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

MYOCD Gene

protein-coding   GIFtS: 58
GCID: GC17P012569

Myocardin

Alzheimer's & Parkinson's Diseases Congress
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(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

Aliases
myocardin1 2
MYCD2 3

External Ids:    HGNC: 160671   Entrez Gene: 936492   Ensembl: ENSG000001410527   OMIM: 6061275   UniProtKB: Q8IZQ83   
ORGUL members:         

Export aliases for MYOCD gene to outside databases

Previous GC identifers: GC17P012771 GC17P012510


(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 MYOCD Gene:
This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing
tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression
of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and
differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different
isoforms have been found for this gene.(provided by RefSeq, Sep 2009)

GeneCards Summary for MYOCD Gene: 
MYOCD (myocardin) is a protein-coding gene. Diseases associated with MYOCD include retroperitoneal leiomyosarcoma, and double outlet right ventricle. GO annotations related to this gene include transcription factor binding and protein domain specific binding. An important paralog of this gene is MKL1.

UniProtKB/Swiss-Prot: MYCD_HUMAN, Q8IZQ8
Function: Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the
canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the
potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth
muscle cell lineage (myogenesis) (By similarity)

Gene Wiki entry for MYOCD 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYOCD gene promoter:
         AP-1   ATF-2   MyoD   c-Jun   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYOCD promoter sequence
   Search SABiosciences Chromatin IP Primers for MYOCD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYOCD


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p12   HGNC cytogenetic band: 17p11.2

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P012569:  view genomic region     (about GC identifiers)

Start:
12,569,207 bp from pter      End:
12,672,266 bp from pter
Size:
103,060 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYCD_HUMAN, Q8IZQ8 (See protein sequence)
Recommended Name: Myocardin  
Size: 938 amino acids; 101997 Da
Subunit: Homodimer. Interacts with SRF, its association does not depend on specific DNA sequences for ternary
complex formation (By similarity). Interacts with MLLT7/FOXO4. Interacts (via C-terminal) with EP300 (via the
CREB-binding domain). Interacts with HDAC4 and HDAC5 (By similarity). Interacts with MEF2C (By similarity)
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q5UBU5 Q8N7Q1
Alternative splicing: 3 isoforms:  Q8IZQ8-1   Q8IZQ8-2   Q8IZQ8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYOCD: NX_Q8IZQ8

Explore proteomics data for MYOCD at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation regulates negatively the intrinsic myocardin transcriptional activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IZQ8

  • MYOCD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYOCD Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001139784.1  NP_001139785.1  NP_705832.1  

    ENSEMBL proteins: 
     ENSP00000462694   ENSP00000401678   ENSP00000341835   ENSP00000379311   ENSP00000400148  

    Human Recombinant Protein Products for MYOCD: 
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    OriGene Protein Over-expression Lysate for MYOCD
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    Novus Biologicals MYOCD Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYOCD 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA14970199

    MYOCD for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for MYOCD 

    Assay Products for MYOCD: 
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    Cloud-Clone Corp. ELISAs for MYOCD 
    Cloud-Clone Corp. CLIAs for MYOCD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR003034 SAP_dom
     IPR004018 RPEL_repeat

    Graphical View of Domain Structure for InterPro Entry Q8IZQ8

    ProtoNet protein and cluster: Q8IZQ8

    1 Blocks protein domain: IPB003034 DNA-binding SAP

    UniProtKB/Swiss-Prot: MYCD_HUMAN, Q8IZQ8
    Domain: The C-terminal region contains a general transcription activation domain. The N-terminal region,
    comprising a basic and a Gln-rich domain, confers transcriptional potency and specificity by mediating
    association with the MADS box of SRF. The basic domain may be required for nuclear localization. The SAP domain
    is important for transactivation and ternary complex formation (By similarity)
    Similarity: Contains 3 RPEL repeats
    Similarity: Contains 1 SAP domain


    MYOCD 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYCD_HUMAN, Q8IZQ8
    Function: Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the
    canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the
    potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth
    muscle cell lineage (myogenesis) (By similarity)
    Induction: Up-regulated during heart failure

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001046core promoter sequence-specific DNA binding IDA19797053
    GO:0001076RNA polymerase II transcription factor binding transcription factor activity ISS--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA--
    GO:0003676nucleic acid binding ----
    GO:0003713transcription coactivator activity IEA--
         
    MYOCD for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYOCD:
     Decreased influenza A virus in 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Myocd):
     cardiovascular system  embryogenesis  growth/size  homeostasis/metabolism  mortality/aging 
     muscle  normal 

    MYOCD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MYOCD: Myocdtm1.1Msp Myocdtm1Eno

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYOCD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYOCD

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

    miRNA
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    8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate MYOCD (see all 44):
    hsa-miR-124* hsa-miR-4317 hsa-miR-513a-5p hsa-miR-485-3p hsa-miR-128 hsa-miR-139-5p hsa-miR-519a hsa-miR-9
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOCD


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYOCD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SRF and miRs in Smooth Muscle Differentiation and Proliferation
    SRF and miRs in Smooth Muscle Differentiation and Proliferation


    1 BioSystems Pathway for MYOCD
        SRF and miRs in Smooth Muscle Differentiation and Proliferation


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYOCD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/24 Interacting proteins for MYOCD (Q8IZQ81, 3 ENSP000003418354) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRFP118311, 3, ENSP000002653544EBI-493384,EBI-493034 I2D: score=4 STRING: ENSP00000265354
    MKL1Q969V63, ENSP000003478474I2D: score=2 STRING: ENSP00000347847
    GSK3BP498413, ENSP000003248064I2D: score=1 STRING: ENSP00000324806
    HIF1ANQ9NWT63, ENSP000002991634I2D: score=1 STRING: ENSP00000299163
    KDM3AQ9Y4C13, ENSP000003236594I2D: score=1 STRING: ENSP00000323659
    About this table

    Gene Ontology (GO): 5/44 biological process terms (GO ID links to tree view) (see all 44):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001560regulation of cell growth by extracellular stimulus IEA--
    GO:0001570vasculogenesis IEA--
    GO:0001666response to hypoxia IEP19098903
    GO:0003231cardiac ventricle development IEA--

    MYOCD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYOCD for compounds           About GeneDecksing

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

    Browse Tocris compounds for MYOCD (MYCD)

    3 Novoseek inferred chemical compound relationships for MYOCD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0.329 4 16614312 (1), 20388650 (1), 15256479 (1), 15913645 (1)
    nitric oxide 0 1 17913848 (1)
    retinoic acid 0 1 15231515 (1)

    Search CenterWatch for drugs/clinical trials and news about MYOCD / MYCD

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYOCD gene (3 alternative transcripts): 
    NM_001146312.1  NM_001146313.1  NM_153604.2  

    Unigene Cluster for MYOCD:

    Myocardin
    Hs.567641  [show with all ESTs]
    Unigene Representative Sequence: NM_001146312
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000579237 ENST00000425538(uc002gno.2 uc002gnn.2 uc002gnq.2)
    ENST00000343344 ENST00000395988(uc002gnp.1) ENST00000443061

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYOCD
    8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate MYOCD (see all 44):
    hsa-miR-124* hsa-miR-4317 hsa-miR-513a-5p hsa-miR-485-3p hsa-miR-128 hsa-miR-139-5p hsa-miR-519a hsa-miR-9
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MYOCD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYOCD
    Clone
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    OriGene clones in human, mouse for MYOCD (see all 18)
    OriGene ORF clones in mouse, rat for MYOCD
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    GenScript: all cDNA clones in your preferred vector (see all 3): MYOCD (NM_153604)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYOCD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYOCD
    Sirion Biotech Customized lentivirus for stable overexpression of MYOCD 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYOCD

    Additional mRNA sequence: 

    AF532596.1 AK092562.1 AK095846.1 AK096753.1 AK097821.1 AK128608.1 AK292885.1 AY764180.1 
    BC126307.1 BC143391.1 BX640673.1 

    7 DOTS entries:

    DT.91869093  DT.101978090  DT.120963981  DT.442336  DT.100022414  DT.40269678  DT.101968799 

    24/61 AceView cDNA sequences (see all 61):

    BM698841 AK096753 BX640673 AK097821 NM_153604 AF532596 AW469178 AA143012 
    AI313447 AA708873 AK095846 AI684965 BQ029685 AI784583 BX098123 AI972424 
    AI093327 BM821591 AI148480 AI888595 BQ000229 CD556275 BQ882395 AI452798 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MYOCD    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                                          -               
    SP2:                                                                                          
    SP3:                    -                                                                     
    SP4:                                                                                          


    ECgene alternative splicing isoforms for MYOCD

    (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

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


    MYOCD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/40 selected tissues (see all 40) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 7 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Neo-Urinary Conduit
             Smooth muscle-like cells ( Generation of endothelial progenitor cells and smooth...
             smooth muscle ; smooth muscle cells   
     
     Epithelium
             vagina ; squamous epithelial cells   
             corneal epithelial basal cells   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
             heart muscle ; myocytes   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

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

    SOURCE GeneReport for Unigene cluster: Hs.567641

    UniProtKB/Swiss-Prot: MYCD_HUMAN, Q8IZQ8
    Tissue specificity: Expressed in heart, aorta, and in smooth muscle cell-containing tissues: stomach, bladder,
    small intestine, colon, lung, placenta and uterus. Very faint expression in prostate and skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Arrays including MYOCD: 
              Cell Surface Markers in human mouse rat
              Angiogenic Growth Factors in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYOCD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOCD

    (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 animals.

    Orthologs for MYOCD gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myocd1 , 5 myocardin1, 5 83.18(n)1
    84(a)1
      11 (40.42 cM)5
    2143841  NM_145136.41  NP_660118.31 
     651765615 
    chicken
    (Gallus gallus)
    Aves MYOCD1 myocardin 68.04(n)
    67(a)
      427790  NM_001080715.1  NP_001074184.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYOCD6
    --
    Uncharacterized protein
    62(a)
    33(a)
    1 ↔ 1
    possible ortholog
    2(108622317-108750010)
    GL343279.1(1116031-1133119)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003317251 myocardin-like 55.73(n)
    51.88(a)
      100331725  XM_002663856.2  XP_002663902.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mrtf6
    Myocardin-related transcription factor
    9(a)
    1 → many
    3L(2717615-2766480)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYOCD gene
    MKL12  MKL22  
    3 SIMAP similar genes for MYOCD using alignment to 2 protein entries:     MYCD_HUMAN (see all proteins):
    DKFZp686O15128    MKL1    MKL2

    MYOCD 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) 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

    10/2325 SNPs in MYOCD are shown (see all 2325)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1392845121,2
    Cuntested112631790(+) AGATGC/TGGGGA 6 A V mis11Minor allele frequency- T:0.00NA 4550
    rs668530471,2
    C--12514138(+) CCCCG-/CTTTTGA 2 -- int10--------
    rs1407837551,2
    C--12556362(+) ATGCCA/CTCTCC 2 -- us2k10--------
    rs1501094831,2
    --12556546(+) TAAAGC/TGGTAA 2 -- us2k10--------
    rs1386047801,2
    --12556621(+) GTACTC/TGGGCG 2 -- us2k10--------
    rs12338491,2
    C,F,A,H--12556695(+) AGCCCT/CGCTGA 2 -- us2k113Minor allele frequency- C:0.40NS EA NA WA CSA 790
    rs1145133691,2
    C,F--12556783(+) TTAAGC/GCACTA 2 -- us2k11Minor allele frequency- G:0.02WA 118
    rs802112701,2
    C,F--12556791(+) CTACAT/CTCGTG 2 -- us2k13Minor allele frequency- C:0.09CSA WA EA 240
    rs753852891,2
    --12556802(+) GTAATC/TTGTTA 2 -- us2k10--------
    rs12338501,2
    C,F,A,H--12556834(+) GTTACG/ATAATC 2 -- us2k1 tfbs311Minor allele frequency- A:0.47NA WA CSA EA 374

    HapMap Linkage Disequilibrium report for MYOCD (12569207 - 12672266 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MYOCD:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2715663CNV Deletion23290073
    nsv524458CNV Loss19592680
    esv34095CNV Loss18971310


    Human Gene Mutation Database (HGMD): MYOCD
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MYOCD
    DNA2.0 Custom Variant and Variant Library Synthesis for MYOCD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606127    OMIM disorders: --

    20 diseases for MYOCD:    About MalaCards
    retroperitoneal leiomyosarcoma    double outlet right ventricle    leiomyosarcoma    fainting
    myocarditis    hypertrophic cardiomyopathy    dilated cardiomyopathy    vascular disease
    atherosclerosis    nasopharyngitis    alzheimer's disease    hypoxia
    hypertension    cerebritis    cervicitis    ovarian cancer
    leukemia    endotheliitis    hepatitis    prostatitis


    MYOCD for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for MYOCD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertrophy 32.5 7 16556869 (4), 18204489 (1)
    atherosclerosis 28.9 1 19237536 (1)
    alzheimers disease 15.8 1 19237536 (1)
    leukemia 0 2 14970199 (1), 16556869 (1)
    cardiomyopathy 0 1 12920479 (1)
    tumors 0 7 17495540 (2), 19952936 (2), 19276386 (1), 17292825 (1)

    Genetic Association Database (GAD): MYOCD
    Human Genome Epidemiology (HuGE) Navigator: MYOCD (6 documents)

    Export disorders for MYOCD 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

    PubMed articles for MYOCD gene, integrated from 9 sources (see all 139):
    (articles sorted by number of sources associating them with MYOCD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Potentiation of serum response factor activity by a family of myocardin-related transcription factors. (PubMed id 12397177)1, 2, 3, 9 Wang D.-Z.... Olson E.N. (2002)
    2. Myocardin is a critical serum response factor cofactor in the transcriptional program regulating smooth muscle cell differentiation. (PubMed id 12640126)1, 2, 9 Du K.L.... Parmacek M.S. (2003)
    3. Phenotypic modulation of smooth muscle cells through interaction of Foxo4 and myocardin. (PubMed id 16054032)1, 2, 9 Liu Z.-P.... Olson E.N. (2005)
    4. Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factor. (PubMed id 11439182)1, 3, 9 Wang D....Olson E.N. (2001)
    5. Activation of cardiac and smooth muscle-specific genes in primary human cells after forced expression of human myocardin. (PubMed id 15907818)1, 2, 9 van Tuyn J....Atsma D.E. (2005)
    6. Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy - study in a genetically homogeneous population. (PubMed id 18028454)1, 4, 9 Kontaraki J.E....Vardas P.E. (2008)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. Response to methadone maintenance treatment is associ ated with the MYOCD and GRM6 genes. (PubMed id 20560679)1, 4 Fonseca F....Torrens M. (2010)
    9. Expression and functional activity of four myocardin isoforms. (PubMed id 20385216)1, 2 Imamura M....Miano J.M. (2010)
    10. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 93649 HGNC: 16067 AceView: MYOCD Ensembl:ENSG00000141052 euGenes: HUgn93649
    ECgene: MYOCD H-InvDB: MYOCD

    (According to HUGE)
    About This Section
      --

    (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 MYOCD Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYOCD gene:
    Search GeneIP for patents involving MYOCD

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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