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GBX2 Gene

protein-coding   GIFtS: 56
GCID: GC02M237090

Gastrulation Brain Homeobox 2

(Previous name: gastrulation brain homeo box 2)
  See GBX2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GBX2 Gene:
GBX2 (gastrulation brain homeobox 2) is a protein-coding gene. Diseases associated with GBX2 include 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 DLX2.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for GBX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GBX2_HUMAN, P52951 (See protein sequence)
Recommended Name: Homeobox protein GBX-2  
Size: 348 amino acids; 37348 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GBX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001476.2  
    ENSEMBL proteins: 
     ENSP00000302251   ENSP00000448747  

    GBX2 Human Recombinant Protein Products:

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    OriGene Purified Protein for GBX2
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    OriGene Custom MassSpec
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    Novus Biologicals GBX2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GBX2

     
    Search eBioscience for Proteins for GBX2 

     
    antibodies-online proteins for GBX2 (6 products) 

     
    antibodies-online peptides for GBX2

    GBX2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for GBX2
    Cloud-Clone Corp. Antibodies for GBX2
    ThermoFisher Antibodies for GBX2
    LSBio Antibodies in human, mouse, rat for GBX2
    antibodies-online antibodies for GBX2 (42 products) 

    GBX2 Assay Products:

    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
    Search eBioscience for ELISAs for GBX2 
    antibodies-online kits for GBX2 (6 products) 


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

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     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


    Find genes that share domains with GBX2           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 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:    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--
         
    Find genes that share ontologies with GBX2           About GenesLikeMe


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

    Find genes that share phenotypes with GBX2           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GBX2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target GBX2:
    hsa-mir-335-5p (MIRT017008)

    Block miRNA regulation of human, mouse, rat GBX2 using miScript Target Protectors
    4 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for GBX2
    Predesigned siRNA for gene silencing in human, mouse, rat GBX2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GBX2

    Clone
    Products:
         
    OriGene clones in human, mouse for GBX2 (see all 5)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GBX2
    Browse ESI BIO Cell Lines and PureStem Progenitors for GBX2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBX2


    (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 UniProtKB/Swiss-Prot
    GBX2_HUMAN, P52951: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with GBX2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GBX2 About    
    See pathways by source

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

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

    1 BioSystems Pathway for GBX2
        Neural Crest Differentiation


        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for GBX2

    Gene Ontology (GO): 18 biological process terms (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001569patterning of blood vessels IEA--
    GO:0001755neural crest cell migration IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007399nervous system development TAS8838315
    GO:0007411axon guidance IEA--
    GO:0008283cell proliferation ----
    GO:0021549cerebellum development IEA--
    GO:0021555midbrain-hindbrain boundary morphogenesis IEA--
    GO:0021568rhombomere 2 development IEA--
    GO:0021794thalamus development IEA--
    GO:0021884forebrain neuron development IEA--
    GO:0021930cerebellar granule cell precursor proliferation IEA--
    GO:0030902hindbrain development ----
    GO:0030917midbrain-hindbrain boundary development ----
    GO:0035239tube morphogenesis ----
    GO:0042472inner ear morphogenesis IEA--
    GO:0048483autonomic nervous system development IEA--

    Find genes that share ontologies with GBX2           About GenesLikeMe



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

    Browse Tocris compounds for 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)



    Find genes that share compounds with GBX2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for 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:
         
    Block miRNA regulation of human, mouse, rat GBX2 using miScript Target Protectors
    4 qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for GBX2
    Predesigned siRNA for gene silencing in human, mouse, rat GBX2
    Clone
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    OriGene clones in human, mouse for GBX2 (see all 5)
    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for GBX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GBX2
      QuantiTect SYBR Green Assays in human, mouse, rat GBX2
      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:

    NM_001485 AF118452 BM747801 BF115559 BM747771 BG827869 AA933790 CD611885 
    BE463746 BX094347 CD611886 AA176205 CD611889 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™, 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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    GBX2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             GABA neuron-like cells
     
     Neural Ectoderm (Nervous System)    fully expand to see all 5 entries
             Isthmus Cells Neural Plate
             Neuroectoderm cells
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Isthmus Cells Neural Plate
             Telencephalon
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
             GABA neuron-like cells
     
     Epiblast (Early Embryonic Tissues)
             Early Epiblast Cells Epiblast
    GBX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GBX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.184945
        Pathway & Disease-focused RT2 Profiler 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
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for GBX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GBX2
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GBX2 gene from Selected 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 77.25(n)
    75.37(a)
      395950  NM_205068.1  NP_990399.1 
    lizard
    (Anolis carolinensis)
    Reptilia GBX26
    gastrulation brain homeobox 2
    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
    Protein CEH-12 (ceh-12) mRNA, complete cds
    32(a)
    1 → many
    I(5840289-5841888) WBGene00000436


    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)
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    Paralogs for GBX2 gene
    DLX22  BARX12  GBX12  NKX1-12  VENTX2  BARHL12  BARHL22  MNX12  
    BARX22  DLX12  DLX32  LBX22  NKX1-22  BSX2  DLX52  DLX62  
    DLX42  LBX12  MSX22  MSX12  
    4 SIMAP similar genes for GBX2 using alignment to 2 protein entries:     GBX2_HUMAN (see all proteins):
    HMX2    HHEX    HLX    GBX1

    Find genes that share paralogs with GBX2           About GenesLikeMe



    (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 GBX2 (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

    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GBX2
    DNA2.0 Custom Variant and Variant Library Synthesis for GBX2

    (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.)
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    OMIM gene information: 601135    OMIM disorders: --

    1 disease for GBX2:    
    About MalaCards
    prostate cancer


    Find genes that share disorders with GBX2           About GenesLikeMe

    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)
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    PubMed articles for GBX2 gene, integrated from 10 sources (see all 36):
    (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. (Genomics 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. (FEBS Lett. 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. (Nature 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. (Cell 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. (Cancer Res. 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. (Clin. Cancer Res. 2000)
    7. GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. (PubMed id 23722424)1 Rietveld C.A....Koellinger P.D. (Science 2013)
    8. Identification of prognosis-relevant subgroups in patients with chemoresistant triple-negative breast cancer. (PubMed id 23549873)1 Yu K.D....Chang J.C. (Clin. Cancer Res. 2013)
    9. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
    10. Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors. (PubMed id 17060451)1 Heimbucher T....Czerny T. (Mol. Cell. Biol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2637 HGNC: 4186 AceView: GBX2 Ensembl:ENSG00000168505 euGenes: HUgn2637
    ECgene: GBX2 H-InvDB: GBX2

    (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 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.)
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    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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