CRX (cone-rod homeobox)

2010-05-01  

Identity

HGNC
CRX
LOCATION
19q13.33
LOCUSID
1406
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
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
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
156893552005The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.101
119718692002Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.28
150015702004Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.26
196863872009Differential CRX and OTX2 expression in human retina and retinoblastoma.24
205914862010Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.22
229600692012CRX variants in cone-rod dystrophy and mutation overview.16
225581752012Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD.15
198236802009Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.14
173201812007Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.12
197533122009Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.12

Citation

Dessen P

CRX (cone-rod homeobox)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51475/crx