MYO3A (myosin IIIA)

2006-10-01  

Identity

HGNC
MYO3A
LOCATION
10p12.1
LOCUSID
53904
ALIAS
DFNB30

Other Information

Locus ID:

NCBI: 53904
MIM: 606808
HGNC: 7601
Ensembl: ENSG00000095777

Variants:

dbSNP: 53904
ClinVar: 53904
TCGA: ENSG00000095777
COSMIC: MYO3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095777ENST00000376302Q8NEV4
ENSG00000095777ENST00000478093A0A2R8Y5M1
ENSG00000095777ENST00000543632F5H0U9
ENSG00000095777ENST00000642920Q8NEV4
ENSG00000095777ENST00000647478A0A2R8Y4D5

Expression (GTEx)

0
1
2
3
4
5
6
7
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380424852024The dynamics of actin protrusions can be controlled by tip-localized myosin motors.0
380424852024The dynamics of actin protrusions can be controlled by tip-localized myosin motors.0
339533432022Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.3
344237472022Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.0
347881092022Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.1
339533432022Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.3
344237472022Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.0
347881092022Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.1
330788312021Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.7
330788312021Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.7
325198202020A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.5
325198202020A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.5
298808442018Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.12
298808442018Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.12
267851472016Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin.15

Citation

Dessen P

MYO3A (myosin IIIA)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43366/myo3a-(myosin-iiia)