CRX (cone-rod homeobox)

2010-05-01  

Identity

HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
CORD2,CRD,LCA7,OTX3

Other Information

Locus ID:

NCBI: 1406
MIM: 602225
HGNC: 2383
Ensembl: ENSG00000105392

Variants:

dbSNP: 1406
ClinVar: 1406
TCGA: ENSG00000105392
COSMIC: CRX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105392ENST00000221996O43186
ENSG00000105392ENST00000539067O43186
ENSG00000105392ENST00000566686H3BUU7
ENSG00000105392ENST00000613299A0A087WTS9

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387929802024Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.0
387929802024Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.0
331650942021Distantly Metastatic Retinoblastoma to Soft Tissue and Bone: A Challenging Diagnosis Highlighting the Utility of CRX.0
341926072021Downregulation of CRX, a Group 3-specific oncogenic transcription factor, inhibits TGF-β/activin signaling in medulloblastoma cells.2
346534022021Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model.18
331650942021Distantly Metastatic Retinoblastoma to Soft Tissue and Bone: A Challenging Diagnosis Highlighting the Utility of CRX.0
341926072021Downregulation of CRX, a Group 3-specific oncogenic transcription factor, inhibits TGF-β/activin signaling in medulloblastoma cells.2
346534022021Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model.18
325330672020Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.14
325330672020Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.14
304604802019A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations.7
309269582019A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.18
309450532019Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.8
312158312019Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy.8
316267982019Pathogenicity 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/js/deep-insight-explorer/