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HBA2 Gene

protein-coding   GIFtS: 60
GCID: GC16P000298

Hemoglobin, Alpha 2

  See HBA2-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, Alpha 21 2     Alpha-2 Globin2
Hemoglobin Alpha Chain2 3     alpha-globin2
HBH2 5     Hemoglobin Subunit Alpha2
Alpha Globin2     Alpha-globin3

External Ids:    HGNC: 48241   Entrez Gene: 30402   Ensembl: ENSG000001885367   OMIM: 1418505   UniProtKB: P699053   

Export aliases for HBA2 gene to outside databases

Previous GC identifers: GC16P000242 GC16P000157 GC16P000160 GC16P000162 GC16P000244 GC16P000140 GC16P000252 GC16P000257 GC16P000261 GC16P000265 GC16P000269 GC16P000291


(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 HBA2 Gene:
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta -
pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding
sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they
differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA,
which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to
constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha
thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some
nondeletion alpha thalassemias have also been reported. (provided by RefSeq, Jul 2008)

GeneCards Summary for HBA2 Gene:
HBA2 (hemoglobin, alpha 2) is a protein-coding gene. Diseases associated with HBA2 include hemoglobin quong sze, and hemoglobin constant spring. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBE1.

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
Function: Involved in oxygen transport from the lung to the various peripheral tissues

Gene Wiki entry for HBA2 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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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the HBA2 gene promoter:
         Sp1   AP-1   ATF-2   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HBA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HBA2


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

HBA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBA2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000298:  view genomic region     (about GC identifiers)

Start:
222,846 bp from pter      End:
223,709 bp from pter
Size:
864 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HBA_HUMAN, P69905 (See protein sequence)
Recommended Name: Hemoglobin subunit alpha  
Size: 142 amino acids; 15258 Da
Subunit: Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA); two alpha chains and
two delta chains in adult hemoglobin A2 (HbA2); two alpha chains and two epsilon chains in early embryonic
hemoglobin Gower-2; two alpha chains and two gamma chains in fetal hemoglobin F (HbF)
Miscellaneous: Gives blood its red color
Sequence caution: Sequence=BAD97112.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for HBA2 (see all 217):
1A00 (3D)        1A01 (3D)        1A0U (3D)        1A0Z (3D)        1A3N (3D)        1A3O (3D)    
Secondary accessions: P01922 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0

Explore the universe of human proteins at neXtProt for HBA2: NX_P69905

Explore proteomics data for HBA2 at MOPED

Post-translational modifications: 

  • The initiator Met is not cleaved in variant Thionville and is acetylated1
  • Glycosylation2 at Lys8, Lys17, Lys41, Lys62
  • Modification sites at PhosphoSitePlus

  • See HBA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000508.1  
    ENSEMBL proteins: 
     ENSP00000251595   ENSP00000380908  
    Reactome Protein details: P69905

    HBA2 Human Recombinant Protein Products:

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    Novus Biologicals HBA2 Lysate
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HBA2
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for HBA2 

    HBA2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HBA2
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    HBA2 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for HBA2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR002339 Haemoglobin_pi
     IPR012292 Globin_dom
     IPR002338 Haemoglobin_a
     IPR009050 Globin-like
     IPR000971 Globin

    Graphical View of Domain Structure for InterPro Entry P69905

    ProtoNet protein and cluster: P69905

    UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
    Similarity: Belongs to the globin family


    Find genes that share domains with HBA2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HBA_HUMAN, P69905
    Function: Involved in oxygen transport from the lung to the various peripheral tissues

         Genatlas biochemistry entry for HBA2:
    hemoglobin,alpha 2,adult

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004601contributes to peroxidase activity IDA19740759
    GO:0005344oxygen transporter activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI10390349
    GO:0019825oxygen binding IEA--
         
    Find genes that share ontologies with HBA2           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hba-a1):
     cellular  growth/size/body  hematopoietic system  homeostasis/metabolism  integument 
     mortality/aging  muscle 

    Find genes that share phenotypes with HBA2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for HBA2: Hba-a1Hba-tm1Ywk Hba-a1Hba-tm1Led

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HBA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HBA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HBA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HBA2

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    GenScript: all cDNA clones in your preferred vector: HBA2 (NM_000517)
    Sino Biological Human cDNA Clone for HBA2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBA2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HBA2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBA2


    (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
    cytosol5
    extracellular4
    cytoskeleton3
    nucleus2
    plasma membrane2
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005829cytosol TAS--
    GO:0005833hemoglobin complex TAS7555018
    GO:0022627cytosolic small ribosomal subunit IDA8706699
    GO:0031838haptoglobin-hemoglobin complex IDA19740759

    Find genes that share ontologies with HBA2           About GenesLikeMe


    (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 HBA2 About   (see all 6)  
    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
    3Metabolism
    Metabolism0.38
    4Selenium Pathway
    Selenium Pathway
    5Malaria
    Malaria


    Find genes that share SuperPaths with HBA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HBA2
        Selenium Pathway


    3 Reactome Pathways for HBA2
        Erythrocytes take up carbon dioxide and release oxygen
    Erythrocytes take up oxygen and release carbon dioxide
    Scavenging of heme from plasma


    2 Kegg Pathways  (Kegg details for HBA2):
        African trypanosomiasis
    Malaria

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HBA2
    Interactions:

        GeneGlobe Interaction Network for HBA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for HBA2 (P699051, 2, 3 ENSP000002515954) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTENP604842, 3, ENSP000003610214MINT-63919 I2D: score=4 STRING: ENSP00000361021
    UBE3AQ050862, 3, ENSP000003810454MINT-8276413 I2D: score=2 STRING: ENSP00000381045
    CTSDP073392, 3, ENSP000002366714MINT-3974347 I2D: score=1 STRING: ENSP00000236671
    NAP1L1P552092, 3MINT-63873 I2D: score=3 
    HBBP688711, 2, 3, ENSP000003339944EBI-714680,EBI-715554 MINT-24813 I2D: score=10 STRING: ENSP00000333994
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010942positive regulation of cell death IDA19740759
    GO:0015671oxygen transport TAS7518430
    GO:0015701bicarbonate transport TAS--
    GO:0042542response to hydrogen peroxide IDA19740759
    GO:0042744hydrogen peroxide catabolic process IDA19740759

    Find genes that share ontologies with HBA2           About GenesLikeMe



    (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 HBA2 (HBA)

    Selected Novoseek inferred chemical compound relationships for HBA2 gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    23-diphosphoglycerate 45.2 3
    hmba 43.6 3 1741249 (2)
    iron 42.1 10 12358889 (3), 18676996 (1), 1985702 (1), 1737090 (1) (see all 8)
    hydroxyurea 38 3 16019448 (1), 19914848 (1), 11112383 (1)
    cellulose acetate 27 2 15359601 (1)
    valine 26.7 5 2023247 (2), 8580853 (2), 10956059 (1)
    poly c 24.9 1 10606523 (1)
    oxygen 20.8 7 2023247 (2), 1427042 (1), 11035948 (1), 19205974 (1) (see all 5)
    isoleucine 17.6 1 2023247 (1)
    methionine 17 2 8580853 (2)



    Find genes that share compounds with HBA2           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HBA2 gene: 
    NM_000517.4  

    Unigene Cluster for HBA2:

    Hemoglobin, alpha 2
    Hs.654744  [show with all ESTs]
    Unigene Representative Sequence: BI771544
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251595(uc002cfv.4) ENST00000397806 ENST00000482565 ENST00000484216

    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat HBA2

    Additional mRNA sequence: 

    AF097635.1 AF147332.1 BC005931.1 BC008572.1 BC032122.2 BC050661.1 DQ655926.2 DQ655927.2 
    V00493.1 

    Selected DOTS entries (see all 54):

    DT.100763115  DT.87006562  DT.92474555  DT.87007649  DT.95073457  DT.100860413  DT.95275573  DT.454828 
    DT.87005366  DT.95275550  DT.92474442  DT.100854998  DT.86992853  DT.95275514  DT.95235785  DT.95275579 
    DT.100833672  DT.100863766  DT.40314843  DT.100831289  DT.100758729  DT.100758728  DT.120689527  DT.120689423 

    Selected AceView cDNA sequences (see all 2898):

    N53495 H94674 AA340288 BC005931 F30532 AA343402 CR608818 R94268 
    H62157 H73099 AA329584 C05505 N83493 BI031080 CR619822 AA300300 
    R96602 CR604936 CR616441 CR626195 AA339822 CR594768 CR617808 AJ712459 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HBA2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b
    SP1:                                    
    SP2:              -                     


    ECgene alternative splicing isoforms for HBA2

    (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 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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    HBA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAACGCGC
    HBA2 Expression
    About this image


    HBA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Stem Cells Subcutaneous White Adipose
             Body Subcutaneous White Adipose
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Erythroblasts Hematopoietic Bone Marrow
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Yolk Sac (Extraembryonic Tissues)
             Erythroid Progenitor Cells Definitive Yolk Sac
    HBA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HBA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654744

    UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
    Tissue specificity: Red blood cells

        Custom PCR Arrays for HBA2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBA2

    (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 HBA2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hba-a11 , 5 hemoglobin alpha, adult chain 11, 5 81.46(n)1
    86.62(a)1
      11 (18.86 cM)5
    151221  NM_008218.21  NP_032244.21 
     322835115 
    chicken
    (Gallus gallus)
    Aves HBAA1 hemoglobin, alpha 1 73.94(n)
    70.42(a)
      416652  NM_001004376.2  NP_001004376.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia X02798.12   -- 74.06(n)    X02798.1 
    zebrafish
    (Danio rerio)
    Actinopterygii HBQ16
    hemoglobin, theta 1
    46(a)
    1 → many
    12(21688563-21689767) ENSDARG00000045144


    ENSEMBL Gene Tree for HBA2 (if available)
    TreeFam Gene Tree for HBA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HBA2 gene
    HBA11 2  HBE12  HBG22  HBZ2  HBG12  HBD2  HBB2  HBQ12  
    HBM2  
    11 SIMAP similar genes for HBA2 using alignment to 11 protein entries:     HBA_HUMAN (see all proteins):
    HBA1    G-gamma    HBQ1    HBZ    HBG1    HBM
    HBG2    HBB    HBD    HBE1    CYGB

    Find genes that share paralogs with HBA2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for HBA2
    PGOHUM00000248959


    (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 HBA2 (see all 353)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1110336031,2
    Cpathogenic1222913(+) CACCAC/TGGTGC 2 T M mis10--------
    rs637514571,2
    Cpathogenic1222980(+) GCTGGC/TGAGTA 2 G syn10--------
    rs414577461,2
    Cpathogenic1223122(+) CCCGCA/GGGATG 1 -- spa10--------
    rs339870531,2
    Cpathogenic1223519(+) CCGCCA/C/G/
            
    AGTTC
    3 Q E * mis1 stg10--------
    rs637511781,2
    Cuntested1222915(+) CCATGA/C/GTGCTG 3 M L V mis10--------
    rs339818211,2
    Cuntested1222916(+) CATGGA/C/G/
            
    GCTGT
    4 E A G V mis10--------
    rs637505851,2
    Cuntested1222919(+) GGTGCC/G/TGTCTC 3 P R L mis10--------
    rs637509461,2
    Cuntested1222925(+) GTCTCA/C/GTGCCG 3 H P R mis10--------
    rs2818648061,2
    Cuntested1222930(+) CTGCCA/C/G/
            
    ACAAG
    4 N H D Y mis10--------
    rs2818648051,2
    Cuntested1222931(+) TGCCGA/C/G/
            
    CAAGA
    4 D A G V mis10--------

    HapMap Linkage Disequilibrium report for HBA2 (222846 - 223709 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HBA2 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662940CNV Deletion23128226
    esv2421557CNV Deletion20811451
    esv2676630CNV Deletion23128226
    esv2667554CNV Deletion23128226
    esv2422427CNV Duplication17116639
    dgv2462n71CNV Loss21882294
    nsv904660CNV Loss21882294
    nsv433295CNV Loss18776910
    dgv2463n71CNV Loss21882294
    dgv2460n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): HBA2
    Locus Specific Mutation Databases (LSDB): HBA2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HBA2
    DNA2.0 Custom Variant and Variant Library Synthesis for HBA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 141850   
    OMIM disorders: 604131  140700  613978  
    UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
  • Heinz body anemias (HEIBAN) [MIM:140700]: Form of non-spherocytic hemolytic anemia of Dacie type 1. After
    splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the
    erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably
    instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the
    Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. Note=The
    disease may be caused by mutations affecting the gene represented in this entry
  • Alpha-thalassemia (A-THAL) [MIM:604131]: A form of thalassemia. Thalassemias are common monogenic
    diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is
    an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range
    from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes
    alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains,
    the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen
    carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early
    neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous
    alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the
    four alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of
    alpha-thalassemia are due to point mutations (non-deletional alpha-thalassemia). Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Note=Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus
    with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a
    diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of
    disorders
  • Hemoglobin H disease (HBH) [MIM:613978]: A form of alpha-thalassemia due to the loss of three alpha
    genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and
    life-threatening anemia. Untreated, most patients die in childhood or early adolescence. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for HBA2 (see all 24):    
    About MalaCards
    hemoglobin quong sze    hemoglobin constant spring    hemoglobin pakse    hypochromic microcytic anemia
    alpha thalassemia    hemoglobin h disease, nondeletional    hb bart's hydrops fetalis    heinz body anemia
    erythrocytosis    alpha-thalassemia - intellectual disability syndrome linked to chromosome 16    autosomal dominant methemoglobinemia    neonatal anemia
    heinz body anemias    microcytic anemia    beta thalassemia    vascular cancer
    bronchiolitis obliterans organizing pneumonia    hydrops fetalis    capillary hemangioma    cryptogenic organizing pneumonia

    Selected diseases from the University of Copenhagen DISEASES database for HBA2 (see all 21):
    Thalassemia     Diabetes mellitus     Sarcoma     Anemia
    Vascular disease     Vascular cancer     Carcinoma     Lymphangioma
    Hemangioma     Diabetic retinopathy     Sickle cell anemia     Capillary hemangioma
    Heart disease     Hyperglycemia     Lung disease     Epithelioid sarcoma
    Hypoglycemia     Kaposi's sarcoma     Hemangiopericytoma     Breast cancer

    Find genes that share disorders with HBA2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HBA2 gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-thalassemia 94.7 29 10569721 (2), 9544971 (1), 11960579 (1), 12730694 (1) (see all 23)
    beta-thalassemia 87.6 39 18768527 (2), 15931385 (2), 10872480 (1), 10975440 (1) (see all 30)
    thalassemia 86.6 24 15025281 (2), 2339704 (1), 17607349 (1), 16696397 (1) (see all 17)
    hemoglobinopathies 83.7 7 11042028 (2), 14757425 (1), 1586745 (1), 8811313 (1) (see all 6)
    h disease 82.4 5 11551109 (1), 9372271 (1), 9255612 (1), 11122156 (1) (see all 5)
    intermedia thalassemia 81.8 5 1634369 (1), 11042028 (1), 14757425 (1), 18932071 (1) (see all 5)
    beta thalassemia heterozygous 80.5 1 15025281 (1)
    erythroleukemia 66.3 4 1741249 (1), 10223722 (1), 8699328 (1)
    hydrops fetalis 62.8 3 9544971 (1), 7550311 (1), 16787871 (1)
    sickle cell disease 62.5 3 12673836 (2), 11080057 (1)

    GeneTests: HBA2
    GeneReviews: HBA2
    Genetic Association Database (GAD): HBA2
    Human Genome Epidemiology (HuGE) Navigator: HBA2 (5 documents)

    Export disorders for HBA2 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)
    About This Section

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    PubMed articles for HBA2 gene, integrated from 10 sources (see all 517):
    (articles sorted by number of sources associating them with HBA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. (PubMed id 6452630)1, 2, 3 Liebhaber S.A.... Kan Y.W. (Proc. Natl. Acad. Sci. U.S.A. 1980)
    2. Alpha globin gene numbers: an important modifier of HbE/beta thalassemia. (PubMed id 19843387)1, 4 Sharma V....Saxena R. (Hematology 2009)
    3. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    4. Alpha2(CD31 AGG-->AAG, Arg-->Lys) causing non-deletional alpha- thalassemia in a Chinese family with HbH disease. (PubMed id 11410421)1, 2 Zhao Y. and Xu X. (Haematologica 2001)
    5. Influence of alpha-thalassemia trait on the prevalence and severity of anemia in pregnancy among women in Kuwait. (PubMed id 11154980)1, 4 Diejomaoh F.M....Adekile A.D. (Acta Haematol. 2000)
    6. Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb Charolles [alpha103(G10)His-Tyr, alpha1]. (PubMed id 10569723)1, 2 Lacan P.... Becchi M. (Hemoglobin 1999)
    7. Crystal structure of a human embryonic haemoglobin: the carbonmonoxy form of Gower II (alpha2 epsilon2) haemoglobin at 2.9-A resolution. (PubMed id 9665850)1, 2 Sutherland-Smith A.J....Baker E.N. (J. Mol. Biol. 1998)
    8. Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia. (PubMed id 8195005)1, 2 Giordano P.C.... Bernini L.F. (Hemoglobin 1994)
    9. Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant. (PubMed id 8294199)1, 2 Wacjman H.... Galacteros F. (Hemoglobin 1993)
    10. A third quaternary structure of human hemoglobin A at 1.7-A resolution. (PubMed id 1512262)1, 2 Silva M.M.... Arnone A. (J. Biol. Chem. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 3040 HGNC: 4824 AceView: HB_ Ensembl:ENSG00000188536 euGenes: HUgn3040
    ECgene: HBA2 Kegg: 3040 H-InvDB: HBA2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for HBA2 Pharmacogenomics, SNPs, Pathways
    HbVarhttp://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA1
    HbVarhttp://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA2
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HBA1[genesymbol]
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HBA2[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1
    Wikipedia http://en.wikipedia.org/wiki/Hemoglobin
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/084/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HBA2 gene:
    Search GeneIP for patents involving HBA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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