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HBD hemoglobin subunit delta [ Homo sapiens (human) ]

Gene ID: 3045, updated on 2-Mar-2021

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
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
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
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Genomic context

See HBD in Genome Data Viewer
Location:
11p15.4
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (5232838..5234483, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5254068..5255713, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes 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 hemoglobin subunit beta Neighboring gene HBD recombination region Neighboring gene delta-globin 5' regulatory region Neighboring gene hemoglobin subunit beta pseudogene 1 Neighboring gene A-gamma-globin 3' regulatory region Neighboring gene beta globin locus transcript 3

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 identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
GeneReviews: Not available
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
GeneReviews: Not available

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 
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 
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 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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 
oxygen transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
cytosol TAS
Traceable Author Statement
more info
 
haptoglobin-hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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.

Genomic

  1. NG_000007.3 RefSeqGene

    Range
    63133..64778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_063112.2 RefSeqGene

    Range
    14175..15820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1335

mRNA and Protein(s)

  1. NM_000519.4NP_000510.1  hemoglobin subunit delta

    See identical proteins and their annotated locations for NP_000510.1

    Status: REVIEWED

    Source sequence(s)
    AY034468, BC070282, BU664913
    Consensus CDS
    CCDS31376.1
    UniProtKB/Swiss-Prot
    P02042
    UniProtKB/TrEMBL
    A0N071
    Related
    ENSP00000497529.1, ENST00000650601.1
    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 109.20210226

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
    5232838..5234483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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