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
364849532023New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.0
366300742023Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.1
375862942023Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.1
379968782023Dispersed DNA variants underlie hearing loss in South Florida's minority population.3
364849532023New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.0
366300742023Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.1
375862942023Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.1
379968782023Dispersed DNA variants underlie hearing loss in South Florida's minority population.3
361647462022Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.1
361647462022Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.1
319976892021Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss.2
335761632021Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.6
336719762021Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.8
339766952021Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.2
343911922021Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.10

Citation

Dessen P

MYO7A (myosin VIIA)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51198/myo7a-(myosin-viia)