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

    Gene ID: 4622, updated on 3-Apr-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, Apr 2022]
    Expression
    Low expression observed in reference dataset 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 (10443263..10469559, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10350703..10377048, complement)
    105.20220307 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. Myosin heavy chain-2b transcripts and isoform are expressed in human laryngeal muscles. Smerdu V, et al. Cells Tissues Organs, 2013. PMID 23796659
    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. 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
    4. 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
    5. 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

    See all (36) 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)

    Genotypes

    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_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
      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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