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HBB hemoglobin subunit beta [ Homo sapiens (human) ]

Gene ID: 3043, updated on 8-Nov-2020

Summary

Official Symbol
HBBprovided by HGNC
Official Full Name
hemoglobin subunit betaprovided by HGNC
Primary source
HGNC:HGNC:4827
See related
Ensembl:ENSG00000244734 MIM:141900
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ECYT6; CD113t-C; beta-globin
Summary
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See HBB in Genome Data Viewer
Location:
11p15.4
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (5225464..5227071, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5246696..5248301, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 51 subfamily V member 1 Neighboring gene beta-globin 3' hypersensitive site 1 Neighboring gene origin of replication at HBB Neighboring gene beta-globin gene 3' regulatory region Neighboring gene HBB recombination region Neighboring gene HBD recombination region Neighboring gene delta-globin 5' regulatory region Neighboring gene hemoglobin subunit delta

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
GeneReviews: Not available
alpha Thalassemia
MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia
Compare labs
beta Thalassemia
MedGen: C0005283 OMIM: 613985 GeneReviews: Beta-Thalassemia
Compare labs
Beta-thalassemia, dominant inclusion body type
MedGen: C1858990 OMIM: 603902 GeneReviews: Not available
Compare labs
Erythrocytosis 6, familial
MedGen: C4693822 OMIM: 617980 GeneReviews: Not available
Compare labs
Fetal hemoglobin quantitative trait locus 1
MedGen: C1841621 OMIM: 141749 GeneReviews: Not available
Compare labs
Genome-wide and fine-resolution association analysis of malaria in West Africa.
GeneReviews: Not available
Genome-wide association study indicates two novel resistance loci for severe malaria.
GeneReviews: Not available
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
GeneReviews: Not available
Hb SS disease
MedGen: C0002895 OMIM: 603903 GeneReviews: Sickle Cell Disease
Compare labs
HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
GeneReviews: Not available
Heinz body anemia
MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
Compare labs
Imputation-based meta-analysis of severe malaria in three African populations.
GeneReviews: Not available
Methemoglobinemia, beta-globin type
MedGen: C1840779 OMIM: 617971 GeneReviews: Not available
Compare labs
Susceptibility to malaria
MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
Compare labs

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of HBB PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to haptoglobin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to haptoglobin binding IDA
Inferred from Direct Assay
more info
PubMed 
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin alpha binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
organic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen binding IDA
Inferred from Direct Assay
more info
PubMed 
oxygen carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen carrier activity NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to peroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bicarbonate transport TAS
Traceable Author Statement
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
hydrogen peroxide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydrogen peroxide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
nitric oxide transport NAS
Non-traceable Author Statement
more info
PubMed 
oxygen transport NAS
Non-traceable Author Statement
more info
PubMed 
oxygen transport TAS
Traceable Author Statement
more info
PubMed 
platelet aggregation HMP PubMed 
positive regulation of cell death IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of nitric oxide biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
renal absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
haptoglobin-hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
haptoglobin-hemoglobin complex IDA
Inferred from Direct Assay
more info
PubMed 
hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin complex IDA
Inferred from Direct Assay
more info
PubMed 
hemoglobin complex NAS
Non-traceable Author Statement
more info
PubMed 
hemoglobin complex TAS
Traceable Author Statement
more info
PubMed 
tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
hemoglobin subunit beta
Names
beta globin chain
hemoglobin beta subunit
hemoglobin, beta

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_059281.1 RefSeqGene

    Range
    5001..6608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000518.5NP_000509.1  hemoglobin subunit beta

    See identical proteins and their annotated locations for NP_000509.1

    Status: REVIEWED

    Source sequence(s)
    AK311825, BU661647
    Consensus CDS
    CCDS7753.1
    UniProtKB/Swiss-Prot
    P68871
    UniProtKB/TrEMBL
    D9YZU5
    Related
    ENSP00000333994.3, ENST00000335295.4
    Conserved Domains (1) summary
    cd08925
    Location:7146
    Hb-beta_like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    5225464..5227071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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