Format

Send to:

Choose Destination

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

Gene ID: 4620, updated on 4-Oct-2020

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
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; 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

Genomic context

See MYH2 in Genome Data Viewer
Location:
17p13.1
Exon count:
40
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (10521148..10549658, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10424465..10453017, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene myosin heavy chain 4 Neighboring gene myosin heavy chain 1 Neighboring gene myosin heavy chain 3 Neighboring gene Sharpr-MPRA regulatory region 5903 Neighboring gene synthesis of cytochrome C oxidase 1 Neighboring gene ADP-ribose/CDP-alcohol diphosphatase, manganese dependent

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
microfilament motor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
muscle filament sliding NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell-cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
muscle myosin complex NAS
Non-traceable Author Statement
more info
PubMed 
muscle myosin complex TAS
Traceable Author Statement
more info
PubMed 
myofibril IDA
Inferred from Direct Assay
more info
PubMed 
myosin filament IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
 
sarcomere NAS
Non-traceable Author Statement
more info
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)

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_001100112.2NP_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
    Q9UKX2
    Related
    ENSP00000380367.2, ENST00000397183.6
    Conserved Domains (6) summary
    cd14912
    Location:100772
    MYSc_Myh2_mammals; class II myosin heavy chain 2, motor domain
    pfam00063
    Location:88772
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8521929
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3673
    Myosin_N; Myosin N-terminal SH3-like domain
    cl19219
    Location:16721769
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:9671100
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. NM_017534.6NP_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
    Q9UKX2
    Related
    ENSP00000245503.5, ENST00000245503.10
    Conserved Domains (6) summary
    cd14912
    Location:100772
    MYSc_Myh2_mammals; class II myosin heavy chain 2, motor domain
    pfam00063
    Location:88772
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8521929
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3673
    Myosin_N; Myosin N-terminal SH3-like domain
    cl19219
    Location:16721769
    DUF342; Protein of unknown function (DUF342)
    cl23720
    Location:9671100
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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