Homo sapiens Gene: CRX

Summary
InnateDB Gene IDBG-59844.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol CRX
Gene Name cone-rod homeobox
Synonyms CORD2; CRD; LCA7; OTX3
Species Homo sapiens
Ensembl Gene ENSG00000105392
Encoded Proteins
IDBP-59846 cone-rod homeobox
IDBP-602399 cone-rod homeobox
IDBP-596832 cone-rod homeobox
IDBP-599824 cone-rod homeobox
IDBP-588427 cone-rod homeobox
IDBP-763142
Entrez Gene
Summary The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19: 48322703-48364769
Strand Forward strand
Band q13.33
Transcripts
ENST00000221996  ENSP00000221996
ENST00000556900  ENSP00000450582
ENST00000556527 
ENST00000557738  ENSP00000450840
ENST00000535362  ENSP00000440389
ENST00000539067  ENSP00000445565
ENST00000566686  ENSP00000457808
ENST00000602001 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein‑Protein  13
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043522 leucine zipper domain binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006351 transcription, DNA-dependent
GO:0006355 regulation of transcription, DNA-dependent
GO:0007275 multicellular organismal development
GO:0007601 visual perception
GO:0009887 organ morphogenesis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050896 response to stimulus
GO:0060041 retina development in camera-type eye
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O43186 
TrEMBL A4GUB7 F5GXB4 H3BUU7 Q0QD45
UniProt Splice Variant
Entrez Gene 1406 
UniGene Hs.617342 Hs.617665 Hs.639063 Hs.639114
RefSeq NM_000554 
HUGO 2383 
OMIM 602225
CCDS CCDS12706 
HPRD 03748
IMGT
EMBL AC008745 AC024582 AF024711 BC016664 BC053672 BT007364 DQ426868 EF432655
GenPept AAB88418  AAP36028  ABD90533  ABO31091 
ImmGen CRX (murine) 
RNA Seq Atlas 1406