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MYH7B Gene

protein-coding   GIFtS: 56
GCID: GC20P033565

Myosin, Heavy Chain 7B, Cardiac Muscle, Beta

(Previous names: myosin, heavy polypeptide 7B, cardiac muscle, beta)
  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
Myosin, Heavy Chain 7B, Cardiac Muscle, Beta1 2     KIAA15123 5
Myosin, Heavy Polypeptide 7B, Cardiac Muscle, Beta1 2     MHC142
Antigen MLAA-212 3     myosin-7B2
Myosin Heavy Chain 7B, Cardiac Muscle Beta Isoform2 3     U937-Associated Antigen2
Slow A MYH142 3     Myosin Cardiac Muscle Beta Chain3
MYH142 5     

External Ids:    HGNC: 159061   Entrez Gene: 576442   Ensembl: ENSG000000788147   OMIM: 6099285   UniProtKB: A7E2Y13   

Export aliases for MYH7B gene to outside databases

Previous GC identifers: GC20P033325 GC20P034231 GC20P034278 GC20P033026 GC20P030322


(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 MYH7B Gene:
The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene
encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a
globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad
repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy
chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the
full-length nature of these variants is not determined. (provided by RefSeq, Mar 2010)

GeneCards Summary for MYH7B Gene:
MYH7B (myosin, heavy chain 7B, cardiac muscle, beta) is a protein-coding gene. Diseases associated with MYH7B include left ventricular noncompaction 1, with or without congenital heart defects, and acute monocytic leukemia. GO annotations related to this gene include motor activity and actin binding. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH7B_HUMAN, A7E2Y1
Function: Involved in muscle contraction

summary for MYH7B Gene:
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding
and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),
almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain
that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts
with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory
myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.
Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is
involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a
contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by
intracellular Ca2+ concentrations.

Gene Wiki entry for MYH7B 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_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYH7B gene promoter:
         AML1a   Ik-3   Arnt   FAC1   STAT3   Zic3   Pax-4a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYH7B promoter sequence
   Search Chromatin IP Primers for MYH7B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH7B


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

Entrez Gene cytogenetic band: 20q11.22   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11

MYH7B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH7B gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P033565:  view genomic region     (about GC identifiers)

Start:
33,543,704 bp from pter      End:
33,590,240 bp from pter
Size:
46,537 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MYH7B_HUMAN, A7E2Y1 (See protein sequence)
Recommended Name: Myosin-7B  
Size: 1941 amino acids; 221388 Da
Subunit: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain
subunits (MLC) and 2 regulatory light chain subunits (MLC-2) (By similarity)
Developmental stage: Found in fetal liver and brain
Miscellaneous: Expression does not vary in normal patients compared to patients with acute monocytic leukemia
Miscellaneous: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase
Caution: This protein sequence has been named 'Slow A' MYH14 (PubMed:11919279), but it also appears also as 'Slow
B' MYH15 within the reference
Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-7
(MYO7)
Sequence caution: Sequence=AAI51243.1; Type=Erroneous initiation; Sequence=BAA96036.2; Type=Erroneous initiation;
Sequence=CAI19310.2; Type=Erroneous gene model prediction; Sequence=CAI43047.2; Type=Erroneous gene model
prediction;
Secondary accessions: Q5JVW7 Q6NT44 Q6NT57 Q6WG75 Q96I57 Q9NWE2 Q9P216
Alternative splicing: 3 isoforms:  A7E2Y1-1   A7E2Y1-2   A7E2Y1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYH7B: NX_A7E2Y1

Explore proteomics data for MYH7B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYH7B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065935.3  
    ENSEMBL proteins: 
     ENSP00000262873   ENSP00000395858   ENSP00000409103   ENSP00000391939   ENSP00000412594  
     ENSP00000396368  
    Reactome Protein details: A7E2Y1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MYHII: Myosins / Myosin superfamily : Class II

    Selected InterPro protein domains (see all 7):
     IPR027401 Myosin-like_IQ_dom
     IPR015650 Myosin_1/23/4/6/7/8/13/15
     IPR004009 Myosin_N
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS

    Graphical View of Domain Structure for InterPro Entry A7E2Y1

    ProtoNet protein and cluster: A7E2Y1

    UniProtKB/Swiss-Prot: MYH7B_HUMAN, A7E2Y1
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain


    MYH7B 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: MYH7B_HUMAN, A7E2Y1
    Function: Involved in muscle contraction

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003774motor activity IEA--
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    MYH7B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYH7B:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYH7B
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    miRTarBase miRNAs that target MYH7B:
    hsa-mir-124-3p (MIRT022547)

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    1 qRT-PCR Assays for microRNA that regulate MYH7B:
    hsa-miR-492
    SwitchGear 3'UTR luciferase reporter plasmidMYH7B 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYH7B_HUMAN, A7E2Y1: Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    mitochondrion3
    peroxisome2
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane IEA--
    GO:0016459myosin complex ----
    GO:0032982myosin filament IEA--

    MYH7B 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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    SuperPaths for MYH7B About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    2Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    3RhoGDI Pathway
    Fc-GammaR-Mediated Phagocytosis in Macrophages0.33
    RhoGDI Pathway0.33
    4Clathrin derived vesicle budding
    Membrane Trafficking0.32
    Translocation of GLUT4 to the Plasma Membrane0.32
    5Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYH7B (see all 13)
        RhoA Pathway
    Factors Promoting Cardiogenesis in Vertebrates
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex

    1 Reactome Pathway for MYH7B
        Translocation of GLUT4 to the plasma membrane


    1 Kegg Pathway  (Kegg details for MYH7B):
        Tight junction


    MYH7B for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYH7B
    Interactions:

        Search GeneGlobe Interaction Network for MYH7B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYH7B (A7E2Y11, 3 ENSP000002628734) via UniProtKB, MINT, STRING, and/or I2D (see all 99)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    SMYD1Q8NB121EBI-2880253,EBI-8463848
    CGNENSP000002716364STRING: ENSP00000271636
    MYBPC1ENSP000003548494STRING: ENSP00000354849
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016192vesicle-mediated transport ----

    MYH7B 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 

    Compounds for MYH7B available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTSSelective inhibitor of skeletal muscle myosin II ATPase activity[1576-37-0]
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)[1177356-70-5]
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (+-)-BlebbistatinSelective inhibitor of myosin II ATPase activity[674289-55-5]



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MYH7B gene: 
    NM_020884.4  

    Unigene Cluster for MYH7B:

    Myosin, heavy chain 7B, cardiac muscle, beta
    Hs.414122  [show with all ESTs]
    Unigene Representative Sequence: NM_020884
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262873(uc002xbi.2) ENST00000470929(uc010gfa.1) ENST00000481922
    ENST00000446156 ENST00000453028 ENST00000435272 ENST00000433934 ENST00000456649

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate MYH7B:
    hsa-miR-492
    SwitchGear 3'UTR luciferase reporter plasmidMYH7B 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat MYH7B

    Additional mRNA sequence: 

    AB040945.2 BC007808.1 BC069327.1 BC069406.1 BC151242.1 

    11 DOTS entries:

    DT.100038434  DT.426774  DT.91999887  DT.91745239  DT.91745251  DT.95378665  DT.91745247  DT.91745237 
    DT.91745244  DT.91745245  DT.91745250 

    Selected AceView cDNA sequences (see all 72):

    AJ709100 BX281886 AU117776 CD244305 BF926901 BC069327 BC069406 AB040945 
    AI638757 BG189675 BX413650 BG219246 BE672319 BM723903 BG210297 AW078595 
    AW206885 BF348318 BC007808 AI160292 BG218249 BG189104 BG192213 AK000947 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYH7B (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                        -   
    SP5:                                                                                                                                                        -   

    ExUns: 22 ^ 23a · 23b · 23c · 23d
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:        -                     


    ECgene alternative splicing isoforms for MYH7B

    (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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    MYH7B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGGAAACCC
    MYH7B Expression
    About this image


    MYH7B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Skeletal Muscle (Muscoskeletal System)
             Multinuclear Myocyte Extraocular Muscles
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
     
     Eye (Sensory Organs)
             Lens
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    MYH7B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYH7B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.414122

    UniProtKB/Swiss-Prot: MYH7B_HUMAN, A7E2Y1
    Tissue specificity: Expressed in heart, skeletal muscle, testis, and all specific brain regions examined. Slightly
    lower expression was detected in ovary and kidney, and intermediate expression was detected in lung, pancreas,
    spleen and liver

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    In Situ
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    (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 MYH7B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh7b1 , 5 myosin, heavy chain 7B, cardiac muscle, beta1, 5 89.22(n)1
    96.14(a)1
      2 (77.26 cM)5
    6689401  NM_001085378.21  NP_001078847.11 
     1556112125 
    chicken
    (Gallus gallus)
    Aves MYH7B1 myosin, heavy chain 7B, cardiac muscle, beta 78.36(n)
    79.63(a)
      395279  NM_204587.1  NP_989918.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYH7B6
    myosin, heavy chain 7B, cardiac muscle, beta
    79(a)
    1 ↔ 1
    4(135420905-135474809)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia myh7b1 myosin, heavy chain 7B, cardiac muscle, beta 72.33(n)
    78.26(a)
      100486122  XM_002932893.2  XP_002932939.2 
    zebrafish
    (Danio rerio)
    Actinopterygii myh71 myosin, heavy chain 7, cardiac muscle, beta 69.47(n)
    72.3(a)
      100534858  XM_005162111.1  XP_005162168.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mhc6
    Myosin heavy chain
    52(a)
    1 → many
    2L(16766737-16788766)
    worm
    (Caenorhabditis elegans)
    Secernentea myo-31 myo-3 53.78(n)
    48.76(a)
      179676  NM_073664.5  NP_506065.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO16
    Type II myosin heavy chain, required for wild-type...
    28(a)
    1 → many
    VIII(151666-157452) YHR023W


    ENSEMBL Gene Tree for MYH7B (if available)
    TreeFam Gene Tree for MYH7B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYH7B gene
    MYH82  MYH12  MYH22  MYH112  MYH142  MYH92  MYH102  MYH132  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    Selected SIMAP similar genes for MYH7B using alignment to 6 protein entries:     MYH7B_HUMAN (see all proteins) (see all similar genes):
    MYH2    MYH4    MYH8    MYH1    MYH7    MYH15
    MYH3    MYH6    MYH13    MYO19    MYH16    MYH9
    MYO1E    MYH11    MYO10    MYH14    MYO5C    CGN

    MYH7B 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 MYH7B (see all 1481)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114678781,2
    C,F--30325665(+) CTTTC-/T/TT  
            
    TTTTT
    1 -- int12NA CSA 4
    rs114786291,2
    C--30343228(+) CCCCCT/-ACCCC 1 -- int1 trp31Minor allele frequency- -:0.50NA 2
    rs72672831,2
    C--30348033(+) TCACGA/GAAAAA 1 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs579964161,2
    C--30358558(+) AAAAA-/A/AA  
            
    GAATT
    1 -- int11NA 2
    rs615018491,2
    C--30361387(+) CCAAAC/GTTTGC 1 -- int10--------
    rs2008521721,2
    --33544936(+) TTAAA-/AGAGAGA 1 -- us2k10--------
    rs1416604131,2
    --33545114(+) TCCATA/GAGCCC 1 -- us2k10--------
    rs1120349341,2
    F--33545135(+) ACAACG/TCTGAA 1 -- us2k12Minor allele frequency- T:0.50CSA 4
    rs350244511,2
    C,F--33545271(-) CACACC/GTGGCC 1 -- us2k112Minor allele frequency- G:0.21NS NA CSA WA EA 550
    rs1909124941,2
    --33545287(+) TCACTC/TGTGTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYH7B (33543704 - 33590240 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MYH7B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3362CNV Insertion18451855
    nsv833962CNV Loss17160897
    nsv912860CNV Gain21882294

    Human Gene Mutation Database (HGMD): MYH7B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH7B
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH7B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609928    OMIM disorders: --

    10 diseases for MYH7B:    
    About MalaCards
    left ventricular noncompaction 1, with or without congenital heart defects    acute monocytic leukemia    gallbladder cancer    monocytic leukemia
    myocarditis    dilated cardiomyopathy    coronary artery disease    melanoma
    leukemia    breast cancer


    MYH7B for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYH7B
    Human Genome Epidemiology (HuGE) Navigator: MYH7B (7 documents)

    Export disorders for MYH7B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYH7B gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with MYH7B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolutionary implications of three novel members of the human sarcomeric myosin heavy chain gene family. (PubMed id 11919279)1, 2, 3 Desjardins P.R....Stedman H.H. (Mol. Biol. Evol. 2002)
    2. A genome-wide association study of the Protein C anticoagulant pathway. (PubMed id 22216198)1, 4 Athanasiadis G....Soria J.M. (PLoS ONE 2011)
    3. Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study. (PubMed id 20224305)1, 4 Debniak T....LubiA8ski J. (Melanoma Res. 2010)
    4. Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population. (PubMed id 20520619)1, 4 Srivastava K....Mittal B. (J. Hum. Genet. 2010)
    5. 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)
    6. Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. (PubMed id 18634034)1, 4 Hu Z....Shen H. (Hum. Mutat. 2009)
    7. Evolution of sarcomeric myosin heavy chain genes: evidence from fish. (PubMed id 15014174)1, 3 McGuigan K....Postlethwait J.H. (Mol. Biol. Evol. 2004)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57644 HGNC: 15906 AceView: MYH7B Ensembl:ENSG00000078814 euGenes: HUgn57644
    ECgene: MYH7B Kegg: 57644 H-InvDB: MYH7B

    (According to HUGE)
    About This Section

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    HUGE: KIAA1512

    (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 MYH7B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYH7B gene:
    Search GeneIP for patents involving MYH7B

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