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Aliases for HBD Gene

Aliases for HBD Gene

  • Hemoglobin Subunit Delta 2 3 5
  • Hemoglobin Delta Chain 4
  • Hemoglobin, Delta 2
  • 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 Factors involved in megakaryocyte development and platelet production and Response to elevated platelet cytosolic Ca2+. 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

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

Genomics for HBD Gene

Regulatory Elements for HBD Gene

Enhancers for HBD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G005274 1.5 FANTOM5 ENCODE dbSUPER 94.2 -40.2 -40172 2.2 HDGF ATF1 ARNT TCF12 ELK1 GATA2 NCOA1 ZNF592 CREB3 MBD2 HBD HBG2 HBB HBG1 HBBP1 ENSG00000221031 OR51V1 OR51B4 GC11M005280 GC11M005254
GH11G005287 1.6 FANTOM5 ENCODE dbSUPER 79.3 -53.4 -53372 3.2 HDGF PKNOX1 ATF1 TCF12 ZNF766 GATA2 FOS JUNB SMARCB1 ZNF592 HBD HBG2 HBG1 ENSG00000224091 HBBP1 HBB OR51V1 ENSG00000221031 OR52A4P OR51M1
GH11G005279 1.8 FANTOM5 Ensembl ENCODE dbSUPER 50 -45.7 -45656 2.6 HDGF PKNOX1 CREB3L1 ARNT ZNF766 FOS DEK JUNB REST ZNF592 HBG2 HBD HBB ENSG00000221031 OR51B4 HBG1 GC11M005280 GC11M005283
GH11G005281 0.8 FANTOM5 dbSUPER 45.2 -43.5 -43545 0.2 ESRRA GATA2 NFYB NR2C1 ZNF592 HBD HBG2 HBG1 HBB ENSG00000221031 HBBP1 OR51B4 GC11M005280 GC11M005254 GC11M005255
GH11G005292 1 ENCODE dbSUPER 11.1 -50.5 -50488 1.8 KLF1 TAL1 ZNF644 ZKSCAN1 RELA TCF12 FOXM1 ZNF316 POLR2A NCOR1 ENSG00000224091 HBB ENSG00000221031 HBBP1 HBD OR51V1 HBG1 OR51B5 GC11M005283 OR51AB1P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HBD on UCSC Golden Path with GeneCards custom track

Genomic Location for HBD Gene

Chromosome:
11
Start:
5,232,678 bp from pter
End:
5,235,370 bp from pter
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

Protein Domains for HBD Gene

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

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

Gene Ontology (GO) - Molecular Function for HBD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen transporter 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

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
extracellular 5
cytosol 5
nucleus 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 --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0072562 blood microparticle IDA 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:0006810 transport IEA --
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:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HBD Gene

Hemoglobin, delta:
Representative Sequences:

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

No ASD Table

Relevant External Links for HBD Gene

GeneLoc Exon Structure for
HBD
ECgene alternative splicing isoforms for
HBD

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, PaxDb, 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:

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(4.8)
  • Liver(4.4)
  • Bone marrow(2.9)
  • Kidney(2.2)
  • Heart(2.1)

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

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

Primer Products

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 34 35
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia HBB 34 35
  • 86.11 (n)
-- 35
  • 80 (a)
ManyToMany
-- 35
  • 77 (a)
ManyToMany
-- 35
  • 72 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 82 (a)
ManyToMany
-- 35
  • 80 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Hbb-bs 35
  • 78 (a)
ManyToMany
Hbb-bt 35
  • 78 (a)
ManyToMany
Hbb-bh2 35
  • 54 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves HBB 35
  • 69 (a)
ManyToMany
HBE1 35
  • 66 (a)
ManyToMany
HBG1 35
  • 64 (a)
ManyToMany
HBE 35
  • 64 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 59 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-5k11.6 35
  • 41 (a)
ManyToMany
hbaa1 35 35
  • 40 (a)
ManyToMany
hbz 35
  • 40 (a)
ManyToMany
hbae1 35 35
  • 38 (a)
ManyToMany
hbae3 35
  • 38 (a)
ManyToMany
si:ch211-5k11.2 35
  • 38 (a)
ManyToMany
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

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

Paralogs for HBD Gene

Paralogs for HBD Gene

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 Sequence Context AA Info Type
rs34224604 Pathogenic 5,234,128(-) ACCCT(-/A)AGGTG reference, frameshift-variant
rs34430836 Pathogenic 5,234,080(-) ATGGC(C/G)TGGCT reference, missense
rs34975911 Pathogenic 5,234,560(-) CTGCT(C/T)ATCTT utr-variant-5-prime
rs35152987 Pathogenic 5,234,352(-) GTGAG(G/T)CCCTG reference, missense
rs35324967 Pathogenic 5,232,765(-) AGATA(A/G)GGAGC downstream-variant-500B

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)

Relevant External Links for HBD Gene

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

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

Disorders for HBD Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemoglobin lepore-beta-thalassemia syndrome
  • hblepore-beta-thalassemia syndrome
fetal hemoglobin quantitative trait locus 1
  • hereditary persistence of fetal hemoglobin
delta-thalassemia
thalassemia
  • sickle-cell thalassemia with crisis
malignant secondary hypertension
- 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

Relevant External Links for HBD

Genetic Association Database (GAD)
HBD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  2. Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. (PMID: 12402333) De Angioletti M. … Carestia C. (Hum. Mutat. 2002) 3 4 22 64
  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 64
  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. (Ann. Hematol. 2010) 3 22 64
  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 64

Products for HBD Gene

Sources for HBD Gene

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