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HLA-B Gene(Protein Coding)

Major Histocompatibility Complex, Class I, B

GCID:
GC06M031277
GIFtS:
65
Genes Participants
UDN Logo

Aliases for HLA-B Gene

Aliases for HLA-B Gene

  • Major Histocompatibility Complex, Class I, B 2 3 5
  • HLAB 3 4
  • HLA Class I Histocompatibility Antigen, B-12 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, B-21 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, B-5 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, B Alpha Chain 3
  • MHC Class I Antigen HLA-B Alpha Chain 3
  • MHC Class I Antigen HLA-B Heavy Chain 3
  • MHC HLA-B Transmembrane Glycoprotein 3
  • MHC HLA-B Cell Surface Glycoprotein 3
  • Leukocyte Antigen Class I-B 3
  • HLA Class I Antigen HLA-B 3
  • MHC Class I Antigen SHCHA 3
  • MHC Class I Antigen B*13 4
  • MHC Class I Antigen B*14 4
  • MHC Class I Antigen B*15 4
  • MHC Class I Antigen B*18 4
  • MHC Class I Antigen B*27 4
  • MHC Class I Antigen B*35 4
  • MHC Class I Antigen B*37 4
  • MHC Class I Antigen B*38 4
  • MHC Class I Antigen B*39 4
  • MHC Class I Antigen B*40 4
  • MHC Class I Antigen B*41 4
  • MHC Class I Antigen B*42 4
  • MHC Class I Antigen B*44 4
  • MHC Class I Antigen B*45 4
  • MHC Class I Antigen B*46 4
  • MHC Class I Antigen B*47 4
  • MHC Class I Antigen B*48 4
  • MHC Class I Antigen B*49 4
  • MHC Class I Antigen B*50 4
  • MHC Class I Antigen B*51 4
  • MHC Class I Antigen B*52 4
  • MHC Class I Antigen B*53 4
  • MHC Class I Antigen B*54 4
  • MHC Class I Antigen B*55 4
  • MHC Class I Antigen B*56 4
  • MHC Class I Antigen B*57 4
  • MHC Class I Antigen B*58 4
  • MHC Class I Antigen B*59 4
  • MHC Class I Antigen B*67 4
  • MHC Class I Antigen B*73 4
  • MHC Class I Antigen B*78 4
  • MHC Class I Antigen B*81 4
  • MHC Class I Antigen B*82 4
  • MHC Class I Antigen B*7 4
  • MHC Class I Antigen B*8 4
  • Ankylosing Spondylitis 2
  • MHC Class I Molecule 3
  • MHC Class 1 Antigen 3
  • B-4901 3
  • Bw-22 4
  • Bw-41 4
  • Bw-44 4
  • Bw-45 4
  • Bw-46 4
  • Bw-47 4
  • Bw-48 4
  • Bw-50 4
  • Bw-52 4
  • Bw-53 4
  • Bw-54 4
  • Bw-55 4
  • Bw-56 4
  • Bw-57 4
  • Bw-58 4
  • Bw-60 4
  • Bw-4 4
  • BDT 4
  • AS 3

External Ids for HLA-B Gene

Previous HGNC Symbols for HLA-B Gene

  • AS

Previous GeneCards Identifiers for HLA-B Gene

  • GC06M031376
  • GC06M031426
  • GC06M031342
  • GC06M031429
  • GC06M031345
  • GC06M031321
  • GC06M031112
  • GC06M031354

Summaries for HLA-B Gene

Entrez Gene Summary for HLA-B Gene

  • HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for HLA-B Gene

HLA-B (Major Histocompatibility Complex, Class I, B) is a Protein Coding gene. Diseases associated with HLA-B include Hypersensitivity Syndrome, Carbamazepine-Induced and Spondyloarthropathy 1. Among its related pathways are Allograft rejection and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. GO annotations related to this gene include receptor binding and peptide antigen binding. An important paralog of this gene is HLA-C.

UniProtKB/Swiss-Prot for HLA-B Gene

  • Involved in the presentation of foreign antigens to the immune system.

Gene Wiki entry for HLA-B Gene

PharmGKB "VIP" Summary for HLA-B Gene

No data available for CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-B Gene

Genomics for HLA-B Gene

Products:

  1. Regulatory Element

Regulatory Elements for HLA-B Gene

Enhancers for HLA-B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G031353 1.8 FANTOM5 Ensembl ENCODE dbSUPER 26.9 +1.0 1021 7.0 HDGF PKNOX1 ATF1 ZNF493 WRNIP1 ZFP64 SIN3A NSD2 ZNF2 GLIS2 HLA-C LY6G5B CCHCR1 PPT2 LSM2 ATF6B DDX39B HLA-B ENSG00000271581 TCF19
GH06G031733 1.9 FANTOM5 ENCODE dbSUPER 11.5 -380.2 -380243 8.5 MLX CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 LY6G5C LSM2 LY6G5B VARS ABHD16A MICA EHMT2 PRRC2A C4A CLIC1
GH06G031269 1.6 FANTOM5 ENCODE dbSUPER 13.2 +85.8 85751 4.4 HDGF PKNOX1 ATF1 WRNIP1 ARID4B SIN3A GLI4 ZNF2 YY1 ZNF121 HLA-C PSORS1C3 PPT2 DDX39B LY6G5B TCF19 LSM2 PSORS1C2 ATF6B HCG18
GH06G031307 1.2 FANTOM5 Ensembl ENCODE 11 +48.8 48756 1.3 MAZ PKNOX1 ZNF687 HCFC1 DDX20 SIN3A GATAD2B EBF1 NFYB PBX2 HLA-C PSORS1C3 PSORS1C2 HLA-B LOC101929072 ENSG00000256166 DPCR1 ENSG00000271581 WASF5P POU5F1
GH06G031567 2.1 FANTOM5 Ensembl ENCODE dbSUPER 4.9 -221.2 -221207 22.2 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YBX1 YY1 SLC30A9 ZNF143 DDX39B TNF LY6G5B LSM2 DHX16 ATF6B TCF19 PPP1R10 VARS CSNK2B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HLA-B on UCSC Golden Path with GeneCards custom track

Promoters for HLA-B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195527 412 2001 HDGF PKNOX1 ATF1 WRNIP1 SIN3A ZNF2 GLIS2 ZNF143 FOS ZNF263

Transcription factor binding sites by QIAGEN in the HLA-B gene promoter:

Genomic Location for HLA-B Gene

Chromosome:
6
Start:
31,269,491 bp from pter
End:
31,357,212 bp from pter
Size:
87,722 bases
Orientation:
Minus strand

Genomic View for HLA-B Gene

Genes around HLA-B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HLA-B Gene

Proteins for HLA-B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HLA-B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01889-1B07_HUMAN
    Recommended name:
    HLA class I histocompatibility antigen, B-7 alpha chain
    Protein Accession:
    P01889
    Secondary Accessions:
    • Q29638
    • Q29681
    • Q29854
    • Q29861
    • Q31613
    • Q5SRJ2
    • Q9GIX1
    • Q9TP95

    Protein attributes for HLA-B Gene

    Size:
    362 amino acids
    Molecular mass:
    40460 Da
    Quaternary structure:
    • Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein (By similarity). Interacts with HTLV-1 accessory protein p12I.

    Three dimensional structures from OCA and Proteopedia for HLA-B Gene

neXtProt entry for HLA-B Gene

Protein Expression for HLA-B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HLA-B Gene

Other Protein References for HLA-B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HLA-B Gene

Domains & Families for HLA-B Gene

Gene Families for HLA-B Gene

HGNC:

Protein Domains for HLA-B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HLA-B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01889

UniProtKB/Swiss-Prot:

1B38_HUMAN :
  • Belongs to the MHC class I family.
Family:
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with HLA-B: view

Function for HLA-B Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for HLA-B Gene

GENATLAS Biochemistry:
HLA-B,beta chain,44kDa,class Ia (see MHC1)
UniProtKB/Swiss-Prot Function:
Involved in the presentation of foreign antigens to the immune system.

Gene Ontology (GO) - Molecular Function for HLA-B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IBA --
GO:0005515 protein binding IPI 18322206
GO:0042605 peptide antigen binding ISS,IBA --
genes like me logo Genes that share ontologies with HLA-B: view
genes like me logo Genes that share phenotypes with HLA-B: view

Human Phenotype Ontology for HLA-B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for HLA-B

CRISPR Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HLA-B Gene

Localization for HLA-B Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-B Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLA-B gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 4
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HLA-B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane IBA,TAS --
GO:0005887 integral component of plasma membrane NAS --
genes like me logo Genes that share ontologies with HLA-B: view

Pathways & Interactions for HLA-B Gene

genes like me logo Genes that share pathways with HLA-B: view

Interacting Proteins for HLA-B Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000399168%0d%0a9606.ENSP00000452780%0d%0a9606.ENSP00000431445%0d%0a9606.ENSP00000302120%0d%0a9606.ENSP00000310127%0d%0a9606.ENSP00000245414%0d%0a
Selected Interacting proteins: P30461-1B13_HUMAN ENSP00000399168 P30480-1B42_HUMAN P01889-1B07_HUMAN P30466-1B18_HUMAN P30481-1B44_HUMAN P03989-1B27_HUMAN P30460-1B08_HUMAN P30483-1B45_HUMAN Q31612-1B73_HUMAN P30495-1B56_HUMAN P18463-1B37_HUMAN P30486-1B48_HUMAN P30462-1B14_HUMAN P18464-1B51_HUMAN P30464-1B15_HUMAN P30485-1B47_HUMAN P30484-1B46_HUMAN P30493-1B55_HUMAN P10319-1B58_HUMAN P30491-1B53_HUMAN Q29940-1B59_HUMAN Q29718-1B82_HUMAN P30492-1B54_HUMAN P30685-1B35_HUMAN Q31610-1B81_HUMAN Q95365-1B38_HUMAN P30498-1B78_HUMAN P30475-1B39_HUMAN P30490-1B52_HUMAN P18465-1B57_HUMAN Q04826-1B40_HUMAN Q29836-1B67_HUMAN P30479-1B41_HUMAN P30488-1B50_HUMAN P30487-1B49_HUMAN for HLA-B Gene via MINT STRING IID

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
B2M

Gene Ontology (GO) - Biological Process for HLA-B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I IBA,TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS --
GO:0002667 regulation of T cell anergy IMP --
genes like me logo Genes that share ontologies with HLA-B: view

No data available for SIGNOR curated interactions for HLA-B Gene

Drugs & Compounds for HLA-B Gene

Products:

  1. Drug

(60) Drugs for HLA-B Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbamazepine Approved, Investigational Pharma 132
Coccidioides immitis spherule Approved Pharma Target 0
Abacavir Approved, Investigational Pharma 214
Acetazolamide Approved, Vet_approved Pharma 80
Allopurinol Approved Pharma 145

(44) Additional Compounds for HLA-B Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycerylphosphorylethanolamine
  • 2-Aminoethyl ester 1-Glycerophosphoric acid
  • a-Glycerophosphorylethanolamine
  • alpha-Glycerophosphorylethanolamine
  • Glycerol 3-phosphoethanolamine
  • Glycerol 3-phosphorylethanolamine
 1190-00-7
genes like me logo Genes that share compounds with HLA-B: view

Transcripts for HLA-B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HLA-B Gene

(2) REFSEQ mRNAs :
(290) Additional mRNA sequences :
(792) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HLA-B Gene

Major histocompatibility complex, class I, B:
Representative Sequences:

CRISPR Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-B Gene

No ASD Table

Relevant External Links for HLA-B Gene

GeneLoc Exon Structure for
HLA-B
ECgene alternative splicing isoforms for
HLA-B

Expression for HLA-B Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HLA-B Gene

mRNA expression in normal human tissues for HLA-B Gene
mRNA expression by BioGPS for HLA-B GenemRNA expression by GTEx for HLA-B Gene

mRNA differential expression in normal tissues according to GTEx for HLA-B Gene

This gene is overexpressed in Whole Blood (x15.6).

Protein differential expression in normal tissues from HIPED for HLA-B Gene

This gene is overexpressed in Amniocyte (36.4) and Oral epithelium (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HLA-B Gene



Protein tissue co-expression partners for HLA-B Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for HLA-B Gene:

Hs.77961

Evidence on tissue expression from TISSUES for HLA-B Gene

  • Blood(5)
  • Nervous system(5)
  • Intestine(4.9)
  • Liver(4.9)
  • Lung(4.9)
  • Pancreas(4.8)
  • Spleen(4.8)
  • Stomach(4.7)
  • Skin(4.6)
  • Kidney(3.9)
  • Eye(3.8)
  • Thyroid gland(3.6)
  • Heart(3.3)
  • Muscle(3)
  • Bone(2.5)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HLA-B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • meninges
  • mouth
  • neck
  • salivary gland
Thorax:
  • aorta
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • penis
  • testicle
  • vagina
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with HLA-B: view

No data available for mRNA Expression by UniProt/SwissProt for HLA-B Gene

Orthologs for HLA-B Gene

This gene was present in the common ancestor of chordates.

Orthologs for HLA-B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PATR-B 34 35
  • 96.13 (n)
cow
(Bos Taurus)
 Mammalia BOLA-A 34
  • 82.96 (n)
dog
(Canis familiaris)
 Mammalia DLA88 34
  • 82.59 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100217322 34
  • 52.61 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC796419 34
  • 44.14 (n)
Species where no ortholog for HLA-B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HLA-B Gene

ENSEMBL:
Gene Tree for HLA-B (if available)
TreeFam:
Gene Tree for HLA-B (if available)

Paralogs for HLA-B Gene

Paralogs for HLA-B Gene

(147) SIMAP similar genes for HLA-B Gene using alignment to 6308 proteins:

genes like me logo Genes that share paralogs with HLA-B: view

Variants for HLA-B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-B Gene

1B07_HUMAN-P01889
The following alleles of B-7 are known: B*07:02 (B7.2), B*07:03 (BPOT), B*07:04, B*07:05, B*07:06 (B7_L79), B*07:18 and B*07:24. The sequence shown is B*07:02.
1B27_HUMAN-P03989
The following alleles of B-27 are known: B*27:01=B*27:05, B*27:02 (B27.2; B-27k; B27e), B*27:03 (B27d), B*27:04, B*27:06, B*27:07, B*27:08 (B7Qui) and B*27:09 (B27-ci). The sequence shown is that of B*27:01.
1B58_HUMAN-P10319
The following alleles of B-58 are known: B*58:01, B*58:02, B*58:04 and B*58:05. The sequence shown is that of B*58:01. Allele B*58:01 is an important genetic risk factor for severe cutaneous adverse reactions to allopurinol in the Han Chinese population [MIM:608579].
1B37_HUMAN-P18463
The following alleles of B-37 are known: B*37:01, B*37:04 and B*37:05. The sequence shown is that of B*37:01.
1B51_HUMAN-P18464
The following alleles of B-51 are known: B*51:01, B*51:03, B*51:04, B*51:08 and B*51:24. The sequence shown is that of B*51:01.
1B57_HUMAN-P18465
The following alleles of B-57 are known: B*57:01, B*57:02 (Bw57.2), B*57:03 (B-57SAU) and B*57:05. The sequence shown is that of B*57:01.
1B08_HUMAN-P30460
The following alleles of B-8 are known: B*08:01, B*08:04, B*08:06, B*08:07 (B*NV), B*08:09 (B*HM; B*08HO), B*08:10, B*08:12, B*08:13 and B*08:14. The sequence shown is B*08:01.
1B13_HUMAN-P30461
The following alleles of B-13 are known: B*13:01 (B13.1), B*13:02 (B13.2), B*13:04 and B*13:08. The sequence shown is that of B*13:02.
1B14_HUMAN-P30462
The following alleles of B-14 are known: B*14:01 (Bw-64; B-64), B*14:02 (Bw-65, B-65) and B*14:03. The sequence shown is that of B*14:01.
1B15_HUMAN-P30464
The following alleles of B-15 are known: B*15:01 (Bw-62; B-62), B*15:02 (Bw-75, B-75), B*15:03 (Bw-72; B-72; B-70) B*15:04, B*15:11, B*15:19 and B*15:66. The sequence shown is that of B*15:01.
1B18_HUMAN-P30466
The following alleles of B-18 are known: B*18:01 B*18:02, B*18:03, B*18:07 (B*MF), B*18:10, B*18:11, B*18:12 and B*18:13. The sequence shown is that of B*18:01.
1B39_HUMAN-P30475
The following alleles of B-39 are known: B*39:01 (B39.1), B*39:02 (B9.2), B*39:03, B*39:04 (B39N), B*39:05 (ST-16), B*39:06 (B39G), B*39:07 (B39uw3), B*39:09, B*39:10, B*39:12 (B3901v), B*39:23 (B39022v1) and B*39:24. The sequence shown is that of B*39:01.
1B41_HUMAN-P30479
The following alleles of B-41 are known: B*41:01, B*41:02 (B41.2), B*41:03, B*41:04 and B*41:05. The sequence shown is that of B*41:01.
1B42_HUMAN-P30480
The following alleles of B-42 are known: B*42:01 (Bw-42) and B*42:02. The sequence shown is that of B*42:01.
1B44_HUMAN-P30481
The following alleles of B-44 are known: B*44:02 (B-12; B44.2), B*44:04, B*44:05, B*44:07, B*44:08 (B44BO), B*44:09, B*44:12 and B*44:13. The sequence shown is that of B*44:02.
1B45_HUMAN-P30483
The following alleles of B-45 are known: B*45:01 (B-12), B*45:03 and B*45:04. The sequence shown is that of B*45:01.
1B46_HUMAN-P30484
The following alleles of B-46 are known: B*46:01 and B*46:02. The sequence shown is that of B*46:01.
1B47_HUMAN-P30485
The following alleles of B-47 are known: B*47:01, B*47:02 and B*47:03. The sequence shown is that of B*47:01.
1B48_HUMAN-P30486
The following alleles of B-48 are known: B*48:01 and B*48:03. The sequence shown is that of B*48:01.
1B49_HUMAN-P30487
The following alleles of B-49 are known: B*49:01, B*49:02 and B*49:03 (B*RA). The sequence shown is that of B*49:01.
1B50_HUMAN-P30488
The following alleles of B-50 are known: B*50:01, B*50:02 (B*45ZJ; B50IM) and B*50:04. The sequence shown is that of B*50:01.
1B52_HUMAN-P30490
The following alleles of B-52 are known: B*52:01, B*52:02 (B*52012V) and B*52:03. The sequence shown is that of B*52:01.
1B53_HUMAN-P30491
The following alleles of B-53 are known: B*53:01, B*53:02, B*53:03, B*53:04, B*53:05, B*53:06 and B*53:07. The sequence shown is that of B*53:01.
1B54_HUMAN-P30492
The following alleles of B-54 are known: B*54:01 and B*54:02 (B5401V). The sequence shown is that of B*54:01.
1B55_HUMAN-P30493
The following alleles of B-55 are known: B*55:01, B*55:02, B*55:04 (B55.2), B*55:05, B*55:08 (B*ER), B*55:09 and B*55:12. The sequence shown is that of B*55:01.
1B56_HUMAN-P30495
The following alleles of B-56 are known: B*56:01, B*56:02, B*56:03 (B22N), B*56:04, B*56:05 (B56V1), B*56:06 and B*56:07. The sequence shown is that of B*56:01.
1B78_HUMAN-P30498
The following alleles of B-78 are known: B*78:01 (B SNA), B*78:02 and B*78:03. The sequence shown is that of B*78:01.
1B35_HUMAN-P30685
The following alleles of B-35 are known: B*35:01, B*35:02, B*35:03, B*35:04, B*35:05 (B35-G), B*35:06 (B35-K), B*35:07, B*35:08, B*35:25, B*35:28, B*35:29 (B*KG), B*35:30, B*35:32 (B*TMUL) and B*35:36. The sequence shown is that of B*35:01.
1B40_HUMAN-Q04826
The following alleles of B-40 are known: B*40:01, B*40:02, B*40:03 (B40-G1), B*40:04 (B40-G2), B*40:05 (BN21), B*40:06, B*40:08, B*40:09, B*40:16 and B*40:27. The sequence shown is that of B*40:02.
1B82_HUMAN-Q29718
The following alleles of B-82 are known: B*82:01 and B*82:02. The sequence shown is that of B*82:01.
1B67_HUMAN-Q29836
The following alleles of B-67 are known: B*67:01 (B-67LAV) and B*67:02. The sequence shown is that of B*67:01.
1B38_HUMAN-Q95365
The following alleles of B-38 are known: B*38:01, B*38:02, B*38:03, B*38:04, B*38:05, B*38:06, B*38:07 and B*38:08. The sequence shown is that of B*38:01.

Sequence variations from dbSNP and Humsavar for HLA-B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1001384765 -- 31,358,564(+) GTCTC(A/G)TATCT upstream-variant-2KB
rs1001497166 -- 31,354,827(+) TGGAC(A/C)AACTG intron-variant, downstream-variant-500B
rs1002109462 -- 31,359,067(+) TTTGA(C/T)TATCT upstream-variant-2KB
rs1002287490 -- 31,353,671(+) GCCTC(A/T)GTGGT downstream-variant-500B
rs1002795639 -- 31,354,183(+) AGGGA(C/T)GCAGA nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HLA-B Gene

Variant ID Type Subtype PubMed ID
dgv10375n54 CNV gain 21841781
dgv10379n54 CNV loss 21841781
dgv10381n54 CNV gain 21841781
dgv10393n54 CNV loss 21841781
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10410n54 CNV loss 21841781
dgv10411n54 CNV gain 21841781
dgv10439n54 CNV loss 21841781
dgv10440n54 CNV gain 21841781
dgv10441n54 CNV gain 21841781
dgv10442n54 CNV gain 21841781
dgv10443n54 CNV gain 21841781
dgv1094e199 CNV deletion 23128226
dgv119e19 CNV loss 19470904
dgv1747e212 CNV loss 25503493
dgv995e201 CNV deletion 23290073
dgv996e201 CNV deletion 23290073
esv2421676 OTHER complex 20811451
esv2422229 CNV deletion 17116639
esv2422407 CNV duplication 17116639
esv27315 CNV gain+loss 19812545
esv2731821 CNV deletion 23290073
esv2759414 CNV gain+loss 17122850
esv2946 OTHER sequence alteration 18987735
esv33563 CNV gain+loss 17666407
esv3411275 CNV duplication 20981092
esv9271 CNV loss 19470904
esv998282 CNV loss 20482838
nsv1074389 CNV deletion 25765185
nsv10818 CNV gain+loss 18304495
nsv1112899 CNV deletion 24896259
nsv1144139 CNV deletion 24896259
nsv428140 CNV gain+loss 18775914
nsv462814 CNV loss 19166990
nsv601608 CNV loss 21841781
nsv601687 CNV gain 21841781
nsv601828 CNV loss 21841781
nsv601835 CNV loss 21841781
nsv969379 CNV duplication 23825009

Variation tolerance for HLA-B Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 27.23; 99.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLA-B Gene

Human Gene Mutation Database (HGMD)
HLA-B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-B

Disorders for HLA-B Gene

MalaCards: The human disease database

(61) MalaCards diseases for HLA-B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypersensitivity syndrome, carbamazepine-induced
  • toxic epidermal necrolysis
spondyloarthropathy 1
  • psoriatic arthritis
hla-b-related altered drug metabolism
  • abacavir hypersensitivity, susceptibility to
takayasu arteritis
  • takayasu's arteritis
phenytoin or carbamazepine toxicity
- elite association - COSMIC cancer census association via MalaCards
Search HLA-B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

1B38_HUMAN
  • Spondyloarthropathy 1 (SPDA1) [MIM:106300]: A chronic rheumatic disease with multifactorial inheritance. It includes a spectrum of related disorders comprising ankylosing spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g. Reiter syndrome), arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthropathy. These disorders may occur simultaneously or sequentially in the same patient, probably representing various phenotypic expressions of the same disease. Ankylosing spondylitis is the form of rheumatoid arthritis affecting the spine and is considered the prototype of seronegative spondyloarthropathies. It produces pain and stiffness as a result of inflammation of the sacroiliac, intervertebral, and costovertebral joints. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A restricted number of HLA-B27 subtypes can be associated with ankylosing spondylitis and other B27-related diseases, and an elevated frequency of the B*2702 allele in ankylosing spondylitis patients is identified. The allele B*2707 seems to have a protective role some populations because it was found only in the healthy controls.
  • Stevens-Johnson syndrome (SJS) [MIM:608579]: A rare blistering mucocutaneous disease that share clinical and histopathologic features with toxic epidermal necrolysis. Both disorders are characterized by high fever, malaise, and a rapidly developing blistering exanthema of macules and target-like lesions accompanied by mucosal involvement. Stevens-Johnson syndrome is a milder disease characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis and sometimes blindness. It can be caused by a severe adverse reaction to particular types of medication, although Mycoplasma infections may induce some cases. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Increased susceptibility to Stevens-Johnson syndrome is conferred by allele B*15:02.

Relevant External Links for HLA-B

Genetic Association Database (GAD)
HLA-B
Human Genome Epidemiology (HuGE) Navigator
HLA-B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLA-B
genes like me logo Genes that share disorders with HLA-B: view

No data available for Genatlas for HLA-B Gene

Publications for HLA-B Gene

  1. HLA-B, DR and DQ antigens polymorphism in Tunisian patients with ankylosing spondylitis (a case-control study). (PMID: 19655145) Kchir M.M. … Makni S. (Rheumatol. Int. 2010) 3 22 46 64
  2. MICA polymorphisms and haplotypes with HLA-B and HLA-DRB1 in Koreans. (PMID: 19895570) Sohn Y.H. … Kwon O.J. (Tissue Antigens 2010) 3 22 46 64
  3. Polymorphisms of HLA-A and HLA-B genes in genetic susceptibility to esophageal carcinoma in Chaoshan Han Chinese. (PMID: 19392852) Hu S.P. … Cai K.L. (Dis. Esophagus 2010) 3 22 46 64
  4. Confirmation of HLA class II independent type 1 diabetes associations in the major histocompatibility complex including HLA-B and HLA-A. (PMID: 19143813) Howson J.M. … Todd J.A. (Diabetes Obes Metab 2009) 3 22 46 64
  5. [Association of HLA-A, B antigens with susceptibility to advanced endometriosis in Koreans]. (PMID: 18458507) Whang D.H. … Choi Y.M. (Korean J Lab Med 2008) 3 22 46 64

Products for HLA-B Gene

  • Cloud-Clone Corp. Antibodies for HLA-B
  • Cloud-Clone Corp. Proteins for HLA-B
  • Cloud-Clone Corp Assay Kits for HLA-B

Sources for HLA-B Gene

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