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SCXA Gene

protein-coding   GIFtS: 34
GCID: GC08P145490

Scleraxis Homolog A (Mouse)

  See SCXA-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
Scleraxis Homolog A (Mouse)1 2     Basic Helix-Loop-Helix Transcription Factor Scleraxis2
SCX2 3 5     Class II BHLH Protein Scleraxis2
Class A Basic Helix-Loop-Helix Protein 412 3     BHLHA413
Class A Basic Helix-Loop-Helix Protein 482 3     BHLHA483
bHLHa412 3     bHLHa483

External Ids:    HGNC: 243121   Entrez Gene: 1001298852   Ensembl: ENSG000001886867   OMIM: 6090675   UniProtKB: Q7RTU73   

Export aliases for SCXA gene to outside databases

Previous GC identifers: GC08U900612 GC08P145394 GC08P145462 GC08P145398 GC08P145463 GC08P145464


(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 SCXA Gene:
SCXA (scleraxis homolog A (mouse)) is a protein-coding gene. Diseases associated with SCXA include eosinophilia-myalgia syndrome. GO annotations related to this gene include E-box binding and sequence-specific DNA binding. An important paralog of this gene is NHLH1.

UniProtKB/Swiss-Prot: SCX_HUMAN, Q7RTU7
Function: Plays an early essential role in mesoderm formation, as well as a later role in formation of
somite-derived chondrogenic lineages (By similarity)




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the SCXA gene promoter:
         Max1   STAT5B   NF-1   Spz1   Pax-5   Sp1   Lmo2   Nkx2-5   GATA-2   STAT3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCXA


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P145490:  view genomic region     (about GC identifiers)

Start:
145,490,549 bp from pter      End:
145,492,470 bp from pter
Size:
1,922 bases      Orientation:
plus 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: SCX_HUMAN, Q7RTU7 (See protein sequence)
Recommended Name: Basic helix-loop-helix transcription factor scleraxis  
Size: 201 amino acids; 21596 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Dimerizes and binds the E-box
consensus sequence with E12 (By similarity)

Explore the universe of human proteins at neXtProt for SCXA: NX_Q7RTU7

Explore proteomics data for SCXA at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_001008272.1  
    ENSEMBL proteins: 
     ENSP00000345599  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q7RTU7

    ProtoNet protein and cluster: Q7RTU7

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: SCX_HUMAN, Q7RTU7
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Find genes that share domains with SCXA           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: SCX_HUMAN, Q7RTU7
    Function: Plays an early essential role in mesoderm formation, as well as a later role in formation of
    somite-derived chondrogenic lineages (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ISS--
    GO:0043425bHLH transcription factor binding IPI10775504
    GO:0043565sequence-specific DNA binding ISS--
    GO:0046982protein heterodimerization activity IDA10775504
    GO:0046983protein dimerization activity ----
         
    Find genes that share ontologies with SCXA           About GenesLikeMe


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    (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
    SCX_HUMAN, Q7RTU7: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular2
    chloroplast1
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10775504
    GO:0005667transcription factor complex IDA10775504

    Find genes that share ontologies with SCXA           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SCXA
    Interactions:

        Search GeneGlobe Interaction Network for SCXA

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SCXA (Q7RTU73 ENSP000003455994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SOX9P484363, ENSP000002454794I2D: score=1 STRING: ENSP00000245479
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001707mesoderm formation ISS--
    GO:0001894tissue homeostasis ISS--
    GO:0001958endochondral ossification ISS--
    GO:0002062chondrocyte differentiation ISS--
    GO:0003179heart valve morphogenesis ISS--

    Find genes that share ontologies with SCXA           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 Tocris compounds for SCXA (SCX)



    (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 SCXA gene: 
    NM_001008271.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000340695(uc003zbs.2)
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    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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    SCXA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SCXA Expression
    About this image


    SCXA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             Connective tissue progenitor cells
    SCXA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCXA Protein Expression
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCXA

    (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 SCXA gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    74(a)
    1 → many
    GL343752.1(190008-217016)
    zebrafish
    (Danio rerio)
    Actinopterygii scxa6
    si:ch211-251p5.36
    si:ch211-251p5.3
    63(a)
    61(a)
    many ↔ many
    many ↔ many
    19(3564002-3572099) ENSDARG00000035695
    16(33700820-33706327) ENSDARG00000011635
    fruit fly
    (Drosophila melanogaster)
    Insecta CG335576
    --
    35(a)
    1 → many
    X(9903268-9903886)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-86
    Protein HLH-8 (hlh-8) mRNA, complete cds
    24(a)
    1 → many
    X(8116636-8120106) WBGene00001953
            Species with no ortholog for SCXA

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCXA gene
    NHLH12  TWIST12  TWIST22  HAND22  TAL12  NHLH22  LYL12  TAL22  
    TCF152  SCXB2  HAND12  
    4 SIMAP similar genes for SCXA using alignment to 1 protein entry:     SCX_HUMAN:
    TAL2    TCF15    HAND2    TWIST2

    Find genes that share paralogs with SCXA           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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    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SCXA (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv989584CNV Deletion20482838
    dgv7960n71CNV Loss21882294
    nsv891827CNV Loss21882294
    dgv7955n71CNV Loss21882294
    nsv891817CNV Loss21882294
    dgv7957n71CNV Loss21882294
    nsv891807CNV Loss21882294
    dgv7958n71CNV Loss21882294
    dgv7940n71CNV Loss21882294
    dgv7961n71CNV Loss21882294

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    (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: 609067    OMIM disorders: --

    1 disease for SCXA:    
    About MalaCards
    eosinophilia-myalgia syndrome

    1 disease from the University of Copenhagen DISEASES database for SCXA:
    eosinophilia-myalgia syndrome

    Find genes that share disorders with SCXA           About GenesLikeMe


    Export disorders for SCXA 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 SCXA gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with SCXA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (Nature 2006)
    2. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PubMed id 12617822)1, 2 McLellan A.S.... Kealey T. (Gene Expr. Patterns 2002)
    3. Synergistic roles of scleraxis and Smads in the regulation of collagen 1I+2 gene expression. (PubMed id 22796342)1 Bagchi R.A. and Czubryt M.P. (Biochim. Biophys. Acta 2012)
    4. Conversion of human bone marrow-derived mesenchymal stem cells into tendon progenitor cells by ectopic expression of scleraxis. (PubMed id 21988170)1 Alberton P....Docheva D. (Stem Cells Dev. 2012)
    5. Host cell targets of tegument protein VP22 of herpes simplex virus 1. (PubMed id 21424732)1 Li M....Zheng C. (Arch. Virol. 2011)
    6. Scleraxis and E47 cooperatively regulate the Sox9-dependent transcription. (PubMed id 19828133)1 Furumatsu T....Ozaki T. (amp 2010)
    7. [Effect of high glucose on the expression of transcription factor Scleraxis in periodontal ligament cells in vitro]. (PubMed id 19087640)1 Yuan Y.D....Xie H. (Zhonghua Kou Qiang Yi Xue Za Zhi 2008)
    8. [Expression of Scleraxis in human periodontal ligament cells and gingival fibroblasts]. (PubMed id 17129431)1 Liu Q....Li C.Z. (Zhonghua Kou Qiang Yi Xue Za Zhi 2006)
    9. Cultivation of human tenocytes in high-density culture. (PubMed id 15338228)1 Schulze-Tanzil G....Shakibaei M. (Histochem. Cell Biol. 2004)
    10. Establishment of tendon-derived cell lines exhibiting pluripotent mesenchymal stem cell-like property. (PubMed id 12837285)1 Salingcarnboriboon R....Noda M. (Exp. Cell Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 100129885 HGNC: 24312 Ensembl:ENSG00000188686 euGenes: HUgn100129885 ECgene: SCXA
    H-InvDB: SCXA

    (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 SCXA 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 SCXA gene:
    Search GeneIP for patents involving SCXA

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    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

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