MYO15A (myosin XVA)

2014-11-01  

Identity

HGNC
MYO15A
LOCATION
17p11.2
LOCUSID
51168
ALIAS
DFNB3,MYO15
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51168
MIM: 602666
HGNC: 7594
Ensembl: ENSG00000091536

Variants:

dbSNP: 51168
ClinVar: 51168
TCGA: ENSG00000091536
COSMIC: MYO15A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091536ENST00000418233Q9UKN7
ENSG00000091536ENST00000556535G3V4G3
ENSG00000091536ENST00000557655G3V4Q3
ENSG00000091536ENST00000578472K7EQV1
ENSG00000091536ENST00000578575K7EMS7
ENSG00000091536ENST00000579848K7EL45
ENSG00000091536ENST00000615845A0A087WYA1
ENSG00000091536ENST00000644795A0A2R8Y712
ENSG00000091536ENST00000647165Q9UKN7
ENSG00000091536ENST00000651088A0A494C1B3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
thyroid gland
adrenal gland
pituitary gland
nasopharynx
bronchus
lung
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
175466452007Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.37
206423602010Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.24
227364302012Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.23
192747352009Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.21
193092892009Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus.19
238659142013Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.19
257926672015Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.19
222455182012Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.18
269152972016Effects of genetic correction on the differentiation of hair cell-like cells from iPSCs with MYO15A mutation.17
178534612007MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.16

Citation

Dessen P

MYO15A (myosin XVA)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70625/myo15a