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HBG2 Gene

protein-coding   GIFtS: 60
GCID: GC11M005274

Hemoglobin, Gamma G

Microbiology & Infectious Diseases Congress
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(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, Gamma G1 2     G-Gamma Globin Paulinia2
Hb F Ggamma2 3     gamma-2-globin2
Hemoglobin Gamma-2 Chain2 3     Hemoglobin Subunit Gamma-22
Hemoglobin Gamma-G Chain2 3     methemoglobin2
TNCY2 5     Gamma-2-globin3
Abnormal Hemoglobin2     

External Ids:    HGNC: 48321   Entrez Gene: 30482   Ensembl: ENSG000001965657   OMIM: 1422505   UniProtKB: P698923   

Export aliases for HBG2 gene to outside databases

Previous GC identifers: GC11M006018 GC11M005572 GC11M005229 GC11M005216 GC11M005235 GC11M005230 GC11M004934


(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 HBG2 Gene:
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)

GeneCards Summary for HBG2 Gene:
HBG2 (hemoglobin, gamma G) is a protein-coding gene. Diseases associated with HBG2 include cyanosis, transient neonatal, and sulfhemoglobinemia. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBE1.

UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892
Function: Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

Gene Wiki entry for HBG2 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:
NC_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the HBG2 gene promoter:
         TBP   TFIID   c-Myb   HNF-4alpha1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HBG2 promoter sequence
   Search Chromatin IP Primers for HBG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HBG2


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

HBG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBG2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005274:  view genomic region     (about GC identifiers)

Start:
5,274,420 bp from pter      End:
5,667,019 bp from pter
Size:
392,600 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892 (See protein sequence)
Recommended Name: Hemoglobin subunit gamma-2  
Size: 147 amino acids; 16126 Da
Subunit: Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F)
Developmental stage: Expressed until four or five weeks after birth
Sequence caution: Sequence=AAB50159.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for HBG2:
1FDH (3D)        4MQJ (3D)        4MQK (3D)    
Secondary accessions: A8MZE0 P02096 P62027 Q14491 Q68NH9 Q96FH6 Q96FH7

Explore the universe of human proteins at neXtProt for HBG2: NX_P69892

Explore proteomics data for HBG2 at MOPED

Post-translational modifications: 

  • Acetylation of Gly-2 converts Hb F to the minor Hb F11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HBG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000175.1  
    ENSEMBL proteins: 
     ENSP00000369602   ENSP00000369609   ENSP00000390765   ENSP00000338082  
    Reactome Protein details: P69892

    HBG2 Human Recombinant Protein Products:

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    Novus Biologicals HBG2 Protein
    Novus Biologicals HBG2 Lysate
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    ProSpec Recombinant Protein for HBG2
    Browse Proteins at Cloud-Clone Corp.

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    HBG2 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


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

    Graphical View of Domain Structure for InterPro Entry P69892

    ProtoNet protein and cluster: P69892

    2 Blocks protein domains:
    IPB001032 Leghaemoglobin
    IPB002337 Beta haemoglobin signature


    UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892
    Similarity: Belongs to the globin family


    HBG2 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: HBG2_HUMAN, P69892
    Function: Gamma chains make up the fetal hemoglobin F, in combination with alpha chains

         Genatlas biochemistry entry for HBG2:
    globin,gamma G,fetal (G 136)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005344oxygen transporter activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0019825oxygen binding IEA--
    GO:0020037heme binding IEA--
         
    HBG2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HBG2:
     Increased G2M DNA content, inc 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HBG2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HBG2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HBG2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HBG2

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    Predesigned siRNA for gene silencing in human, mouse, rat HBG2

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBG2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBG2


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

    CompartmentConfidence
    cytosol4
    nucleus2
    plasma membrane2
    extracellular1

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

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

    HBG2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HBG2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1p70S6K Signaling
    p70S6K Signaling0.60
    2Hemostasis
    Hemostasis0.43
    3ErbB4 Pathway
    IL-4 Pathway0.34
    4Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HBG2
        p70S6K Signaling
    IL-4 Pathway

    1 Reactome Pathway for HBG2
        Factors involved in megakaryocyte development and platelet production



    HBG2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HBG2
    Interactions:

        Search GeneGlobe Interaction Network for HBG2

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

    Selected Interacting proteins for HBG2 (P698922, 3 ENSP000003380824) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HBA1P699052, 3, ENSP000003224214MINT-24785 I2D: score=2 STRING: ENSP00000322421
    HBA2P699052, 3, ENSP000002515954MINT-24785 I2D: score=2 STRING: ENSP00000251595
    CYB5R3P003873, ENSP000003384614I2D: score=1 STRING: ENSP00000338461
    HBBP688713, ENSP000003339944I2D: score=1 STRING: ENSP00000333994
    SMAD5Q997173I2D: score=3 
    About this table

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

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

    HBG2 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for HBG2

    2 HMDB Compounds for HBG2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    OxygenOxygen (see all 5)7782-44-7--

    Selected Novoseek inferred chemical compound relationships for HBG2 gene (see all 104)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    benzocaine 86.9 18 8644973 (2), 16382850 (2), 8092589 (2), 1601230 (1) (see all 13)
    methylene 77.3 49 10397228 (5), 15753496 (2), 14647658 (2), 9776968 (2) (see all 32)
    sodium nitrite 75.3 19 8956097 (2), 2093192 (1), 17065881 (1), 2254586 (1) (see all 17)
    oxygen 71.5 141 10956082 (3), 14632342 (2), 15753496 (2), 16517943 (2) (see all 99)
    n,n-dimethylhydroxylamine 71.5 1 2156749 (1)
    sulofenur 70.3 5 1433369 (2), 1676639 (1), 14654534 (1)
    no-dimethylhydroxylamine 69.3 1 11042038 (1)
    phenazopyridine 67.4 1 12901999 (1)
    nitric oxide 66.7 149 12536266 (6), 10809266 (5), 2093192 (4), 9681784 (4) (see all 76)
    dapsone 66.7 12 19998329 (3), 14647658 (2), 7931458 (2), 16794511 (1) (see all 8)



    HBG2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HBG2 gene: 
    NM_000184.2  

    Unigene Cluster for HBG2:

    Hemoglobin, gamma G
    Hs.302145  [show with all ESTs]
    Unigene Representative Sequence: DQ656066
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380252 ENST00000380259(uc001mai.1 uc001maj.1 uc001mak.1)
    ENST00000444587 ENST00000336906
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat HBG2
      QuantiFast Probe-based Assays in human, mouse, rat HBG2

    Additional mRNA sequence: 

    AF110493.1 AK290492.1 BC029387.1 BC130457.1 BC130459.1 DQ656066.1 DQ656067.1 M11427.1 
    M15386.1 X55656.1 X55657.1 

    Selected DOTS entries (see all 40):

    DT.95186195  DT.95221675  DT.98083189  DT.91786228  DT.100890392  DT.95371917  DT.95298167  DT.75131589 
    DT.95230852  DT.100044348  DT.95180915  DT.100806001  DT.120723250  DT.100774732  DT.91866943  DT.91790886 
    DT.95092533  DT.87014143  DT.95323075  DT.95124981  DT.101983809  DT.120723406  DT.95102656  DT.99999120 

    Selected AceView cDNA sequences (see all 50):

    CR593022 CR604223 CR626466 CR607395 NM_000184 CR615907 CR613883 CR619706 
    CR622267 X55657 CR595535 CR626417 CR593470 CR613701 CR625875 CR609361 
    CR602719 CR593357 CR593826 CR594576 NM_000559 CR614139 CR595029 CR603041 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to 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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    HBG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HBG2 Expression
    About this image

    HBG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HBG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.302145

    UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892
    Tissue specificity: Red blood cells

        Custom PCR Arrays for HBG2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBG2

    (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 HBG2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hbb-y1 hemoglobin Y, beta-like embryonic chain 80.73(n)
    76.19(a)
      15135  NM_008221.4  NP_032247.1 
    chicken
    (Gallus gallus)
    Aves HBB6
    HBE16
    (see all 4)
    Gallus gallus hemoglobin, epsilon 1 (HBE1), mRNA.
    (see all 4)
    70(a)
    69(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    1(193723743-193726040) ENSGALG00000028273
    1(193720895-193722856) ENSGALG00000022703
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    62(a)
    1 → many
    GL344018.1(38428-41710)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1000379011 uncharacterized LOC100037901 63.27(n)
    61.22(a)
      100037901  NM_001097335.1  NP_001090804.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hbaa16
    hbaa16
    (see all 8)
    hemoglobin alpha adult-1
    (see all 8)
    42(a)
    42(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    3(55951717-55952608) ENSDARG00000097011
    3(55951832-55957638) ENSDARG00000079078


    ENSEMBL Gene Tree for HBG2 (if available)
    TreeFam Gene Tree for HBG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HBG2 gene
    HBE12  HBZ2  HBG12  HBD2  HBA22  HBB2  HBQ12  HBA12  
    HBM2  
    13 SIMAP similar genes for HBG2 using alignment to 9 protein entries:     HBG2_HUMAN (see all proteins):
    HBG1    G-gamma    HBD/HBB    HBE1    HBD    HBB
    HBA2    HBA1    HBZ    HBM    HBQ1    CYGB
    MB

    HBG2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HBG2
    PGOHUM00000242142


    (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 HBG2 (see all 252)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs351034591,2,,4
    CCyanosis transient neonatal (TNCY)4 pathogenic15189814(-) AACTGC/TACTGT 2 H Y mis10--------
    VAR_0031544
    Cyanosis transient neonatal (TNCY)4--see VAR_0031542 H Y mis40--------
    VAR_0659504
    Cyanosis transient neonatal (TNCY)4--see VAR_0659502 V M mis40--------
    VAR_0253364
    Cyanosis transient neonatal (TNCY)4--see VAR_0253362 H L mis40--------
    VAR_0031464
    Cyanosis transient neonatal (TNCY)4--see VAR_0031462 F S mis40--------
    rs344741041,2
    Cpathogenic15189901(-) AGGCAC/TATGGC 2 H Y mis10--------
    rs348789131,2
    Cpathogenic15189966(-) GAGGTC/TCTTTG 2 S F mis10--------
    rs637506541,2
    Cpathogenic15190440(-) GCAAAC/TATCTG 1 -- us2k10--------
    rs356179111,2
    Cpathogenic15190467(-) GGGGCC/GCCTTC 1 -- us2k10--------
    rs2818645751,2
    Cuntested15188765(-) ATACCA/GCTGAG 2 H R mis10--------

    HapMap Linkage Disequilibrium report for HBG2 (5274420 - 5524420 bp, first 250kb of HBG2)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for HBG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2648523CNV Deletion19546169
    esv2744059CNV Deletion23290073
    esv2671356CNV Deletion23128226
    esv5471CNV Loss19470904
    nsv896930CNV Gain21882294
    dgv194n67CNV Gain20364138

    Human Gene Mutation Database (HGMD): HBG2
    Locus Specific Mutation Databases (LSDB): HBG2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 142250   
    OMIM disorders: 141749  613977  
    UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892
  • Cyanosis transient neonatal (TNCY) [MIM:613977]: A disorder characterized by cyanosis in the fetus and
    neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients
    develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The
    cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced
    and replaces the fetal gamma-globin chain. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for HBG2 (see all 84):    About MalaCards
    cyanosis, transient neonatal    sulfhemoglobinemia    subependymoma    hereditary persistence of fetal hemoglobin - sickle cell disease
    congenital methemoglobinemia    fetal hemoglobin quantitative trait locus 1    beta thalassemia    methemoglobinemia
    cavernous hemangioma    congenital hemolytic anemia    hemoglobin s beta-thalassemia    status asthmaticus
    hereditary persistence of fetal hemoglobin    thalassemia    iron deficiency anemia    deficiency anemia
    plasmodium vivax malaria    reye syndrome    sickle cell disease    alpha thalassemia

    3 diseases from the University of Copenhagen DISEASES database for HBG2:
    Thalassemia     Sickle cell anemia     Anemia

    HBG2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for HBG2 gene (see all 61)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methemoglobinemia 96.3 48 14647658 (2), 9298047 (2), 7931458 (2), 8363684 (1) (see all 38)
    methemoglobinemia acquired 92.4 2 15342970 (1), 10870338 (1)
    sulfhemoglobinemia 81.9 1 15886294 (1)
    methemoglobinemia hereditary 80.6 1 8657061 (1)
    hemolysis 70.7 28 19135990 (2), 18702879 (2), 7679879 (1), 8090078 (1) (see all 20)
    g6pd deficiency 67.6 5 9523930 (2), 19726375 (1), 1523481 (1)
    hypertension pulmonary 52.7 4 12161242 (1), 11969358 (1), 8771498 (1), 9233741 (1)
    poisoning 51.1 17 8353957 (1), 15208879 (1), 17145698 (1), 2067134 (1) (see all 14)
    sickle cell disease 50.7 3 2393709 (1), 9545536 (1), 18667698 (1)
    anemia hemolytic 48.1 3 12006477 (1), 16132702 (1), 14654534 (1)

    Genetic Association Database (GAD): HBG2
    Human Genome Epidemiology (HuGE) Navigator: HBG2 (7 documents)

    Export disorders for HBG2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HBG2 gene, integrated from 10 sources (see all 757):
    (articles sorted by number of sources associating them with HBG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. (PubMed id 18667698)1, 4, 9 Lettre G....Orkin S.H. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    2. A hemoglobin variant associated with neonatal cyanosis and anemia. (PubMed id 21561349)1, 2 Crowley M.A.... Weiss M.J. (N. Engl. J. Med. 2011)
    3. The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients. (PubMed id 20472475)1, 4 Nguyen T.K....Francina A. (amp 2010)
    4. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. (PubMed id 18951049)1, 4 Nuntakarn L....Wiangnon S. (amp 2009)
    5. Variation and heritability of Hb F and F-cells among beta-thalassemia heterozygotes in Hong Kong. (PubMed id 18266208)1, 4 Gibney G.T....Chui D.H. (Am. J. Hematol. 2008)
    6. Molecular basis of thalassemia intermedia in Iran. (PubMed id 18932071)1, 4 Akbari M.T....Kleanthous M. (Hemoglobin 2008)
    7. Influence of Ggamma-158C --&gt; and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects. (PubMed id 16956833)1, 4 Guida V....Dallapiccola B. (Haematologica 2006)
    8. A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)Val-->Ala]. (PubMed id 16370494)1, 2 Lacan P.... Francina A. (Hemoglobin 2005)
    9. Severe hereditary haemolytic anaemia in a Caucasian newborn: a new fetal haemoglobin variant Hb F-Bonheiden ((G)gamma 38(C4) Thr-->Pro). (PubMed id 15645283)1, 2 Van den Driessche M.... Philippe M. (Eur. J. Pediatr. 2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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)
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    Entrez Gene: 3048 HGNC: 4832 AceView: HBG2andHBG1 Ensembl:ENSG00000196565 euGenes: HUgn3048
    ECgene: HBG2 H-InvDB: HBG2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HBG2 Pharmacogenomics, SNPs, Pathways
    HbVarhttp://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBG2

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HBG2 gene:
    Search GeneIP for patents involving HBG2

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



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