Format

Send to:

Choose Destination

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

Gene ID: 4620, updated on 2-Oct-2018

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; Vega:OTTHUMG00000130363
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:
41
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (10521148..10549700, 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 SCO1, cytochrome c oxidase assembly protein Neighboring gene ADP-ribose/CDP-alcohol diphosphatase, manganese dependent Neighboring gene transmembrane protein 220

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
    Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
    Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
    Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • amb2 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
    amb2 Integrin signaling, organism-specific biosystem
    amb2 Integrin signaling

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
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
    5001..33553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001100112.1NP_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)
    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_017534.5NP_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, OTTHUMP00000160894, ENST00000245503.9, OTTHUMT00000252726
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    10521148..10549700 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center