CRX (cone-rod homeobox)

CRX (cone-rod homeobox)

2010-05-01 Affiliation

Identity

HGNC

LOCATION

19q13.33

LOCUSID

ALIAS

CORD2,CRD,LCA7,OTX3

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)

0

1

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/js/lib/js/lib/popper.js