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

HBG1 Gene

protein-coding   GIFtS: 55
GCID: GC11M005271

hemoglobin, gamma A

 Explore 27 diseases affiliated with
HBG1 via our new
 Human Malady Compendium 
Biological research products
for HBG1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hemoglobin, Gamma A1 2     A-Gamma Globin2
Hb F Agamma2 3     Gamma A Hemoglobin2
Hemoglobin Gamma-1 Chain2 3     Gamma Globin2
Hemoglobin Gamma-A Chain2 3     Gamma-1-Globin1
HBGA2     Hemoglobin Subunit Gamma-12
HBGR2     Hemoglobin, Gamma, Regulator Of2
HSGGL12     Gamma-1-Globin1

External Ids:    HGNC: 48311   Entrez Gene: 30472   Ensembl: ENSG000002139347   OMIM: 1422005   UniProtKB: P698913   

Export aliases for HBG1 gene to outside databases

Previous GC identifers: GC11M006017 GC11M005571 GC11M005228 GC11M005215 GC11M005234 GC11M005226 GC11M004928


(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 HBG1:
The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma
chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin
(HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The
two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is
found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin
cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891
Function: Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

Gene Wiki entry for HBG1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HBG1 gene promoter:
         TBP   TFIID   c-Myb   STAT3   GATA-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HBG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBG1


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

HBG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBG1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005271:  view genomic region     (about GC identifiers)

Start:
5,269,313 bp from pter      End:
5,271,122 bp from pter
Size:
1,810 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891 (See protein sequence)
Recommended Name: Hemoglobin subunit gamma-1  
Size: 147 amino acids; 16140 Da
Subunit: Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F). In the case of deletions
affecting one or more of the alpha chains the excess gamma chains form homotetramers that exhibit neither Bohr effect
nor heme-heme cooperativity (hemoglobin Bart's)
Developmental stage: Expressed until four or five weeks after birth
2 PDB 3D structures from and Proteopedia for HBG1:
1I3D (3D)        1I3E (3D)    
Secondary accessions: P02096 P62027 Q549G1 Q8TDA1 Q96FH7

Explore the universe of human proteins at neXtProt for HBG1: NX_P69891

Post-translational modifications:

  • Acetylation of Gly-2 converts Hb F to the minor Hb F11
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P69891

  • HBG1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000550.2  
    ENSEMBL proteins: 
     ENSP00000327431  
    Reactome Protein details: P69891
    Human Recombinant Protein Products: 
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    Novus Biologicals HBG1 Lysates
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005833hemoglobin complex IEA--


    HBG1 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


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

    HBG1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR012292 Globin_dom
     IPR009050 Globin-like
     IPR000971 Globin
     IPR002337 Haemoglobin_b

    Graphical View of Domain Structure for InterPro Entry P69891

    ProtoNet protein and cluster: P69891

    2 Blocks protein families:
    IPB001032 Leghaemoglobin
    IPB002337 Beta haemoglobin signature


    UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891
    Similarity: Belongs to the globin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891
    Function: Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

         Genatlas biochemistry entry for HBG1:
    globin,gamma A,fetal (A 136)

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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--


    HBG1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Hbb-bh1Hbb-tm1Fier for HBG1
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Hbb-bh1):
     normal 

    HBG1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Expression of globin genes under control of the beta globin control region
    Expression of globin genes under control of the beta globin control region1.00
    2Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production1.00
    3p70S6K Signaling
    p70S6K Signaling1.00
    4Platelet activation, signaling and aggregation
    Hemostasis0.43
    5ErbB4 Pathway
    IL-4 Pathway0.28

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HBG1
        p70S6K Signaling
    IL-4 Pathway

    3        Reactome Pathways for HBG1
        Hemostasis
    Factors involved in megakaryocyte development and platelet production
    Expression of globin genes under control of the beta globin control region



    HBG1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HBG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for HBG1 (P698913 ENSP000003274314) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL2P605203, ENSP000000372434I2D: score=2 STRING: ENSP00000037243
    AHSPENSP000003071994STRING: ENSP00000307199
    CYB5R3ENSP000003384614STRING: ENSP00000338461
    HBA1ENSP000003224214STRING: ENSP00000322421
    HBA2ENSP000002515954STRING: ENSP00000251595
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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


    HBG1 for ontologies           About GeneDecksing



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

    HBG1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HBG1

    1 HMDB Compound for HBG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    1 DrugBank Compound for HBG1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Heme-- --target--17139284 17016423 10592235

    10/29 Novoseek chemical compound relationships for HBG1 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aclacinomycin 79.7 2 8853898 (1), 8602880 (1)
    butyrate 77.8 28 9292546 (3), 7529873 (1), 14594506 (1), 18549621 (1) (see all 21)
    hydroxyurea 69.2 13 15985540 (2), 9668530 (1), 19657070 (1), 19914848 (1) (see all 8)
    alpha-aminobutyric acid 68.9 3 7527673 (1), 8704217 (1)
    benzidine 68.7 6 17957275 (1), 17355941 (1)
    isobutyramide 67.4 2 10575551 (1)
    porphobilinogen 59 7 9305615 (2), 8639908 (1), 14757314 (1), 8853898 (1) (see all 6)
    azathioprine 48.9 4 14594506 (1), 7527673 (1), 16608912 (1), 16131492 (1)
    aclarubicin 48.9 1 10449186 (1)
    phenylbutyrate 48.9 5 9668530 (1), 8937430 (1), 12393583 (1)

    Search CenterWatch for drugs/clinical trials and news about HBG1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HBG1 gene: 
    NM_000559.2  

    Unigene Cluster for HBG1:

    Hemoglobin, gamma A
    Hs.702189  [show with all ESTs]
    Unigene Representative Sequence: BI909241
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000330597(uc001mah.1)

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    Additional cDNA sequence: 

    BC010913.1 BC010914.1 BC020719.1 V00512.1 X55655.1 

    24/27 DOTS entries (see all 27):

    DT.95186195  DT.95221675  DT.98083189  DT.91786228  DT.100774732  DT.95180915  DT.120723250  DT.95371917 
    DT.91866943  DT.75131589  DT.91790886  DT.95230852  DT.100890392  DT.100044348  DT.95298167  DT.95323075 
    DT.120723406  DT.95233683  DT.100806001  DT.87014143  DT.95345553  DT.95092533  DT.92413533  DT.120723246 

    24/50 AceView cDNA sequences (see all 50):

    CR595029 CR593357 CR602719 CR614139 CR607395 CR609361 X55657 CR615907 
    CR622267 CR625875 CR613883 CR613701 CR603041 CR594576 CR593022 CR619706 
    CR626466 CR593826 CR599317 CR626417 CR602897 CR610392 NM_000184 NM_000559 

    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™, 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

    HBG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGCAGAGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    HBG1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12
    Tissue Anatomical Compartment CellCategory (developmental path)
    Primitive StreakPosterior Primitive StreakHemangioblastsBlood, Endothelium
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    LimbZeugopodPrechondrocytic Mesenchymal CellsBone, Cartilage
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Skeletal MuscleHyoid Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    KidneyMetanephrosKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See HBG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HBG1

    SOURCE GeneReport for Unigene cluster: Hs.702189

    UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891
    Tissue specificity: Red blood cells

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBG1

    (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 HBG1 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HBRH_CHICK6
    F1N9X2_CHICK6
    (see all 3)
    Uncharacterized protein
    (see all 3)
    69(a)
    68(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    1(199433573-199442026)
    1(199436878-199438103)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    62(a)
    1 → many
    GL344018.1(38428-41710)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:928806
    hbbe26
    (see all 7)
    hemoglobin beta embryonic-2
    (see all 7)
    56(a)
    52(a)
    (see all 7)
    possible ortholog
    possible ortholog
    (see all 7)
    3(55942977-55943592)
    12(21702358-21703122)


    ENSEMBL Gene Tree for HBG1 (if available)
    TreeFam Gene Tree for HBG1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HBG1 gene
    HBG22  HBE12  CYGB2  HBZ2  HBD2  HBA22  HBB2  HBQ12  
    HBA12  HBM2  
    13 SIMAP similar genes for HBG1 using alignment to 4 protein entries:     HBG1_HUMAN (see all proteins):
    HBG2    G-gamma    HBD/HBB    HBE1    HBD    HBB
    HBZ    HBA1    HBA2    HBM    HBQ1    CYGB
    MB

    HBG1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/192 NCBI SNPs in HBG1 are shown (see all 192    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2818606011,2
    Cpathogenic4930371(-) TTGACC/TAATAG 1 -- us2k10--------
    rs353789151,2
    Cpathogenic4930374(-) GCCTTA/GACCAA 1 -- us2k10--------
    rs353219131,2
    Cpathogenic4930452(-) CTTCCC/GCACAC 1 -- us2k10--------
    rs359832581,2
    Cpathogenic4930453(-) CCTTCC/TCCACA 1 -- us2k10--------
    rs357107271,2
    Cpathogenic4930455(-) CCCCTC/TCCCCA 1 -- us2k10--------
    rs562056111,2
    C,,untested4928793(-) GACTGC/GAGTGG 2 A G mis10--------
    rs346989071,2
    Cuntested4930133(-) AAGAT-/GCTGGAGG 1 -- cds10--------
    rs339248251,2
    Cuntested4930186(-) CAGAGA/C/GAGGAC 3 K Q E mis10--------
    rs413221481,2
    Cuntested4930415(-) ACGGTC/TCCTGG 1 -- us2k10--------
    rs341539021,2
    Cuntested4930432(-) GCAAAC/TATCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HBG1 (5269313 - 5271122 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for HBG1
         3 CNVs: 75527 101115 61094
    Human Gene Mutation Database (HGMD): HBG1

    Locus Specific Mutation Databases (LSDB): HBG1

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    (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

    HBG1 for disorders           About GeneDecksing

    OMIM gene information: 142200   
    OMIM disorders: 141749  
    20/27 diseases for HBG1 (see all 27):    About MalaCards
    beta thalassemia    fetal hemoglobin quantitative trait locus 1    thalassemia    hereditary persistence of fetal hemoglobin
    hemoglobin s beta-thalassemia    alpha thalassemia    juvenile myelomonocytic leukemia    hemolytic anemia
    congenital hemolytic anemia    sickle cell disease    hereditary spherocytosis    myelomonocytic leukemia
    spherocytosis    hemoglobinopathy    sickle cell anemia    hpfh
    acute lymphoblastic leukemia    anemia    lymphoblastic leukemia    diabetes mellitus

    3 diseases from the University of Copenhagen DISEASES database for HBG1:
    Gastroenteritis     Thalassemia     Hemoglobinopathy

    10/14 Novoseek disease relationships for HBG1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 83.5 7 2217202 (1), 8400240 (1), 11162141 (1), 7686501 (1) (see all 7)
    beta-thalassemia 83.4 24 16814578 (2), 7703040 (2), 10699179 (1), 10975440 (1) (see all 19)
    hemoglobinopathies 82.4 7 17699975 (1), 19958193 (1), 7579419 (1), 16814578 (1) (see all 6)
    sickle cell disease 80 13 12200360 (1), 16378095 (1), 17612629 (1), 11063260 (1) (see all 12)
    thalassemia 73.8 6 12200360 (1), 15534853 (1), 16787871 (1), 16338486 (1) (see all 6)
    alpha-thalassemia 60.4 3 7703040 (2), 18076350 (1)
    sickle cell trait 42.5 1 16683895 (1)
    anemia 40.2 2 10688844 (1), 9857233 (1)
    anemia severe 24.6 1 15931385 (1)
    hemolysis 20.7 3 16728274 (1)

    Human Genome Epidemiology (HuGE) Navigator: HBG1 (3 documents)

    Export disorders for HBG1 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 HBG1 gene, integrated from 9 sources (see all 358):
    (articles sorted by number of sources associating them with HBG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. Oligomerization and ligand binding in a homotetrameric hemoglobin: two high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a marker for alpha-thalassemia. (PubMed id 11514664)1, 2 Kidd R.D.... Baker E.N. (2001)
    3. Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His-->Gln. (PubMed id 7928382)1, 2 Plaseska D.... Efremov G.D. (1994)
    4. Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations. (PubMed id 1802881)1, 2 Huisman T.H.J.... Gu L.H. (1991)
    5. Hb F-Jiangsu, the first gamma chain variant with a valine->methionine substitution: alpha 2A gamma 2 134(H12)Val->Met. (PubMed id 1703137)1, 2 Plaseska D....Huisman T.H.J. (1990)
    6. A review of the molecular genetics of the human alpha-globin gene cluster. (PubMed id 2649166)1, 3 Higgs D.R....Weatherall D.J. (1989)
    7. Hb F-Fukuyama or A gamma T43(CD2)Asp-->Asn. (PubMed id 2467893)1, 2 Hidaka K.... Iwakawa G. (1989)
    8. Hb F-Baskent or alpha 2A gamma 128(H6)Ala-->Thr. (PubMed id 2454900)1, 2 Altay C....Huisman T.H.J. (1988)
    9. Hb F-Xin-Su or A gamma I73(E17)Asp-->His: a new slow-moving fetal hemoglobin variant. (PubMed id 2448269)1, 2 Ma M.... Huisman T.H.J. (1987)
    10. Hb F-Xinjiang or A gamma T25(B7)Gly-->Arg: a new slow-moving unstable fetal hemoglobin variant. (PubMed id 2448268)1, 2 Hu H. and Ma M. (1987)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3047 HGNC: 4831 AceView: HBG2andHBG1 Ensembl:ENSG00000213934 euGenes: HUgn3047
    ECgene: HBG1 H-InvDB: HBG1

    (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 HBG1 Pharmacogenomics, SNPs, Pathways
    HbVarhttp://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBG1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HBG1 gene:
    Search GeneIP for patents involving HBG1

    GeneCards and IP:
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