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    CRX cone-rod homeobox [ Homo sapiens (human) ]

    Gene ID: 1406, updated on 22-Apr-2017
    Official Symbol
    CRXprovided by HGNC
    Official Full Name
    cone-rod homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:2383
    See related
    Ensembl:ENSG00000105392 MIM:602225; Vega:OTTHUMG00000170610
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRD; LCA7; OTX3; CORD2
    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]
    Orthologs
    Location:
    19q13.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (47821842..47843330)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48323807..48346587)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 80 Neighboring gene tetrapeptide repeat homeobox 1 Neighboring gene tetrapeptide repeat homeobox 2, pseudogene Neighboring gene long intergenic non-protein coding RNA 1595

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of photoreceptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    cone-rod homeobox protein
    Names
    orthodenticle homeobox 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008605.1 RefSeqGene

      Range
      4999..26489
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000554.5NP_000545.1  cone-rod homeobox protein

      See identical proteins and their annotated locations for NP_000545.1

      Status: REVIEWED

      Source sequence(s)
      AC008745, BE782215, BG396702, BQ423938, BU736672
      Consensus CDS
      CCDS12706.1
      UniProtKB/Swiss-Prot
      O43186
      Related
      ENSP00000221996.5, OTTHUMP00000244137, ENST00000221996.11, OTTHUMT00000409812
      Conserved Domains (2) summary
      pfam00046
      Location:4393
      Homeobox; Homeobox domain
      pfam03529
      Location:164249
      TF_Otx; Otx1 transcription factor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      47821842..47843330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      48327266..48348759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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