ6

HLA-DQ6 is a human leukocyte antigen serotype within HLA-DQ  serotype group. The serotype is determined by the antibody recognition of ?6 subset of DQ ?-chains....
DQ7
HLA-DQ7

HLA-DQ7 is an Human leukocyte antigen-HLA-DQ serotype that recognizes the common HLA DRB1*0301 and the less common HLA DRB1*0304 gene products....
 		*0301
HLA-DQ7

HLA-DQ7 is an Human leukocyte antigen-HLA-DQ serotype that recognizes the common HLA DRB1*0301 and the less common HLA DRB1*0304 gene products....
*0304
HLA-DQ7

HLA-DQ7 is an Human leukocyte antigen-HLA-DQ serotype that recognizes the common HLA DRB1*0301 and the less common HLA DRB1*0304 gene products....
DQ8
HLA-DQ8

HLA-DQ8 is a human leukocyte antigen serotype within the HLA-DQ serotype group. DQ8 is a wikt:split antigen of the HLA-DQ3 wikt:broad antigen....
 		*0302
HLA-DQ8

HLA-DQ8 is a human leukocyte antigen serotype within the HLA-DQ serotype group. DQ8 is a wikt:split antigen of the HLA-DQ3 wikt:broad antigen....
*0305
HLA-DQ8

HLA-DQ8 is a human leukocyte antigen serotype within the HLA-DQ serotype group. DQ8 is a wikt:split antigen of the HLA-DQ3 wikt:broad antigen....
DQ9
HLA-DQ9

HLA-DQ9 is a human leukocyte antigen serotype within the HLA-DQ serotype group. DQ8 is a wikt:split antigen of the HLA-DQ3 wikt:broad antigen....
*0303
HLA-DQ9

HLA-DQ9 is a human leukocyte antigen serotype within the HLA-DQ serotype group. DQ8 is a wikt:split antigen of the HLA-DQ3 wikt:broad antigen....


See also

  • Major histocompatibility complex
    Major histocompatibility complex

    The major histocompatibility complex is a large genome region or gene family found in most vertebrates. It is the most gene-dense region of the mammalian genome and plays an important role in the immune system, autoimmunity, and reproduction success....
  • Human leukocyte antigen
    Human leukocyte antigen

    The human leukocyte antigen system is the name of the major histocompatibility complex in humans.The superlocus contains a large number of genes related to immune system function in humans....
  • HLA-DQ
    HLA-DQ

    HLA-DQ is a cell surface receptor type protein found on antigen presenting cells. DQ is an a? heterodimer of the MHC Class II type. The a and ? chains are encoded by HLA-DQA1 and HLA-DQB1, respectively....