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

SPEG Gene

protein-coding   GIFtS: 52
GCID: GC02P220299

SPEG complex locus

(Previous name: aortic preferentially expressed gene 1 )
(Previous symbol: APEG1)
 Explore 9 diseases affiliated with
SPEG via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SPEG    

Aliases
for SPEG gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SPEG Complex Locus1 2     Aortic Preferentially Expressed Protein 12 3
APEG11 2 3     APEG-12 3
BPEG1 2     EC 2.7.11.13 8
SPEGalpha1 2     MGC126761
SPEGbeta1 2     Nuclear Protein, Marker For Differentiated Aortic Smooth Muscle And
Down-Regulated With Vascular Injury2
Aortic Preferentially Expressed Gene 11 2     Striated Muscle Preferentially Expressed Protein Kinase2
KIAA12971 3     EC 2.7.118

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

Export aliases for SPEG gene to outside databases

Previous GC identifers: GC02P220007 GC02P212152


Summaries
for SPEG gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SPEG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SPEG gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Isoform 3: Nucleus
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

Post-translational modifications:

  • May be autophosphorylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15772

    • 4/15 DME Specific Peptides for SPEG (Q15772) (see all 15)
     YTCKAVN  GAPLEIP  VSCKAEL  DFPPVFHI 

    SPEG Protein expression data from MOPED and PaxDb:    About this image 
    SPEG Protein Expression
    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  

    Human Recombinant Protein Products for SPEG: 
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    OriGene Custom Protein Services for SPEG 
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    Novus Biologicals SPEG Proteins
    Novus Biologicals SPEG Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SPEG

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    SPEG for ontologies           About GeneDecksing



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    Abcam antibodies for SPEG 
    Uscn Antibodies for SPEG
    Search ThermoFisher Antibodies for SPEG

    Assay Products for SPEG: 
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    Uscn ELISAs and CLIAs for SPEG

    Protein Domains /
    Families
    for SPEG gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SPEG for domains           About GeneDecksing

    5/13 InterPro domains/families (see all 13):
     IPR003598 Ig_sub2
     IPR020675 Myosin_light_ch_kinase-rel
     IPR007110 Ig-like_dom
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q15772

    ProtoNet protein and cluster: Q15772

    2 Blocks protein families:
    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


    Function
    for SPEG gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IEA--
    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 - Customizable classic, inducible, and humanized mouse model solutions for SPEG 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPEG
    8/59 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPEG (see all 7)
    OriGene shRNA RFP: SPEG
    OriGene siRNA: SPEG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPEG
    Sirion Biotech Custom design and validation of potent shRNA sequences against SPEG 

    Gene Editing
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    Sirion Biotech Customized adenovirus for potent knockdown of SPEG

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPEG (see all 7)
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    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)
    Browse Sino Biological Human cDNA Clones
    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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    Search LifeMap BioReagents cell lines for SPEG
    Sirion Biotech Customized stable knockdown cell line services for SPEG 
    Sirion Biotech Customized inducible knockdown cell line services for SPEG

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


    Pathways & Interactions
    for SPEG gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPEG

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

    1 Interacting protein for SPEG (Q157723 ENSP000003116844) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007517muscle organ development TAS8663449
    GO:0008285negative regulation of cell proliferation TAS8663449
    GO:0042692muscle cell differentiation IEA--

    SPEG for ontologies           About GeneDecksing



    Drugs & Compounds
    for SPEG gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPEG
    Search CenterWatch for drugs/clinical trials and news about SPEG 

    Transcripts
    for SPEG gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/25 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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    8/59 QIAGEN miScript miRNA 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:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPEG (see all 7)
    OriGene shRNA RFP: SPEG
    OriGene siRNA: SPEG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPEG
    Sirion Biotech Custom design and validation of potent shRNA sequences against SPEG 
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPEG (see all 3)
    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
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPEG
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPEG

    Additional cDNA 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.120936721  DT.100016737  DT.120936739  DT.99996464  DT.120936643  DT.75148350 
    DT.120936713  DT.120936716  DT.99935445 

    24/87 AceView cDNA sequences (see all 87):

    AI288566 AI952013 F36731 BC006346 BM677138 AY603755 BM552361 NM_005876 
    CR542201 AL512705 CR619747 AB037718 AI669298 AI860092 AK126500 BQ183525 
    AK129604 BQ893959 AI921606 U57099 AL529926 AI633024 AI869834 AK128689 

    GeneLoc Exon Structure


    Expression
    for SPEG 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPEG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGTCCTGAC
    SPEG Expression
    About this image

    SPEG expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Smooth muscle-like cells (Generation of endoth...)
    Epiblast-like cells (Reconstitution of mo...)

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

    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

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    In Situ
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    Orthologs
    for SPEG 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
    This gene was present in the common ancestor of chordates.

    Orthologs for SPEG gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SPEG1 SPEG complex locus 64.35(n)
    59.23(a)    		   429033  XM_003641642.1  XP_003641690.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SPEG6
    		 --
    		 55(a)
    		 1 ↔ 1
    		 1(95242759-95323369)
    zebrafish
    (Danio rerio)    		 Actinopterygii si:ch211-195m20.11 si:ch211-195m20.1 54.8(n)
    50.73(a)    		   563174  XM_686542.5  XP_691634.5 


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

    Paralogs
    for SPEG gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPEG gene
    STK17B2  DAPK22  MYLK22  TTN2  MYLK32  STK17A2  OBSCN2  DAPK32  
    MYLK42  DAPK12  MYLK2  OBSL12  
    18/20 SIMAP similar genes for SPEG using alignment to 10 protein entries:     SPEG_HUMAN (see all proteins) (see all similar genes):
    CDK4    DKFZp686I10125    STK11    MYLK    DAPK2    STK17B
    MYLK4    RPS6KA2    STK17A    CAMK1D    CAMK2B    CDC2
    CAMK2D    DKFZp564L2416    MARK4    PNCK    KIAA0992    MST094

    SPEG for paralogs           About GeneDecksing



    Genomic Variants
    for SPEG gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/974 NCBI SNPs in SPEG are shown (see all 974)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1123633441,2
    		--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--------
    rs752739601,2
    		C--220297975(+) TCCTAC/GGGTAA 1 -- us2k10--------
    rs1436506811,2
    		--220298086(+) TGTTGC/TGTACA 1 -- us2k10--------
    rs1471994841,2
    		--220298089(+) TGCGTA/TCAAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPEG (220299568 - 220363009 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SPEG
         1 CNV: 0030

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    Disorders / Diseases
    for SPEG 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
    SPEG for disorders           About GeneDecksing

    9 diseases for SPEG:    About MalaCards
    necrotizing fasciitis    scarlet fever    streptococcal meningitis    fasciitis
    toxic shock syndrome    erysipelas    impetigo    arteriosclerosis
    atherosclerosis

    3 diseases from the University of Copenhagen DISEASES database for SPEG:
    Necrotizing fasciitis     Toxic shock syndrome     Pharyngitis
    Human Genome Epidemiology (HuGE) Navigator: SPEG (3 documents)

    Export disorders for SPEG gene to outside databases

    Publications
    for SPEG 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

    PubMed articles for SPEG gene, integrated from 9 sources (see all 19):
    (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. (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. (2006)
    3. X-ray structure of engineered human aortic preferentially expressed protein-1 (APEG-1). (PubMed id 16354304)1, 2 Manjasetty B.A.... Bussow K. (2005)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    5. 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. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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. (2000)
    9. 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. (2000)
    10. Functional genomics identifies therapeutic targets for MYC-driven cancer. (PubMed id 22623531)1 Toyoshima M....Grandori C. (2012)

    External Searches for SPEG gene

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10290 HGNC: 16901 AceView: APEG1 Ensembl:ENSG00000072195 euGenes: HUgn10290
    ECgene: SPEG H-InvDB: SPEG

    Other Databases showing SPEG gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1297

    Specialized Databases showing SPEG gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPEG Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SPEG gene

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



    Products
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    About This Section

     
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