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

Gene ID: 57644, updated on 3-Apr-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
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Genomic context

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Location:
20q11.22
Exon count:
47
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34955868..35002437)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36676523..36723074)
105.20220307 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
  • 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. 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
  4. 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
  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 (37) 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_2023_10

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

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