HLA-B (major histocompatibility complex, class I, B)

2007-02-01

Identity

HGNC

HLA-B

LOCATION

6p21.33

LOCUSID

3106

ALIAS

AS,B-4901,HLAB

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3106
MIM: 142830
HGNC: 4932
Ensembl: ENSG00000234745

Variants:

dbSNP: 3106
ClinVar: 3106
TCGA: ENSG00000234745
COSMIC: HLA-B

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000234745	ENST00000412585	P01889
ENSG00000234745	ENST00000412585	E5FQ95
ENSG00000234745	ENST00000434333	F6U0H7
ENSG00000234745	ENST00000639848	A0A1W2PPR8
ENSG00000234745	ENST00000640094	A0A1W2PP29
ENSG00000234745	ENST00000640615	A0A1W2PQE2

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Expression (GTEx)

1000

2000

3000

4000

5000

6000

7000

8000

9000

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

Pathway	Source	External ID
Adaptive Immune System	REACTOME	R-HSA-1280218
Allograft rejection	KEGG	ko05330
Allograft rejection	KEGG	hsa05330
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	REACTOME	R-HSA-983170
Antigen processing and presentation	KEGG	ko04612
Antigen processing and presentation	KEGG	hsa04612
Antigen processing-Cross presentation	REACTOME	R-HSA-1236975
Autoimmune thyroid disease	KEGG	ko05320
Autoimmune thyroid disease	KEGG	hsa05320
Cell adhesion molecules (CAMs)	KEGG	ko04514

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Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA10715	sulfamethoxazole / trimethoprim	Chemical	VariantAnnotation	associated	PD	26086150
PA143485705	antiepileptics	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous	PD	17509004, 23692434, 25647819
PA162263525	neuropathic pain	Disease	VariantAnnotation	associated	PD	21676164
PA162316739	Maculopapular Exanthema	Disease	ClinicalAnnotation, VariantAnnotation, VipGene	ambiguous	PD	21790926, 22818943, 22909208, 18637831, 20833111, 21071176, 21169036, 21306565, 21397523, 22429379, 22818943, 23830818, 24897291, 25327504, 25495410, 26996548, 27666425, 29512326
PA164712499	Antithyroid Preparations	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	27157822
PA164742970	carbimazole	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	26151496, 26599303
PA164742987	clavulanate	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	30664875
PA164746820	fosphenytoin	Chemical	LabelAnnotation	associated
PA164749390	peginterferon alfa-2a	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	23360626
PA164779048	interferon alfa-2a, recombinant	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	12873589

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References

Pubmed ID	Year	Title	Citations
37134231	2024	A Review of Laboratory Practices Using the HLA-B27 Survey by the College of American Pathologists: How Important Is Allele-Level Typing?	2
37134231	2024	A Review of Laboratory Practices Using the HLA-B27 Survey by the College of American Pathologists: How Important Is Allele-Level Typing?	2
37406822	2024	The protective association of HLA-B∗52:01, HLA-C∗12:02, and DQB1∗06:01 alleles with severe acute hepatitis of unknown origin in Japanese children.	0
37406822	2024	The protective association of HLA-B∗52:01, HLA-C∗12:02, and DQB1∗06:01 alleles with severe acute hepatitis of unknown origin in Japanese children.	0
37552102	2024	HLA-B*53:01 Is a Significant Risk Factor of Liver Injury due to Phenytoin and Other Antiepileptic Drugs in African Americans.	2
37756371	2024	No Association Between HLA-B*57:01 and Prevalence and/or Outcome of Progressive Multifocal Leukoencephalopathy in a French Nationwide Human Immunodeficiency Virus Cohort.	0
37972805	2024	Accurate identification of HLA-B*15:02 allele by two-dimensional polymerase chain reaction.	0
38112753	2024	[The role of HLA-B27 in the pathogenesis and diagnosis of axial spondyloarthritis : 50 years after discovery of the strong genetic association].	0
38171559	2024	[Genetic analysis of a Chinese pedigree with an allele dropout at the HLA-B locus].	0
38285781	2024	HLA-B58 and HLA-B27 Play a Role in the Development of Acute Leukemia: A Case Control Study.	0

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Citation

Dessen P

HLA-B (major histocompatibility complex, class I, B)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46594