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

GSC Gene

protein-coding   GIFtS: 56
GCID: GC14M095234

Goosecoid Homeobox

  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
Goosecoid Homeobox1 2
Homeobox Protein Goosecoid2

External Ids:    HGNC: 46121   Entrez Gene: 1452582   Ensembl: ENSG000001339377   OMIM: 1388905   UniProtKB: P569153   

Export aliases for GSC gene to outside databases

Previous GC identifers: GC14U990025 GC14M089051 GC14M093224 GC14M094304 GC14M075414


(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 GSC Gene:
This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded
protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in
craniofacial and rib cage development during embryogenesis. (provided by RefSeq, Jul 2008)

GeneCards Summary for GSC Gene: 
GSC (goosecoid homeobox) is a protein-coding gene. Diseases associated with GSC include miller fisher syndrome, and auditory neuropathy. GO annotations related to this gene include RNA polymerase II transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PITX1.

UniProtKB/Swiss-Prot: GSC_HUMAN, P56915
Function: Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or
lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural
components of the middle ear; required for the development of the entire tympanic ring (By similarity)

Gene Wiki entry for GSC 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_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GSC gene promoter:
         COUP-TF1   COUP-TF   COUP   MyoD   HNF-4alpha2   Nkx2-5   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGSC promoter sequence
   Search SABiosciences Chromatin IP Primers for GSC

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


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

Entrez Gene cytogenetic band: 14q32.1   Ensembl cytogenetic band:  14q32.13   HGNC cytogenetic band: 14q32.13

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M095234:  view genomic region     (about GC identifiers)

Start:
95,234,553 bp from pter      End:
95,236,562 bp from pter
Size:
2,010 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: GSC_HUMAN, P56915 (See protein sequence)
Recommended Name: Homeobox protein goosecoid  
Size: 257 amino acids; 28150 Da
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for GSC:
2DMU (3D)    
Secondary accessions: Q86YR1

Explore the universe of human proteins at neXtProt for GSC: NX_P56915

Explore proteomics data for GSC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P56915

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

    GSC Protein Expression
    REFSEQ proteins: NP_776248.1  
    ENSEMBL proteins: 
     ENSP00000238558  

    Human Recombinant Protein Products for GSC: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for GSC
    OriGene Custom MassSpec 
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    GenScript Custom Purified and Recombinant Proteins Services for GSC
    Novus Biologicals GSC Proteins
    Novus Biologicals GSC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GSC 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS--
    GO:0005667transcription factor complex IEA--

    GSC for ontologies           About GeneDecksing



    GSC Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of GSC
    R&D Systems Antibodies for GSC (Goosecoid)
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    LSBio Antibodies in human, mouse, rat for GSC 

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    GenScript Custom Assay Services for GSC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GSC 
    Cloud-Clone Corp. CLIAs for GSC


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

    3 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P56915

    ProtoNet protein and cluster: P56915

    UniProtKB/Swiss-Prot: GSC_HUMAN, P56915
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    GSC 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: GSC_HUMAN, P56915
    Function: Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or
    lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural
    components of the middle ear; required for the development of the entire tympanic ring (By similarity)

         Genatlas biochemistry entry for GSC:
    Xenopus goosecoid homologous,homeo domain encoding gene,expressed during,and involved in,gastrulation process

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001085RNA polymerase II transcription factor binding ISS--
    GO:0001103RNA polymerase II repressing transcription factor binding ISS--
    GO:0003677DNA binding NAS--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
         
    GSC for ontologies           About GeneDecksing


    Phenotypes:
         15/17 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gsc) (see all 17):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  integument  limbs/digits/tail 
     mortality/aging  muscle  nervous system  respiratory system  skeleton 

    GSC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GSC: Gsctm1Pgr Gsctm1Bhr

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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GSC
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate GSC:
    hsa-miR-885-3p hsa-miR-562 hsa-miR-19b hsa-miR-19a hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidGSC 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GSC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GSC

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of GSC

    Clone
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    OriGene clones in human, mouse for GSC (see all 6)
    OriGene ORF clones in mouse, rat for GSC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GSC (NM_005315)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSC
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                         Customized lentivirus expression plasmids for stable overexpression of GSC 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSC


    (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 GSC About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of nuclear SMAD2/3 signaling
    Regulation of nuclear SMAD2/3 signaling
    2Regulation of retinoblastoma protein
    Regulation of retinoblastoma protein


    2 BioSystems Pathways for GSC
        Regulation of retinoblastoma protein
    Regulation of nuclear SMAD2/3 signaling


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GSC

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

    5/20 Interacting proteins for GSC (P569153 ENSP000002385584) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157963, ENSP000002621604I2D: score=3 STRING: ENSP00000262160
    SMAD3P840223, ENSP000003329734I2D: score=3 STRING: ENSP00000332973
    FOXA2Q9Y2613, ENSP000003159554I2D: score=2 STRING: ENSP00000315955
    SMAD1Q157973, ENSP000003057694I2D: score=3 STRING: ENSP00000305769
    HDAC11Q96DB23, ENSP000002957574I2D: score=1 STRING: ENSP00000295757
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007369gastrulation NAS7916327
    GO:0009653anatomical structure morphogenesis ----
    GO:0021904dorsal/ventral neural tube patterning IEA--

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

    Browse Tocris compounds for GSC

    Search CenterWatch for drugs/clinical trials and news about GSC

    (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 GSC gene: 
    NM_173849.2  

    Unigene Cluster for GSC:

    Goosecoid homeobox
    Hs.440438  [show with all ESTs]
    Unigene Representative Sequence: BG112580
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000238558(uc001ydu.3)
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GSC
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate GSC:
    hsa-miR-885-3p hsa-miR-562 hsa-miR-19b hsa-miR-19a hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidGSC 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GSC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GSC
    Clone
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    OriGene clones in human, mouse for GSC (see all 6)
    OriGene ORF clones in mouse, rat for GSC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GSC (NM_005315)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSC
    Sirion Biotech Customized lentivirus for stable overexpression of GSC 
                         Customized lentivirus expression plasmids for stable overexpression of GSC 
    Primer
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    OriGene qPCR primer pairs and template standards for GSC
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GSC
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GSC

    Additional mRNA sequence: 

    AY177407.1 BC063580.1 

    2 DOTS entries:

    DT.100018623  DT.100660023 

    11 AceView cDNA sequences:

    CA414748 BC063580 NM_173849 AY177407 BQ446670 AI758825 BQ772276 BQ771765 
    BX091000 AW138807 CB219115 

    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

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


    GSC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 10 entries
             Anterior Primitive Streak Cells Anterior Primitive Streak
             Primitive streak-like cells ( Generation of endoderm cells and pancreatic progenitor...
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 6 entries
             Early-Gastrula Organizer Epiblast
             Epiblast Stem Cell line 5
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Mandibular Process
             Chondrocyte-like cells ( Direct differentiation of human embryonic stem cells into...
             sensory organ/ear/inner ear   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 4 entries
             Mesoderm Cells Mesoderm
             Mesoderm
             Mesoderm-like cells ( Direct differentiation of human embryonic stem cells into chondrocytes...
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Autopod
             limb/hindlimb   

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

    SOURCE GeneReport for Unigene cluster: Hs.440438
        SABiosciences Expression via Pathway-Focused PCR Arrays including GSC: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSC

    (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 GSC gene from 14 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia GSC1 goosecoid homeobox 99.61(n)
    99.61(a)
      467546  NM_001081486.1  NP_001074955.1 
    mouse
    (Mus musculus)
    Mammalia Gsc1 , 5 goosecoid homeobox1, 5 92.71(n)1
    97.27(a)1
      12 (54.32 cM)5
    148361  NM_010351.11  NP_034481.11 
     1044712095 
    rat
    (Rattus norvegicus)
    Mammalia Gsc1 goosecoid homeobox 92.71(n)
    97.66(a)
      317715  XM_343101.4  XP_343102.4 
    cow
    (Bos taurus)
    Mammalia GSC1 goosecoid homeobox 94.66(n)
    96.87(a)
      514862  NM_001192386.1  NP_001179315.1 
    dog
    (Canis familiaris)
    Mammalia GSC1 goosecoid homeobox 94.95(n)
    98.8(a)
      100683589  XM_003435101.1  XP_003435149.1 
    oppossum
    (Monodelphis domestica)
    Mammalia GSC6
    goosecoid homeobox
    86(a)
    1 ↔ 1
    1(327985291-328079395)
    platypus
    (Ornithorhynchus anatinus)
    Mammalia GSC6
    goosecoid homeobox
    96(a)
    1 ↔ 1
    Ultra378(1216223-1217654)
    chicken
    (Gallus gallus)
    Aves GSC1 goosecoid homeobox 82.04(n)
    89.8(a)
      396273  NM_205331.1  NP_990662.1 
    lizard
    (Anolis carolinensis)
    Reptilia GSC6
    Uncharacterized protein
    82(a)
    1 ↔ 1
    1(6723154-6736769)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3977482 homeobox protein 75.48(n)    M81481.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420034772   -- 77.84(n)    142003477 
    zebrafish
    (Danio rerio)
    Actinopterygii gsc2 goosecoid 75.22(n)   30212  L03395.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gsc6
    Goosecoid
    17(a)
    1 → many
    2L(583540-594810)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-456
    Protein CEH-45
    23(a)
    1 → many
    I(1128324-1131737)
            Species with no ortholog for GSC

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GSC gene
    PITX12  OTX22  UNCX2  VSX12  HESX12  RHOXF22  PITX22  VSX22  
    RHOXF12  PITX32  DMBX12  ESX12  GSC22  OTX12  CRX2  RHOXF2B2  
    2 SIMAP similar genes for GSC using alignment to 1 protein entry:     GSC_HUMAN:
    HESX1    POU6F1

    GSC 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

    10/81 SNPs in GSC are shown (see all 81)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs45114631,2
    C,F,A,H--95234173(+) AGCTTG/AGAGCA 1 -- ds500128Minor allele frequency- A:0.34NA NS EA WA CSA 2907
    rs1908543571,2
    C--95234345(+) AAACCC/TTCCTA 1 -- ds50010--------
    rs1826893951,2
    --95234374(+) AAACCA/GGGACA 1 -- ds50010--------
    rs38504011,2
    C,F,A--95234442(+) GATCAG/TAGCTG 1 -- ds500114Minor allele frequency- T:0.36NA WA CSA EA 516
    rs38504021,2
    C,F,A--95234452(+) GCTCAA/GTTTTT 1 -- ds500112Minor allele frequency- G:0.36NA WA CSA EA 512
    rs1388679991,2
    --95234753(+) CGTGTG/TCAAGA 1 -- ut310--------
    rs1998916551,2
    --95234861(+) CCTTCC/TTCTTC 2 E syn10--------
    rs1414525131,2
    --95234970(+) GCGGC-/GGGTTC 2 R PP fra10--------
    rs2021264391,2
    C--95235015(+) CAGTTC/TAGATC 1 -- int10--------
    rs2015175301,2
    --95235026(+) AAAGGA/CGCGCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for GSC (95234553 - 95236562 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GSC:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv470662CNV Gain18288195
    nsv902208CNV Gain21882294


    Human Gene Mutation Database (HGMD): GSC
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138890    OMIM disorders: --

    11 diseases for GSC:    About MalaCards
    miller fisher syndrome    auditory neuropathy    microtia    cornelia de lange syndrome
    velocardiofacial syndrome    guillain-barre syndrome    digeorge syndrome    malignant glioma
    neuropathy    type 1 diabetes    retinoblastoma


    GSC for disorders           About GeneDecksing

    Genetic Association Database (GAD): GSC
    Human Genome Epidemiology (HuGE) Navigator: GSC (4 documents)

    Export disorders for GSC 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 GSC gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with GSC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1. (PubMed id 7916327)1, 2, 3, 9 Blum M.... Sparkes R.S. (1994)
    2. Environmental and genetic factors associated with con genital microtia: a case-control study in Jiangsu, China, 2004 to 2007. (PubMed id 19935299)1, 4, 9 Zhang Q.G....Shen H. (2009)
    3. A genome-wide association study identifies a novel ma jor locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)1, 4 Paterson A.D....Bull S.B. (2010)
    4. 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)
    5. Joint regulation of the MAP1B promoter by HNF3beta/Foxa2 and Engrailed is the result of a highly conserved mechanism for direct interaction of homeoproteins and Fox transcription factors. (PubMed id 12642491)1, 9 Foucher I....Trembleau A. (2003)
    6. EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differe ntiation by directly repressing GOOSECOID expression. (PubMed id 22178155)1 Kalisz M....Serup P. (2012)
    7. Evaluation of four novel genetic variants affecting h emoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 st udy). (PubMed id 21294870)1 Hertel J.K....RA (2011)
    8. Pedigree and genetic study of a bilateral congenital microtia family. (PubMed id 20195123)1 Zhang Q....Yin W. (2010)
    9. A child with deletion (14)(q24.3q32.13) and auditory neuropathy. (PubMed id 18074379)1 Schlade-Bartusiak K....Cox D.W. (2008)
    10. The Spemann organizer gene, Goosecoid, promotes tumor metastasis. (PubMed id 17142318)1 Hartwell K.A....Weinberg R.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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: 145258 HGNC: 4612 AceView: GSC Ensembl:ENSG00000133937 euGenes: HUgn145258
    ECgene: GSC H-InvDB: GSC

    (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 GSC Pharmacogenomics, SNPs, Pathways

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

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



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    About This Section

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

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