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MYH4 myosin heavy chain 4 [ Homo sapiens (human) ]

Gene ID: 4622, updated on 27-Nov-2024

Summary

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Official Symbol
MYH4provided by HGNC
Official Full Name
myosin heavy chain 4provided by HGNC
Primary source
HGNC:HGNC:7574
See related
Ensembl:ENSG00000264424 MIM:160742; AllianceGenome:HGNC:7574
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MYH2B; MyHC-2B; MyHC-IIb
Summary
Enables double-stranded RNA binding activity. Involved in muscle contraction. Located in myofibril. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See MYH4 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 (10443263..10469559, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10350703..10377048, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10346607..10372876, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10212735-10213249 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:10232009-10232227 Neighboring gene myosin heavy chain 13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10295275-10296474 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10303826-10305025 Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene myosin heavy chain 8 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 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 myosin heavy chain 2

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. New method for the accurate characterization of single human skeletal muscle fibres demonstrates a relation between mATPase and MyHC expression in pure and hybrid fibre types. Sant'ana Pereira JA, et al. J Muscle Res Cell Motil, 1995 Feb. PMID 7751402
  2. Abundant expression of myosin heavy-chain IIB RNA in a subset of human masseter muscle fibres. Horton MJ, et al. Arch Oral Biol, 2001 Nov. PMID 11543711, Free PMC Article
  3. Myosin heavy chain-2b transcripts and isoform are expressed in human laryngeal muscles. Smerdu V, et al. Cells Tissues Organs, 2013. PMID 23796659
  4. Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome. Soussi-Yanicostas N, et al. Hum Mol Genet, 1993 May. PMID 8518795
  5. Temporal spatial expression and function of non-muscle myosin II isoforms IIA and IIB in scar remodeling. Bond JE, et al. Lab Invest, 2011 Apr. PMID 21102503, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. MyHC-2b was always co-expressed with the major MyHC isoforms, not only with the fast ones (MyHC-2a and -2x) but with the slow isoform (MyHC-1) as well.
    Title: Myosin heavy chain-2b transcripts and isoform are expressed in human laryngeal muscles.
  3. NMMII and actin isoform expression changes coordinately with the remodeling phase of repair, and NMMII is increased as matrix stiffness increases. As NMMII expression increases, so does the fibroblast contractility.
    Title: Temporal spatial expression and function of non-muscle myosin II isoforms IIA and IIB in scar remodeling.
  4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 ATP hydrolysis activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables double-stranded RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microfilament motor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in ATP metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in actin filament-based movement NAS
Non-traceable Author Statement
more info
 PubMed 
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 filament sliding NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of muscle myosin complex NAS
Non-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
  
located_in sarcomere NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
myosin-4
Names
myosin heavy chain 2b
myosin heavy chain IIb
myosin heavy chain, skeletal muscle, fetal
myosin, heavy chain 4, skeletal muscle
myosin, heavy polypeptide 4, skeletal muscle

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_052846.1 RefSeqGene

    Range
    5001..31270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017533.2 → NP_060003.2  myosin-4

    See identical proteins and their annotated locations for NP_060003.2

    Status: VALIDATED

    Source sequence(s)
    AC005323, AF111783
    Consensus CDS
    CCDS11154.1
    UniProtKB/Swiss-Prot
    Q9Y623
    UniProtKB/TrEMBL
    V9HWC1
    Related
    ENSP00000255381.2, ENST00000255381.2
    Conserved Domains (8) summary
    cd14915
    Location:100 → 770
    MYSc_Myh4; class II myosin heavy chain 4, motor domain
    pfam00063
    Location:88 → 770
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:850 → 1927
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:36 → 73
    Myosin_N; Myosin N-terminal SH3-like domain
    cl00459
    Location:1299 → 1411
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
    cl19219
    Location:1670 → 1767
    DUF342; Protein of unknown function (DUF342)
    cl19764
    Location:1376 → 1511
    COG6; Conserved oligomeric complex COG6
    cl23720
    Location:965 → 1098
    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
    10443263..10469559 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024676.2 → XP_016880165.1  myosin-4 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y623
    UniProtKB/TrEMBL
    V9HWC1
    Conserved Domains (8) summary
    cd14915
    Location:100 → 770
    MYSc_Myh4; class II myosin heavy chain 4, motor domain
    pfam00063
    Location:88 → 770
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:850 → 1927
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:36 → 73
    Myosin_N; Myosin N-terminal SH3-like domain
    cl00459
    Location:1299 → 1411
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
    cl19219
    Location:1670 → 1767
    DUF342; Protein of unknown function (DUF342)
    cl19764
    Location:1376 → 1511
    COG6; Conserved oligomeric complex COG6
    cl23720
    Location:965 → 1098
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    10350703..10377048 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316236.1 → XP_054172211.1  myosin-4 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y623.2 GenPept UniProtKB/Swiss-Prot:Q9Y623

Gene LinkOut

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