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Aliases for HBD Gene

Aliases for HBD Gene

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

External Ids for HBD Gene

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, Delta) is a Protein Coding gene. Diseases associated with HBD include hemoglobinopathy and thalassemia. Among its related pathways are Hemostasis and Metabolism. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBA2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBD Gene

Genomics for HBD Gene

Genomic Location for HBD Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HBD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBD Gene

Regulatory Elements 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

Proteomics data for HBD Gene at MOPED

Post-translational modifications for HBD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HBD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HBD Gene

Domains for HBD Gene

Protein Domains for HBD Gene

UniProtKB/Swiss-Prot:

HBD_HUMAN
Family:
  • Belongs to the globin family.:
    • P02042
genes like me logo Genes that share domains with HBD: view

No data available for Gene Families for HBD Gene

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

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

Localization for HBD Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HBD Gene COMPARTMENTS Subcellular localization image for HBD gene
Compartment Confidence
cytosol 4
nucleus 2
extracellular 1
mitochondrion 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:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with HBD: view

Pathways for HBD Gene

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

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

Compounds for HBD Gene

(2) HMDB Compounds for HBD Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
Oxygen
  • Oxygen
7782-44-7

(1) Novoseek inferred chemical compound relationships for HBD Gene

Compound -log(P) Hits PubMed IDs
dihydrofolate 39.9 1
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 for HBD Gene

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

This gene is overexpressed in Whole Blood (49.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HBD Gene

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
genes like me logo Genes that share expressions 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 36
  • 99.32 (n)
  • 99.32 (a)
HBD 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 77 (a)
ManyToMany
-- 37
  • 80 (a)
ManyToMany
-- 37
  • 72 (a)
ManyToMany
HBB 36
  • 86.11 (n)
  • 83.33 (a)
HBB 37
  • 83 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 80 (a)
ManyToMany
-- 37
  • 82 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Hbb-bh2 37
  • 54 (a)
ManyToMany
Hbb-bs 37
  • 78 (a)
ManyToMany
Hbb-bt 37
  • 78 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves HBB 37
  • 69 (a)
ManyToMany
HBE 37
  • 64 (a)
ManyToMany
HBE1 37
  • 66 (a)
ManyToMany
HBG1 37
  • 64 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 59 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii hbaa1 37
  • 40 (a)
ManyToMany
hbaa1 37
  • 40 (a)
ManyToMany
hbae1 37
  • 38 (a)
ManyToMany
hbae1 37
  • 35 (a)
ManyToMany
hbae3 37
  • 38 (a)
ManyToMany
hbz 37
  • 40 (a)
ManyToMany
si:ch211-5k11.2 37
  • 38 (a)
ManyToMany
si:ch211-5k11.6 37
  • 41 (a)
ManyToMany
Species with no ortholog for HBD:
  • 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 MAF
rs3752382 -- 5,232,709(-) GGAAC(C/T)GTACA downstream-variant-500B
rs3759074 -- 5,236,548(-) ATCCA(C/T)ATATC upstream-variant-2KB
rs3759075 -- 5,236,415(-) ATCAC(C/T)GTCAT upstream-variant-2KB
rs3759076 -- 5,235,959(-) TATAC(C/T)GTAAT upstream-variant-2KB
rs3813726 -- 5,234,759(-) AGCCT(A/G)AAACA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv896929 CNV Loss 21882294

Relevant External Links for HBD Gene

HapMap Linkage Disequilibrium report
HBD
Human Gene Mutation Database (HGMD)
HBD
Locus Specific Mutation Databases (LSDB)
HBD

Disorders for HBD Gene

(3) University of Copenhagen DISEASES for HBD Gene

(2) Novoseek inferred disease relationships for HBD Gene

Disease -log(P) Hits PubMed IDs
thalassemia 60.4 1
sickle cell disease 41.2 1

Genatlas disease for HBD Gene

thalassemia,delta

Relevant External Links for HBD

Genetic Association Database (GAD)
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. 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
  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 23
  3. 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
  4. Common 5' beta-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism. (PMID: 12736816) Webster M.T. … Harding R.M. (Hum. Genet. 2003) 3 23
  5. Identification of an alternate delta-globin mRNA in adult human erythroid cells. (PMID: 15234005) Goh S.H. … Miller J.L. (Genomics 2004) 3 23

Products for HBD Gene

Sources for HBD Gene

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