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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
    mouse all
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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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