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GSC Gene

protein-coding   GIFtS: 56
GCID: GC14M095234

Goosecoid Homeobox

  See GSC-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)
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Aliases
Goosecoid Homeobox1 2
Homeobox Protein Goosecoid2
SAMS5

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   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 Chromatin IP Primers for GSC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GSC_HUMAN, P56915 (See protein sequence)
Recommended Name: Homeobox protein goosecoid  
Size: 257 amino acids; 28150 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_776248.1  
    ENSEMBL proteins: 
     ENSP00000238558  

    GSC Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for GSC

     
    Search eBioscience for Proteins for GSC 

    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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    Novus Biologicals GSC Antibodies
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    LSBio Antibodies in human, mouse, rat for GSC

    GSC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GSC
    Cloud-Clone Corp. CLIAs for GSC
    Search eBioscience for ELISAs for GSC 


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

    3 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     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


    Find genes that share domains with GSC           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: 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): Selected molecular function terms (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 ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with GSC           About GenesLikeMe


    Phenotypes:
         Selected 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/body  hearing/vestibular/ear  integument  limbs/digits/tail 
     mortality/aging  muscle  nervous system  respiratory system  skeleton 

    Find genes that share phenotypes with GSC           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GSC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target GSC:
    hsa-mir-375 (MIRT019699)

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

    Gene Editing
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    Clone
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    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
    Addgene plasmids for GSC 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GSC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSC


    (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
    GSC_HUMAN, P56915: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with GSC           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 GSC About    
    See pathways by source

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


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


        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for GSC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for GSC (P569153 ENSP000002385584) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157963, ENSP000002621604I2D: score=3 STRING: ENSP00000262160
    SMAD3P840223, ENSP000003329734I2D: score=3 STRING: ENSP00000332973
    WWP2O003083, ENSP000003482834I2D: score=1 STRING: ENSP00000348283
    SMAD1Q157973, ENSP000003057694I2D: score=3 STRING: ENSP00000305769
    FOXH1O755933, ENSP000003665344I2D: score=1 STRING: ENSP00000366534
    About this table

    Gene Ontology (GO): 12 biological process terms (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007369gastrulation NAS7916327
    GO:0009653anatomical structure morphogenesis ----
    GO:0021904dorsal/ventral neural tube patterning IEA--
    GO:0023019signal transduction involved in regulation of gene expression IEA--
    GO:0030178negative regulation of Wnt signaling pathway IEA--
    GO:0030900forebrain development IEA--
    GO:0042474middle ear morphogenesis ISS--
    GO:0043583ear development ----
    GO:0048644muscle organ morphogenesis IEA--
    GO:0048704embryonic skeletal system morphogenesis IEA--

    Find genes that share ontologies with GSC           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 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,
    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 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
    Products:
         
    Block miRNA regulation of human, mouse, rat GSC using miScript Target Protectors
    5 qRT-PCR 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:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat GSC
    Clone
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    GenScript: all cDNA clones in your preferred vector: GSC (NM_005315)
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    Addgene plasmids for GSC 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GSC
    OriGene qSTAR qPCR primer pairs in human, mouse for GSC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GSC
      QuantiTect SYBR Green Assays in human, mouse, rat GSC
      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 AY177407 NM_173849 BC063580 BQ771765 BQ772276 AI758825 BQ446670 
    AW138807 BX091000 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™, 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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    GSC expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 17) fully expand
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 13 entries
             Primitive Streak Cells Anterior Primitive Streak
             Mesendoderm-like cells
     
     Epiblast (Early Embryo)    fully expand to see all 7 entries
             Primitive Streak Cells Anterior Primitive Streak
             Epiblast Stem Cell line 5
     
     Endoderm (Gastrulation Derivatives)    fully expand to see all 4 entries
             Mesendoderm Cells Anterior Primitive Streak
             Definitive endoderm-like cells
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 4 entries
             Visceral Endoderm Cells Visceral Endoderm
             Hypoblast
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesendoderm Cells Anterior Primitive Streak
             Mesoderm-like cells
    GSC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GSC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.440438
        Pathway & Disease-focused RT2 Profiler 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

    Primer
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    OriGene qPCR primer pairs and template standards for GSC
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    QuantiFast Probe-based Assays in human, mouse, rat GSC
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GSC gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 
     1044712105 
    chicken
    (Gallus gallus)
    Aves GSC1 goosecoid homeobox 81.9(n)
    89.8(a)
      396273  NM_205331.1  NP_990662.1 
    lizard
    (Anolis carolinensis)
    Reptilia GSC6
    goosecoid homeobox
    81(a)
    1 ↔ 1
    1(6723154-6736769)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3977482 homeobox protein 75.48(n)    M81481.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gsc2 goosecoid 75.22(n)   30212  L03395.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gsc6
    Goosecoid
    19(a)
    1 → many
    2L(583540-594810)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-456
    Protein CEH-45 (ceh-45) mRNA, complete cds
    31(a)
    1 → many
    I(1128324-1131737) WBGene00022837


    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)
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    Paralogs for GSC gene
    PITX12  OTX22  UNCX2  VSX12  HESX12  PITX22  VSX22  PROP12  
    PITX32  DMBX12  GSC22  CRX2  MIXL12  OTX12  
    2 SIMAP similar genes for GSC using alignment to 1 protein entry:     GSC_HUMAN:
    HESX1    POU6F1

    Find genes that share paralogs with GSC           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 GSC (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GSC
    DNA2.0 Custom Variant and Variant Library Synthesis for GSC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138890   
    OMIM disorders: 602471  
    4 diseases for GSC:    
    About MalaCards
    short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities    auditory neuropathy    microtia    cornelia de lange syndrome


    Find genes that share disorders with GSC           About GenesLikeMe

    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)
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    PubMed articles for GSC gene, integrated from 10 sources (see all 45):
    (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. (Genomics 1994)
    2. Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007. (PubMed id 19935299)1, 4, 9 Zhang Q.G....Shen H. (Plast. Reconstr. Surg. 2009)
    3. A genome-wide association study identifies a novel major 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. (Diabetes 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. (Genome Res. 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. (Development 2003)
    6. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. (PubMed id 24290375)1 Parry D.A....Johnson C.A. (Am. J. Hum. Genet. 2013)
    7. EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by directly repressing GOOSECOID expression. (PubMed id 22178155)1 Kalisz M....Serup P. (Dev. Biol. 2012)
    8. Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). (PubMed id 21294870)1 Hertel J.K....RA ( 2011)
    9. Pedigree and genetic study of a bilateral congenital microtia family. (PubMed id 20195123)1 Zhang Q....Yin W. (Plast. Reconstr. Surg. 2010)
    10. A child with deletion (14)(q24.3q32.13) and auditory neuropathy. (PubMed id 18074379)1 Schlade-Bartusiak K....Cox D.W. (Am. J. Med. Genet. A 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    OMIM
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      (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: 145258 HGNC: 4612 AceView: GSC Ensembl:ENSG00000133937 euGenes: HUgn145258
    ECgene: GSC H-InvDB: GSC

    (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 GSC Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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