MYH14 (myosin heavy chain 14)

2014-11-01  

Identity

HGNC
MYH14
LOCATION
19q13.33
LOCUSID
79784
ALIAS
DFNA4,DFNA4A,FP17425,MHC16,MYH17,NMHC II-C,NMHC-II-C,PNMHH,myosin
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383529972024Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.0
383529972024Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.0
340512362021Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner.6
343743412021Distinct roles of nonmuscle myosin II isoforms for establishing tension and elasticity during cell morphodynamics.9
346810172021Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.3
340512362021Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner.6
343743412021Distinct roles of nonmuscle myosin II isoforms for establishing tension and elasticity during cell morphodynamics.9
346810172021Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.3
327114512020A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.3
327114512020A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.3
306549372019Electrostatic interactions in the force-generating region of the human cardiac myosin modulate ADP dissociation from actomyosin.4
306909232019Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy.14
312310182019The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.23
306549372019Electrostatic interactions in the force-generating region of the human cardiac myosin modulate ADP dissociation from actomyosin.4
306909232019Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy.14

Citation

Dessen P

MYH14 (myosin heavy chain 14)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70608/myh14-(myosin-heavy-chain-14)