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    MYH14 myosin heavy chain 14 [ Homo sapiens (human) ]

    Gene ID: 79784, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MYH14provided by HGNC
    Official Full Name
    myosin heavy chain 14provided by HGNC
    Primary source
    HGNC:HGNC:23212
    See related
    Ensembl:ENSG00000105357 MIM:608568; AllianceGenome:HGNC:23212
    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
    DFNA4; MHC16; MYH17; PNMHH; DFNA4A; myosin; FP17425; NMHC II-C; NMHC-II-C
    Summary
    This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Broad expression in colon (RPKM 39.5), duodenum (RPKM 33.8) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYH14 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50203622..50310540)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53291137..53398069)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50706879..50813797)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10950 Neighboring gene small NF90 (ILF3) associated RNA D Neighboring gene uncharacterized LOC124904746 Neighboring gene IZUMO family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50718498-50719073 Neighboring gene Sharpr-MPRA regulatory region 11309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14977 Neighboring gene Sharpr-MPRA regulatory region 8620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50795061-50795589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50795590-50796117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50816362-50816890 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50819536-50819716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50829251-50829772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10954 Neighboring gene Sharpr-MPRA regulatory region 11330/13384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10956 Neighboring gene uncharacterized LOC105372437 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50833762-50833941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50836875-50837827 Neighboring gene potassium voltage-gated channel subfamily C member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14981 Neighboring gene napsin B aspartic peptidase (pseudogene)

    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 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. Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Chen AH, et al. Hum Mol Genet, 1995 Jun. PMID 7655461
    2. Clue to a new deafness gene: a large Chinese nonsyndromic hearing loss family linked to DFNA4. Zong L, et al. J Genet Genomics, 2012 Dec 20. PMID 23273769, Free PMC Article
    3. Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants. Hiramatsu K, et al. Genes (Basel), 2021 Oct 15. PMID 34681017, Free PMC Article
    4. A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss. Wang M, et al. BMC Med Genet, 2020 Jul 25. PMID 32711451, Free PMC Article
    5. Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues. Rinaldi F, et al. Neurobiol Dis, 2012 Jan. PMID 21872659

    See all (153) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.
      Title: Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.
    2. Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
      Title: Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
    3. Distinct roles of nonmuscle myosin II isoforms for establishing tension and elasticity during cell morphodynamics.
      Title: Distinct roles of nonmuscle myosin II isoforms for establishing tension and elasticity during cell morphodynamics.
    4. Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner.
      Title: Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner.
    5. A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
      Title: A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
    6. We describe the third family carrying the R941L mutation in MYH14, and demonstrate that the R941L mutation impairs non-muscle myosin protein function. To better understand the molecular basis of the peripheral neuropathy phenotype associated with the R941L mutation, which has been hindered by the fact that NMIIC is largely uncharacterized, we have established a previously unrecognized biological role for NMIIC in mediatin
      Title: The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.
    7. confirm faster ADP release from R694N actomyosin mutant, but is not as dramatic as the difference of kinetics of ADP release in the alpha and beta isoforms.
      Title: Electrostatic interactions in the force-generating region of the human cardiac myosin modulate ADP dissociation from actomyosin.
    8. a truncation mutation in the cMLCK gene p.Pro639Valfs*15 can be associated with significant impairment of MLC2v phosphorylation and possibly with development of DCM, although a larger study of DCM patients is required to determine the prevalence of this mutation and further strengthen its association with disease development.
      Title: Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy.
    9. This is the first identification of mutations in MYH14 as a cause of Anorectal malformations.
      Title: Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population.
    10. By reporting two novel variants of MYH14, we suggest that the present study extends the phenotypic spectrum of autosomal dominant MYH14 variants to include nonsyndromic, severe-to-profound hearing loss with prelingual onset.
      Title: Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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

    Associated conditions

    Description Tests
    Autosomal dominant nonsyndromic hearing loss 4A
    MedGen: C1833503 OMIM: 600652 GeneReviews: Genetic Hearing Loss Overview
    		not available
    Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
    MedGen: C3280556 OMIM: 614369 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 protease cleaves human myosin heavy chain in vitro PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13881, FLJ43092, KIAA2034, DKFZp667A1311

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament-based movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in actomyosin structure organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuronal action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vocalization behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actomyosin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of myosin II complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in myosin II filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in myosin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myosin-14
    Names
    MYH14 variant protein
    myosin heavy chain, non-muscle IIc
    myosin, heavy chain 14, non-muscle
    myosin, heavy polypeptide 14
    non-muscle myosin heavy chain IIc
    nonmuscle myosin heavy chain II-C
    NP_001070654.1
    NP_001139281.1
    NP_079005.3

    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_011645.1 RefSeqGene

      Range
      4995..111913
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077186.2 → NP_001070654.1  myosin-14 isoform 1

      See identical proteins and their annotated locations for NP_001070654.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. The resulting isoform (1) lacks an internal segment in the motor domain, compared to isoform 3.
      Source sequence(s)
      AB111886, AC008655, AC010515, AC020906, AK125082, AY165122, BC007877, BC018933
      Consensus CDS
      CCDS46151.1
      UniProtKB/Swiss-Prot
      Q7Z406
      UniProtKB/TrEMBL
      B3KWH4
      Related
      ENSP00000407879.1, ENST00000425460.6
      Conserved Domains (5) summary
      cd14930
      Location:119 → 796
      MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
      pfam00063
      Location:108 → 796
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:873 → 1953
      Myosin_tail_1; Myosin tail
      cd16269
      Location:1689 → 1706
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:1621 → 1721
      GBP_C; Guanylate-binding protein, C-terminal domain

    2. NM_001145809.2 → NP_001139281.1  myosin-14 isoform 3

      See identical proteins and their annotated locations for NP_001139281.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AB290169, AC020906, AK125082, BC007877, BC018933, BC129803, DB110776
      Consensus CDS
      CCDS54295.1
      UniProtKB/Swiss-Prot
      Q7Z406
      UniProtKB/TrEMBL
      A1L2Z2, B3KWH4
      Related
      ENSP00000493594.1, ENST00000642316.2
      Conserved Domains (2) summary
      cd14930
      Location:119 → 829
      MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
      pfam01576
      Location:906 → 1986
      Myosin_tail_1; Myosin tail

    3. NM_024729.4 → NP_079005.3  myosin-14 isoform 2

      See identical proteins and their annotated locations for NP_079005.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 3. The resulting isoform (2) lacks two separate segments in the motor domain, compared to isoform 3.
      Source sequence(s)
      AB111886, AC008655, AC010515, AC020906, AY165122, BC007877, BC018933
      Consensus CDS
      CCDS59411.1
      UniProtKB/Swiss-Prot
      B0I1S2, C3TTN4, Q5CZ75, Q6XYE4, Q76B62, Q7Z406, Q8WV23, Q96I22, Q9BT27, Q9BW35, Q9H882
      Related
      ENSP00000366169.3, ENST00000376970.6
      Conserved Domains (2) summary
      cd14930
      Location:119 → 788
      MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain
      cl25732
      Location:865 → 1945
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      50203622..50310540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53291137..53398069
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z406.2 GenPept UniProtKB/Swiss-Prot:Q7Z406

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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