HLA-DQB1 - HLA class II histocompatibility antigen, DQ beta 1 chain - human protein (Medical)
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HLA-DQB1 »  HLA class II histocompatibility antigen, DQ beta 1 chain
Protein also known as:  MHC class II antigen DQB1.
Gene name:  HLA-DQB1
Family name: MHC class II
Entry whose protein(s) existence is based on evidence at protein level
extend overview
4 434 1


 show evidences
According to Orphanet, this protein is involved in the following diseases:
Bullous pemphigoid  703  
Celiac disease  555  
Diabetes mellitus type 1  243377  
Idiopathic achalasia  930  
Multiple sclerosis  802  
Narcolepsy without cataplexy  83465  
Narcolepsy-cataplexy  2073  
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.  
  • UniProtKB
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).  
  • UniProtKB
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.  
  • UniProtKB


Technical term 
Reference proteome  definition   [KW-1185]

Further external links

Organism-specific databases
CTD: 3119
GeneReviews: HLA-DQB1
MalaCards: HLA-DQB1
PharmGKB: PA35068
Polymorphism and mutation databases
BioMuta: HLA-DQB1
DMDM: 290457643
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.