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SPEG Gene

protein-coding   GIFtS: 55
GCID: GC02P220299

SPEG Complex Locus

(Previous name: aortic preferentially expressed gene 1)
(Previous symbol: APEG1)
  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)
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Aliases
SPEG Complex Locus1 2     SPEGalpha2
APEG11 2 3     SPEGbeta2
Aortic Preferentially Expressed Gene 11 2     Nuclear Protein, Marker For Differentiated Aortic Smooth Muscle And
Down-Regulated With Vascular Injury2
Aortic Preferentially Expressed Protein 12 3     Striated Muscle Preferentially Expressed Protein Kinase2
APEG-12 3     KIAA12973
EC 2.7.11.13 8     EC 2.7.118
BPEG2     

External Ids:    HGNC: 169011   Entrez Gene: 102902   Ensembl: ENSG000000721957   UniProtKB: Q157723   

Export aliases for SPEG gene to outside databases

Previous GC identifers: GC02P220007 GC02P212152


(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 SPEG Gene:
This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein
family is required for myocyte cytoskeletal development. Studies in mouse have determined that a lack of this
protein affected myocardial development. Multiple alternatively spliced transcript variants have been reported
for this gene, but the full-length nature of only two variants that encode different protein isoforms has been
defined. (provided by RefSeq, Mar 2010)

GeneCards Summary for SPEG Gene:
SPEG (SPEG complex locus) is a protein-coding gene. Diseases associated with SPEG include streptococcal meningitis, and scarlet fever. GO annotations related to this gene include protein serine/threonine kinase activity. An important paralog of this gene is STK17B.

UniProtKB/Swiss-Prot: SPEG_HUMAN, Q15772
Function: Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells

Gene Wiki entry for SPEG 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:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPEG gene promoter:
         TBP   p53   AP-1   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SPEG promoter sequence
   Search Chromatin IP Primers for SPEG

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


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P220299:  view genomic region     (about GC identifiers)

Start:
220,299,568 bp from pter      End:
220,363,009 bp from pter
Size:
63,442 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SPEG_HUMAN, Q15772 (See protein sequence)
Recommended Name: Striated muscle preferentially expressed protein kinase  
Size: 3267 amino acids; 354289 Da
Subunit: Isoform 3 is found as a monomer or homodimer
Miscellaneous: Expression is under the tight control of the locus control region (LCRs)
Sequence caution: Sequence=AAY15052.1; Type=Erroneous gene model prediction; Sequence=ABD61734.1; Type=Frameshift;
Positions=31, 35;
1 PDB 3D structure from and Proteopedia for SPEG:
1U2H (3D)    
Secondary accessions: A8K0G6 A8MRU0 Q27J74 Q695L1 Q6FGA6 Q6ZQW1 Q6ZTL8 Q9P2P9
Alternative promoter usage, Alternative splicing: 4 isoforms:  Q15772-5   Q15772-3   Q15772-4   Q15772-1   (Produced by alternative splicing)

Explore the universe of human proteins at neXtProt for SPEG: NX_Q15772

Explore proteomics data for SPEG at MOPED

Post-translational modifications: 

  • May be autophosphorylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SPEG (Q15772) (see all 15)
     YTCKAVN  GAPLEIP  VSCKAEL  DFPPVFHI 


    See SPEG Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001166947.1  NP_005867.3  

    ENSEMBL proteins: 
     ENSP00000311684   ENSP00000393134   ENSP00000383902   ENSP00000410986   ENSP00000379926  
     ENSP00000406530   ENSP00000397514   ENSP00000414549   ENSP00000387344   ENSP00000379919  
     ENSP00000379917   ENSP00000379920   ENSP00000390353   ENSP00000379923  

    SPEG Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SPEG
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    Novus Biologicals SPEG Proteins
    Novus Biologicals SPEG Lysate
    Sino Biological Recombinant Protein for SPEG
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SPEG Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals SPEG Antibodies
    Abcam antibodies for SPEG
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for SPEG
    LSBio Antibodies in human, mouse, rat for SPEG

    SPEG Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: SPEG complex locus
    Trio family

    Selected InterPro protein domains (see all 11):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q15772

    ProtoNet protein and cluster: Q15772

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: SPEG_HUMAN, Q15772
    Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 9 Ig-like (immunoglobulin-like) domains
    Similarity: Contains 2 protein kinase domains


    SPEG 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPEG_HUMAN, Q15772
    Function: Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Induction: Isoform 3 is quickly down-regulated in response to vascular injury, when ASMC cells change from a
    quiescent to a proliferative phenotype

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    SPEG for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for SPEG:
     Decreased substrate adherent c  Decreased viability  Gemcitabine induced cell-death  Proliferating cells 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Speg):
     cardiovascular system  mortality/aging  muscle  respiratory system 

    SPEG for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPEG
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPEG

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

    miRNA
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    Block miRNA regulation of human, mouse, rat SPEG using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPEG (see all 59):
    hsa-let-7d hsa-miR-650 hsa-miR-449a hsa-let-7g hsa-miR-629* hsa-let-7a hsa-miR-378 hsa-miR-3612
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SPEG

    Gene Editing
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    OriGene ORF clones in mouse, rat for SPEG
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    GenScript: all cDNA clones in your preferred vector (see all 2): SPEG (NM_005876)
    Sino Biological Human cDNA Clone for SPEG
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPEG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPEG

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


    (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
    SPEG_HUMAN, Q15772: Isoform 3: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    plasma membrane3

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

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

    SPEG for ontologies           About GeneDecksing


    (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 SPEG
    Interactions:

        Search GeneGlobe Interaction Network for SPEG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for SPEG (Q157723 ENSP000003116844) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    HOXB4ENSP000003289284STRING: ENSP00000328928
    HOXC4ENSP000003059734STRING: ENSP00000305973
    HOXD4ENSP000003025484STRING: ENSP00000302548
    GPD2ENSP000003086104STRING: ENSP00000308610
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006468protein phosphorylation ----
    GO:0007517muscle organ development TAS8663449
    GO:0008285negative regulation of cell proliferation TAS8663449
    GO:0042692muscle cell differentiation ----

    SPEG for ontologies           About GeneDecksing



    (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 SPEG



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SPEG gene (2 alternative transcripts): 
    NM_001173476.1  NM_005876.4  

    Unigene Cluster for SPEG:

    SPEG complex locus
    Hs.21639  [show with all ESTs]
    Unigene Representative Sequence: NM_005876
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000312358(uc010fwg.3) ENST00000498378(uc002vlm.3) ENST00000435853
    ENST00000403148 ENST00000431523 ENST00000396698 ENST00000452101 ENST00000420132
    ENST00000464989(uc002vln.1) ENST00000451076 ENST00000409595 ENST00000497065
    ENST00000491248 ENST00000485813 ENST00000462545(uc002vlp.1) ENST00000463218
    ENST00000396688(uc002vlq.3) ENST00000496786
    miRNA
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    Block miRNA regulation of human, mouse, rat SPEG using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPEG (see all 59):
    hsa-let-7d hsa-miR-650 hsa-miR-449a hsa-let-7g hsa-miR-629* hsa-let-7a hsa-miR-378 hsa-miR-3612
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPEG
    Predesigned siRNA for gene silencing in human, mouse, rat SPEG
    Clone
    Products:
         
    OriGene clones in human, mouse for SPEG (see all 13)
    OriGene ORF clones in mouse, rat for SPEG
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPEG (NM_005876)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPEG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPEG
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SPEG
    OriGene qSTAR qPCR primer pairs in human, mouse for SPEG
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPEG
      QuantiTect SYBR Green Assays in human, mouse, rat SPEG
      QuantiFast Probe-based Assays in human, mouse, rat SPEG

    Additional mRNA sequence: 

    AB037718.1 AK097321.1 AK126500.1 AK128689.1 AK129604.1 AK289531.1 AL512705.1 AY603755.1 
    BC006346.2 CR542201.1 DQ395348.1 U57099.1 

    19 DOTS entries:

    DT.101963155  DT.111800  DT.100740226  DT.99998824  DT.405774  DT.100811020  DT.92018306  DT.99936259 
    DT.100695507  DT.91659691  DT.100016737  DT.120936721  DT.120936739  DT.99996464  DT.120936643  DT.75148350 
    DT.120936713  DT.120936716  DT.99935445 

    Selected AceView cDNA sequences (see all 87):

    AI952013 AB037718 CR619747 AY603755 AI669298 NM_005876 BM677138 AL512705 
    F36731 BM552361 BQ183525 AI860092 AK126500 BC006346 CR542201 AI288566 
    AL529926 AK128689 AI633024 BQ446337 AI869834 BQ668372 BQ893959 BM924151 

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


    SPEG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Smooth Muscle (Muscoskeletal System)
             Smooth muscle-like cells
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Gonad
             Primordial germ cell-like cells
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
    SPEG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPEG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.21639

    UniProtKB/Swiss-Prot: SPEG_HUMAN, Q15772
    Tissue specificity: Isoform 1 is preferentially expressed in striated muscle. Non-kinase form such as isoform 3 is
    predominantly expressed in the aorta. Isoform 3 appears to be expressed only in highly differentiated ASMC in
    normal vessel walls and down-regulated in dedifferentiated ASMC in vivo. In response to vascular injuries ASMC
    dedifferentiate and change from a quiescent and contractile phenotype to a proliferative and synthetic phenotype.
    This proliferation of vascular smooth muscle cells is one of the most prominent features of atherosclerosis

        Custom PCR Arrays for SPEG
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    QuantiFast Probe-based Assays in human, mouse, rat SPEG
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPEG

    (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 and fungi.

    Orthologs for SPEG gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Speg1 , 5 SPEG complex locus1, 5 87.24(n)1
    91.43(a)1
      1 (38.88 cM)5
    117901  NM_007463.41  NP_031489.41 
     753752975 
    chicken
    (Gallus gallus)
    Aves SPEG1 SPEG complex locus 71.23(n)
    68.01(a)
      429033  XM_003641642.2  XP_003641690.2 
    lizard
    (Anolis carolinensis)
    Reptilia SPEG6
    SPEG complex locus
    53(a)
    1 ↔ 1
    1(95241667-95323369)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia speg1 SPEG complex locus 57.95(n)
    55.24(a)
      100486621  XM_002933963.2  XP_002934009.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-195m20.11 si:ch211-195m20.1 56.5(n)
    52.84(a)
      563174  XM_686542.6  XP_691634.6 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-226
    Protein UNC-22, isoform f (unc-22) mRNA, complete ...
    4(a)
    1 → many
    IV(11972708-12011007) WBGene00006759
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MEK16
    Meiosis-specific serine/threonine protein kinase, ...
    23(a)
    1 → many
    XV(995018-996511) YOR351C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPEG gene
    STK17B2  DAPK22  MYLK22  TTN2  STK17A2  MYLK32  OBSCN2  DAPK32  
    MYLK42  DAPK12  MYLK2  
    Selected SIMAP similar genes for SPEG using alignment to 10 protein entries:     SPEG_HUMAN (see all proteins) (see all similar genes):
    CDK4    DKFZp686I10125    STK11    DAPK2    MYLK    STK17B
    MYLK4    RPS6KA2    STK17A    CAMK1D    CAMK2B    CDC2
    CAMK2D    DKFZp564L2416    MARK4    PNCK    KIAA0992    MST094

    SPEG 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), 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 SPEG (see all 1446)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0411104
    An ovarian mucinous carcinoma sample4--see VAR_0411102 R W mis40--------
    VAR_0411064
    A gastric adenocarcinoma sample4--see VAR_0411062 E D mis40--------
    VAR_0411124
    A gastric adenocarcinoma sample4--see VAR_0411122 V M mis40--------
    rs1123633441,2
    C,F--220297745(+) CAGAAC/TGAGGA 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1447364431,2
    --220297746(+) AGAATA/GAGGAT 1 -- us2k10--------
    rs1915780111,2
    --220297763(+) GAGGAA/GGCAAG 1 -- us2k10--------
    rs1485243251,2
    --220297783(+) AACATC/TCTCTG 1 -- us2k10--------
    rs729653131,2
    C,F--220297916(+) TCACAG/TGCAAT 1 -- us2k17Minor allele frequency- T:0.21NA CSA WA EA 365
    rs1816205751,2
    --220297960(+) CTTCAC/GTTGGT 1 -- us2k10--------
    rs1859062341,2
    --220297961(+) TTCACC/TTGGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPEG (220299568 - 220363009 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPEG (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721485CNV Deletion23290073
    esv2721486CNV Deletion23290073
    nsv508886CNV Insertion20534489
    dgv4438n71CNV Loss21882294
    nsv213401CNV Loss16902084
    dgv4437n71CNV Loss21882294
    nsv834544CNV Loss17160897
    nsv520958CNV Loss19592680
    nsv470518CNV Loss18288195
    nsv875875CNV Loss21882294

    Human Gene Mutation Database (HGMD): SPEG
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPEG
    DNA2.0 Custom Variant and Variant Library Synthesis for SPEG

    (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

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    13 diseases for SPEG:    About MalaCards
    streptococcal meningitis    scarlet fever    necrotizing fasciitis    erysipelas
    fasciitis    impetigo    toxic shock syndrome    arteriosclerosis
    pharyngitis    meningitis    uterine fibroid    atherosclerosis
    endotheliitis

    3 diseases from the University of Copenhagen DISEASES database for SPEG:
    Necrotizing fasciitis     Toxic shock syndrome     Pharyngitis

    SPEG for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPEG
    Human Genome Epidemiology (HuGE) Navigator: SPEG (3 documents)

    Export disorders for SPEG 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

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    PubMed articles for SPEG gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with SPEG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. APEG-1, a novel gene preferentially expressed in aortic smooth muscle cells, is down-regulated by vascular injury. (PubMed id 8663449)1, 2, 3, 9 Hsieh C.-M.... Lee M.-E. (J. Biol. Chem. 1996)
    2. The human desmin locus: gene organization and LCR-mediated transcriptional control. (PubMed id 16545539)1, 2, 9 Tam J.L.Y.... Antoniou M. (Genomics 2006)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. X-ray structure of engineered human aortic preferentially expressed protein-1 (APEG-1). (PubMed id 16354304)1, 2 Manjasetty B.A.... Bussow K. (BMC Struct. Biol. 2005)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    6. Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases. (PubMed id 15185077)1, 2 Sutter S.B.... Russell M.W. (Dev. Genes Evol. 2004)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    10. Striated muscle preferentially expressed genes alpha and beta are two serine/threonine protein kinases derived from the same gene as the aortic preferentially expressed gene-1. (PubMed id 10973969)3, 9 Hsieh C.M....Lee M.E. (J. Biol. Chem. 2000)

    (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)
    About This Section

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    Entrez Gene: 10290 HGNC: 16901 AceView: APEG1 Ensembl:ENSG00000072195 euGenes: HUgn10290
    ECgene: SPEG H-InvDB: SPEG

    (According to HUGE)
    About This Section

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    HUGE: KIAA1297

    (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

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    NameDescription
    PharmGKB entry for SPEG Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SPEG gene:
    Search GeneIP for patents involving SPEG

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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