Identity
HGNC
LOCATION
1q41
LOCUSID
ALIAS
RP39,US2,USH2,dJ1111A8.1
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: 7399
MIM: 608400
HGNC: 12601
Ensembl: ENSG00000042781
Variants:
dbSNP: 7399
ClinVar: 7399
TCGA: ENSG00000042781
COSMIC: USH2A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000042781 | ENST00000307340 | O75445 |
| ENSG00000042781 | ENST00000366942 | O75445 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38016437 | 2024 | The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes. | 0 |
| 38135239 | 2024 | Functional Vision in Patients With Biallelic USH2A Variants. | 0 |
| 38879497 | 2024 | High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. | 0 |
| 39044131 | 2024 | A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy. | 0 |
| 38016437 | 2024 | The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes. | 0 |
| 38135239 | 2024 | Functional Vision in Patients With Biallelic USH2A Variants. | 0 |
| 38879497 | 2024 | High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. | 0 |
| 39044131 | 2024 | A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy. | 0 |
| 36314366 | 2023 | Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa. | 0 |
| 36751700 | 2023 | USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer. | 2 |
| 36785559 | 2023 | Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. | 6 |
| 36856324 | 2023 | Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review. | 0 |
| 36948373 | 2023 | Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration. | 3 |
| 36980924 | 2023 | Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy. | 1 |
| 37287646 | 2023 | USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients. | 1 |
Citation
Dessen P
USH2A (usherin)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75518
