InnateDB Gene
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IDBG-59844.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CRX
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Gene Name
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cone-rod homeobox
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Synonyms
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CORD2; CRD; LCA7; OTX3
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Species
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Homo sapiens
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Ensembl Gene
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ENSG00000105392
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Encoded Proteins
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Protein Structure
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Useful resources
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Stemformatics
EHFPI
ImmGen
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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]
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Type |
Protein coding
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Genomic Location
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Chromosome 19:47819779-47843330
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Strand
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Forward strand
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Band
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q13.33
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Transcripts
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Number of Interactions
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This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
19
[view]
|
Protein-Protein |
19
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0000977
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RNA polymerase II regulatory region sequence-specific DNA binding
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GO:0000978
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RNA polymerase II core promoter proximal region sequence-specific DNA binding
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GO:0001077
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RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
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GO:0003677
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DNA binding
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GO:0003682
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chromatin binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0005515
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protein binding
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GO:0035257
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nuclear hormone receptor binding
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GO:0043522
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leucine zipper domain binding
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Biological Process |
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Cellular Component |
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No orthologs found for this gene |
SwissProt
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TrEMBL
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UniProt Splice Variant
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Entrez Gene
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UniGene
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Hs.617342
Hs.617665
Hs.639063
Hs.639114
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RefSeq
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NM_000554
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HUGO
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OMIM
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CCDS
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CCDS12706
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HPRD |
03748
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IMGT
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EMBL
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GenPept
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RNA Seq Atlas
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