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HBD Gene

protein-coding   GIFtS: 53
GCID: GC11M005253

Hemoglobin, Delta

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hemoglobin, Delta1 2
Hemoglobin Delta Chain2 3
Delta Globin2
Delta-Globin Chain2
Hemoglobin Subunit Delta2
Delta-globin3

External Ids:    HGNC: 48291   Entrez Gene: 30452   Ensembl: ENSG000002236097   OMIM: 1420005   UniProtKB: P020423   

Export aliases for HBD gene to outside databases

Previous GC identifers: GC11M005996 GC11M005549 GC11M005206 GC11M005213 GC11M005217 GC11M005204 GC11M005210 GC11M005251 GC11M004913


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 thalassemia, delta-, and thalassemia due to hb lepore. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBE1.

UniProtKB/Swiss-Prot: HBD_HUMAN, P02042
Function: Involved in oxygen transport from the lung to the various peripheral tissues

Gene Wiki entry for HBD Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the HBD gene promoter:
         TBP   C/EBPbeta   TFIID   STAT3   IRF-1   HNF-4alpha1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHBD promoter sequence
   Search Chromatin IP Primers for HBD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HBD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.5

HBD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBD gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005253:  view genomic region     (about GC identifiers)

Start:
5,253,908 bp from pter      End:
5,256,600 bp from pter
Size:
2,693 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HBD_HUMAN, P02042 (See protein sequence)
Recommended Name: Hemoglobin subunit delta  
Size: 147 amino acids; 16055 Da
Subunit: Heterotetramer of two alpha chains and two delta chains in adult hemoglobin A2 (HbA2). HbA2 represents
less than 3.5% of adult hemoglobin
2 PDB 3D structures from and Proteopedia for HBD:
1SHR (3D)        1SI4 (3D)    
Secondary accessions: Q3Y5H3 Q8WXT7

Explore the universe of human proteins at neXtProt for HBD: NX_P02042

Explore proteomics data for HBD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HBD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000510.1  
    ENSEMBL proteins: 
     ENSP00000292901   ENSP00000369654   ENSP00000414741   ENSP00000393810  
    Reactome Protein details: P02042

    HBD Human Recombinant Protein Products:

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    Novus Biologicals HBD Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    HBD Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HBD
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    Abcam antibodies for HBD
    Browse Antibodies at Cloud-Clone Corp.
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    LSBio Antibodies in human, mouse, rat for HBD

    HBD Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HBD
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR012292 Globin_dom
     IPR009050 Globin-like
     IPR000971 Globin
     IPR002337 Haemoglobin_b

    Graphical View of Domain Structure for InterPro Entry P02042

    ProtoNet protein and cluster: P02042

    1 Blocks protein domain: IPB002337 Beta haemoglobin signature

    UniProtKB/Swiss-Prot: HBD_HUMAN, P02042
    Similarity: Belongs to the globin family


    HBD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HBD_HUMAN, P02042
    Function: Involved in oxygen transport from the lung to the various peripheral tissues

         Genatlas biochemistry entry for HBD:
    hemoglobin,delta,adult

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005344oxygen transporter activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0019825oxygen binding IEA--
    GO:0020037heme binding IEA--
         
    HBD for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HBD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HBD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HBD
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    miRNA
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    Block miRNA regulation of human, mouse, rat HBD using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate HBD:
    hsa-miR-3160-3p
    SwitchGear 3'UTR luciferase reporter plasmidHBD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HBD
    Predesigned siRNA for gene silencing in human, mouse, rat HBD

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: HBD (NM_000519)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBD

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005833hemoglobin complex IEA--
    GO:0072562blood microparticle IDA--

    HBD for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HBD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1O2/CO2 exchange in erythrocytes
    O2/CO2 exchange in erythrocytes
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes0.00
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes0.00
    2Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging of Heme from Plasma0.53
    3Hemostasis
    Hemostasis0.43
    4Metabolism
    Metabolism0.38
    5Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for HBD
        Factors involved in megakaryocyte development and platelet production



    HBD for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HBD
    Interactions:

        Search GeneGlobe Interaction Network for HBD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for HBD (P020423 ENSP000003696544) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HBA1P699053, ENSP000003224214I2D: score=1 STRING: ENSP00000322421
    HBA2P699053, ENSP000002515954I2D: score=1 STRING: ENSP00000251595
    AHSPENSP000003071994STRING: ENSP00000307199
    CYB5R3ENSP000003384614STRING: ENSP00000338461
    HBBENSP000003339944STRING: ENSP00000333994
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007596blood coagulation TAS--

    HBD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HBD

    2 HMDB Compounds for HBD    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    OxygenOxygen (see all 5)7782-44-7--

    1 Novoseek inferred chemical compound relationship for HBD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrofolate 39.9 1 8612704 (1)



    HBD for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HBD gene: 
    NM_000519.3  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000292901 ENST00000380299(uc001maf.1) ENST00000417377 ENST00000429817

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HBD using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate HBD:
    hsa-miR-3160-3p
    SwitchGear 3'UTR luciferase reporter plasmidHBD 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HBD
    Predesigned siRNA for gene silencing in human, mouse, rat HBD
    Clone
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    GenScript: all cDNA clones in your preferred vector: HBD (NM_000519)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBD
    Primer
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    OriGene qPCR primer pairs and template standards for HBD
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HBD
      QuantiTect SYBR Green Assays in human, mouse, rat HBD
      QuantiFast Probe-based Assays in human, mouse, rat HBD

    6 AceView cDNA sequences:

    BC069307 NM_000519 AY034468 BC070282 BG941162 BG940533 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HBD expression in normal human tissues (normalized intensities)      HBD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAAGAAGGT
    HBD Expression
    About this image


    HBD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Erythroblasts Hematopoietic Bone Marrow
             Umbilical cord blood-derived hematopoietic stem cells
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells
    HBD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HBD Protein Expression

    Genevestigator expression for HBD

    UniProtKB/Swiss-Prot: HBD_HUMAN, P02042
    Tissue specificity: Red blood cells

        Custom PCR Arrays for HBD
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HBD gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HBB6
    HBE16
    (see all 4)
    Gallus gallus hemoglobin, epsilon 1 (HBE1), mRNA.
    (see all 4)
    69(a)
    66(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    1(193723743-193726040) ENSGALG00000028273
    1(193720895-193722856) ENSGALG00000022703
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    59(a)
    1 → many
    GL344018.1(38428-41710)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-5k11.66
    hbz6
    (see all 8)
    hemoglobin zeta
    (see all 8)
    41(a)
    40(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    3(55945253-55946071) ENSDARG00000069735
    12(21694944-21706034) ENSDARG00000045142
            Species with no ortholog for HBD

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HBD gene
    HBE12  HBG22  HBZ2  HBG12  HBA22  HBB2  HBQ12  HBA12  
    HBM2  
    11 SIMAP similar genes for HBD using alignment to 9 protein entries:     HBD_HUMAN (see all proteins):
    HBD/HBB    HBB    HBE1    HBG2    HBG1    HBA1
    HBA2    HBZ    HBQ1    HBM    CYGB

    HBD for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HBD (see all 249)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs353249671,2
    Cpathogenic15168243(-) AGATAA/GGGAGC 1 -- ds50010--------
    rs342182951,2
    Cpathogenic15168472(-) CTGGT-/GTGGCTAA 1 -- cds10--------
    rs344308361,2,,4
    Cpathogenic15169558(-) ATGGCC/GTGGCT 2 L V mis12Minor allele frequency- G:0.00NA 4
    rs342246041,2
    Cpathogenic15169606(-) ACCCT-/AAGGTG 2 R K fra10--------
    rs358875071,2
    Cpathogenic15169671(-) CCCTTG/AGACCC 2 /* /W stg12Minor allele frequency- A:0.00NA 4
    rs356547851,2
    Cpathogenic15169820(-) GGGCAG/CGTTGG 2 /T /R mis12Minor allele frequency- C:0.00NA 4
    rs351529871,2,,4
    C,F,Hpathogenic15169830(-) GTGAGG/TCCCTG 2 A S mis15Minor allele frequency- T:0.00NS NA EU 6105
    rs355183011,2
    Cpathogenic15169992(-) CCAGCA/GTAAAA 1 -- ut511Minor allele frequency- G:0.00NA 2
    rs356611681,2
    Cpathogenic15170037(-) TGCTTA/TTCTTA 1 -- ut510--------
    rs349759111,2
    C,F,Hpathogenic15170038(-) CTGCTT/CATCTT 1 -- ut513Minor allele frequency- C:0.01NS NA 176

    HapMap Linkage Disequilibrium report for HBD (5253908 - 5256600 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HBD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv896929CNV Loss21882294

    Human Gene Mutation Database (HGMD): HBD
    Locus Specific Mutation Databases (LSDB): HBD

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HBD
    DNA2.0 Custom Variant and Variant Library Synthesis for HBD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 142000    OMIM disorders: --

    Selected diseases for HBD (see all 21):    About MalaCards
    thalassemia, delta-    thalassemia due to hb lepore    hemoglobin e disease    hemoglobin sd
    delta-beta thalassemia    hemoglobin s beta-thalassemia    hemoglobin so    hemoglobin ss
    hemoglobin lepore - beta-thalassemia    beta thalassemia    hereditary persistence of fetal hemoglobin    sickle cell disease
    thalassemia    hemoglobinopathy    sickle cell anemia    werner syndrome
    trypanosomiasis    malaria    multiple myeloma    myeloma

    3 diseases from the University of Copenhagen DISEASES database for HBD:
    Thalassemia     Anemia     Sickle cell anemia

    HBD for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for HBD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thalassemia 60.4 1 11493481 (1)
    sickle cell disease 41.2 1 7708766 (1)

    Genatlas disease: HBD
    thalassemia,delta

    Genetic Association Database (GAD): HBD

    Export disorders for HBD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HBD gene, integrated from 10 sources (see all 149):
    (articles sorted by number of sources associating them with HBD)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 15921167)1, 2, 9 Frischknecht H. and Dutly F. (Hemoglobin 2005)
    2. Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. (PubMed id 12402333)1, 2, 9 De Angioletti M.... Carestia C. (Hum. Mutat. 2002)
    3. Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence- based DNA sequence analysis. (PubMed id 1742490)1, 2, 9 Trifillis P.... Surrey S. (Blood 1991)
    4. Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. (PubMed id 17145605)1, 2 Giambona A....Maggio A. (Haematologica 2006)
    5. The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos [Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal diagnosis in an Iranian family. (PubMed id 16370491)1, 2 Eram S.M.... Abdolhosseini A. (Hemoglobin 2005)
    6. Identification of a new delta chain hemoglobin variant in a beta- thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp]. (PubMed id 16370490)1, 2 Walker L.... Waye J.S. (Hemoglobin 2005)
    7. Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb. (PubMed id 15449937)1, 2 Sen U....Dattagupta J.K. (Biochemistry 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant detected in west Sicily. (PubMed id 11939506)1, 2 De Angioletti M.... Carestia C. (Hemoglobin 2002)
    10. Delta-thalassemic phenotype due to two 'novel' delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)- HbA2-Etolia]. (PubMed id 9101295)1, 2 Drakoulakou O....Papadakis M. (Hum. Mutat. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3045 HGNC: 4829 AceView: HBD Ensembl:ENSG00000223609 euGenes: HUgn3045
    ECgene: HBD H-InvDB: HBD

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HBD Pharmacogenomics, SNPs, Pathways
    HbVarhttp://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBD

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