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Aliases for MYH14 Gene

Aliases for MYH14 Gene

  • Myosin, Heavy Chain 14, Non-Muscle 2 3
  • Myosin Heavy Chain, Non-Muscle IIc 3 4
  • Non-Muscle Myosin Heavy Chain IIc 3 4
  • Myosin, Heavy Polypeptide 14 2 3
  • NMHC II-C 3 4
  • KIAA2034 4 6
  • DFNA4A 3 6
  • PNMHH 3 6
  • Nonmuscle Myosin Heavy Chain II-C 3
  • Myosin, Heavy Chain 14 2
  • MYH14 Variant Protein 3
  • Myosin Heavy Chain 14 4
  • NMHC-II-C 3
  • Myosin-14 3
  • FP17425 3
  • Myosin 3
  • MHC16 3
  • MYH17 3
  • DFNA4 3

External Ids for MYH14 Gene

Previous Symbols for MYH14 Gene

  • DFNA4

Summaries for MYH14 Gene

Entrez Gene Summary for MYH14 Gene

  • 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]

GeneCards Summary for MYH14 Gene

MYH14 (Myosin, Heavy Chain 14, Non-Muscle) is a Protein Coding gene. Diseases associated with MYH14 include peripheral neuropathy, myopathy, hoarseness, and hearing loss and deafness, autosomal dominant 4a. Among its related pathways are RhoGDI Pathway and Regulation of actin cytoskeleton. GO annotations related to this gene include calmodulin binding and microfilament motor activity. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH14 Gene

  • Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.

Tocris Summary for MYH14 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name), almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II. Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by intracellular Ca2+ concentrations.

Gene Wiki entry for MYH14 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH14 Gene

Genomics for MYH14 Gene

Genomic Location for MYH14 Gene

Start:
50,188,186 bp from pter
End:
50,310,545 bp from pter
Size:
122,360 bases
Orientation:
Plus strand

Genomic View for MYH14 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYH14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH14 Gene

Regulatory Elements for MYH14 Gene

Proteins for MYH14 Gene

  • Protein details for MYH14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z406-MYH14_HUMAN
    Recommended name:
    Myosin-14
    Protein Accession:
    Q7Z406
    Secondary Accessions:
    • B0I1S2
    • C3TTN4
    • Q5CZ75
    • Q6XYE4
    • Q76B62
    • Q8WV23
    • Q96I22
    • Q9BT27
    • Q9BW35
    • Q9H882

    Protein attributes for MYH14 Gene

    Size:
    1995 amino acids
    Molecular mass:
    227871 Da
    Quaternary structure:
    • Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).
    SequenceCaution:
    • Sequence=AAO39147.1; Type=Frameshift; Positions=1017, 1057; Evidence={ECO:0000305}; Sequence=AAP34449.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAP34449.1; Type=Frameshift; Positions=1016, 1057, 1490, 1755; Evidence={ECO:0000305}; Sequence=BAB14735.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BG468611; Type=Erroneous termination; Positions=403; Note=Translated as Leu.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYH14 Gene

    Alternative splice isoforms for MYH14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYH14 Gene

Proteomics data for MYH14 Gene at MOPED

Post-translational modifications for MYH14 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys252, Lys429, Lys755, Lys859, Lys880, and Lys1469

Other Protein References for MYH14 Gene

No data available for DME Specific Peptides for MYH14 Gene

Domains for MYH14 Gene

Gene Families for MYH14 Gene

HGNC:
  • MYHII :Myosins / Myosin superfamily : Class II

UniProtKB/Swiss-Prot:

MYH14_HUMAN
Domain:
  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.:
    • Q7Z406
  • Contains 1 IQ domain.:
    • Q7Z406
  • Contains 1 myosin motor domain.:
    • Q7Z406
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.:
    • Q7Z406
genes like me logo Genes that share domains with MYH14: view

Function for MYH14 Gene

Molecular function for MYH14 Gene

UniProtKB/Swiss-Prot Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.

Gene Ontology (GO) - Molecular Function for MYH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IEA --
GO:0003774 motor activity --
GO:0005515 protein binding --
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYH14: view
genes like me logo Genes that share phenotypes with MYH14: view

Animal Models for MYH14 Gene

MGI Knock Outs for MYH14:

miRNA for MYH14 Gene

miRTarBase miRNAs that target MYH14

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MYH14 Gene

Localization for MYH14 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYH14 Gene COMPARTMENTS Subcellular localization image for MYH14 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0016459 myosin complex --
genes like me logo Genes that share ontologies with MYH14: view

Pathways for MYH14 Gene

genes like me logo Genes that share pathways with MYH14: view

Gene Ontology (GO) - Biological Process for MYH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 21480433
GO:0006200 obsolete ATP catabolic process --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007411 axon guidance TAS --
GO:0007519 skeletal muscle tissue development IMP 21480433
genes like me logo Genes that share ontologies with MYH14: view

Compounds for MYH14 Gene

(4) Tocris Compounds for MYH14 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity [674289-55-5]
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) [1177356-70-5]
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) [856925-71-8]
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity [1576-37-0]
genes like me logo Genes that share compounds with MYH14: view

Transcripts for MYH14 Gene

Unigene Clusters for MYH14 Gene

Myosin, heavy chain 14, non-muscle:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYH14 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^
SP1:
SP2: -
SP3:
SP4:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32a · 32b · 32c ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41
SP1: -
SP2:
SP3: - - - - -
SP4:

Relevant External Links for MYH14 Gene

GeneLoc Exon Structure for
MYH14
ECgene alternative splicing isoforms for
MYH14

Expression for MYH14 Gene

mRNA expression in normal human tissues for MYH14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH14 Gene

This gene is overexpressed in Muscle - Skeletal (8.4) and Colon - Transverse (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYH14 Gene

SOURCE GeneReport for Unigene cluster for MYH14 Gene Hs.467142

mRNA Expression by UniProt/SwissProt for MYH14 Gene

Q7Z406-MYH14_HUMAN
Tissue specificity: High levels of expression are found in brain (highest in corpus callosum), heart, kidney, liver, lung, small intestine, colon and skeletal muscle. Expression is low in organs composed mainly of smooth muscle, such as aorta, uterus and urinary bladder. No detectable expression is found in thymus, spleen, placenta and lymphocytes.
genes like me logo Genes that share expressions with MYH14: view

Orthologs for MYH14 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYH14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYH14 36
  • 99.44 (n)
  • 99.85 (a)
MYH14 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYH14 36
  • 90.32 (n)
  • 95.23 (a)
MYH14 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH14 36
  • 89.37 (n)
  • 93.41 (a)
MYH14 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myh14 36
  • 85.4 (n)
  • 92.57 (a)
Myh14 16
Myh14 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 37 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Myh14 36
  • 85.88 (n)
  • 93.43 (a)
lizard
(Anolis carolinensis)
Reptilia MYH14 37
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii myh14 37
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta zip 37
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nmy-1 37
  • 48 (a)
ManyToMany
nmy-2 37
  • 43 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 37
  • 29 (a)
OneToMany
Species with no ortholog for MYH14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MYH14 Gene

ENSEMBL:
Gene Tree for MYH14 (if available)
TreeFam:
Gene Tree for MYH14 (if available)

Paralogs for MYH14 Gene

Paralogs for MYH14 Gene

genes like me logo Genes that share paralogs with MYH14: view

Variants for MYH14 Gene

Sequence variations from dbSNP and Humsavar for MYH14 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs378811 Benign 50,257,459(-) ATGCA(C/G)CGGAC reference, synonymous-codon
rs386168 -- 50,257,932(-) aaact(C/G)ttctc intron-variant
rs393368 -- 50,257,677(-) atgct(C/T)aatac intron-variant
rs399532 -- 50,249,224(-) acCAG(A/G)GAGAA intron-variant
rs430893 -- 50,256,431(-) ttgtg(C/T)cactg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYH14 Gene

Variant ID Type Subtype PubMed ID
esv2751796 CNV Gain 17911159
nsv428369 CNV Loss 18775914
dgv3975n71 CNV Gain 21882294
nsv523948 CNV Gain 19592680
nsv912277 CNV Loss 21882294
esv1752526 CNV Deletion 17803354
nsv912278 CNV Loss 21882294
nsv2528 CNV Loss 18451855
esv2718727 CNV Deletion 23290073
esv2718728 CNV Deletion 23290073
esv2718730 CNV Deletion 23290073
esv2718731 CNV Deletion 23290073
esv2664956 CNV Deletion 23128226
esv2667501 CNV Deletion 23128226

Relevant External Links for MYH14 Gene

HapMap Linkage Disequilibrium report
MYH14
Human Gene Mutation Database (HGMD)
MYH14

Disorders for MYH14 Gene

(2) OMIM Diseases for MYH14 Gene (608568)

UniProtKB/Swiss-Prot

MYH14_HUMAN
  • Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:15015131, ECO:0000269 PubMed:16222661}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]: A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles. {ECO:0000269 PubMed:21480433}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MYH14 Gene

Relevant External Links for MYH14

Genetic Association Database (GAD)
MYH14
Human Genome Epidemiology (HuGE) Navigator
MYH14
genes like me logo Genes that share disorders with MYH14: view

Publications for MYH14 Gene

  1. Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. (PMID: 18471249) Martinelli M. … Carinci F. (Eur. J. Oral Sci. 2008) 3 23 49
  2. Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family. (PMID: 14594953) Golomb E. … Adelstein R.S. (J. Biol. Chem. 2004) 3 4 23
  3. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). (PMID: 15015131) Donaudy F. … Savoia A. (Am. J. Hum. Genet. 2004) 2 3 4
  4. A novel myosin heavy chain gene in human chromosome 19q13.3. (PMID: 12909352) Leal A. … Rautenstrauss B. (Gene 2003) 2 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for MYH14 Gene

Sources for MYH14 Gene

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