Set Analyses:
GeneALaCart
GeneAnalytics
VarElect
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 


GSC2 Gene

protein-coding   GIFtS: 47
GCID: GC22M019136

Goosecoid Homeobox 2

(Previous name: goosecoid-like)
(Previous symbol: GSCL)
  See GSC2-related disease
at
MalaCards
 

Aliases
for GSC2 gene

(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

TryGeneCards Plus
Aliases
Goosecoid Homeobox 21 2     goosecoid-like1
GSCL1 2 3 5     Homeobox Protein Goosecoid-22
GSC-22 3     Homeobox Protein Goosecoid-Like3
GSC-L2 3     

External Ids:    HGNC: 46131   Entrez Gene: 29282   Ensembl: ENSG000000635157   OMIM: 6018455   UniProtKB: O154993   

Export aliases for GSC2 gene to outside databases

Previous GC identifer: GC22M017516


Summaries
for GSC2 gene

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

TryGeneCards Plus
Entrez Gene summary for GSC2 Gene:
Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11.
Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects,
craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and
both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures
affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that
haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is
expressed in a limited number of adult tissues, as well as in early human development. (provided by RefSeq, Jul
2008)

GeneCards Summary for GSC2 Gene:
GSC2 (goosecoid homeobox 2) is a protein-coding gene. Diseases associated with GSC2 include digeorge syndrome. 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 GSC.

UniProtKB/Swiss-Prot: GSC2_HUMAN, O15499
Function: May have a role in development. May regulate its own transcription. May bind the bicoid consensus
sequence TAATCC




Genomic Views
for GSC2 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the GSC2 gene promoter:
         GATA-1   E47   PPAR-gamma1   IRF-7A   AP-2beta   PPAR-gamma2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GSC2 promoter sequence
   Search Chromatin IP Primers for GSC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GSC2


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

GSC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GSC2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M019136:  view genomic region     (about GC identifiers)

Start:
 19,136,089 bp from pter      End:
 19,137,796 bp from pter
Size:
 1,708 bases      Orientation:
 minus strand

Proteins
for GSC2 gene

(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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus
UniProtKB/Swiss-Prot: GSC2_HUMAN, O15499 (See protein sequence)
Recommended Name: Homeobox protein goosecoid-2  
Size: 205 amino acids; 21545 Da
Developmental stage: Expressed in early human development as well as in a limited number of adult tissues

Explore the universe of human proteins at neXtProt for GSC2: NX_O15499

Explore proteomics data for GSC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See GSC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005306.1  
    ENSEMBL proteins: 
     ENSP00000086933  

    GSC2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GSC2
    GenScript Custom Purified and Recombinant Proteins Services for GSC2
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GSC2

         		 Search eBioscience for Proteins for GSC2 

         		antibodies-online proteins for GSC2 (3 products) 

         		antibodies-online peptides for GSC2

    GSC2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GSC2
    Browse R&D Systems for Antibodies
    OriGene Antibodies for GSC2
    OriGene Custom Antibody Services for GSC2
    Novus Biologicals GSC2 Antibodies
    Abcam antibodies for GSC2
    Cloud-Clone Corp. Antibodies for GSC2
    Search ThermoFisher Antibodies for GSC2
    antibodies-online antibodies for GSC2 (9 products) 

    GSC2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GSC2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GSC2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GSC2
    Cloud-Clone Corp. CLIAs for GSC2
    Search eBioscience for ELISAs for GSC2 
    antibodies-online kits for GSC2 (4 products) 

    Domains /
    Families
    for GSC2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 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 O15499

    ProtoNet protein and cluster: O15499

    UniProtKB/Swiss-Prot: GSC2_HUMAN, O15499
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with GSC2           About GenesLikeMe


    Function
    for GSC2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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.)
    About This Section

    TryGeneCards Plus
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GSC2_HUMAN, O15499
    Function: May have a role in development. May regulate its own transcription. May bind the bicoid consensus
    sequence TAATCC

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9441739
    GO:0003700sequence-specific DNA binding transcription factor activity IDA9700206
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with GSC2           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Gsc2):
     embryogenesis  normal 

    Find genes that share phenotypes with GSC2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GSC2: Gsc2tm1Bhr Gsc2tm1Ais

       genOway: Develop your customized and physiologically relevant rodent model for GSC2

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat GSC2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate GSC2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for GSC2
    Predesigned siRNA for gene silencing in human, mouse, rat GSC2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GSC2

    Clone
    Products:             		 OriGene clones in human, mouse for GSC2 (see all 5)
    OriGene ORF clones in mouse, rat for GSC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GSC2 (NM_005315)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSC2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GSC2

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for GSC2
    Browse ESI BIO Cell Lines and PureStem Progenitors for GSC2 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSC2


    Localization
    for GSC2 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus
    Subcellular locations from UniProtKB/Swiss-Prot
    GSC2_HUMAN, O15499: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3

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

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

    Find genes that share ontologies with GSC2           About GenesLikeMe


    Pathways & Interactions
    for GSC2 gene

    (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).
    About This Section

    TryGeneCards Plus





        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GSC2
    Interactions:

        Search GeneGlobe Interaction Network for GSC2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for GSC2 (O154993 ENSP000000869334) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF4P783173, ENSP000003152124I2D: score=1 STRING: ENSP00000315212
    CHEK2ENSP000003720234STRING: ENSP00000372023
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA9700206
    GO:0009653anatomical structure morphogenesis TAS9150167

    Find genes that share ontologies with GSC2           About GenesLikeMe



    Drugs & Compounds
    for GSC2 gene

    (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)
    About This Section

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

    Browse Tocris compounds for GSC2



    Transcripts
    for GSC2 gene

    (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 )
    About This Section

    TryGeneCards Plus
    REFSEQ mRNAs for GSC2 gene: 
    NM_005315.1  

    Unigene Cluster for GSC2:

    Goosecoid homeobox 2
    Hs.534318
    Unigene Representative Sequence: NM_005315
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000086933(uc011ags.2)
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat GSC2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate GSC2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for GSC2
    Predesigned siRNA for gene silencing in human, mouse, rat GSC2
    Clone
    Products:             		 OriGene clones in human, mouse for GSC2 (see all 5)
    OriGene ORF clones in mouse, rat for GSC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GSC2 (NM_005315)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSC2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GSC2
    Primer
    Products:            		OriGene qSTAR qPCR primer pairs in human, mouse for GSC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GSC2
      QuantiTect SYBR Green Assays in human, mouse, rat GSC2
      QuantiFast Probe-based Assays in human, mouse, rat GSC2

    1 DOTS entry:

    DT.92014810 

    1 AceView cDNA sequence:

    NM_005315 

    GeneLoc Exon Structure


    Expression
    for GSC2 gene

    (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)
    About This Section

    TryGeneCards Plus

    GSC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GSC2 Expression
    About this image


    GSC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Mesencephalon
     
     Brain (Nervous System)
             Pons
    GSC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    GSC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534318

    UniProtKB/Swiss-Prot: GSC2_HUMAN, O15499
    Tissue specificity: Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably
    expressed in other tissues at low levels

        Custom PCR Arrays for GSC2
    Primer
    Products:    		OriGene qSTAR qPCR primer pairs in human, mouse for GSC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GSC2
    QuantiTect SYBR Green Assays in human, mouse, rat GSC2
    QuantiFast Probe-based Assays in human, mouse, rat GSC2
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSC2

    Orthologs
    for GSC2 gene

    (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

    TryGeneCards Plus
    This gene was present in the common ancestor of animals.

    Orthologs for GSC2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Gsc21 , 5 goosecoid homebox 21, 5 78.92(n)1
    77.3(a)1    		   16 (11.10 cM)5
    1953331  NM_029469.11  NP_083745.11 
     179131075 
    chicken
    (Gallus gallus)    		 Aves GSC21 goosecoid homeobox 2 65.47(n)
    65.77(a)    		   101750576  XM_004934328.1  XP_004934385.1 
    lizard
    (Anolis carolinensis)    		 Reptilia GSC26
    		 goosecoid homeobox 2
    		 48(a)
    		 1 ↔ 1
    		 GL343282.1(760171-765966)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia gsc21 goosecoid homeobox 2 59.05(n)
    61.9(a)    		   101734976  XM_004911369.1  XP_004911426.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1018858101 homeobox protein goosecoid-2-like 64.34(n)
    68.6(a)    		   101885810  XM_005171725.1  XP_005171782.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Gsc6
    		 Goosecoid
    		 16(a)
    		 1 → many
    		 2L(583540-594810)
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-456
    		 Protein CEH-45 (ceh-45) mRNA, complete cds
    		 26(a)
    		 1 → many
    		 I(1128324-1131737) WBGene00022837


    ENSEMBL Gene Tree for GSC2 (if available)
    TreeFam Gene Tree for GSC2 (if available)

    Paralogs
    for GSC2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for GSC2 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  PITX22  VSX22  
    PROP12  PITX32  DMBX12  CRX2  MIXL12  OTX12  
    3 SIMAP similar genes for GSC2 using alignment to 1 protein entry:     GSC2_HUMAN:
    RAX2    MIXL1    PITX1

    Find genes that share paralogs with GSC2           About GenesLikeMe



    Genomic Variants
    for GSC2 gene

    (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)
    About This Section

    TryGeneCards Plus
    Selected SNPs for GSC2 (see all 78)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1903959471,2
    		C--19136007(+) GATACC/TAAGAC 1 -- ds50010--------
    rs1835163751,2
    		--19136059(+) AGACAA/CGAACC 1 -- ds50010--------
    rs1880922081,2
    		--19136133(+) AGAGGA/GTGGCC 1 -- ds50010--------
    rs1486791871,2
    		C--19136165(+) AGACGC/TTCCAC 1 -- ds50010--------
    rs20713391,2
    		C,F,A,H--19136203(-) ACCACC/TCCGTA 1 -- ds500112Minor allele frequency- T:0.46EA NS NA WA CSA 1587
    rs1164942731,2
    		F--19136235(+) GTGTCT/CCTCGG 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1151427211,2
    		C--19136240(+) TCTCGG/TGGGGT 1 -- ds50010--------
    rs1159996791,2
    		F--19136294(+) GGACTC/GGCCAC 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs1927093901,2
    		--19136327(+) GCACCG/TGGGGC 1 -- ds50010--------
    rs1828284301,2
    		--19136330(+) CCGGGC/GGCCCG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for GSC2 (19136089 - 19137796 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GSC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    nsv834122CNV Loss17160897
    nsv914263CNV Gain21882294
    nsv914268CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GSC2
    DNA2.0 Custom Variant and Variant Library Synthesis for GSC2

    Disorders / Diseases
    for GSC2 gene

    (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.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 601845    OMIM disorders: --

    1 disease for GSC2:    
    About MalaCards
    digeorge syndrome

    2 inferred disease relationships from the University of Copenhagen DISEASES database for GSC2:
    Velocardiofacial syndrome     DiGeorge syndrome

    Find genes that share disorders with GSC2           About GenesLikeMe

    Genetic Association Database (GAD): GSC2

    Export disorders for GSC2 gene to outside databases

    Publications
    for GSC2 gene

    (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

    TryGeneCards Plus
    PubMed articles for GSC2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with GSC2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The DiGeorge syndrome minimal critical region contains a goosecoid- like (GSCL) homeobox gene that is expressed early in human development. (PubMed id 9150167)1, 2, 3, 9 Gottlieb S.... Budarf M.L. (Am. J. Hum. Genet. 1997)
    2. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11. (PubMed id 9441739)1, 2 Funke B.... Morrow B.E. (Genomics 1997)
    3. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)4 Kettunen J....Ripatti S. (Nat. Genet. 2012)
    4. Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. (PubMed id 22916037)1 Inouye M....de Bakker P.I. (PLoS Genet. 2012)
    5. Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region. (PubMed id 10822263)1 Galili N....Buck C.A. (Dev. Dyn. 2000)
    6. Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain. (PubMed id 9700206)1 Gottlieb S....Budarf M.L. (Hum. Mol. Genet. 1998)

    External Searches for GSC2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GSC2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 2928 HGNC: 4613 AceView: GSCL Ensembl:ENSG00000063515 euGenes: HUgn2928
    ECgene: GSC2 H-InvDB: GSC2

    Other Databases showing GSC2 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing GSC2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for GSC2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for GSC2 gene

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

    TryGeneCards Plus    		Patent Information for GSC2 gene:
    Search GeneIP for patents involving GSC2

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



    Products
    for GSC2 gene

    (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, eBioscience, antibodies-online, 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
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus
     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of GSC2
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for GSC2   OriGene RNAi products in human, mouse, rat for GSC2  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for GSC2  
     OriGene qSTAR qPCR primer pairs in human, mouse for GSC2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for GSC2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GSC2   OriGene Custom Protein Services for GSC2  

         		 
     Block miRNA regulation of human, mouse, rat GSC2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GSC2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GSC2 Predesigned siRNA for gene silencing in human, mouse, rat GSC2
     QuantiFast Probe-based Assays in human, mouse, rat GSC2 QuantiTect SYBR Green Assays in human, mouse, rat GSC2
     Custom PCR Arrays for GSC2 Search Chromatin IP Primers for GSC2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GSC2  Search GeneGlobe Interaction Network for GSC2
     Regulatory tfbs in GSC2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for GSC2 GenScript cDNA clones with any tag delivered in your preferred vector for GSC2
     GenScript Custom Assay Services for GSC2 GenScript Custom overexpressing Cell Line Services for GSC2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for GSC2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     GSC2 antibodies
     Antibodies for GSC2
     See all of Abcam's Antibodies, Kits and Proteins for GSC2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for GSC2
     Antibodies for GSC2
     ELISAs for GSC2
     CLIAs for GSC2



     Browse ESI BIO Cell Lines and PureStem Progenitors for GSC2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSC2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for GSC2
     SwitchGear Promoter luciferase reporter plasmids for GSC2
     Search ThermoFisher Antibodies for GSC2
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GSC2
     Browse compounds at ApexBio
     Search Addgene for plasmids for GSC2
      Search eBioscience for proteins for GSC2
      Search eBioscience for elisas for GSC2
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for GSC2
     antibodies-online antibodies for GSC2 (9 products)
     antibodies-online kits for GSC2 (4 products)
     antibodies-online peptides for GSC2
     antibodies-online proteins for GSC2 (3 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 2 Nov 2014 , 8 Jan 2015

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2015 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      GSC2 gene at Home site.
    Version: 3.12.304 29 Jan 2015
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4