HLA-DQB2 (major histocompatibility complex, class II, DQ beta 2)

2014-11-01  

Identity

HGNC
HLA-DQB2
LOCATION
6p21.32
LOCUSID
3120
ALIAS
DQB2,HLA-DQB1,HLA-DXB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3120
MIM: 615161
HGNC: 4945
Ensembl: ENSG00000232629

Variants:

dbSNP: 3120
ClinVar: 3120
TCGA: ENSG00000232629
COSMIC: HLA-DQB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000232629ENST00000411527P05538
ENSG00000232629ENST00000427449H0Y7Y7
ENSG00000232629ENST00000435145A2ADX3
ENSG00000232629ENST00000437316Q5SR05

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
TCR signalingREACTOMER-HSA-202403
Phosphorylation of CD3 and TCR zeta chainsREACTOMER-HSA-202427
Translocation of ZAP-70 to Immunological synapseREACTOMER-HSA-202430
Generation of second messenger moleculesREACTOMER-HSA-202433
Downstream TCR signalingREACTOMER-HSA-202424
Costimulation by the CD28 familyREACTOMER-HSA-388841
PD-1 signalingREACTOMER-HSA-389948
MHC class II antigen presentationREACTOMER-HSA-2132295
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon gamma signalingREACTOMER-HSA-877300

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
147306002004Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences.23
191805122009HLA-E gene polymorphism associated with susceptibility to Kawasaki disease and formation of coronary artery aneurysms.20
212572902011Differences in self-peptide binding between T1D-related susceptible and protective DR4 subtypes.6
224079132012HLA-DQA2 and HLA-DQB2 genes are specifically expressed in human Langerhans cells and encode a new HLA class II molecule.6
205876102010Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.1
273940032016Association of HLA-DP/DQ and STAT4 polymorphisms with ankylosing spondylitis in Southwest China.1
286133732017Lack of association between human leukocyte antigen polymorphisms rs9277535 and rs7453920 and chronic hepatitis B in a Brazilian population.1
306006062019Association of human leukocyte antigens-DQB2/DPA1/DPB1 polymorphism and pulmonary tuberculosis in the Chinese Uygur population.1

Citation

Dessen P

HLA-DQB2 (major histocompatibility complex, class II, DQ beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64332/hla-dqb2