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Aliases for MYH14 Gene

Aliases for MYH14 Gene

  • Myosin Heavy Chain 14 2 3 4 5
  • 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
  • Nonmuscle Myosin Heavy Chain II-C 3
  • MYH14 Variant Protein 3
  • NMHC-II-C 3
  • Myosin-14 3
  • KIAA2034 4
  • FP17425 3
  • DFNA4A 3
  • Myosin 3
  • MHC16 3
  • MYH17 3
  • PNMHH 3
  • DFNA4 3

External Ids for MYH14 Gene

Previous HGNC Symbols for MYH14 Gene

  • DFNA4

Previous GeneCards Identifiers for MYH14 Gene

  • GC19P055451
  • GC19P055405
  • GC19P055398
  • GC19P050706
  • GC19P047045

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) 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 PAK Pathway and EPH-Ephrin signaling. Gene Ontology (GO) annotations related to this gene include calmodulin binding and motor activity. An important paralog of this gene is MYH10.

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 (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYH14 Gene

Additional gene information for MYH14 Gene

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

Genomics for MYH14 Gene

GeneHancer (GH) Regulatory Elements for MYH14 Gene

Promoters and enhancers for MYH14 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I050202 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 555.3 +17.1 17073 5.8 PKNOX1 CLOCK ATF1 SIN3A GLIS2 FOS SP3 RXRA SP5 NFYC MYH14 NUP62 ENSG00000268047 TSKS ZNF473 VRK3 POLD1 NOSIP DKKL1 SLC6A16
GH19I050187 Enhancer 0.8 ENCODE dbSUPER 555.7 +1.7 1683 4.7 SMARCA5 SRF NR2F1 ELF1 IKZF1 RUNX3 IKZF2 SPI1 MYH14 PTOV1-AS2 ENSG00000276002
GH19I050213 Enhancer 0.9 ENCODE dbSUPER 15.5 +26.6 26646 2.8 KLF1 NEUROD1 KLF17 BMI1 ZIC2 ZBTB7B TCF12 CTBP1 GATA3 POLR2A MYH14 NUP62 ENSG00000276002
GH19I050147 Enhancer 1.2 Ensembl ENCODE 5.9 -40.1 -40056 1.5 PKNOX1 ATF1 ARNT SIN3A GLI4 ZNF2 ZNF48 YY1 ETS1 ZNF766 LOC105372436 NUP62 POLD1 PTOV1-AS2 PIH1D1 SNORD35A SNORD35B PRR12 ALDH16A1 IRF3
GH19I050311 Enhancer 1.4 Ensembl ENCODE dbSUPER 5 +126.1 126086 5.2 HDGF PKNOX1 CLOCK SIN3A ZNF2 ZBTB7B E2F8 ZNF263 SP3 SP5 PIR40912 CPT1C LRRC4B POLD1 NUP62 SHANK1 PTOV1 ENSG00000268231 MED25 KCNC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYH14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYH14 gene promoter:

Genomic Locations for MYH14 Gene

Genomic Locations for MYH14 Gene
chr19:50,188,186-50,310,545
(GRCh38/hg38)
Size:
122,360 bases
Orientation:
Plus strand
chr19:50,691,443-50,813,802
(GRCh37/hg19)

Genomic View for MYH14 Gene

Genes around MYH14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for MYH14 Gene

  • Ubiquitination at isoforms=2, 4, 5, 6880
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MYH14 Gene

Domains & Families for MYH14 Gene

Gene Families for MYH14 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MYH14 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z406

UniProtKB/Swiss-Prot:

MYH14_HUMAN :
  • 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.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
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.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
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.

Phenotypes From GWAS Catalog for MYH14 Gene

Gene Ontology (GO) - Molecular Function for MYH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IEA --
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with MYH14: view
genes like me logo Genes that share phenotypes with MYH14: view

Human Phenotype Ontology for MYH14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYH14 Gene

MGI Knock Outs for MYH14:

Animal Model Products

CRISPR Products

miRNA for MYH14 Gene

miRTarBase miRNAs that target MYH14

Inhibitory RNA Products

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

Localization for MYH14 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYH14 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005903 brush border IEA --
GO:0016020 membrane IDA,HDA 19946888
genes like me logo Genes that share ontologies with MYH14: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYH14 Gene

Pathways & Interactions 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:0007519 skeletal muscle tissue development IMP 21480433
GO:0007605 sensory perception of sound IMP 21480433
GO:0008360 regulation of cell shape IEA --
GO:0019228 neuronal action potential IMP 21480433
genes like me logo Genes that share ontologies with MYH14: view

No data available for SIGNOR curated interactions for MYH14 Gene

Drugs & Compounds for MYH14 Gene

(10) Drugs for MYH14 Gene - From: DrugBank, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(3aS)-3a-hydroxy-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one Experimental Pharma Target 0
(3aS)-3a-hydroxy-5-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one Experimental Pharma Target 0
(3aS)-3a-hydroxy-7-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one Experimental Pharma Target 0
(S)-blebbistatin Experimental Pharma Target 0
Mant-Adp Experimental Pharma Target 0

(2) Additional Compounds for MYH14 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(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

(3) ApexBio Compounds for MYH14 Gene

Compound Action Cas Number
(±)-Blebbistatin non-muscle myosin II ATPases inhibitor, cell-permeable 674289-55-5
(R)-(+)-Blebbistatin non-muscle myosin II ATPases inhibitor, cell-permeable 1177356-70-5
BTS 1576-37-0
genes like me logo Genes that share compounds with MYH14: view

Drug Products

Transcripts for MYH14 Gene

Unigene Clusters for MYH14 Gene

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x8.4) and Colon - Transverse (x4.2).

Protein differential expression in normal tissues from HIPED for MYH14 Gene

This gene is overexpressed in Cervix (18.1), Nasal epithelium (15.1), Bone marrow mesenchymal stem cell (7.8), and Fetal gut (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYH14 Gene



Protein tissue co-expression partners for MYH14 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYH14 Gene:

MYH14

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.

Evidence on tissue expression from TISSUES for MYH14 Gene

  • Lung(5)
  • Intestine(4.6)
  • Liver(4.6)
  • Muscle(4.5)
  • Thyroid gland(4.2)
  • Nervous system(4.2)
  • Lymph node(4)
  • Heart(3.3)
  • Gall bladder(3.2)
  • Pancreas(2.9)
  • Kidney(2.2)
  • Adrenal gland(2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH14 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • larynx
  • middle ear
  • neck
  • outer ear
  • vocal cord
Thorax:
  • heart
  • heart valve
Abdomen:
  • kidney
Limb:
  • foot
  • forearm
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MYH14: view

Primer Products

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 34 33
  • 99.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYH14 33 34
  • 90.32 (n)
dog
(Canis familiaris)
Mammalia MYH14 33 34
  • 89.37 (n)
rat
(Rattus norvegicus)
Mammalia Myh14 33
  • 85.88 (n)
mouse
(Mus musculus)
Mammalia Myh14 33 16 34
  • 85.4 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 37 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia MYH14 34
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii myh14 34
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta zip 34
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nmy-1 34
  • 48 (a)
ManyToMany
nmy-2 34
  • 43 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 34
  • 29 (a)
OneToMany
Species where no ortholog for MYH14 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1021906800 uncertain-significance, Nonsyndromic Hearing Loss, Dominant 50,310,457(+) G/A 3_prime_UTR_variant
rs10419343 benign, likely-benign, not specified, Nonsyndromic Hearing Loss, Dominant 50,293,684(+) G/A coding_sequence_variant, synonymous_variant
rs1057518869 uncertain-significance, EMG abnormality, EMG: axonal abnormality, Impaired vibration sensation in the lower limbs, Motor polyneuropathy, Peripheral axonal neuropathy, Peripheral neuropathy, Progressive sensorineural hearing impairment, Sensorineural hearing impairment 50,252,759(+) G/A intron_variant
rs113152264 likely-benign, benign, Nonsyndromic Hearing Loss, Dominant, not specified 50,271,454(+) C/T coding_sequence_variant, synonymous_variant
rs113993956 pathogenic, Peripheral neuropathy, myopathy, hoarseness, and hearing loss, Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369] 50,268,255(+) G/A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv1797n106 CNV deletion 24896259
esv1752526 CNV deletion 17803354
esv2664956 CNV deletion 23128226
esv2667501 CNV deletion 23128226
esv2718727 CNV deletion 23290073
esv2718728 CNV deletion 23290073
esv2718730 CNV deletion 23290073
esv2718731 CNV deletion 23290073
esv2751796 CNV gain 17911159
esv3346691 CNV insertion 20981092
esv3583458 CNV loss 25503493
esv3583459 CNV loss 25503493
esv3644642 CNV loss 21293372
esv3644643 CNV loss 21293372
nsv1072891 CNV deletion 25765185
nsv1123272 CNV deletion 24896259
nsv1125676 CNV tandem duplication 24896259
nsv1131438 CNV deletion 24896259
nsv1133010 OTHER inversion 24896259
nsv1138720 CNV deletion 24896259
nsv1140251 OTHER inversion 24896259
nsv1152956 OTHER inversion 26484159
nsv2528 CNV deletion 18451855
nsv428369 CNV loss 18775914
nsv523948 CNV gain 19592680

Variation tolerance for MYH14 Gene

Residual Variation Intolerance Score: 98.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.88; 83.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYH14 Gene

Human Gene Mutation Database (HGMD)
MYH14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH14

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH14 Gene

Disorders for MYH14 Gene

MalaCards: The human disease database

(19) MalaCards diseases for MYH14 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MYH14 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for MYH14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYH14: view

No data available for Genatlas for MYH14 Gene

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 (European journal of oral sciences 2008) 3 22 44 58
  2. 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 (American journal of human genetics 2004) 2 3 4 58
  3. Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family. (PMID: 14594953) Golomb E … Adelstein RS (The Journal of biological chemistry 2004) 3 4 22 58
  4. A novel myosin heavy chain gene in human chromosome 19q13.3. (PMID: 12909352) Leal A … Rautenstrauss B (Gene 2003) 2 3 4 58
  5. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. (PMID: 21480433) Choi BO … Chung KW (Human mutation 2011) 3 4 58

Products for MYH14 Gene

Sources for MYH14 Gene

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