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CRX Gene

protein-coding   GIFtS: 60
GCID: GC19P048359

Cone-Rod Homeobox


(Previous symbol: CORD2)
  See CRX-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cone-Rod Homeobox1 2     LCA72 5
CORD21 2 3 5     OTX32
Orthodenticle Homeobox 31 2     Cone-Rod Homeobox Protein2
CRD2 5     

External Ids:    HGNC: 23831   Entrez Gene: 14062   Ensembl: ENSG000001053927   OMIM: 6022255   UniProtKB: O431863   

Export aliases for CRX gene to outside databases

Previous GC identifers: GC19P048971 GC19P048716 GC19P053001 GC19P053016 GC19P048325 GC19P044751 GC19P048327 GC19P048337 GC19P048347


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CRX Gene:
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)

GeneCards Summary for CRX Gene:
CRX (cone-rod homeobox) is a protein-coding gene. Diseases associated with CRX include leber congenital amaurosis 7, and crx-related leber congenital amaurosis. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSC.

UniProtKB/Swiss-Prot: CRX_HUMAN, O43186
Function: Binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several
photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors,
e.g. NRL and RX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of
mammalian photoreceptors

Gene Wiki entry for CRX Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CRX gene promoter:
         GATA-3   AP-1   MEF-2   ATF-2   CUTL1   Ik-2   STAT3   c-Jun   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRX promoter sequence
   Search Chromatin IP Primers for CRX

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

CRX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRX gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P048359:  view genomic region     (about GC identifiers)

Start:
48,322,703 bp from pter      End:
48,346,587 bp from pter
Size:
23,885 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CRX_HUMAN, O43186 (See protein sequence)
Recommended Name: Cone-rod homeobox protein  
Size: 299 amino acids; 32261 Da
Subunit: Interacts with SCA7 (By similarity). Interacts with RAX2. Interacts (via the homeobox) with NRL (via the
leucine-zipper domain). Interacts with PDC
Secondary accessions: Q0QD45

Explore the universe of human proteins at neXtProt for CRX: NX_O43186

Explore proteomics data for CRX at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CRX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000545.1  
    ENSEMBL proteins: 
     ENSP00000457808   ENSP00000221996   ENSP00000445565  

    CRX Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CRX
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    Novus Biologicals CRX Proteins
    Novus Biologicals CRX Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CRX

     
    Search eBioscience for Proteins for CRX 

     
    antibodies-online proteins for CRX (10 products) 

     
    Search antibodies-online for peptides for CRX

    CRX Antibody Products:

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    antibodies-online antibodies for CRX (16 products) 

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    Cloud-Clone Corp. ELISAs for CRX
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    antibodies-online kits for CRX (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRD: Homeoboxes / PRD class

    4 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like
     IPR013851 Otx_TF_C

    Graphical View of Domain Structure for InterPro Entry O43186

    ProtoNet protein and cluster: O43186

    UniProtKB/Swiss-Prot: CRX_HUMAN, O43186
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with CRX           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRX_HUMAN, O43186
    Function: Binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several
    photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors,
    e.g. NRL and RX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of
    mammalian photoreceptors

         Genatlas biochemistry entry for CRX:
    phosphoreceptor (cone,rod) specific paired-like homeo domain protein,expressed in developing and mature
    phosphoreceptor cells,binding and transactivating rhodopsin,homolog to Drosophila orthodenticle (Otx)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--
    GO:0005515protein binding ----
    GO:0035257nuclear hormone receptor binding ISS--
         
    Find genes that share ontologies with CRX           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Crx):
     behavior/neurological  cardiovascular system  nervous system  pigmentation  vision/eye 

    Find genes that share phenotypes with CRX           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Crxtm1Clc for CRX

       genOway: Develop your customized and physiologically relevant rodent model for CRX

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GCTAATCC 

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate CRX:
    hsa-miR-877* hsa-miR-1323 hsa-miR-3065-3p hsa-miR-608 hsa-miR-548o
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CRX

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CRX_HUMAN, O43186: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005667transcription factor complex IEA--

    Find genes that share ontologies with CRX           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including CRX: 
              Circadian Rhythms in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CRX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for CRX (O431862, 3 ENSP000002219964) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    M1APQ8TC572, 3, ENSP000002905364MINT-67209 I2D: score=4 STRING: ENSP00000290536
    MDFIQ997502, 3, ENSP000002303214MINT-68224 I2D: score=5 STRING: ENSP00000230321
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    ATXN7O152653, ENSP000003815904I2D: score=1 STRING: ENSP00000381590
    KAT2AQ928303, ENSP000002259164I2D: score=1 STRING: ENSP00000225916
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ISS--
    GO:0007275multicellular organismal development ----
    GO:0007601visual perception IEA--
    GO:0007623circadian rhythm IEA--

    Find genes that share ontologies with CRX           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CRX

    3 Novoseek inferred chemical compound relationships for CRX gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoid 49 3 9792858 (1), 11597600 (1)
    leucine 44.9 4 17356515 (1), 11157887 (1), 15963234 (1)
    zinc 6.33 2 15781457 (1)



    Find genes that share compounds with CRX           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CRX gene: 
    NM_000554.4  

    Unigene Clusters for CRX:

    Cone-rod homeobox
    Hs.617342  [show with all ESTs], Hs.633434 , Hs.639114
    Unigene Representative Sequences: NM_000554, R93872, AF335593
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000566686 ENST00000604324 ENST00000221996(uc010elm.1 uc002phq.4)
    ENST00000556527 ENST00000602001 ENST00000539067
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate CRX:
    hsa-miR-877* hsa-miR-1323 hsa-miR-3065-3p hsa-miR-608 hsa-miR-548o
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Primer
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    OriGene qPCR primer pairs and template standards for CRX
    OriGene qSTAR qPCR primer pairs in human, mouse for CRX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRX
      QuantiTect SYBR Green Assays in human, mouse, rat CRX
      QuantiFast Probe-based Assays in human, mouse, rat CRX

    Additional mRNA sequence: AF335593.1 

    5 DOTS entries:

    DT.97845006  DT.40300522  DT.121453928  DT.100024699  DT.121453948 

    1 AceView cDNA sequence:

    AF442496 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CRX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAGGACCA
    CRX Expression
    About this image


    CRX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 16 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
             Optic cup structures
             lens   
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     NULL (Sensory Organs)    fully expand to see all 5 entries
             Retina-like cells
     
     Neural Ectoderm (Nervous System)
             N2-induced embryoid bodies
     
     Neural Tube (Nervous System)
             Neural rosettes
    CRX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRX Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.617342 Hs.633434 Hs.639114

    UniProtKB/Swiss-Prot: CRX_HUMAN, O43186
    Tissue specificity: Retina

        Pathway & Disease-focused RT2 Profiler PCR Array including CRX: 
              Circadian Rhythms in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CRX gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crx1 , 5 cone-rod homeobox containing gene5
    cone-rod homeobox1
    87.85(n)1
    96.66(a)1
      7 (8.60 cM)5
    129511  NM_001113330.11  NP_001106801.11 
     158659475 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    57(a)
    many ↔ many
    LGf(4108301-4124069)
    zebrafish
    (Danio rerio)
    Actinopterygii crx6
    cone-rod homeobox
    54(a)
    many ↔ many
    5(38532881-38536606) ENSDARG00000011989
    fruit fly
    (Drosophila melanogaster)
    Insecta oc6
    ocelliless
    21(a)
    1 → many
    X(8524192-8544714)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-376
    Protein CEH-37 (ceh-37) mRNA, complete cds
    28(a)
    many ↔ many
    X(14197362-14209153) WBGene00000458


    ENSEMBL Gene Tree for CRX (if available)
    TreeFam Gene Tree for CRX (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CRX gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  PITX22  VSX22  
    PROP12  PITX32  DMBX12  GSC22  MIXL12  OTX12  
    4 SIMAP similar genes for CRX using alignment to 3 protein entries:     CRX_HUMAN (see all proteins):
    OTX2    OTX1    ARGFX    POU6F1

    Find genes that share paralogs with CRX           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CRX
    PGOHUM00000258489


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CRX (see all 804)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617484411,2,,4
    C,FRetinitis pigmentosa (RP)4 untested148528998(+) GGCGGG/ACACGT 2 /D /G mis12Minor allele frequency- A:0.00NA EU 5499
    VAR_0037504
    Cone-rod dystrophy 2 (CORD2)4--see VAR_0037502 R W mis40--------
    VAR_0079494
    Cone-rod dystrophy 2 (CORD2)4--see VAR_0079492 V M mis40--------
    VAR_0087144
    Leber congenital amaurosis 7 (LCA7)4--see VAR_0087142 R W mis40--------
    rs289396821,2,4
    Cone-rod dystrophy 2 (CORD2)4--see VAR_0037512 mis40--------
    VAR_0639194
    Leber congenital amaurosis 7 (LCA7)4--see VAR_0639192 K N mis40--------
    VAR_0079464
    Retinitis pigmentosa (RP)4--see VAR_0079462 R Q mis40--------
    VAR_0364384
    A breast cancer sample4--see VAR_0364382 S F mis40--------
    rs1048946721,2
    Cpathogenic148525829(+) AGCGGC/TGGGAG 2 R W mis10--------
    rs617484361,2
    Cpathogenic148525830(+) GCGGCA/GGGAGC 2 Q R mis10--------

    HapMap Linkage Disequilibrium report for CRX (48322703 - 48346587 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CRX:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718668CNV Deletion23290073
    esv2662621CNV Deletion23128226
    nsv458715CNV Gain19166990
    nsv428367CNV Gain+Loss18775914

    Human Gene Mutation Database (HGMD): CRX
    Locus Specific Mutation Databases (LSDB): CRX

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CRX
    DNA2.0 Custom Variant and Variant Library Synthesis for CRX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602225   
    OMIM disorders: 120970  613829  
    UniProtKB/Swiss-Prot: CRX_HUMAN, O43186
  • Leber congenital amaurosis 7 (LCA7) [MIM:613829]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Cone-rod dystrophy 2 (CORD2) [MIM:120970]: An inherited retinal dystrophy characterized by retinal
    pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone
    photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central
    visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis
    pigmentosa. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Retinitis pigmentosa (RP) [MIM:268000]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 10 diseases for CRX:    
    About MalaCards
    leber congenital amaurosis 7    crx-related leber congenital amaurosis    cone-rod dystrophy 2    crx-related retinitis pigmentosa
    atypical teratoid rhabdoid tumor    rpe65-related leber congenital amaurosis    spinocerebellar ataxia type 7    leber congenital amaurosis
    leber congenital amaurosis 17    cone-rod dystrophy

    4 diseases from the University of Copenhagen DISEASES database for CRX:
    Leber congenital amaurosis     Retinal degeneration     Fundus dystrophy     Blindness

    Find genes that share disorders with CRX           About GenesLikeMe

    9 Novoseek inferred disease relationships for CRX gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers congenital amaurosis 95.9 19 11748859 (3), 9792858 (2), 9931337 (2), 11449318 (2) (see all 11)
    cone-rod dystrophy 93.5 29 9792858 (3), 12819982 (3), 11748859 (2), 9390563 (2) (see all 14)
    retinitis pigmentosa 82.8 9 9792858 (2), 11748859 (1), 15370538 (1), 9390516 (1) (see all 7)
    blindness congenital 77.5 1 10744971 (1)
    retinal degeneration 68.3 6 11951083 (2), 11328746 (2), 17356515 (1), 12187427 (1)
    visual impairment 59.7 2 9931337 (1), 11748859 (1)
    stargardts disease 57.7 1 17270046 (1)
    retinopathy 55.2 4 9792858 (1), 10581037 (1), 9390516 (1)
    retinoblastoma 49.5 19 11597600 (4), 19686387 (4), 19936203 (2)

    GeneTests: CRX
    GeneReviews: CRX
    Genetic Association Database (GAD): CRX
    Human Genome Epidemiology (HuGE) Navigator: CRX (4 documents)

    Export disorders for CRX gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CRX gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with CRX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. (PubMed id 9792858)1, 2, 4, 9 Sohocki M.M.... Daiger S.P. (Am. J. Hum. Genet. 1998)
    2. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. (PubMed id 9390563)1, 2, 3, 9 Freund C.L.... McInnes R.R. (Cell 1997)
    3. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. (PubMed id 9931337)1, 2, 9 Swaroop A.... Sieving P.A. (Hum. Mol. Genet. 1999)
    4. Mutations in the cone-rod homeobox gene are associated with the cone- rod dystrophy photoreceptor degeneration. (PubMed id 9427255)1, 2, 9 Swain P.K.... Zack D.J. (Neuron 1997)
    5. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    6. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PubMed id 20591486)1, 4 Clark G.R.... Simpson D.A. (Ophthalmology 2010)
    7. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PubMed id 19753312)1, 4 Sundaresan P....Stone E.M. (Mol. Vis. 2009)
    8. Mapping of transcription start sites of human retina expressed genes. (PubMed id 17286855)1, 2 Roni V.... Wissinger B. (BMC Genomics 2007)
    9. QRX, a novel homeobox gene, modulates photoreceptor gene expression. (PubMed id 15028672)1, 2 Wang Q.-L.... Zack D.J. (Hum. Mol. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1406 HGNC: 2383 AceView: CRX.2 Ensembl:ENSG00000105392 euGenes: HUgn1406
    ECgene: CRX H-InvDB: CRX

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CRX Pharmacogenomics, SNPs, Pathways
    Mutations of the CRX genehttp://www.retina-international.org/files/sci-news/crxmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CRX[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CRX gene:
    Search GeneIP for patents involving CRX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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