Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3119
Gene Summary                KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol HLA-DQB1   Gene   UCSC   Ensembl
Aliases CELIAC1, HLA-DQB, IDDM1
Gene name major histocompatibility complex, class II, DQ beta 1
Alternate names HLA class II histocompatibility antigen, DQ beta 1 chain, MHC class II DQ beta chain, MHC class II HLA-DQ beta glycoprotein, MHC class II antigen DQB1, MHC class II antigen HLA-DQ-beta-1,
Gene location 6p21.32 (32666688: 32659463)     Exons: 6     NC_000006.12
Gene summary(Entrez) 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]
OMIM 604305

Diseases

Associated diseases References
Endometriosis INFBASE: 12721173

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12721173 Endometrio
sis

305 (83 patient
s diagnosed wit
h endometriosis
, 222 controls)

Show abstract