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MYH2 myosin heavy chain 2 [ Homo sapiens (human) ]

Gene ID: 4620, updated on 5-Mar-2024

Summary

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Official Symbol
MYH2provided by HGNC
Official Full Name
myosin heavy chain 2provided by HGNC
Primary source
HGNC:HGNC:7572
See related
Ensembl:ENSG00000125414 MIM:160740; AllianceGenome:HGNC:7572
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
IBM3; CMYP6; MYH2A; MYPOP; MYHSA2; MYHas8; MyHC-2A; MyHC-IIa
Summary
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
Expression
Biased expression in prostate (RPKM 33.0) and esophagus (RPKM 24.7) See more
Orthologs
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Genomic context

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Location:
17p13.1
Exon count:
40
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (10521148..10549658, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10428658..10457214, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10424465..10452975, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10350156-10351355 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10353850-10355049 Neighboring gene myosin heavy chain 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10395090-10396289 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10399610-10400809 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10407979-10409178 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10427829-10429028 Neighboring gene myosin heavy chain 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10446256-10447455 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10475093-10475685 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10520795-10521295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10521298-10521798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10521799-10522299 Neighboring gene uncharacterized LOC124903927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11732 Neighboring gene myosin heavy chain 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10599827-10600650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10600651-10601475 Neighboring gene synthesis of cytochrome C oxidase 1

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. MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO). Baskar D, et al. J Neuromuscul Dis, 2023. PMID 37154181, Free PMC Article
  2. MYH2-associated myopathy caused by a novel splice-site variant. Cassini TA, et al. Neuromuscul Disord, 2023 Mar. PMID 36774715, Free PMC Article
  3. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations. Sonne A, et al. Am J Physiol Cell Physiol, 2023 Mar 1. PMID 36745529
  4. Precise Tuning of Cortical Contractility Regulates Cell Shape during Cytokinesis. Taneja N, et al. Cell Rep, 2020 Apr 7. PMID 32268086, Free PMC Article
  5. Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy. Tsabari R, et al. Neuromuscul Disord, 2017 Oct. PMID 28729039

See all (74) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Myosin heavy chain 2 (MYH2) expression in hypertrophic chondrocytes of soft callus provokes endochondral bone formation in fracture.
    Title: Myosin heavy chain 2 (MYH2) expression in hypertrophic chondrocytes of soft callus provokes endochondral bone formation in fracture.
  2. Nonmuscle myosin 2 filaments are processive in cells.
    Title: Nonmuscle myosin 2 filaments are processive in cells.
  3. MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
    Title: MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
  4. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.
    Title: Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.
  5. MYH2-associated myopathy caused by a novel splice-site variant.
    Title: MYH2-associated myopathy caused by a novel splice-site variant.
  6. Precise Tuning of Cortical Contractility Regulates Cell Shape during Cytokinesis.
    Title: Precise Tuning of Cortical Contractility Regulates Cell Shape during Cytokinesis.
  7. Exome analysis revealed homozygosity for a novel truncating mutation p.G800fs27* in the Myosin Heavy Chain 2 (MYH2) gene in both brothers, while parents and an unaffected sibling were heterozygous
    Title: Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.
  8. differential regulation of PKA and cell stiffness in unconfined versus confined cells is abrogated by dual, but not individual, inhibition of Piezo1 and myosin II.
    Title: Confinement Sensing and Signal Optimization via Piezo1/PKA and Myosin II Pathways.
  9. C-terminal Myosin IIA Heavy Chain phosphorylation sites are critical for recruitment of Myosin IIA to lamellar protrusions and for marginal paxillin phosphorylation during active cell spreading.
    Title: Myosin IIA Heavy Chain Phosphorylation Mediates Adhesion Maturation and Protrusion in Three Dimensions.
  10. Transcriptional levels of MHC-I, MHC-IIa, and MHC-IIb in denervation groups were significantly down-regulated compared with controls
    Title: Transition of myosin heavy chain isoforms in human laryngeal abductors following denervation.
Submit: New GeneRIF Correction See all GeneRIFs (29)

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

Associated conditions

Description Tests
Myopathy, proximal, and ophthalmoplegia
MedGen: C1854106 OMIM: 605637 GeneReviews: Not available
Compare labs

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

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 calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microfilament motor activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in muscle contraction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in muscle contraction TAS
Traceable Author Statement
more info
 PubMed 
involved_in muscle filament sliding NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cell-cell junction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of muscle myosin complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of muscle myosin complex TAS
Traceable Author Statement
more info
 PubMed 
located_in myofibril IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
  
located_in sarcomere NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
myosin-2
Names
fast 2a myosin heavy chain
inclusion body myopathy 3, autosomal dominant
myosin heavy chain 2a
myosin heavy chain IIa
myosin heavy chain, skeletal muscle, adult 2
myosin, heavy chain 2, skeletal muscle, adult
myosin, heavy polypeptide 2, skeletal muscle, adult
type IIA myosin heavy chain

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_013014.1 RefSeqGene

    Range
    5043..33553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001100112.2 → NP_001093582.1  myosin-2

    See identical proteins and their annotated locations for NP_001093582.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.
    Source sequence(s)
    AC005323, BC093082, BC126409, DA765261
    Consensus CDS
    CCDS11156.1
    UniProtKB/Swiss-Prot
    A0AVL4, Q14322, Q16229, Q567P6, Q86T56, Q9UKX2
    UniProtKB/TrEMBL
    V9HWC1
    Related
    ENSP00000380367.2, ENST00000397183.6
    Conserved Domains (6) summary
    cd14912
    Location:100 → 772
    MYSc_Myh2_mammals; class II myosin heavy chain 2, motor domain
    pfam00063
    Location:88 → 772
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:852 → 1929
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:36 → 73
    Myosin_N; Myosin N-terminal SH3-like domain
    cl19219
    Location:1672 → 1769
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:967 → 1100
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  2. NM_017534.6 → NP_060004.3  myosin-2

    See identical proteins and their annotated locations for NP_060004.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Both variants encode the same protein.
    Source sequence(s)
    BC093082, BC126409, DC379233
    Consensus CDS
    CCDS11156.1
    UniProtKB/Swiss-Prot
    A0AVL4, Q14322, Q16229, Q567P6, Q86T56, Q9UKX2
    UniProtKB/TrEMBL
    V9HWC1
    Related
    ENSP00000245503.5, ENST00000245503.10
    Conserved Domains (6) summary
    cd14912
    Location:100 → 772
    MYSc_Myh2_mammals; class II myosin heavy chain 2, motor domain
    pfam00063
    Location:88 → 772
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:852 → 1929
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:36 → 73
    Myosin_N; Myosin N-terminal SH3-like domain
    cl19219
    Location:1672 → 1769
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:967 → 1100
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    10521148..10549658 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    10428658..10457214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKX2.1 GenPept UniProtKB/Swiss-Prot:Q9UKX2

Gene LinkOut

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

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