Identity
HGNC
LOCATION
11q13.5
LOCUSID
ALIAS
DFNA11,DFNB2,MYOVIIA,MYU7A,NSRD2,USH1B
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4647
MIM: 276903
HGNC: 7606
Ensembl: ENSG00000137474
Variants:
dbSNP: 4647
ClinVar: 4647
TCGA: ENSG00000137474
COSMIC: MYO7A
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signal Transduction | REACTOME | R-HSA-162582 |
| Visual phototransduction | REACTOME | R-HSA-2187338 |
| The canonical retinoid cycle in rods (twilight vision) | REACTOME | R-HSA-2453902 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36484953 | 2023 | New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family. | 0 |
| 36630074 | 2023 | Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS. | 1 |
| 37586294 | 2023 | Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B. | 1 |
| 37996878 | 2023 | Dispersed DNA variants underlie hearing loss in South Florida's minority population. | 3 |
| 36484953 | 2023 | New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family. | 0 |
| 36630074 | 2023 | Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS. | 1 |
| 37586294 | 2023 | Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B. | 1 |
| 37996878 | 2023 | Dispersed DNA variants underlie hearing loss in South Florida's minority population. | 3 |
| 36164746 | 2022 | Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss. | 1 |
| 36164746 | 2022 | Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss. | 1 |
| 31997689 | 2021 | Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss. | 2 |
| 33576163 | 2021 | Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials. | 6 |
| 33671976 | 2021 | Spectrum 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 |
| 33976695 | 2021 | Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families. | 2 |
| 34391192 | 2021 | Rare 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)
