MYH14 (myosin heavy chain 14)

2014-11-01  

Identity

HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
DFNA4,DFNA4A,FP17425,MHC16,MYH17,NMHC II-C,NMHC-II-C,PNMHH,myosin
FUSION GENES

Other Information

Locus ID:

NCBI: 79784
MIM: 608568
HGNC: 23212
Ensembl: ENSG00000105357

Variants:

dbSNP: 79784
ClinVar: 79784
TCGA: ENSG00000105357
COSMIC: MYH14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105357ENST00000262269A0A0C4DFM8
ENSG00000105357ENST00000376970Q7Z406
ENSG00000105357ENST00000425460Q7Z406
ENSG00000105357ENST00000440075A1L2Z2
ENSG00000105357ENST00000596571Q7Z406
ENSG00000105357ENST00000598205Q7Z406
ENSG00000105357ENST00000599920M0QY43
ENSG00000105357ENST00000642316Q7Z406
ENSG00000105357ENST00000642980A0A2R8Y454
ENSG00000105357ENST00000646861A0A2R8Y4C3

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Regulation of actin cytoskeletonKEGGko04810
Tight junctionKEGGhsa04530
Regulation of actin cytoskeletonKEGGhsa04810
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ROCKsREACTOMER-HSA-5627117
RHO GTPases activate PAKsREACTOMER-HSA-5627123
RHO GTPases activate PKNsREACTOMER-HSA-5625740
RHO GTPases activate CITREACTOMER-HSA-5625900
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Semaphorin interactionsREACTOMER-HSA-373755
Sema4D in semaphorin signalingREACTOMER-HSA-400685
Sema4D induced cell migration and growth-cone collapseREACTOMER-HSA-416572
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPHA-mediated growth cone collapseREACTOMER-HSA-3928663

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
240727162013Characterization of three full-length human nonmuscle myosin II paralogs.75
158455342005Disease-associated mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C.60
150151312004Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).54
213681332011Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).52
261241322015Constitutive phosphorylation of cardiac myosin regulatory light chain prevents development of hypertrophic cardiomyopathy in mice.34
214781572011Comparative kinetic and functional characterization of the motor domains of human nonmuscle myosin-2C isoforms.25
191833432009Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations.23
192400252009An alternatively spliced isoform of non-muscle myosin II-C is not regulated by myosin light chain phosphorylation.18
214804332011A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.14
282217122017Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.6

Citation

Dessen P

MYH14 (myosin heavy chain 14)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70608/myh14