MYO7A (myosin VIIA)

2009-11-01  

Identity

HGNC
MYO7A
LOCATION
11q13.5
LOCUSID
4647
ALIAS
DFNA11,DFNB2,MYOVIIA,MYU7A,NSRD2,USH1B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4647
MIM: 276903
HGNC: 7606
Ensembl: ENSG00000137474

Variants:

dbSNP: 4647
ClinVar: 4647
TCGA: ENSG00000137474
COSMIC: MYO7A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137474ENST00000409619Q13402
ENSG00000137474ENST00000409709Q13402
ENSG00000137474ENST00000409893B9A012
ENSG00000137474ENST00000458169H7C4D8
ENSG00000137474ENST00000458637Q13402
ENSG00000137474ENST00000620575A0A087WT71
ENSG00000137474ENST00000660626A0A590UJG0
ENSG00000137474ENST00000669443A0A590UJR8
ENSG00000137474ENST00000670577A0A590UJ94

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902

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
124859902002Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.158
156602262005Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.53
181812112008Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.46
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
190748102009Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.43
184631602008Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.42
233440652013Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus.39
196839992010Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.33
214827632011Cargo binding activates myosin VIIA motor function in cells.30
193248522009Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.28

Citation

Dessen P

MYO7A (myosin VIIA)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51198/myo7a