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

Gene ID: 1406, updated on 28-May-2015
Official Symbol
CRXprovided by HGNC
Official Full Name
cone-rod homeoboxprovided by HGNC
Primary source
HGNC:HGNC:2383
See related
Ensembl:ENSG00000105392; HPRD:03748; 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
See CRX in MapViewer
Location:
19q13.3
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 tetra-peptide repeat homeobox 1 Neighboring gene uncharacterized LOC102725176 Neighboring gene tetra-peptide repeat homeobox 2 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
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
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cone-rod homeobox protein
Names
cone-rod homeobox protein
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
    5001..26489
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000554.4NP_000545.1  cone-rod homeobox protein

    See identical proteins and their annotated locations for NP_000545.1

    Status: REVIEWED

    Source sequence(s)
    AC008745, AH012061, AL711350, BT007364, BU736672
    Consensus CDS
    CCDS12706.1
    UniProtKB/Swiss-Prot
    O43186
    Related
    ENSP00000221996, OTTHUMP00000244137, ENST00000221996, OTTHUMT00000409812
    Conserved Domains (2) summary
    cd00086
    Location:4094
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:164250
    TF_Otx; Otx1 transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 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)