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CRX (cone-rod homeobox)

Identity

Other namesCORD2
CRD
LCA7
OTX3
HGNC (Hugo) CRX
LocusID (NCBI) 1406
Atlas_Id 51475
Location 19q13.33
Location_base_pair Starts at 48325099 and ends at 48346586 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)CRX   2383
Cards
Entrez_Gene (NCBI)CRX  1406  cone-rod homeobox
GeneCards (Weizmann)CRX
Ensembl hg19 (Hinxton)ENSG00000105392 [Gene_View]  chr19:48325099-48346586 [Contig_View]  CRX [Vega]
Ensembl hg38 (Hinxton)ENSG00000105392 [Gene_View]  chr19:48325099-48346586 [Contig_View]  CRX [Vega]
ICGC DataPortalENSG00000105392
TCGA cBioPortalCRX
AceView (NCBI)CRX
Genatlas (Paris)CRX
WikiGenes1406
SOURCE (Princeton)CRX
Genomic and cartography
GoldenPath hg19 (UCSC)CRX  -     chr19:48325099-48346586 +  19q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CRX  -     19q13.33   [Description]    (hg38-Dec_2013)
EnsemblCRX - 19q13.33 [CytoView hg19]  CRX - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBICRX [Mapview hg19]  CRX [Mapview hg38]
OMIM120970   268000   602225   613829   
Gene and transcription
Genbank (Entrez)AF335247 AF335249 AF335593 AF335594 AF335595
RefSeq transcript (Entrez)NM_000554
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_008605 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)CRX
Cluster EST : UnigeneHs.639114 [ NCBI ]
CGAP (NCI)Hs.639114
Alternative Splicing : Fast-db (Paris)GSHG0015060
Alternative Splicing GalleryENSG00000105392
Gene ExpressionCRX [ NCBI-GEO ]     CRX [ SEEK ]   CRX [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43186 (Uniprot)
NextProtO43186  [Medical]  [Publications]
With graphics : InterProO43186
Splice isoforms : SwissVarO43186 (Swissvar)
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like    Otx_TF_C   
Related proteins : CluSTrO43186
Domain families : Pfam (Sanger)Homeobox (PF00046)    TF_Otx (PF03529)   
Domain families : Pfam (NCBI)pfam00046    pfam03529   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM Disease mutations1406
Blocks (Seattle)O43186
Human Protein AtlasENSG00000105392
Peptide AtlasO43186
HPRD03748
IPIIPI00011226   IPI00954900   IPI00977106   
Protein Interaction databases
DIP (DOE-UCLA)O43186
IntAct (EBI)O43186
FunCoupENSG00000105392
BioGRIDCRX
IntegromeDBCRX
STRING (EMBL)CRX
Ontologies - Pathways
QuickGOO43186
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  visual perception  circadian rhythm  organ morphogenesis  nuclear hormone receptor binding  leucine zipper domain binding  positive regulation of transcription from RNA polymerase II promoter  positive regulation of photoreceptor cell differentiation  response to stimulus  retina development in camera-type eye  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  visual perception  circadian rhythm  organ morphogenesis  nuclear hormone receptor binding  leucine zipper domain binding  positive regulation of transcription from RNA polymerase II promoter  positive regulation of photoreceptor cell differentiation  response to stimulus  retina development in camera-type eye  
Protein Interaction DatabaseCRX
DoCM (Curated mutations)CRX
Wikipedia pathwaysCRX
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerCRX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRX
dbVarCRX
ClinVarCRX
1000_GenomesCRX 
Exome Variant ServerCRX
SNP (GeneSNP Utah)CRX
SNP : HGBaseCRX
Genetic variants : HAPMAPCRX
Genomic Variants (DGV)CRX [DGVbeta]
Mutations
ICGC Data PortalCRX 
TCGA Data PortalCRX 
Tumor PortalCRX
Somatic Mutations in Cancer : COSMICCRX 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:48325099-48346586
CONAN: Copy Number AnalysisCRX 
Mutations and Diseases : HGMDCRX
OMIM120970    268000    602225    613829   
MedgenCRX
NextProtO43186 [Medical]
GENETestsCRX
Disease Genetic AssociationCRX
Huge Navigator CRX [HugePedia]  CRX [HugeCancerGEM]
snp3D : Map Gene to Disease1406
DGIdb (Drug Gene Interaction db)CRX
BioCentury BCIQCRX
General knowledge
Homologs : HomoloGeneCRX
Homology/Alignments : Family Browser (UCSC)CRX
Phylogenetic Trees/Animal Genes : TreeFamCRX
Chemical/Protein Interactions : CTD1406
Chemical/Pharm GKB GenePA26903
Clinical trialCRX
Cancer Resource (Charite)ENSG00000105392
Other databases
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
CoreMineCRX
GoPubMedCRX
iHOPCRX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:24:53 CEST 2015

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