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... See more...

Aliases for HBD Gene

Aliases for HBD Gene

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

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 Summary for HBD Gene

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

Gene Wiki entry for HBD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HBD Gene

Genomics for HBD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HBD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J005242 Enhancer 1 Ensembl dbSUPER 600.7 -0.3 -344 2.8 LEF1 IKZF1 DDX20 MTA2 ZNF740 HDAC1 SOX6 MGA THRA CBX3 HBBP1 HBD HBG2 TRIM68 HBG1 BGLT3
GH11J005272 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 94.2 -38.9 -38944 21.6 CTCF ATF7 RFX1 LEF1 IKZF1 BACH1 JUND ETV6 DDX20 MTA2 lnc-OR51B4-3 HBD HBG2 HBG1 HBB HBBP1 ENSG00000224091 ENSG00000221031 OR51V1 OR52A4P
GH11J005269 Promoter 0.9 EPDnew 12.2 -26.3 -26308 0.1 HNRNPUL1 PKNOX1 NR2C1 POLR2A MTA3 TAF9B NR2C2 NCOR1 TBP TFDP1 HBE1 HBBP1 HBD HBB FAM160A2 ENSG00000221031 HBG1 OR51V1 OR51B4 lnc-OR51B4-3
GH11J005270 Enhancer 0.3 Ensembl 12.2 -27.0 -27044 0.6 NR2F1 HBG1 HBBP1 HBD HBB ENSG00000221031 OR51V1 OR51B4 HBG2 lnc-OR51B4-3 ENSG00000284931
GH11J005234 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 0.4 +10.6 10573 4.2 ZNF512 RFX1 LEF1 IKZF1 JUND PKNOX1 ZNF24 DPF2 HDAC1 SOX6 6FEC_F HBB HBG2 HBD
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HBD

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

Genomic Locations for HBD Gene

Genomic Locations for HBD Gene
chr11:5,232,678-5,243,657
(GRCh38/hg38)
Size:
10,980 bases
Orientation:
Minus strand
chr11:5,253,908-5,256,600
(GRCh37/hg19)
Size:
2,693 bases
Orientation:
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:
    P02042-HBD_HUMAN
    Recommended name:
    Hemoglobin subunit delta
    Protein Accession:
    P02042
    Secondary Accessions:
    • Q3Y5H3
    • Q8WXT7

    Protein attributes for HBD Gene

    Size:
    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

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

Protein Domains for HBD Gene

InterPro:
Blocks:
  • Beta haemoglobin signature
ProtoNet:

Suggested Antigen Peptide Sequences for HBD Gene

GenScript: Design optimal peptide antigens:
  • Hemoglobin, delta (A0N071_HUMAN)
  • Delta-globin B2 variant (B2M1S8_HUMAN)
  • Delta globin (D1MGP8_HUMAN)
  • Delta globin (D1MGQ0_HUMAN)
  • Hemoglobin delta chain (HBD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02042

UniProtKB/Swiss-Prot:

HBD_HUMAN :
  • Belongs to the globin family.
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:
hemoglobin,delta,adult

Phenotypes From GWAS Catalog for HBD Gene

Gene Ontology (GO) - Molecular Function for HBD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 contributes_to peroxidase activity IBA 21873635
GO:0005344 oxygen carrier activity IEA,IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0019825 oxygen binding IEA,IBA 21873635
GO:0020037 heme binding IEA,IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBD

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

COMPARTMENTS
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
cytosol 5
extracellular 4
plasma membrane 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

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,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031838 haptoglobin-hemoglobin complex IBA 21873635
genes like me logo Genes that share ontologies with HBD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) 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

SIGNOR curated interactions for HBD Gene

Is activated by:

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 --
GO:0042744 hydrogen peroxide catabolic process IBA 21873635
GO:0098869 cellular oxidant detoxification IEA --
genes like me logo Genes that share ontologies with HBD: view

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 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBD

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

No ASD Table

Relevant External Links for HBD Gene

GeneLoc Exon Structure for
HBD

Expression for HBD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HBD

SOURCE GeneReport for Unigene cluster for HBD Gene:

Hs.699280

mRNA Expression by UniProt/SwissProt for HBD Gene:

P02042-HBD_HUMAN
Tissue specificity: Red blood cells.

Evidence on tissue expression from TISSUES for HBD Gene

  • Blood(4.9)
  • Liver(4.5)
  • Heart(3.5)
  • Bone marrow(3.3)
  • Nervous system(2.5)
  • Kidney(2.5)
  • Intestine(2.4)
  • Lung(2.3)
  • Skin(2.1)

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

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
Regions:
Abdomen:
  • liver
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia HBD 30 31
  • 99.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HBB 30 31
  • 86.11 (n)
ManyToMany
-- 31
  • 80 (a)
ManyToMany
-- 31
  • 77 (a)
ManyToMany
-- 31
  • 72 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 82 (a)
ManyToMany
-- 31
  • 80 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Hbb-bs 31
  • 78 (a)
ManyToMany
Hbb-bt 31
  • 78 (a)
ManyToMany
Hbb-bh2 31
  • 54 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 75 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 71 (a)
OneToMany
Chicken
(Gallus gallus)
Aves HBB 31
  • 69 (a)
ManyToMany
HBE1 31
  • 66 (a)
ManyToMany
HBG1 31
  • 64 (a)
ManyToMany
HBE 31
  • 64 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 59 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-5k11.6 31
  • 41 (a)
ManyToMany
hbz 31
  • 40 (a)
ManyToMany
hbaa1 31 31
  • 40 (a)
ManyToMany
hbae1 31 31
  • 38 (a)
ManyToMany
si:ch211-5k11.2 31
  • 38 (a)
ManyToMany
hbae3 31
  • 38 (a)
ManyToMany
Species where no ortholog for HBD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for HBD (if available)
TreeFam:
Gene Tree for HBD (if available)
Aminode:
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:

  • HBD_HUMAN
  • A0N071_HUMAN
  • B2M1S8_HUMAN
  • C9JRG0_HUMAN
  • D1MGP8_HUMAN
  • D1MGQ0_HUMAN
  • E9PEW8_HUMAN
  • E9PFT6_HUMAN
  • Q4F786_HUMAN
genes like me logo Genes that share paralogs with HBD: view

Variants for HBD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HBD Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
708948 Benign: not provided 5,234,012(-) G/A SYNONYMOUS_VARIANT
878068 Uncertain Significance: HBD-Related Disorders 5,232,862(-) C/T THREE_PRIME_UTR_VARIANT
879524 Uncertain Significance: Fetal hemoglobin quantitative trait locus 1 5,232,868(-) C/A THREE_PRIME_UTR_VARIANT
879525 Uncertain Significance: Fetal hemoglobin quantitative trait locus 1 5,232,899(-) A/G THREE_PRIME_UTR_VARIANT
879526 Uncertain Significance: Fetal hemoglobin quantitative trait locus 1 5,234,209(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for HBD Gene

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)
HBD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBD

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

(19) MalaCards diseases for HBD Gene - From: 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
thalassemia
  • sickle-cell thalassemia with crisis
beta-thalassemia
  • thalassemia, beta
hemoglobin h disease
  • alpha-thalassemia
- 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

thalassemia,delta

Additional Disease Information for HBD

Genetic Association Database
(GAD)
Open Targets Platform
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 23
  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 23
  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 23
  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 23
  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 23

Products for HBD Gene

Sources for HBD Gene