Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

MYBPH Gene

protein-coding   GIFtS: 55
GCID: GC01M203136

Myosin Binding Protein H

(Previous name: myosin-binding protein H)
  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)
About This Section

Aliases
Myosin Binding Protein H1 2
Myosin-Binding Protein H1 2
H-protein2 3
myBP-H2
MyBP-H3

External Ids:    HGNC: 75521   Entrez Gene: 46082   Ensembl: ENSG000001330557   OMIM: 1607955   UniProtKB: Q132033   

Export aliases for MYBPH gene to outside databases

Previous GC identifers: GC01M200820 GC01M198566 GC01M199603 GC01M200425 GC01M199868 GC01M201403 GC01M174302


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

GeneCards Summary for MYBPH Gene: 
MYBPH (myosin binding protein H) is a protein-coding gene. Diseases associated with MYBPH include measles, and familial hypertrophic cardiomyopathy, and among its related super-pathways are Actin Nucleation by ARP-WASP Complex. GO annotations related to this gene include structural constituent of muscle. An important paralog of this gene is MYOM1.

UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203
Function: Binds to myosin; probably involved in interaction with thick myofilaments in the A-band




(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_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYBPH gene promoter:
         c-Fos   RP58   AML1a   AP-1   c-Jun   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYBPH promoter sequence
   Search SABiosciences Chromatin IP Primers for MYBPH

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


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M203136:  view genomic region     (about GC identifiers)

Start:
203,136,939 bp from pter      End:
203,144,942 bp from pter
Size:
8,004 bases      Orientation:
minus 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: MYBPH_HUMAN, Q13203 (See protein sequence)
Recommended Name: Myosin-binding protein H  
Size: 477 amino acids; 52050 Da
Secondary accessions: Q16886 Q86YC5

Explore the universe of human proteins at neXtProt for MYBPH: NX_Q13203

Explore proteomics data for MYBPH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13203

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

    MYBPH Protein Expression
    REFSEQ proteins: NP_004988.2  
    ENSEMBL proteins: 
     ENSP00000255416  

    Human Recombinant Protein Products for MYBPH: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MYBPH
    OriGene Protein Over-expression Lysate for MYBPH
    OriGene MassSpec for MYBPH 
    OriGene Custom Protein Services for MYBPH
    GenScript Custom Purified and Recombinant Proteins Services for MYBPH
    Novus Biologicals MYBPH Protein
    Novus Biologicals MYBPH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYBPH 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032982myosin filament IEA--

    MYBPH for ontologies           About GeneDecksing



    MYBPH Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MYBPH
    OriGene Custom Antibody Services for MYBPH
    GenScript Custom Superior Antibodies Services for MYBPH
    Novus Biologicals MYBPH Antibodies
    Abcam antibodies for MYBPH
    Cloud-Clone Corp. Antibodies for MYBPH 
    Search ThermoFisher Antibodies for MYBPH
    LSBio Antibodies in human, mouse, rat for MYBPH 

    Assay Products for MYBPH: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MYBPH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MYBPH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MYBPH 
    Cloud-Clone Corp. CLIAs for MYBPH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    MYBP: Myosin binding proteins

    5/6 InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q13203

    ProtoNet protein and cluster: Q13203

    3 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB003962 Fibronectin type III repeat signature
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203
    Similarity: Belongs to the immunoglobulin superfamily. MyBP family
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


    MYBPH 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: MYBPH_HUMAN, Q13203
    Function: Binds to myosin; probably involved in interaction with thick myofilaments in the A-band

         Genatlas biochemistry entry for MYBPH:
    myosin binding protein H

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008307structural constituent of muscle TAS8486381
         
    MYBPH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYBPH:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYBPH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYBPH

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYBPH
    1 QIAGEN miScript miRNA Assays for microRNA that regulate MYBPH:
    hsa-miR-21*
    SwitchGear 3'UTR luciferase reporter plasmidMYBPH 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MYBPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYBPH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MYBPH
    Sirion Biotech Customized adenovirus for overexpression of MYBPH

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MYBPH (see all 7)
    OriGene ORF clones in mouse, rat for MYBPH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MYBPH (NM_004997)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYBPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYBPH
    Sirion Biotech Customized lentivirus for stable overexpression of MYBPH 
                         Customized lentivirus expression plasmids for stable overexpression of MYBPH 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MYBPH
    Search LifeMap BioReagents cell lines for MYBPH
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPH


    (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 MYBPH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Actin Nucleation by ARP-WASP Complex
    RhoA Pathway0.35
    2G13 Signaling Pathway
    G13 Signaling Pathway

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MYBPH
        RhoA Pathway

    1 BioSystems Pathway for MYBPH
        G13 Signaling Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYBPH

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

    5/21 Interacting proteins for MYBPH (Q132031, 2, 3 ENSP000002554164) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYBPC2Q143243, ENSP000003503324I2D: score=1 STRING: ENSP00000350332
    ROCK1Q134642MINT-8329386 MINT-8378307
    TTNQ8WZ421EBI-5655165,EBI-681210
    MYBPC1ENSP000003548494STRING: ENSP00000354849
    MYBPC3ENSP000003821934STRING: ENSP00000382193
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006942regulation of striated muscle contraction TAS8486381
    GO:0007155cell adhesion IEA--

    MYBPH 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

    MYBPH for compounds           About GeneDecksing

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

    Browse Tocris compounds for MYBPH

    1 PharmGKB related drug/compound annotation for MYBPH gene    About this table
    Drug/compound PharmGKB Annotation
    aspirinCA  

    Search CenterWatch for drugs/clinical trials and news about MYBPH

    (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 MYBPH gene: 
    NM_004997.2  

    Unigene Cluster for MYBPH:

    Myosin binding protein H
    Hs.927  [show with all ESTs]
    Unigene Representative Sequence: BC044226
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000255416(uc001gzh.1)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYBPH
    1 QIAGEN miScript miRNA Assays for microRNA that regulate MYBPH:
    hsa-miR-21*
    SwitchGear 3'UTR luciferase reporter plasmidMYBPH 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MYBPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYBPH
    Clone
    Products:
         
    OriGene clones in human, mouse for MYBPH (see all 7)
    OriGene ORF clones in mouse, rat for MYBPH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MYBPH (NM_004997)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYBPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYBPH
    Sirion Biotech Customized lentivirus for stable overexpression of MYBPH 
                         Customized lentivirus expression plasmids for stable overexpression of MYBPH 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MYBPH
    OriGene qSTAR qPCR primer pairs in human, mouse for MYBPH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MYBPH
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYBPH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYBPH

    Additional mRNA sequence: 

    BC044226.1 L05606.1 

    3 DOTS entries:

    DT.440979  DT.213277  DT.86852212 

    24/30 AceView cDNA sequences (see all 30):

    BX281879 BM711318 BQ922099 AI143255 BM665885 L05606 NM_004997 BF338896 
    BQ435439 AI368147 BP432087 AA460489 AI351314 BC044226 BE857008 BE876681 
    AA453125 AA533198 AA779449 AA971239 AI038319 AA461058 AI374876 AI051059 

    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™, 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

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


    MYBPH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocyte Extraocular Muscles
             Human Skeletal Muscle Satellite Cells (HSkMSC)   
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Autopod
             limb/hindlimb/leg   
     
     Smooth Muscle (Muscoskeletal System)
             Human Bladder Smooth Muscle Cells (HBdSMC)   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   

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

    SOURCE GeneReport for Unigene cluster: Hs.927

    UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203
    Tissue specificity: Skeletal muscle

        SABiosciences Custom PCR Arrays for MYBPH
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MYBPH
    OriGene qSTAR qPCR primer pairs in human, mouse for MYBPH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MYBPH
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYBPH
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYBPH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPH

    (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 MYBPH gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mybph1 , 5 myosin binding protein H1, 5 85.95(n)1
    85.95(a)1
      1 (58.15 cM)5
    533111  NM_016749.21  NP_058029.21 
     1341934485 
    chicken
    (Gallus gallus)
    Aves MYBPH1 myosin binding protein H 64.69(n)
    56.04(a)
      421154  NM_001031028.1  NP_001026199.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    53(a)
    1 → many
    4(133145131-133170766)
    zebrafish
    (Danio rerio)
    Actinopterygii CK028281.12   -- 76.22(n)   321053  CK028281.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG149646
    --
    7(a)
    1 → many
    3L(3172817-3178580)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYBPH gene
    MYOM12  IGSF222  IGFN12  MYBPC22  MYBPC12  MYBPC32  MYBPHL2  MYOM32  
    MYOM22  
    8 SIMAP similar genes for MYBPH using alignment to 1 protein entry:     MYBPH_HUMAN:
    MYBPHL    MYBPC2    DKFZp451H115    DKFZp451B236    DKFZp451M091    DKFZp779M1050
    MYBPC3    MYBPC1

    MYBPH 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

    10/294 SNPs in MYBPH are shown (see all 294)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs730757251,2
    C,F--203137090(+) ACCAGC/TCTCTG 1 -- ut317Minor allele frequency- T:0.16WA NA CSA EA 366
    rs1387106351,2
    --203137186(+) TGTAGG/TCCTGG 1 -- ut310--------
    rs776338531,2
    F--203137265(+) AGCTCG/AGCTGC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs27885271,2
    C,F--203137387(+) ACTTCA/C/TGTACT 1 -- int111NA WA CSA EA 496
    rs1887746741,2
    --203137566(+) GACACA/CGGCAT 1 -- int10--------
    rs1926801431,2
    --203137567(+) ACACCA/GGCATC 1 -- int10--------
    rs1844894781,2
    --203137587(+) TGCAAC/TATCAC 1 -- int10--------
    rs777328721,2
    C--203137612(+) CATGCA/GTGCTA 1 -- int10--------
    rs1507490121,2
    --203137643(+) TGTGTC/TCACAG 1 -- int10--------
    rs1172389911,2
    C,F--203137758(+) ACCTGG/CCTCCT 1 -- ut311Minor allele frequency- C:0.05EA 120

    HapMap Linkage Disequilibrium report for MYBPH (203136939 - 203144942 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MYBPH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832370CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MYBPH
    DNA2.0 Custom Variant and Variant Library Synthesis for MYBPH

    (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: 160795    OMIM disorders: --

    6 diseases for MYBPH:    About MalaCards
    measles    familial hypertrophic cardiomyopathy    hypertrophic cardiomyopathy    essential hypertension
    hypertension    neuronitis


    MYBPH for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for MYBPH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    measles 45.2 1 15659756 (1)
    prolapse 38.9 5 16579921 (4), 12861146 (1)

    Genetic Association Database (GAD): MYBPH
    Human Genome Epidemiology (HuGE) Navigator: MYBPH (1 document)

    Export disorders for MYBPH 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 MYBPH gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with MYBPH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization. (PubMed id 8486381)1, 2, 3, 9 Vaughan K.T....Fischman D.A. (1993)
    2. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (2009)
    3. 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)
    4. Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. (PubMed id 10024460)1, 9 Gruen M. and Gautel M. (1999)
    5. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
    6. MYBPH, a transcriptional target of TTF-1, inhibits ROC K1, and reduces cell motility and metastasis. (PubMed id 22085929)1 Hosono Y....Takahashi T. (2012)
    7. MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA and reduces cell motility. (PubMed id 23068101)1 Hosono Y....Takahashi T. (2012)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    10. The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. (PubMed id 12154082)1 Welikson R.E. and Fischman D.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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
    Entrez Gene: 4608 HGNC: 7552 AceView: MYBPH Ensembl:ENSG00000133055 euGenes: HUgn4608
    ECgene: MYBPH H-InvDB: MYBPH

    (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 MYBPH 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 MYBPH gene:
    Search GeneIP for patents involving MYBPH

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MYBPH   OriGene RNAi products in human, mouse, rat for MYBPH  
     OriGene qPCR primer pairs and template standards for MYBPH   OriGene Protein Over-expression Lysate for MYBPH  
     OriGene MassSpec something-or-other for MYBPH   OriGene clones in human, mouse for MYBPH  
     OriGene qSTAR qPCR primer pairs in human, mouse for MYBPH   OriGene Purified Protein for MYBPH  
     OriGene ORF clones in mouse, rat for MYBPH   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MYBPH   OriGene Custom Protein Services for MYBPH  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MYBPH
     QIAGEN SeqTarget long-range PCR primers for resequencing MYBPH
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYBPH
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYBPH
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYBPH
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYBPH
     GenScript Custom Purified and Recombinant Proteins Services for MYBPH GenScript cDNA clones with any tag delivered in your preferred vector for MYBPH
     GenScript Custom Assay Services for MYBPH GenScript Custom Superior Antibodies Services for MYBPH
     GenScript Custom overexpressing Cell Line Services for MYBPH CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in MYBPH promoter
     Search Chromatin IP Primers for MYBPH
     RT2 qPCR Primer Assay in human, mouse, rat MYBPH
     GNC Network for MYBPH
     SABiosciences PCR Arrays including human, mouse, rat MYBPH
     Search Tocris compounds for MYBPH
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     MYBPH antibodies
     MYBPH proteins
     MYBPH lysates
     Antibodies for MYBPH
     See all of Abcam's Antibodies, Kits and Proteins for MYBPH
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for MYBPH
     Antibodies for MYBPH
     ELISAs for MYBPH
     CLIAs for MYBPH
     Search LifeMap BioReagents cell lines for MYBPH
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPH
     SwitchGear 3'UTR luciferase reporter plasmids for MYBPH
     SwitchGear Promoter luciferase reporter plasmids for MYBPH
     Search ThermoFisher Antibodies for MYBPH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYBPH
     inGenious Targeting Laboratory - Custom generated mouse model solutions for MYBPH
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYBPH
    Customized:
     lentivirus for stable overexpression of MYBPH
     lentivirus expression plasmids for stable overexpression of MYBPH
     adenovirus for overexpression of MYBPH
     LSBio Antibodies in human, mouse, rat for MYBPH
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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

    Hot genes      Disease genes      MYBPH gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4