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Aliases for HLA-DQB1 Gene

Aliases for HLA-DQB1 Gene

  • Major Histocompatibility Complex, Class II, DQ Beta 1 2 3 5
  • MHC Class II Antigen DQB1 3 4
  • HLA-DQB 3 4
  • MHC Class II HLA-DQ Beta Glycoprotein 3
  • MHC Class II Antigen HLA-DQ-Beta-1 3
  • MHC Class II DQ Beta Chain 3
  • Lymphocyte Antigen 3
  • MHC Class2 Antigen 3
  • MHC DQ Beta 3
  • CELIAC1 3
  • IDDM1 3

External Ids for HLA-DQB1 Gene

Previous HGNC Symbols for HLA-DQB1 Gene

  • HLA-DQB

Previous GeneCards Identifiers for HLA-DQB1 Gene

  • GC06U990046
  • GC06M032623
  • GC06M032398
  • GC06M032675
  • GC06M032678
  • GC06M032727
  • GC06M032735

Summaries for HLA-DQB1 Gene

Entrez Gene Summary for HLA-DQB1 Gene

  • HLA-DQB1 belongs to the HLA class II beta chain paralogs. 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). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

GeneCards Summary for HLA-DQB1 Gene

HLA-DQB1 (Major Histocompatibility Complex, Class II, DQ Beta 1) is a Protein Coding gene. Diseases associated with HLA-DQB1 include Celiac Disease and Multiple Sclerosis, Disease Progression, Modifier Of. Among its related pathways are CTLA4 Signaling and HTLV-I infection. GO annotations related to this gene include peptide antigen binding and MHC class II receptor activity. An important paralog of this gene is HLA-DMA.

UniProtKB/Swiss-Prot for HLA-DQB1 Gene

  • Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.

Gene Wiki entry for HLA-DQB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DQB1 Gene

Genomics for HLA-DQB1 Gene

Regulatory Elements for HLA-DQB1 Gene

Enhancers for HLA-DQB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HLA-DQB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HLA-DQB1 Gene

Chromosome:
6
Start:
32,659,464 bp from pter
End:
32,668,383 bp from pter
Size:
8,920 bases
Orientation:
Minus strand

Genomic View for HLA-DQB1 Gene

Genes around HLA-DQB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-DQB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-DQB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for HLA-DQB1 Gene

  • Protein details for HLA-DQB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01920-DQB1_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DQ beta 1 chain
    Protein Accession:
    P01920
    Secondary Accessions:
    • A1KR27
    • A2RPH3
    • A4Q9R4
    • A4USG2
    • A4USG5
    • A6N8I7
    • A9YQA0
    • B0S7Y7
    • B1A0K6
    • B1GXI3
    • B3VLT3
    • B5BLN7
    • B7VU69
    • C0MQ34
    • C0MQ35
    • C8ZL52
    • C8ZLJ8
    • C8ZLJ9
    • C9DRQ3
    • O19708
    • O19713
    • O19724
    • O62861
    • O78046
    • O78221
    • O78223
    • O98034
    • O98201
    • P01917
    • P01918
    • P01919
    • P03992
    • P05537
    • P79482
    • P79526
    • P79544
    • P79551
    • Q08GC8
    • Q09035
    • Q0E4V9
    • Q1M312
    • Q29731
    • Q29877
    • Q29884
    • Q29915
    • Q29966
    • Q2P9N3
    • Q2QK85
    • Q30061
    • Q30075
    • Q30076
    • Q30080
    • Q30081
    • Q30082
    • Q30083
    • Q30084
    • Q30089
    • Q30095
    • Q31633
    • Q38I47
    • Q45UE3
    • Q4QZB5
    • Q53I44
    • Q564J6
    • Q5G841
    • Q5ISH1
    • Q5ISH3
    • Q5W1E1
    • Q5Y7G8
    • Q643R4
    • Q6B9X1
    • Q70VH8
    • Q7YP69
    • Q8HWH0
    • Q8MH58
    • Q8SNB4
    • Q8SND1
    • Q8SP70
    • Q8WMA3
    • Q9BD17
    • Q9MYH2
    • Q9TPA9
    • Q9XRY6
    • Q9XRY7
    • Q9XRZ2

    Protein attributes for HLA-DQB1 Gene

    Size:
    261 amino acids
    Molecular mass:
    29991 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of antigenic peptides.
    SequenceCaution:
    • Sequence=AAC64403.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAJ57391.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HLA-DQB1 Gene

neXtProt entry for HLA-DQB1 Gene

Proteomics data for HLA-DQB1 Gene at MOPED

Post-translational modifications for HLA-DQB1 Gene

  • Glycosylation at Asn 51
  • Modification sites at PhosphoSitePlus

Other Protein References for HLA-DQB1 Gene

Antibody Products

No data available for DME Specific Peptides for HLA-DQB1 Gene

Domains & Families for HLA-DQB1 Gene

Graphical View of Domain Structure for InterPro Entry

P01920

UniProtKB/Swiss-Prot:

DQB1_HUMAN :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the MHC class II family.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Family:
  • Belongs to the MHC class II family.
genes like me logo Genes that share domains with HLA-DQB1: view

Function for HLA-DQB1 Gene

Molecular function for HLA-DQB1 Gene

GENATLAS Biochemistry:
HLA-DQ,beta chain
UniProtKB/Swiss-Prot Function:
Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.
genes like me logo Genes that share phenotypes with HLA-DQB1: view

Human Phenotype Ontology for HLA-DQB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HLA-DQB1 Gene

MGI Knock Outs for HLA-DQB1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for HLA-DQB1 Gene

Localization for HLA-DQB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DQB1 Gene

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HLA-DQB1 Gene COMPARTMENTS Subcellular localization image for HLA-DQB1 gene
Compartment Confidence
plasma membrane 4
nucleus 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HLA-DQB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010008 endosome membrane IEA --
GO:0012507 ER to Golgi transport vesicle membrane TAS --
GO:0032588 trans-Golgi network membrane TAS --
GO:0042613 MHC class II protein complex IEA,ISS 20356827
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with HLA-DQB1: view

Pathways & Interactions for HLA-DQB1 Gene

genes like me logo Genes that share pathways with HLA-DQB1: view

Gene Ontology (GO) - Biological Process for HLA-DQB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002381 immunoglobulin production involved in immunoglobulin mediated immune response IDA 17050030
GO:0019882 antigen processing and presentation IEA --
genes like me logo Genes that share ontologies with HLA-DQB1: view

No data available for SIGNOR curated interactions for HLA-DQB1 Gene

Drugs & Compounds for HLA-DQB1 Gene

(12) Drugs for HLA-DQB1 Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Insulin, porcine Approved Pharma Target 0
Acetaminophen Approved Pharma 902
Allopurinol Approved Pharma 132
Amoxicillin Approved Pharma 406
Clavulanate Approved Pharma 0

(7) Additional Compounds for HLA-DQB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HLA-DQB1: view

Transcripts for HLA-DQB1 Gene

Unigene Clusters for HLA-DQB1 Gene

Major histocompatibility complex, class II, DQ beta 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-DQB1 Gene

No ASD Table

Relevant External Links for HLA-DQB1 Gene

GeneLoc Exon Structure for
HLA-DQB1
ECgene alternative splicing isoforms for
HLA-DQB1

Expression for HLA-DQB1 Gene

mRNA expression in normal human tissues for HLA-DQB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HLA-DQB1 Gene

This gene is overexpressed in Whole Blood (x5.6), Spleen (x4.5), and Lung (x4.2).

Protein differential expression in normal tissues from HIPED for HLA-DQB1 Gene

This gene is overexpressed in Nasal epithelium (38.3), Peripheral blood mononuclear cells (8.3), and Skin (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HLA-DQB1 Gene



SOURCE GeneReport for Unigene cluster for HLA-DQB1 Gene Hs.409934

genes like me logo Genes that share expression patterns with HLA-DQB1: view

Protein tissue co-expression partners for HLA-DQB1 Gene

- Elite partner

No data available for mRNA Expression by UniProt/SwissProt for HLA-DQB1 Gene

Orthologs for HLA-DQB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HLA-DQB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BLA-DQB 35
  • 86.3 (n)
  • 83.33 (a)
-- 36
  • 91 (a)
ManyToMany
BOLA-DIB 36
  • 63 (a)
ManyToMany
BOLA-DQB 36
  • 78 (a)
ManyToMany
BOLA-DQB 36
  • 82 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia DLA-DQB1 35
  • 85.25 (n)
  • 79.55 (a)
DLA-DQBC1 36
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia H2-Ab1 35
  • 79.52 (n)
  • 75.19 (a)
H2-Ab1 16
H2-Ab1 36
  • 75 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LOC100616520 35
  • 94.83 (n)
  • 91.09 (a)
PATR-DQB1 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RT1-Bb 35
  • 83.26 (n)
  • 81.01 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hla-drb1 35
  • 60.81 (n)
  • 54.95 (a)
Species with no ortholog for HLA-DQB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HLA-DQB1 Gene

ENSEMBL:
Gene Tree for HLA-DQB1 (if available)
TreeFam:
Gene Tree for HLA-DQB1 (if available)

Paralogs for HLA-DQB1 Gene

(220) SIMAP similar genes for HLA-DQB1 Gene using alignment to 830 proteins:

genes like me logo Genes that share paralogs with HLA-DQB1: view

Variants for HLA-DQB1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-DQB1 Gene

DQB1_HUMAN-P01920
DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to narcolepsy. DQB1*06:02 has been found to be present in most of the narcolepsy patients. As well 98% of the patients with an HCRT deficiency are positive for DQB1*06:02.
DQB1_HUMAN-P01920
DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02).
DQB1_HUMAN-P01920
The following alleles of HLA-DQB1 are known: DQB1*02:01, DQB1*02:02, DQB1*02:03, DQB1*02:04, DQB1*02:05, DQB1*03:01, DQB1*03:02, DQB1*03:03, DQB1*03:04, DQB1*03:05, DQB1*03:06, DQB1*03:07, DQB1*03:08, DQB1*03:09, DQB1*03:10, DQB1*03:11, DQB1*03:12, DQB1*03:13, DQB1*03:14, DQB1*03:15, DQB1*03:16, DQB1*03:17, DQB1*03:18, DQB1*03:19, DQB1*03:20, DQB1*03:21, DQB1*03:22, DQB1*03:23, DQB1*03:24, DQB1*03:25, DQB1*03:26, DQB1*04:01, DQB1*04:02, DQB1*04:03, DQB1*05:01, DQB1*05:02, DQB1*05:03, DQB1*05:04, DQB1*05:05, DQB1*06:01, DQB1*06:02, DQB1*06:03, DQB1*06:04, DQB1*06:05, DQB1*06:06, DQB1*06:07, DQB1*06:08, DQB1*06:09, DQB1*06:10, DQB1*06:11, DQB1*06:12, DQB1*06:13, DQB1*06:14, DQB1*06:15, DQB1*06:16, DQB1*06:17, DQB1*06:18, DQB1*06:19, DQB1*06:20, DQB1*06:21, DQB1*06:22, DQB1*06:23, DQB1*06:24, DQB1*06:25, DQB1*06:27, DQB1*06:28, DQB1*06:29, DQB1*06:30, DQB1*06:31, DQB1*06:32, DQB1*06:33, DQB1*06:34, DQB1*06:35, DQB1*06:36, DQB1*06:37, DQB1*06:38, and DQB1*06:39. The sequence shown is that of DQB1*03:01.

Sequence variations from dbSNP and Humsavar for HLA-DQB1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1049056 - 32,666,592(-) AGAAG(G/T)CTTTG reference, missense
rs1049100 - 32,662,186(-) TGCTG(A/G)TCTGC reference, missense
rs9273952 - 32,662,046(+) GTCAT(G/T)TCCAG reference, missense
rs9273948 - 32,662,038(+) GCTGG(A/G)GAGTC reference, missense
rs1130375 - 32,665,043(-) TAAGG(C/G/T)CATGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HLA-DQB1 Gene

Variant ID Type Subtype PubMed ID
dgv1931e1 CNV Complex 17122850
nsv428142 CNV Gain+Loss 18775914
esv21985 CNV Gain+Loss 19812545
esv33476 CNV Gain+Loss 17666407
nsv7883 CNV Gain+Loss 18304495
nsv511120 CNV Complex 20534489
dgv1013n67 CNV Loss 20364138
esv2459937 CNV Loss 19546169
esv2731847 CNV Deletion 23290073
dgv1935e1 CNV Complex 17122850
nsv462881 CNV Loss 19166990
nsv885508 CNV Loss 21882294
dgv750n27 CNV Loss 19166990
nsv830632 CNV Loss 17160897
dgv6772n71 CNV Loss 21882294
esv2676495 CNV Deletion 23128226
dgv6773n71 CNV Loss 21882294
dgv6775n71 CNV Gain 21882294
dgv6776n71 CNV Loss 21882294
dgv6777n71 CNV Loss 21882294
esv1003385 CNV Gain 20482838
dgv6782n71 CNV Loss 21882294
dgv1046e201 CNV Deletion 23290073
nsv525222 CNV Loss 19592680
esv2676540 CNV Deletion 23128226
dgv1033n67 CNV Loss 20364138
dgv1034n67 CNV Loss 20364138
esv32765 CNV Gain 17666407
dgv6785n71 CNV Loss 21882294
dgv6789n71 CNV Loss 21882294
dgv6794n71 CNV Gain+Loss 21882294
esv2421710 CNV Deletion 20811451
dgv6795n71 CNV Loss 21882294
nsv885619 CNV Gain 21882294
dgv6797n71 CNV Loss 21882294
dgv6798n71 CNV Loss 21882294
nsv819903 CNV Gain 19587683
nsv885622 CNV Loss 21882294
nsv511873 CNV Loss 21212237
nsv885630 CNV Gain 21882294
nsv885631 CNV Loss 21882294
dgv1111e199 CNV Deletion 23128226
dgv1112e199 CNV Deletion 23128226
nsv885632 CNV Gain 21882294
nsv885633 CNV Gain 21882294
nsv885634 CNV Gain+Loss 21882294
nsv885635 CNV Gain 21882294
dgv6799n71 CNV Gain 21882294
nsv511351 CNV Loss 21212237
dgv1113e199 CNV Deletion 23128226
esv2675542 CNV Deletion 23128226
esv6650 CNV Loss 19470904
dgv6800n71 CNV Gain 21882294
dgv6801n71 CNV Loss 21882294
dgv6802n71 CNV Loss 21882294
dgv1038n67 CNV Loss 20364138

Variation tolerance for HLA-DQB1 Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 33.37; 99.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLA-DQB1 Gene

Human Gene Mutation Database (HGMD)
HLA-DQB1

Disorders for HLA-DQB1 Gene

MalaCards: The human disease database

(79) MalaCards diseases for HLA-DQB1 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
celiac disease
  • celiac sprue
multiple sclerosis, disease progression, modifier of
  • multiple sclerosis 1
creutzfeldt-jakob disease
  • creutzfeldt-jakob disease, variant
narcolepsy
  • narcolepsy, without cataplexy
bullous pemphigoid
  • benign pemphigus
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HLA-DQB1

Genetic Association Database (GAD)
HLA-DQB1
Human Genome Epidemiology (HuGE) Navigator
HLA-DQB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLA-DQB1
genes like me logo Genes that share disorders with HLA-DQB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HLA-DQB1 Gene

Publications for HLA-DQB1 Gene

  1. Genetic association of HLA DQB1 with CD4+CD25+(high) T-cell apoptosis in type 1 diabetes. (PMID: 19295543) Glisic S. … Ghosh S. (Genes Immun. 2009) 3 23 48 67
  2. Confirmation of HLA class II independent type 1 diabetes associations in the major histocompatibility complex including HLA-B and HLA-A. (PMID: 19143813) Howson J.M. … Todd J.A. (Diabetes Obes Metab 2009) 3 23
  3. Are HLA DQB1 alleles correlated with breast cancer histopronostic parameters in Tunisia? (PMID: 19927780) Baccar A. … Ben Ammar Elgaaied A. (Tunis Med 2009) 3 23
  4. Association of HLA-DR and -DQ Genes with Familial Moyamoya Disease in Koreans. (PMID: 20062572) Hong S.H. … Park M.H. (J Korean Neurosurg Soc 2009) 3 23
  5. The MHC type 1 diabetes susceptibility gene is centromeric to HLA-DQB1. (PMID: 18065200) Husain Z. … Alper C.A. (J. Autoimmun. 2008) 3 23

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Sources for HLA-DQB1 Gene

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