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: 1406
MIM: 602225
HGNC: 2383
Ensembl: ENSG00000105392
Variants:
dbSNP: 1406
ClinVar: 1406
TCGA: ENSG00000105392
COSMIC: CRX
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000105392 | ENST00000221996 | O43186 |
| ENSG00000105392 | ENST00000539067 | O43186 |
| ENSG00000105392 | ENST00000566686 | H3BUU7 |
| ENSG00000105392 | ENST00000613299 | A0A087WTS9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38792980 | 2024 | Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients. | 0 |
| 38792980 | 2024 | Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients. | 0 |
| 33165094 | 2021 | Distantly Metastatic Retinoblastoma to Soft Tissue and Bone: A Challenging Diagnosis Highlighting the Utility of CRX. | 0 |
| 34192607 | 2021 | Downregulation of CRX, a Group 3-specific oncogenic transcription factor, inhibits TGF-β/activin signaling in medulloblastoma cells. | 2 |
| 34653402 | 2021 | Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model. | 18 |
| 33165094 | 2021 | Distantly Metastatic Retinoblastoma to Soft Tissue and Bone: A Challenging Diagnosis Highlighting the Utility of CRX. | 0 |
| 34192607 | 2021 | Downregulation of CRX, a Group 3-specific oncogenic transcription factor, inhibits TGF-β/activin signaling in medulloblastoma cells. | 2 |
| 34653402 | 2021 | Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model. | 18 |
| 32533067 | 2020 | Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. | 14 |
| 32533067 | 2020 | Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. | 14 |
| 30460480 | 2019 | A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations. | 7 |
| 30926958 | 2019 | A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. | 18 |
| 30945053 | 2019 | Retinal dystrophies with bull's-eye maculopathy along with negative ERGs. | 8 |
| 31215831 | 2019 | Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy. | 8 |
| 31626798 | 2019 | Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis. | 11 |
Citation
Dessen P
CRX (cone-rod homeobox)
Atlas Genet Cytogenet Oncol Haematol. 2010-05-01
Online version: http://atlasgeneticsoncology.org/gene/51475/crx-(cone-rod-homeobox)
