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

Gene ID: 79784, updated on 7-Apr-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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Location:
19q13.33
Exon count:
43
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50203622..50310540)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53291137..53398069)
105.20220307 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
  • 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. 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
  2. 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
  3. The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy. Almutawa W, et al. EBioMedicine, 2019 Jul. PMID 31231018, Free PMC Article
  4. Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy. Hodatsu A, et al. ESC Heart Fail, 2019 Apr. PMID 30690923, Free PMC Article
  5. Electrostatic interactions in the force-generating region of the human cardiac myosin modulate ADP dissociation from actomyosin. Gargey A, et al. Biochem Biophys Res Commun, 2019 Feb 19. PMID 30654937, Free PMC Article

See all (139) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
    Title: Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. phosphorylation of human cardiac myosin regulatory light chain prevents development of hypertrophic cardiomyopathy in mice
    Title: Constitutive phosphorylation of cardiac myosin regulatory light chain prevents development of hypertrophic cardiomyopathy in mice.
Submit: New GeneRIF Correction See all GeneRIFs (23)

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

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_2023_10

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

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