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HLA-DQB1

Synonyms
CELIAC1, HLA-DQB, IDDM1
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
21
Likely pathogenic
2,671
VUS
208,977
Likely benign
39,553
Benign
0

Patient phenotypes

Proportions of phenotypes among 2682 patients carring pathogenic or likely pathogenic variants on HLA-DQB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41%
Abnormality of the musculoskeletal system
28.3%
Abnormality of head or neck
23%
Abnormality of the eye
21.9%
Abnormality of the cardiovascular system
17.3%
Abnormality of the ear
15%
Growth abnormality
13.6%
Abnormality of the integument
10.4%
Abnormality of limbs
10.1%
Abnormality of the genitourinary system
9.2%
Abnormality of the digestive system
7.9%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of the immune system
5.7%
Abnormality of the respiratory system
3.6%
Abnormality of the endocrine system
3.4%
Abnormality of prenatal development or birth
2.8%
Neoplasm
2.3%
Constitutional symptom
1%
Abnormality of the breast
0.6%
Abnormality of the voice
0.5%
Abnormal cellular phenotype
0.4%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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