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
cone-rod homeobox
cone-rod homeobox
cone-rod homeobox
cone-rod homeobox
cone-rod homeobox
Protein Structure
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 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
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
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