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    MYH7B myosin heavy chain 7B [ Homo sapiens (human) ]

    Gene ID: 57644, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MYH7Bprovided by HGNC
    Official Full Name
    myosin heavy chain 7Bprovided by HGNC
    Primary source
    HGNC:HGNC:15906
    See related
    Ensembl:ENSG00000078814 MIM:609928; AllianceGenome:HGNC:15906
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MHC14; MYH14; lncMYH7b
    Summary
    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]
    Expression
    Biased expression in heart (RPKM 13.9), testis (RPKM 3.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYH7B in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34955868..35002437)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36676523..36723074)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33543671..33590240)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33450836-33451387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12851 Neighboring gene gamma-glutamyltransferase 7 Neighboring gene acyl-CoA synthetase short chain family member 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33508643-33509842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17771 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:33554901-33555058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33568001-33568552 Neighboring gene glutathione synthetase Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33571861-33572412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33574067-33574618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33573515-33574066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33586565-33587064 Neighboring gene MPRA-validated peak4198 silencer Neighboring gene microRNA 499a Neighboring gene microRNA 499b Neighboring gene transient receptor potential cation channel subfamily C member 4 associated protein Neighboring gene RNA, U6 small nuclear 407, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17773 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:33678296-33678855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12853 Neighboring gene MMP24-AS1-EDEM2 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33689161-33689662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33689663-33690162 Neighboring gene small nucleolar RNA SNORD56 Neighboring gene ER degradation enhancing alpha-mannosidase like protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Distinct effects of two hearing loss-associated mutations in the sarcomeric myosin MYH7b. Lee LA, et al. J Biol Chem, 2023 May. PMID 36963494, Free PMC Article
    2. Functional divergence of the sarcomeric myosin, MYH7b, supports species-specific biological roles. Lee LA, et al. J Biol Chem, 2023 Jan. PMID 36334627, Free PMC Article
    3. Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population. Srivastava K, et al. J Hum Genet, 2010 Aug. PMID 20520619
    4. Myosin 7b is a regulatory long noncoding RNA (lncMYH7b) in the human heart. Broadwell LJ, et al. J Biol Chem, 2021 Jan-Jun. PMID 33895132, Free PMC Article
    5. Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. Esposito T, et al. Orphanet J Rare Dis, 2013 Jun 21. PMID 23800289, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Distinct effects of two hearing loss-associated mutations in the sarcomeric myosin MYH7b.
      Title: Distinct effects of two hearing loss-associated mutations in the sarcomeric myosin MYH7b.
    2. Functional divergence of the sarcomeric myosin, MYH7b, supports species-specific biological roles.
      Title: Functional divergence of the sarcomeric myosin, MYH7b, supports species-specific biological roles.
    3. Myosin 7b is a regulatory long noncoding RNA (lncMYH7b) in the human heart.
      Title: Myosin 7b is a regulatory long noncoding RNA (lncMYH7b) in the human heart.
    4. The actin-based motor myosin-7b (Myo7b) promotes the accumulation of intermicrovillar adhesion complex (IMAC components at microvillar tips. Myo7b is highly enriched at the tips of microvilli in both kidney and intestinal brush borders, and loss of Myo7b in differentiating intestinal epithelial cells disrupts intermicrovillar adhesion and, thus, brush border assembly.
      Title: Myosin-7b Promotes Distal Tip Localization of the Intermicrovillar Adhesion Complex.
    5. Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. [MYH7B]
      Title: Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population.
    8. Data suggest that transcription and alternative splicing uncouple the level of expression of MYH7b and miR-499 when their coexpression is not required.
      Title: Uncoupling of expression of an intronic microRNA and its myosin host gene by exon skipping.
    9. MYH7b, the ortholog of slow myosin 2 (SM2) of frogs and birds, is detected as mRNA in heart, slow muscles and extraocular muscles. MYH7b protein is detected only in a subset of fibers, corresponding to slow-tonic fibers, in extraocular muscles.
      Title: Two novel/ancient myosins in mammalian skeletal muscles: MYH14/7b and MYH15 are expressed in extraocular muscles and muscle spindles.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of the Protein C anticoagulant pathway.
    EBI GWAS Catalog
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC96928, MGC96940

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in myosin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    myosin-7B
    Names
    U937-associated antigen
    antigen MLAA-21
    myosin, heavy chain 7B, cardiac muscle, beta
    myosin, heavy polypeptide 7B, cardiac muscle, beta
    slow A MYH14

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016984.2 RefSeqGene

      Range
      4968..51537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020884.7 → NP_065935.4  myosin-7B

      Status: REVIEWED

      Source sequence(s)
      AL132825, AL133324, BC007808, BC151242, DB484143
      Consensus CDS
      CCDS42869.2
      UniProtKB/Swiss-Prot
      A0A6E1W127, A7E2Y1, Q5JVW7, Q6NT44, Q6NT57, Q6WG75, Q96I57, Q9NWE2, Q9P216
      Related
      ENSP00000262873.8, ENST00000262873.13
      Conserved Domains (4) summary
      COG1196
      Location:970 → 1806
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK12704
      Location:1756 → 1897
      PRK12704; phosphodiesterase; Provisional
      TIGR02169
      Location:851 → 1058
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      cd14927
      Location:98 → 773
      MYSc_Myh7b; class II myosin heavy chain 7b, motor domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      34955868..35002437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440336.1 → XP_047296292.1  myosin-7B isoform X1

    2. XM_047440337.1 → XP_047296293.1  myosin-7B isoform X2

    3. XM_047440338.1 → XP_047296294.1  myosin-7B isoform X4

    4. XM_006723840.4 → XP_006723903.1  myosin-7B isoform X3

      UniProtKB/Swiss-Prot
      A0A6E1W127, A7E2Y1, Q5JVW7, Q6NT44, Q6NT57, Q6WG75, Q96I57, Q9NWE2, Q9P216
      Conserved Domains (9) summary
      cd14927
      Location:140 → 815
      MYSc_Myh7b; class II myosin heavy chain 7b, motor domain
      pfam00063
      Location:129 → 815
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:895 → 1972
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:75 → 113
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam06273
      Location:1088 → 1145
      eIF-4B; Plant specific eukaryotic initiation factor 4B
      cd16269
      Location:1861 → 1872
      GBP_C; coiled coil [structural motif]
      cl19842
      Location:959 → 1050
      DUF2213; Uncharacterized protein conserved in bacteria (DUF2213)
      cl19872
      Location:1677 → 1927
      DUF885; Bacterial protein of unknown function (DUF885)
      cl20817
      Location:1779 → 1872
      GBP_C; Guanylate-binding protein, C-terminal domain

    5. XM_047440339.1 → XP_047296295.1  myosin-7B isoform X5

    6. XM_047440340.1 → XP_047296296.1  myosin-7B isoform X6

    7. XM_047440341.1 → XP_047296297.1  myosin-7B isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      36676523..36723074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323779.1 → XP_054179754.1  myosin-7B isoform X1

    2. XM_054323780.1 → XP_054179755.1  myosin-7B isoform X2

    3. XM_054323782.1 → XP_054179757.1  myosin-7B isoform X4

    4. XM_054323781.1 → XP_054179756.1  myosin-7B isoform X3

    5. XM_054323783.1 → XP_054179758.1  myosin-7B isoform X5

    6. XM_054323784.1 → XP_054179759.1  myosin-7B isoform X6

    7. XM_054323785.1 → XP_054179760.1  myosin-7B isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033424.1: Suppressed sequence

      Description
      NM_033424.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A7E2Y1.4 GenPept UniProtKB/Swiss-Prot:A7E2Y1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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