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

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; AllianceGenome:HGNC:4824
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]
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Genomic context

Location:: 16p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (172876..173710)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (166917..167751)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (222875..223709)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene].
Title: [Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene].
[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].
Title: [Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].
Hb H disease associated with compound heterozygosity for --[SEA] deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family.
Title: Hb H disease associated with compound heterozygosity for --(SEA) deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family.
Impact of alpha-Globin Gene Expression and alpha-Globin Modifiers on the Phenotype of beta-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.
Title: Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.
Association of alpha globin gene copy number with exhaled nitric oxide in a cross-sectional study of healthy Black adults.
Title: Association of alpha globin gene copy number with exhaled nitric oxide in a cross-sectional study of healthy Black adults.
Transfusion requirements and complication rate in beta-thalassemia intermedia due to heterozygous beta-globin gene mutation and triplicated alpha-globin genes.
Title: Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.
Detecting rare thalassemia in children with anemia using third-generation sequencing.
Title: Detecting rare thalassemia in children with anemia using third-generation sequencing.
Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.
Title: Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.
Hematological and molecular characteristics of a novel alpha-globin variant Hb Liangqing (HBA2:c.224A>G).
Title: Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G).
Identification of four novel large deletions and complex variants in the alpha-globin locus in Chinese population.
Title: Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population.

Submit: New GeneRIF Correction See all GeneRIFs (155)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

EBI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD20616 (e-PCR)
- UniSTS:301615

RH71405 (e-PCR)
- UniSTS:10346

ECD13499 (e-PCR)
- UniSTS:294528

ECD06858 (e-PCR)
- UniSTS:287916

REN94963 (e-PCR)
- UniSTS:419761

REN94964 (e-PCR)
- UniSTS:419762

REN94965 (e-PCR)
- UniSTS:419763

REN94966 (e-PCR)
- UniSTS:419764

REN94975 (e-PCR)
- UniSTS:419773

REN94976 (e-PCR)
- UniSTS:419774

ECD01232 (e-PCR)
- UniSTS:282339

ECD11810 (e-PCR)
- UniSTS:292844

NoName (e-PCR)
- UniSTS:486125

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to haptoglobin binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to haptoglobin binding	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables oxygen binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen carrier activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to peroxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbon dioxide transport	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hydrogen peroxide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nitric oxide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in oxygen transport	IDA Inferred from Direct Assay more info	PubMed
involved_in oxygen transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oxygen transport	NAS Non-traceable Author Statement more info	PubMed
involved_in oxygen transport	TAS Traceable Author Statement more info	PubMed
involved_in response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endocytic vesicle lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of haptoglobin-hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of haptoglobin-hemoglobin complex	IDA Inferred from Direct Assay more info	PubMed
part_of hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IDA Inferred from Direct Assay more info	PubMed
part_of hemoglobin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of hemoglobin complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: hemoglobin subunit alpha

Names: alpha globin; alpha-2 globin; hemoglobin alpha chain; hemoglobin, alpha 2; mutant hemoglobin alpha 2 globin chain

NCBI Reference Sequences (RefSeq)

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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.