Format

Send to:

Choose Destination

HBA2 hemoglobin subunit alpha 2 [ Homo sapiens (human) ]

Gene ID: 3040, updated on 24-May-2020

Summary

Official Symbol
HBA2provided by HGNC
Official Full Name
hemoglobin subunit alpha 2provided by HGNC
Primary source
HGNC:HGNC:4824
See related
Ensembl:ENSG00000188536 MIM:141850
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
HBH; ECYT7; HBA-T2
Summary
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]
Annotation information
Note: We are aware that there is inconsistency among GenBank, RefSeq, and other browsers about the gene order in the alpha globin cluster. According to review by staff at HbVar (http://globin.bx.psu.edu/hbvar/menu.html), the gene order, telomere to centromere, for these loci is ...HBZ(HBZ2)..HBZP(HBZ1)..HBA2..HBA1... [13 Feb 2013]
Orthologs

Genomic context

See HBA2 in Genome Data Viewer
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (172876..173710)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (222846..223709)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene hemoglobin subunit mu Neighboring gene hemoglobin subunit alpha pseudogene 1 Neighboring gene hemoglobin subunit alpha 2 recombination region Neighboring gene hemoglobin subunit alpha 1 recombination region Neighboring gene hemoglobin subunit alpha 1 Neighboring gene hemoglobin subunit theta 1

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
alpha Thalassemia
MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia
Compare labs
ERYTHROCYTOSIS, FAMILIAL, 7
MedGen: C4693823 OMIM: 617981 GeneReviews: Not available
Compare labs
Heinz body anemia
MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
Compare labs
Hemoglobin H disease
MedGen: C3161174 OMIM: 613978 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog

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 
iron 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 carrier activity IBA
Inferred from Biological aspect of Ancestor
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
 
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 
oxygen transport TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cell death IDA
Inferred from Direct Assay
more info
PubMed 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 
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
 
cytosolic small ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
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 
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 TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
hemoglobin subunit alpha
Names
alpha globin
alpha-2 globin
hemoglobin alpha chain
hemoglobin, alpha 2
mutant hemoglobin alpha 2 globin chain
truncated HbA2

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_000006.1 RefSeqGene

    Range
    33739..34573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_059271.1 RefSeqGene

    Range
    5030..5864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000517.6NP_000508.1  hemoglobin subunit alpha

    See identical proteins and their annotated locations for NP_000508.1

    Status: REVIEWED

    Source sequence(s)
    AI016696, V00493, Z84721
    Consensus CDS
    CCDS10398.1
    UniProtKB/Swiss-Prot
    P69905
    UniProtKB/TrEMBL
    D1MGQ2
    Related
    ENSP00000251595.6, ENST00000251595.11
    Conserved Domains (1) summary
    cd08927
    Location:3142
    Hb-alpha_like; Hemoglobin alpha, zeta, mu, theta, and related Hb subunits

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    172876..173710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center