HBD hemoglobin subunit delta [Homo sapiens (human)] - Gene

Summary

Official Symbol: HBDprovided by HGNC
Official Full Name: hemoglobin subunit deltaprovided by HGNC
Primary source: HGNC:HGNC:4829
See related: Ensembl:ENSG00000223609 MIM:142000; AllianceGenome:HGNC:4829
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: HBK
Summary: The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]
Orthologs: all
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Genomic context

Location:: 11p15.4

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5232838..5234483, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5292211..5293856, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5254068..5255713, complement)

Chromosome 11 - NC_000011.10 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?

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.
Title: Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.
Detecting rare thalassemia in children with anemia using third-generation sequencing.
Title: Detecting rare thalassemia in children with anemia using third-generation sequencing.
Molecular characterization of a novel homozygous deletion in beta-globin cluster causing (deltabeta)[0]-Thalassemia among Tunisian family.
Title: Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ)(0)-Thalassemia among Tunisian family.
Analysis of delta-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.
Title: Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.
Delta-globin gene expression improves sickle cell disease in a humanised mouse model.
Title: Delta-globin gene expression improves sickle cell disease in a humanised mouse model.
Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.
Title: Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.
delta-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.
Title: δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.
delta-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience.
Title: δ-Globin Chain Variants Associated with Decreased Hb A(2) Levels: A National Reference Laboratory Experience.
Blood donor homozygous for Hb D Los Angeles.
Title: Blood donor homozygous for Hb D Los Angeles.
The expression of the activated delta-globin gene in a beta-thalassemia mice model greatly improves the phenotype, validating the delta-globin chain as a therapeutic target for beta-hemoglobinopathies.
Title: In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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

EBI GWAS Catalog

Description
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 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

REN97377 (e-PCR)
- UniSTS:422175

REN97378 (e-PCR)
- UniSTS:422176

REN97379 (e-PCR)
- UniSTS:422177

REN97380 (e-PCR)
- UniSTS:422178

REN97381 (e-PCR)
- UniSTS:422179

REN97382 (e-PCR)
- UniSTS:422180

REN97383 (e-PCR)
- UniSTS:422181

REN97384 (e-PCR)
- UniSTS:422182

REN97385 (e-PCR)
- UniSTS:422183

REN97386 (e-PCR)
- UniSTS:422184

REN97387 (e-PCR)
- UniSTS:422185

REN97388 (e-PCR)
- UniSTS:422186

REN97389 (e-PCR)
- UniSTS:422187

REN97390 (e-PCR)
- UniSTS:422188

REN97391 (e-PCR)
- UniSTS:422189

REN97392 (e-PCR)
- UniSTS:422190

REN97393 (e-PCR)
- UniSTS:422191

PMC133721P1 (e-PCR)
- UniSTS:270640

REN97394 (e-PCR)
- UniSTS:422192

REN97395 (e-PCR)
- UniSTS:422193

NoName (e-PCR)
- UniSTS:481587

PMC151694P1 (e-PCR)
- UniSTS:271165

RH71406 (e-PCR)
- UniSTS:77667

ECD19163 (e-PCR)
- UniSTS:300170

RH69634 (e-PCR)
- UniSTS:50848

D11F194S1E (e-PCR)
- UniSTS:58277

PMC114582P1 (e-PCR)
- UniSTS:270273

ECD12576 (e-PCR)
- UniSTS:293609

ECD13106 (e-PCR)
- UniSTS:294137

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to haptoglobin binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables hemoglobin alpha binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal 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
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 oxygen transport	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
part_of haptoglobin-hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: hemoglobin subunit delta

Names: delta globin; delta-globin chain; hemoglobin delta chain; hemoglobin, delta

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.