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Gene : CRX Homo sapiens

Name  ? cone-rod homeobox Cytological Location  19q13.33
Brief Description  cone-rod homeobox
Description  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]
  • synonyms:
  • orthodenticle homeobox 3,
  • OTX3,
  • HGNC:2383,
  • OTX3,
  • AF024711,
  • OTTHUMG00000170610,
  • CORD2,
  • uc002phq.5,
  • CRX,
  • LCA7,
  • CORD2,
  • CRD,
  • CRD,
  • LCA7,
  • NM_000554
  • identifiers:
  • 1406,
  • ENSG00000105392,
  • CRX

Genome feature

Region: gene ? Length: 21388  
Location: 19:47821937-47843324 Cyto location: 19q13.33


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

0 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results