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HBB hemoglobin, beta [ Homo sapiens (human) ]

Gene ID: 3043, updated on 12-Apr-2014
Official Symbol
HBBprovided by HGNC
Official Full Name
hemoglobin, betaprovided by HGNC
Primary source
HGNC:4827
See related
Ensembl:ENSG00000244734; HPRD:00786; MIM:141900; Vega:OTTHUMG00000066678
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
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]
Location :
11p15.5
Sequence :
Chromosome: 11; NC_000011.10 (5225466..5227071, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor, family 52, subfamily Z, member 1 (gene/pseudogene) Neighboring gene olfactory receptor, family 51, subfamily V, member 1 Neighboring gene hemoglobin, delta Neighboring gene hemoglobin, beta pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
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
Fetal hemoglobin quantitative trait locus 1
MedGen: C1841621 OMIM: 141749 GeneReviews: Not available
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Hb SS disease
MedGen: C0002895 OMIM: 603903 GeneReviews: Sickle Cell Disease
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Heinz body anemias
MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
Compare labs
Susceptibility to malaria
MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
NHGRI GWA Catalog
Genome-wide and fine-resolution association analysis of malaria in West Africa.
NHGRI GWA Catalog
Genome-wide association study indicates two novel resistance loci for severe malaria.
NHGRI GWA Catalog
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog
HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
NHGRI GWA Catalog
Imputation-based meta-analysis of severe malaria in three African populations.
NHGRI GWA Catalog
  • African trypanosomiasis, organism-specific biosystem (from KEGG)
    African trypanosomiasis, organism-specific biosystemTrypanosoma brucei, the parasite responsible for African trypanosomiasis (sleeping sickness), are spread by the tsetse fly in sub-Saharan Africa. The parasites are able to pass through the blood-brai...
  • African trypanosomiasis, conserved biosystem (from KEGG)
    African trypanosomiasis, conserved biosystemTrypanosoma brucei, the parasite responsible for African trypanosomiasis (sleeping sickness), are spread by the tsetse fly in sub-Saharan Africa. The parasites are able to pass through the blood-brai...
  • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
    Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Folate Metabolism, organism-specific biosystem (from WikiPathways)
    Folate Metabolism, organism-specific biosystem
    Folate Metabolism
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Malaria, organism-specific biosystem (from KEGG)
    Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
  • Malaria, conserved biosystem (from KEGG)
    Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
    O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
  • Scavenging of Heme from Plasma, organism-specific biosystem (from REACTOME)
    Scavenging of Heme from Plasma, organism-specific biosystemFree heme is damaging to tissues as it intercalates into biologic membranes, perturbing lipid bilayers and promoting the conversion of low-density lipoprotein to cytotoxic oxidized products. Moreover...
  • Selenium Pathway, organism-specific biosystem (from WikiPathways)
    Selenium Pathway, organism-specific biosystem
    Selenium Pathway
  • Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes, organism-specific biosystem (from REACTOME)
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
  • Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes, organism-specific biosystem (from REACTOME)
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...
  • Vitamin B12 Metabolism, organism-specific biosystem (from WikiPathways)
    Vitamin B12 Metabolism, organism-specific biosystem
    Vitamin B12 Metabolism
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to haptoglobin binding IDA
Inferred from Direct Assay
more info
PubMed 
heme binding IEA
Inferred from Electronic Annotation
more info
 
hemoglobin binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxygen binding IDA
Inferred from Direct Assay
more info
PubMed 
oxygen transporter activity NAS
Non-traceable Author Statement
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
 
hydrogen peroxide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
nitric oxide transport NAS
Non-traceable Author Statement
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
oxygen transport NAS
Non-traceable Author Statement
more info
PubMed 
oxygen transport TAS
Traceable Author Statement
more info
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 
protein heterooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
regulation of blood vessel size 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 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
haptoglobin-hemoglobin complex IDA
Inferred from Direct Assay
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 
Preferred Names
hemoglobin subunit beta
Names
hemoglobin subunit beta
beta globin chain
hemoglobin beta chain

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_000007.3 RefSeqGene

    Range
    70545..72150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000518.4NP_000509.1  hemoglobin subunit beta

    See proteins identical to NP_000509.1

    Status: REVIEWED

    Source sequence(s)
    L48217
    Consensus CDS
    CCDS7753.1
    UniProtKB/TrEMBL
    D9YZU5
    UniProtKB/Swiss-Prot
    P68871
    Related
    ENSP00000333994, OTTHUMP00000069644, ENST00000335295, OTTHUMT00000142977
    Conserved Domains (1) summary
    cd01040
    Location:5142
    Blast Score: 322
    globin; Globins are heme proteins, which bind and transport oxygen. This family summarizes a diverse set of homologous protein domains, including: (1) tetrameric vertebrate hemoglobins, which are the major protein component of erythrocytes and transport oxygen ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38 Primary Assembly

    Range
    5225466..5227071, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 Alternate HuRef

    Range
    4905869..4907474, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    5245631..5247236, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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