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

GBX2 Gene

protein-coding   GIFtS: 56
GCID: GC02M237090

Gastrulation Brain Homeobox 2

(Previous name: gastrulation brain homeo box 2)
  See related diseases
at  

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

Aliases
Gastrulation Brain Homeobox 21 2
Gastrulation Brain Homeo Box 21 2
Gastrulation And Brain-Specific Homeobox Protein 22 3
Homeobox Protein GBX-22

External Ids:    HGNC: 41861   Entrez Gene: 26372   Ensembl: ENSG000001685057   OMIM: 6011355   UniProtKB: P529513   

Export aliases for GBX2 gene to outside databases

Previous GC identifers: GC02M235112 GC02M235755 GC02M237361 GC02M236856 GC02M236739 GC02M228868


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

GeneCards Summary for GBX2 Gene: 
GBX2 (gastrulation brain homeobox 2) is a protein-coding gene. Diseases associated with GBX2 include blindness, and prostate cancer. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MNX1.

UniProtKB/Swiss-Prot: GBX2_HUMAN, P52951
Function: May act as a transcription factor for cell pluripotency and differentiation in the embryo

Gene Wiki entry for GBX2 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_000002.11  NT_005120.16  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GBX2 gene promoter:
         ER-alpha   E2F-4   E2F-3a   E2F-5   E2F-2   MEF-2A   Max   E2F   E2F-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGBX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GBX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GBX2


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

Entrez Gene cytogenetic band: 2q37.2   Ensembl cytogenetic band:  2q37.2   HGNC cytogenetic band: 2q37.2

GBX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBX2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M237090:  view genomic region     (about GC identifiers)

Start:
237,073,879 bp from pter      End:
237,077,012 bp from pter
Size:
3,134 bases      Orientation:
minus 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: GBX2_HUMAN, P52951 (See protein sequence)
Recommended Name: Homeobox protein GBX-2  
Size: 348 amino acids; 37348 Da
Subcellular location: Nucleus (Probable)
Secondary accessions: B2RPH7 O43833 Q53RX5 Q9Y5Y1

Explore the universe of human proteins at neXtProt for GBX2: NX_P52951

Explore proteomics data for GBX2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P52951

  • GBX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GBX2 Protein Expression
    REFSEQ proteins: NP_001476.2  
    ENSEMBL proteins: 
     ENSP00000302251   ENSP00000448747  

    Human Recombinant Protein Products for GBX2: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for GBX2
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for GBX2
    GenScript Custom Purified and Recombinant Proteins Services for GBX2
    Novus Biologicals GBX2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GBX2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    GBX2 for ontologies           About GeneDecksing



    GBX2 Antibody Products: 
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    Novus Biologicals GBX2 Antibodies
    Abcam antibodies for GBX2
    Cloud-Clone Corp. Antibodies for GBX2 
    ThermoFisher Antibodies for GBX2
    LSBio Antibodies in human, mouse, rat for GBX2 

    Assay Products for GBX2: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GBX2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GBX2 
    Cloud-Clone Corp. CLIAs for GBX2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HOXL: Homeoboxes / ANTP class : HOXL subclass

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P52951

    ProtoNet protein and cluster: P52951

    UniProtKB/Swiss-Prot: GBX2_HUMAN, P52951
    Similarity: Contains 1 homeobox DNA-binding domain


    GBX2 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: GBX2_HUMAN, P52951
    Function: May act as a transcription factor for cell pluripotency and differentiation in the embryo

         Genatlas biochemistry entry for GBX2:
    mouse telencephalon expressed Gbx homolog 2,gastrulation and brain specific-1,homeo domain encoding gene

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    GBX2 for ontologies           About GeneDecksing


    Phenotypes:
         15/18 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Gbx2) (see all 18):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  nervous system  no phenotypic analysis  normal  respiratory system 

    GBX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GBX2: Gbx2tm1.2Alj Gbx2tm1.1Mrt

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GBX2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GBX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GBX2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GBX2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GBX2
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate GBX2:
    hsa-miR-520d-5p hsa-miR-374b hsa-miR-524-5p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidGBX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GBX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GBX2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GBX2
    Sirion Biotech Customized adenovirus for overexpression of GBX2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for GBX2 (see all 6)
    OriGene ORF clones in mouse, rat for GBX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GBX2 (NM_001485)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBX2
    Sirion Biotech Customized lentivirus for stable overexpression of GBX2 
                         Customized lentivirus expression plasmids for stable overexpression of GBX2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GBX2
    Search LifeMap BioReagents cell lines for GBX2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBX2


    (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 GBX2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    2Neural Crest Differentiation
    Neural Crest Differentiation
    3Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GBX2
        Transcription factors in neurogenesis

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GBX2
        Transcriptional Regulatory Network in Embryonic Stem Cell

    1 BioSystems Pathway for GBX2
        Neural Crest Differentiation



    GBX2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GBX2

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001569patterning of blood vessels IEA--
    GO:0001755neural crest cell migration IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007399nervous system development TAS8838315

    GBX2 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

    GBX2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for GBX2

    1 Novoseek inferred chemical compound relationship for GBX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alar 57 1 11689282 (1)

    Search CenterWatch for drugs/clinical trials and news about GBX2

    (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 GBX2 gene: 
    NM_001485.2  

    Unigene Cluster for GBX2:

    Gastrulation brain homeobox 2
    Hs.184945  [show with all ESTs]
    Unigene Representative Sequence: NM_001485
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306318(uc002vvw.1 uc010zng.1) ENST00000551105 ENST00000465889

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GBX2
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate GBX2:
    hsa-miR-520d-5p hsa-miR-374b hsa-miR-524-5p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidGBX2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GBX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GBX2
    Clone
    Products:
         
    OriGene clones in human, mouse for GBX2 (see all 6)
    OriGene ORF clones in mouse, rat for GBX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GBX2 (NM_001485)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBX2
    Sirion Biotech Customized lentivirus for stable overexpression of GBX2 
                         Customized lentivirus expression plasmids for stable overexpression of GBX2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for GBX2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GBX2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GBX2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GBX2

    Additional mRNA sequence: 

    AF118452.1 AK311262.1 BC137448.1 BC137449.1 BC144646.1 

    3 DOTS entries:

    DT.434131  DT.100011563  DT.40120503 

    14 AceView cDNA sequences:

    BM747801 AF118452 BF115559 NM_001485 BG827869 CD611885 BM747771 BE463746 
    AA933790 BX094347 CD611886 CD611889 AA176205 AA305563 

    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

    GBX2 expression in normal human tissues (normalized intensities)      GBX2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGACTCCA
    GBX2 Expression
    About this image


    GBX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Isthmus Cells Neural Plate
             Telencephalon
     
     Neural Ectoderm (Nervous System)    fully expand to see all 3 entries
             Isthmus Cells Neural Plate
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Bone (Muscoskeletal System)
             Mandibular Process

    See GBX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GBX2

    SOURCE GeneReport for Unigene cluster: Hs.184945
        SABiosciences Expression via Pathway-Focused PCR Arrays including GBX2: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GBX2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBX2

    (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 animals.

    Orthologs for GBX2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gbx21 , 5 gastrulation brain homeobox 21, 5 92.05(n)1
    98.28(a)1
      1 (45.06 cM)5
    144721  NM_010262.31  NP_034392.11 
     899279625 
    chicken
    (Gallus gallus)
    Aves GBX21 gastrulation brain homeobox 2 78.64(n)
    78.64(a)
      395950  NM_205068.1  NP_990399.1 
    lizard
    (Anolis carolinensis)
    Reptilia GBX26
    Uncharacterized protein
    71(a)
    1 ↔ 1
    1(119835491-119838572)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978242 homeobox protein Xgbx-2 76.98(n)    U04867.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gbx22 gastrulation brain homeo box 2 78.22(n)   245948  AB075028.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unpg3 RNA polymerase II transcription factor 78(a)   2 45B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-126
    ceh-626
    Uncharacterized homeobox protein R06F6.6
    30(a)
    11(a)
    possible ortholog
    possible ortholog
    I(5840289-5841888)
    II(10805394-10809992)


    ENSEMBL Gene Tree for GBX2 (if available)
    TreeFam Gene Tree for GBX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GBX2 gene
    MNX12  EVX12  MEOX12  GBX12  EVX22  MEOX22  
    4 SIMAP similar genes for GBX2 using alignment to 2 protein entries:     GBX2_HUMAN (see all proteins):
    HMX2    HHEX    HLX    GBX1

    GBX2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) 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

    36/105 SNPs in GBX2 are shown (see all 105)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs102023971,2
    C,F--237073817(+) TTGCCC/TGGCCA 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs67050371,2
    C,F,A--237073819(+) GCCCGG/ACCACA 1 -- ds50018Minor allele frequency- A:0.43WA NA CSA EA 367
    rs1114906311,2
    C,F--237073889(+) CTTTTC/TCCCCC 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs42920471,2
    C,F,H--237073897(+) CCCCCT/CCTCTC 1 -- ds50019Minor allele frequency- C:0.12NS NA CSA WA 1187
    rs672526821,2
    C--237073897(+) CCCCC-/TCTCTC 1 -- ds50010--------
    rs1380875931,2
    C--237074047(+) AGGCA-/AAAGC 
            
    AAAGC
    1 -- ds50010--------
    rs1162910981,2
    C,F--237074487(+) GTGGAG/ATCCAC 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs2007729231,2
    --237074513(+) GTGCGA/GGGGCT 1 -- ut310--------
    rs1494793961,2
    C--237074537(+) GCCAGG/ACCCTG 1 -- ut311Minor allele frequency- A:0.00EU 1235
    rs1146938931,2
    C,F--237074635(+) ACGACG/AATCTT 2 /I syn13Minor allele frequency- A:0.01NA EU 5995
    rs1997512191,2
    --237074704(+) CACTTA/GGCCCG 2 A syn10--------
    rs2018683701,2
    --237074713(+) CGTCGA/GTTCTG 2 N syn10--------
    rs75880691,2
    C,F--237074827(+) TCCAGC/TAGCTG 2 L syn1 ese33Minor allele frequency- T:0.03NS WA NA 4518
    rs2014078961,2
    --237074872(+) TTGCCC/GGTAGA 2 T syn10--------
    rs2007915221,2
    --237074873(+) TGCCCA/GTAGAC 2 T M mis10--------
    rs2016743561,2
    C--237074895(+) CGCGGC/TGCCGC 2 T A mis10--------
    rs2021523491,2
    --237074919(+) CTCCTC/TCAGCG 2 K E mis10--------
    rs1135499351,2
    C,F--237075031(+) TTCGGG/ATCGTC 2 /D syn13Minor allele frequency- A:0.01NA EU 5875
    rs1816871591,2
    --237075146(+) CCCACC/TGTCAT 1 -- int10--------
    rs1386844521,2
    C--237075372(+) GCGTC-/AGGAGAAG 1 -- int10--------
    rs67099431,2
    C,F,H--237075429(+) GGGTGG/AGGACT 1 -- int110Minor allele frequency- A:0.08NS EA NA WA 1302
    rs1860326261,2
    --237075488(+) ACCATA/GAAAAT 1 -- int10--------
    rs1408881581,2
    --237075560(+) CATCTG/TTTTTG 1 -- int10--------
    rs1904910171,2
    --237075662(+) CAGTCC/GGTTTC 1 -- int10--------
    rs1432266351,2
    C--237075966(+) CCTCCA/TGCTCC 1 -- int10--------
    rs102091961,2
    C--237075973(+) CTCCTC/ACCGCG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1121862401,2
    C,F--237076096(-) GCTTCG/CCTCGG 2 /S syn11Minor allele frequency- C:0.13EU 451
    rs1834569961,2
    C--237076209(+) GTTACC/GGCCGC 2 R G mis10--------
    rs2010416341,2
    --237076211(+) TACCGA/CCGCCG 2 G V mis10--------
    rs792855911,2
    C,F--237076255(+) GCCGCC/GTCCTG 2 D E mis11Minor allele frequency- G:0.07WA 118
    rs2004043991,2
    C--237076410(+) CAGCGA/CGGCCT 2 A S mis10--------
    rs1401961771,2
    --237076795(+) AGGGGA/GTGTGC 1 -- us2k10--------
    rs2022017921,2
    --237076929(+) AGCTG-/CCG   
       TCCGT
    CCGTC
    1 -- us2k10--------
    rs1388522441,2
    C--237076943(+) CGTCC-/GTC   
       CGTCT
    GTCCC
    1 -- us2k10--------
    rs1152509491,2
    F--237076993(+) AAGCCG/AGCGTA 1 -- us2k11Minor allele frequency- A:0.13NA 120
    rs608749831,2
    C--237077180(+) CGAGCG/TGGCTG 1 -- us2k14Minor allele frequency- T:0.25CSA WA NA EA 360

    HapMap Linkage Disequilibrium report for GBX2 (237073879 - 237077012 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for GBX2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv33938CNV Loss17666407
    dgv4456n71CNV Loss21882294
    nsv876036CNV Loss21882294
    nsv525913CNV Loss19592680
    nsv821923CNV Gain20364138
    nsv821924CNV Gain20364138
    nsv821922CNV Gain20364138
    esv2751845CNV Gain17911159

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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.)
    About This Section
    OMIM gene information: 601135    OMIM disorders: --

    8 diseases for GBX2:    About MalaCards
    blindness    prostate cancer    hepatitis b    prostatitis
    hepatitis    melanoma    neuronitis    leukemia


    GBX2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GBX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 1.85 13 9537237 (6), 10690529 (4)

    Genetic Association Database (GAD): GBX2
    Human Genome Epidemiology (HuGE) Navigator: GBX2 (1 document)

    Export disorders for GBX2 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 GBX2 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with GBX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and sequence analysis of the human homeobox-containing gene GBX2. (PubMed id 8838315)1, 2, 3, 9 Lin X....Leckman J.F. (1996)
    2. The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans. (PubMed id 7903253)1, 2, 9 Matsui T.... Kurosawa Y. (1993)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. The homeobox gene GBX2, a target of the myb oncogene, mediates autocrine growth and monocyte differentiation. (PubMed id 9346236)1, 3 Kowenz-Leutz E....Leutz A. (1997)
    5. Down-regulation of homeobox gene GBX2 expression inhibits human prostate cancer clonogenic ability and tumorigenicity. (PubMed id 9537237)1, 9 Gao A.C....Isaacs J.T. (1998)
    6. Enhanced GBX2 expression stimulates growth of human prostate cancer cells via transcriptional up-regulation of the interleukin 6 gene. (PubMed id 10690529)1, 9 Gao A.C....Isaacs J.T. (2000)
    7. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
    8. Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors. (PubMed id 17060451)1 Heimbucher T....Czerny T. (2007)
    9. Microarray analysis identifies a death-from-cancer signature predicting therapy failure in patients with multiple types of cancer. (PubMed id 15931389)1 Glinsky G.V....Glinskii A.B. (2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 2637 HGNC: 4186 AceView: GBX2 Ensembl:ENSG00000168505 euGenes: HUgn2637
    ECgene: GBX2 H-InvDB: GBX2

    (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 GBX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GBX2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GBX2 gene:
    Search GeneIP for patents involving GBX2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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