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Aliases for HBD Gene

Aliases for HBD Gene

  • Hemoglobin Subunit Delta 2 3 3 5
  • Hemoglobin Delta Chain 3 4
  • Hemoglobin, Delta 2 3
  • Delta-Globin Chain 3
  • Delta Globin 3
  • Delta-Globin 4

External Ids for HBD Gene

Previous GeneCards Identifiers for HBD Gene

  • GC11M005996
  • GC11M005549
  • GC11M005206
  • GC11M005213
  • GC11M005217
  • GC11M005204
  • GC11M005210
  • GC11M005251
  • GC11M004913
  • GC11M005253

Summaries for HBD Gene

Entrez Gene Summary for HBD Gene

  • 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]

GeneCards Summary for HBD Gene

HBD (Hemoglobin Subunit Delta) is a Protein Coding gene. Diseases associated with HBD include Hemoglobin Lepore-Beta-Thalassemia Syndrome and Fetal Hemoglobin Quantitative Trait Locus 1. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBB.

UniProtKB/Swiss-Prot for HBD Gene

  • Involved in oxygen transport from the lung to the various peripheral tissues.

Gene Wiki entry for HBD Gene

Additional gene information for HBD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBD Gene

Genomics for HBD Gene

GeneHancer (GH) Regulatory Elements for HBD Gene

Promoters and enhancers for HBD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J005244 Enhancer 0.7 dbSUPER 650.7 -1.5 -1521 1.5 MEIS2 LEF1 NFATC3 TEAD4 EGR1 POLR2A SIRT6 SOX6 L3MBTL2 SMAD5 BGLT3 GC11M005282 HBBP1 HBD HBG2 HBG1 GC11P005064
GH11J005241 Enhancer 0.6 dbSUPER 650.7 +1.6 1635 1.4 PKNOX1 ZNF740 CEBPB BACH1 CBFA2T3 FOSL1 ZNF316 POLR2A EHMT2 MLLT1 HBBP1 HBD HBG2 HBG1 HBB GC11P005064
GH11J005274 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 94.2 -31.9 -31884 2.2 HDGF ATF1 ARNT TCF12 POLR2B GATA2 ATF7 NCOA1 ZNF592 MBD2 HBD HBG2 HBB HBG1 HBBP1 ENSG00000221031 OR51V1 OR51B4 GC11M005280 ENSG00000284931
GH11J005287 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 79.4 -45.1 -45085 3.2 HDGF ATF1 PKNOX1 SMAD1 NCOA2 TCF12 ZNF766 GATA2 FOS ATF7 HBD HBG2 HBG1 ENSG00000224091 HBBP1 HBB OR51V1 ENSG00000221031 OR52A4P OR51M1
GH11J005279 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 50 -37.4 -37368 2.6 HDGF PKNOX1 SMAD1 ARNT ZNF766 E2F8 FOS DEK JUNB REST GC11M005280 HBG2 HBD HBB ENSG00000221031 OR51B4 HBG1 GC11M005283 GC11P005064 HBE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HBD gene promoter:
  • TBP
  • IRF-1
  • STAT3
  • GATA-1
  • C/EBPbeta
  • HNF-4alpha1

Genomic Locations for HBD Gene

Genomic Locations for HBD Gene
10,980 bases
Minus strand
2,693 bases
Minus strand

Genomic View for HBD Gene

Genes around HBD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBD Gene

Proteins for HBD Gene

  • Protein details for HBD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hemoglobin subunit delta
    Protein Accession:
    Secondary Accessions:
    • Q3Y5H3
    • Q8WXT7

    Protein attributes for HBD Gene

    147 amino acids
    Molecular mass:
    16055 Da
    Quaternary structure:
    • Heterotetramer of two alpha chains and two delta chains in adult hemoglobin A2 (HbA2). HbA2 represents less than 3.5% of adult hemoglobin.

    Three dimensional structures from OCA and Proteopedia for HBD Gene

neXtProt entry for HBD Gene

Post-translational modifications for HBD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HBD Gene

No data available for DME Specific Peptides for HBD Gene

Domains & Families for HBD Gene

Gene Families for HBD Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HBD Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the globin family.
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBD: view

Function for HBD Gene

Molecular function for HBD Gene

UniProtKB/Swiss-Prot Function:
Involved in oxygen transport from the lung to the various peripheral tissues.
GENATLAS Biochemistry:

Phenotypes From GWAS Catalog for HBD Gene

Gene Ontology (GO) - Molecular Function for HBD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen carrier activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0019825 oxygen binding IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with HBD: view
genes like me logo Genes that share phenotypes with HBD: view

Human Phenotype Ontology for HBD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HBD Gene

Localization for HBD Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBD gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HBD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005833 hemoglobin complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0072562 blood microparticle HDA 22516433
genes like me logo Genes that share ontologies with HBD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBD Gene

Pathways & Interactions for HBD Gene

genes like me logo Genes that share pathways with HBD: view

Pathways by source for HBD Gene

Gene Ontology (GO) - Biological Process for HBD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation TAS --
GO:0015671 oxygen transport IEA --
genes like me logo Genes that share ontologies with HBD: view

No data available for SIGNOR curated interactions for HBD Gene

Drugs & Compounds for HBD Gene

(2) Drugs for HBD Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
heme Pharma Agonist 0

(1) Additional Compounds for HBD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HBD: view

Transcripts for HBD Gene

mRNA/cDNA for HBD Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HBD Gene

Hemoglobin, delta:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HBD Gene

No ASD Table

Relevant External Links for HBD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HBD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HBD Gene

mRNA differential expression in normal tissues according to GTEx for HBD Gene

This gene is overexpressed in Whole Blood (x49.8).

Protein differential expression in normal tissues from HIPED for HBD Gene

This gene is overexpressed in Lavage (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HBD Gene

Protein tissue co-expression partners for HBD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HBD Gene:


SOURCE GeneReport for Unigene cluster for HBD Gene:


mRNA Expression by UniProt/SwissProt for HBD Gene:

Tissue specificity: Red blood cells.

Evidence on tissue expression from TISSUES for HBD Gene

  • Blood(4.8)
  • Liver(4.4)
  • Bone marrow(3)
  • Heart(2.2)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HBD Gene

Germ Layers:
  • endoderm
  • mesoderm
  • cardiovascular
  • liver
  • blood
  • bone marrow
  • red blood cell
genes like me logo Genes that share expression patterns with HBD: view

Orthologs for HBD Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HBD 34 33
  • 99.32 (n)
(Bos Taurus)
Mammalia HBB 34 33
  • 86.11 (n)
-- 34
  • 80 (a)
-- 34
  • 77 (a)
-- 34
  • 72 (a)
(Canis familiaris)
Mammalia -- 34
  • 82 (a)
-- 34
  • 80 (a)
(Mus musculus)
Mammalia Hbb-bs 34
  • 78 (a)
Hbb-bt 34
  • 78 (a)
Hbb-bh2 34
  • 54 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 71 (a)
(Gallus gallus)
Aves HBB 34
  • 69 (a)
HBE1 34
  • 66 (a)
HBG1 34
  • 64 (a)
HBE 34
  • 64 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 59 (a)
(Danio rerio)
Actinopterygii si:ch211-5k11.6 34
  • 41 (a)
hbz 34
  • 40 (a)
hbaa1 34 34
  • 40 (a)
hbae1 34 34
  • 38 (a)
si:ch211-5k11.2 34
  • 38 (a)
hbae3 34
  • 38 (a)
Species where no ortholog for HBD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBD Gene

Gene Tree for HBD (if available)
Gene Tree for HBD (if available)
Evolutionary constrained regions (ECRs) for HBD: view image

Paralogs for HBD Gene

Paralogs for HBD Gene

(11) SIMAP similar genes for HBD Gene using alignment to 9 proteins:

  • A0N071_HUMAN
  • B2M1S8_HUMAN
  • Q4F786_HUMAN
genes like me logo Genes that share paralogs with HBD: view

Variants for HBD Gene

Sequence variations from dbSNP and Humsavar for HBD Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs112372029 uncertain-significance, Fetal hemoglobin quantitative trait locus 1 5,234,493(-) T/A 5_prime_UTR_variant
rs113727122 uncertain-significance, Fetal hemoglobin quantitative trait locus 1 5,234,081(-) G/A coding_sequence_variant, synonymous_variant
rs144322869 uncertain-significance, Fetal hemoglobin quantitative trait locus 1 5,234,495(-) G/A 5_prime_UTR_variant
rs186432678 uncertain-significance, Fetal hemoglobin quantitative trait locus 1 5,234,613(-) T/C 5_prime_UTR_variant
rs28933076 other, HEMOGLOBIN A(2) WRENS 5,234,011(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for HBD Gene

Variant ID Type Subtype PubMed ID
dgv1041n100 CNV loss 25217958
dgv1596n54 CNV loss 21841781
dgv183e214 CNV loss 21293372
esv3625215 CNV loss 21293372
nsv1036997 CNV gain 25217958
nsv553226 CNV loss 21841781

Variation tolerance for HBD Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HBD Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBD Gene

Disorders for HBD Gene

MalaCards: The human disease database

(17) MalaCards diseases for HBD Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemoglobin lepore-beta-thalassemia syndrome
  • hblepore-beta-thalassemia syndrome
fetal hemoglobin quantitative trait locus 1
  • hbfqtl1
  • sickle-cell thalassemia with crisis
malignant secondary hypertension
  • thalassemias, beta-
- elite association - COSMIC cancer census association via MalaCards
Search HBD in MalaCards View complete list of genes associated with diseases

Genatlas disease for HBD Gene


Additional Disease Information for HBD

genes like me logo Genes that share disorders with HBD: view

No data available for UniProtKB/Swiss-Prot for HBD Gene

Publications for HBD Gene

  1. Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene. (PMID: 15921167) Frischknecht H … Dutly F (Hemoglobin 2005) 3 4 22 58
  2. Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. (PMID: 12402333) De Angioletti M … Carestia C (Human mutation 2002) 3 4 22 58
  3. Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. (PMID: 1742490) Trifillis P … Surrey S (Blood 1991) 3 4 22 58
  4. HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects. (PMID: 19609526) Lacerra G … Carestia C (Annals of hematology 2010) 3 22 58
  5. Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area. (PMID: 18221842) Lacerra G … Carestia C (Gene 2008) 3 22 58

Products for HBD Gene

Sources for HBD Gene

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