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

    Gene ID: 4620, updated on 10-Dec-2024

    Summary

    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; CMYO6; 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

    See MYH2 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (10521148..10549658, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10428658..10457214, complement)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables actin filament binding  
    enables calmodulin binding  
    enables microfilament motor activity  
    enables microfilament motor activity PubMed 
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in muscle contraction  
    involved_in muscle contraction PubMed 
    involved_in muscle contraction PubMed 
    involved_in muscle filament sliding PubMed 
    Component Evidence Code Pubs
    located_in cell-cell junction PubMed 
    is_active_in cytoplasm  
    located_in cytosol  
    part_of muscle myosin complex PubMed 
    part_of muscle myosin complex PubMed 
    located_in myofibril PubMed 
    part_of myosin II complex  
    is_active_in myosin filament  
    part_of protein-containing complex  
    located_in sarcomere PubMed 

    General protein information

    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_2024_08

    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)
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