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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HBA2 Gene

protein-coding   GIFtS: 60
GCID: GC16P000291

Hemoglobin, Alpha 2

Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hemoglobin, Alpha 21 2     Alpha-2 Globin2
Hemoglobin Alpha Chain2 3     alpha-globin2
HBH2     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


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 alpha thalassemia, 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HBA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC16P000291:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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;
6/207 PDB 3D structures from and Proteopedia for HBA2 (see all 207):
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:

  • UniProtKB: The initiator Met is not cleaved in variant Thionville and is acetylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P69905

  • HBA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HBA2 Protein Expression
    REFSEQ proteins: NP_000508.1  
    ENSEMBL proteins: 
     ENSP00000251595   ENSP00000380908  
    Reactome Protein details: P69905
    Human Recombinant Protein Products for HBA2: 
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    Novus Biologicals HBA2 Proteins
    Novus Biologicals HBA2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for HBA2
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    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

    HBA2 for ontologies           About GeneDecksing



    HBA2 Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 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


    HBA2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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--
         
    HBA2 for ontologies           About GeneDecksing


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

    HBA2 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HBA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBA2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HBA2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Selenium Pathway
    Selenium Pathway
    2African trypanosomiasis
    African trypanosomiasis
    3Malaria
    Malaria

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HBA2
        Selenium Pathway

    5/6        Reactome Pathways for HBA2 (see all 6)
        Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
    Metabolism
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes
    O2/CO2 exchange in erythrocytes
    Scavenging of Heme from Plasma


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


    HBA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HBA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/36 Interacting proteins for HBA2 (P699051, 2, 3 ENSP000002515954) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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

    HBA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HBA2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HBA2 (HBA)

    10/20 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)

    Search CenterWatch for drugs/clinical trials and news about HBA2 / HBA

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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      QIAGEN 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 

    24/54 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 

    24/2898 AceView cDNA sequences (see all 2898):

    AW161306 BX325172 AA338183 R77923 CR610186 AA343426 R89444 AJ713549 
    AA340470 CR601323 T55536 CR616078 R28988 CR601289 AA369216 CR597819 
    AI708002 CR618751 AA321276 CR608113 CR620969 CR592332 CR618304 CR618898 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HBA2 expression in normal human tissues (normalized intensities)      HBA2 embryonic expression: see
    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 
     5/12 selected tissues (see all 12) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 10 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Bone Marrow CD105+ Cells   
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Stem Cells Subcutaneous White Adipose
             Body Subcutaneous White Adipose
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Cord Blood Natural Killer Cells (CD56+)   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Fetal Liver CD34+ Cells   
     
     Spleen (Hematopoietic System)    fully expand to see all 2 entries
             spleen ; cells in white pulp   

    See HBA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HBA2

    SOURCE GeneReport for Unigene cluster: Hs.654744

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

        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HBA2 gene from 4/10 species (see all 10)    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 si:ch211-5k11.66
    hbaa16
    (see all 7)
    hemoglobin alpha adult-1
    (see all 7)
    57(a)
    53(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    3(55945253-55946071)
    3(55951717-55957631)


    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)
    About This Section
    Paralogs for HBA2 gene
    HBA11 2  HBE12  HBG22  HBZ2  HBG12  HBD2  HBB2  HBQ12  
    HBM2  
    11 SIMAP similar genes for HBA2 using alignment to 8 protein entries:     HBA_HUMAN (see all proteins):
    HBA1    HBQ1    G-gamma    HBZ    HBG1    HBM
    HBG2    HBB    HBD    HBE1    CYGB

    HBA2 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/353 SNPs in HBA2 are shown (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) 10/23 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 141850   
    OMIM disorders: 604131  140700  
    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

  • 20/56 diseases for HBA2 (see all 56):    About MalaCards
    alpha thalassemia    hemoglobin constant spring    hemoglobin quong sze    alpha thalassemia - intellectual deficit syndrome linked to chromosome 16
    hemoglobin pakse    autosomal dominant methemoglobinemia    hb bart's hydrops fetalis    neonatal anemia
    microcytic anemia    thalassemia    alpha-thalassemia/mental retardation syndrome    heinz body anemias
    hemoglobinopathy    hypochromic microcytic anemia    ivemark syndrome    vascular cancer
    hydrops fetalis    beta thalassemia    thalassemia minor    pyruvate kinase deficiency

    20/21 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

    HBA2 for disorders           About GeneDecksing

    10/29 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

    PubMed articles for HBA2 gene, integrated from 9 sources (see all 514):
    (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. (1980)
    2. Alpha globin gene numbers: an important modifier of H bE/beta thalassemia. (PubMed id 19843387)1, 4 Sharma V....Saxena R. (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. (2003)
    4. 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. (2000)
    5. 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. (1999)
    6. 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. (1998)
    7. 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. (1994)
    8. Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant. (PubMed id 8294199)1, 2 Wacjman H.... Galacteros F. (1993)
    9. A third quaternary structure of human hemoglobin A at 1.7-A resolution. (PubMed id 1512262)1, 2 Silva M.M.... Arnone A. (1992)
    10. A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys-->Glu beta 2, found in a Japanese family. (PubMed id 1634363)1, 2 Orisaka M.... Imai K. (1992)

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

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/HBA1
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBA2
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1
    Wikipedia http://en.wikipedia.org/wiki/Hemoglobin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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