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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CRX Gene

protein-coding   GIFtS: 57
GCID: GC19P048337

cone-rod homeobox


(Previous symbol: CORD2)
 Explore 24 diseases affiliated with
CRX via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CRX    

Aliases
for CRX gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cone-Rod Homeobox1 2     OTX31 2
CORD21 2 3 5     Cone-Rod Homeobox Protein2
CRD1 2 5     Orthodenticle Homeobox 32
LCA71 2 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


Summaries
for CRX gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 plasmid: CRX promoter sequence
   Search SABiosciences Chromatin IP Primers for CRX

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC19P048337:  view genomic region     (about GC identifiers)

Start:
 48,322,703 bp from pter      End:
 48,364,769 bp from pter
Size:
 42,067 bases      Orientation:
 plus strand

Proteins
for CRX gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus (By similarity)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43186

    • CRX Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000545.1  
    ENSEMBL proteins: 
     ENSP00000457808   ENSP00000221996   ENSP00000450582   ENSP00000450840   ENSP00000440389  
     ENSP00000445565  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: CRX
    OriGene Custom Protein Services for CRX 
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    Novus Biologicals CRX Proteins
    Novus Biologicals CRX Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CRX

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    CRX for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CRX

    Protein Domains /
    Families
    for CRX gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CRX for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     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


    Function
    for CRX gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRX
    5 QIAGEN miScript miRNA 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
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRX (see all 7)
    OriGene shRNA RFP: CRX
    OriGene siRNA: CRX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRX

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CRX

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRX (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CRX (NM_000554)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRX 

    Cell Line
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    Search LifeMap BioReagents cell lines for CRX

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043522leucine zipper domain binding IPI10887186


    CRX for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Crxtm1Clc for CRX
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Crx):
     behavior/neurological  nervous system  pigmentation  vision/eye 

    CRX for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CRX gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CRX

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

    5/19 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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007601visual perception IEA--
    GO:0009887organ morphogenesis TAS9390563
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--


    CRX for ontologies           About GeneDecksing



    Drugs & Compounds
    for CRX gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CRX for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRX
    3 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CRX 

    Transcripts
    for CRX gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000566686 ENST00000221996(uc010elm.1 uc002phq.4) ENST00000556900
    ENST00000556527 ENST00000557738 ENST00000535362 ENST00000539067

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRX
    5 QIAGEN miScript miRNA 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
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRX (see all 7)
    OriGene shRNA RFP: CRX
    OriGene siRNA: CRX
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRX
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRX
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CRX (NM_000554)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRX 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CRX
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CRX
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRX
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRX

    Additional cDNA sequence: AF335593.1 

    5 DOTS entries:

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

    1 AceView cDNA sequence:

    AF442496 

    GeneLoc Exon Structure


    Expression
    for CRX gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CRX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCAGGACCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CRX expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerCone Precursor CellsPhotoreceptors, Retina
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    EyeOuter Nuclear LayerRod Precursor CellsPhotoreceptors, Retina
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    EyeInner Nuclear LayerCone Bipolar Precursor CellsBipolar, Retina
    EyeInner Nuclear LayerRod Bipolar Precursor CellsBipolar, Retina
    EyeNeuroblastic LayerEarly Photoreceptor Precursor CellsPhotoreceptors, Retina
    EyeNeuroblastic LayerLate Photoreceptor Precursor CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    Photoreceptor-like cells (Differentiation of h...)
    Optic cup structures (Generation of strati...)
    Retinal progenitor-like cells (Generation of retina...)
    Photoreceptors-like cells (Generation of photor...)
    Photoreceptor-like cells (Generation of retina...)Eye
    Retina-like cells (Generation of retina...)
    N2-induced embryoid bodies (Generation of photor...)
    Neural rosettes (Generation of photor...)

    See CRX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRX

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

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

        SABiosciences Expression via Pathway-Focused PCR Array including CRX: 
              Circadian Rhythms in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for CRX gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CRX gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia CRX6
    ARGFX6
    (see all 3)    		 --
    		 56(a)
    45(a)
    (see all 3)    		 possible ortholog
    1 ↔ 1
    (see all 3)    		 LGf(4108301-4123983)
    AAWZ02037392(13248-13877)
    zebrafish
    (Danio rerio)    		 Actinopterygii otx56
    crx6
    (see all 5)    		 cone-rod homeobox
    (see all 5)    		 57(a)
    53(a)
    (see all 5)    		 possible ortholog
    possible ortholog
    (see all 5)    		 15(46861776-46867193)
    5(38532881-38536606)
    fruit fly
    (Drosophila melanogaster)    		 Insecta oc6
    		 ocelliless
    		 12(a)
    		 possible ortholog
    		 X(8524192-8544714)
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-376
    ceh-366
    (see all 3)    		 Homeobox protein ceh-36
    (see all 3)    		 18(a)
    17(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 X(14197293-14209084)
    X(14183380-14185528)


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

    Paralogs
    for CRX gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRX gene
    GSC2  OTX22  HESX12  PROP12  ARGFX2  DMBX12  GSC22  SEBOX2  
    MIXL12  OTX12  
    15 SIMAP similar genes for CRX using alignment to 5 protein entries:     CRX_HUMAN (see all proteins):
    OTX1    OTX2    PITX2    TPRX1    NKX2-5    MNX1
    DUX4    ARGFX    POU6F1    DUX2    PAX6    HOXB1
    HOXA4    MSX1    PRRX2

    CRX for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CRX
    PGOHUM00000258489


    Genomic Variants
    for CRX gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/660 NCBI SNPs in CRX are shown (see all 660)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048946721,2
    		Cpathogenic48339520(+) AGCGGC/TGGGAG 2 R W mis10--------
    rs617484361,2
    		Cpathogenic48339521(+) GCGGCA/GGGAGC 2 Q R mis10--------
    rs1048946711,2
    		Cpathogenic48339638(+) GCCTGA/CGTCCA 2 E A mis10--------
    rs1048946731,2
    		Cpathogenic48342592(+) AGAACC/TGGAGG 2 R W mis10--------
    rs621319121,2
    		C,--48323130(+) CAGGGG/TGTCTG 1 -- us2k12Minor allele frequency- T:0.12NA 122
    rs2000875211,2
    		--48323160(+) CATCA-/GGAGCC 1 -- us2k10--------
    rs1840708721,2
    		--48323180(+) GTCGCC/TGAGGG 1 -- us2k10--------
    rs735657751,2
    		C,--48323215(+) TGTCAT/CCCCTG 1 -- us2k12Minor allele frequency- C:0.25WA 120
    rs735657761,2
    		C,--48323293(+) GGGGGT/CTTGGG 1 -- us2k12Minor allele frequency- C:0.25WA 120
    rs766747821,2
    		C,F,--48323369(+) ATTACC/TGGGCG 1 -- us2k12Minor allele frequency- T:0.12WA NA 238

    HapMap Linkage Disequilibrium report for CRX (48322703 - 48364769 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CRX: --
    Human Gene Mutation Database (HGMD): CRX

    Locus Specific Mutation Databases (LSDB): CRX

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CRX
    DNA2.0 Custom Variant and Variant Library Synthesis for CRX

    Disorders / Diseases
    for CRX gene

    (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.)
    About This Section
    CRX for disorders           About GeneDecksing

    OMIM gene information: 602225   
    OMIM disorders: 120970  268000  
    UniProtKB/Swiss-Prot: CRX_HUMAN, O43186
  • Defects in CRX are the cause of Leber congenital amaurosis type 7 (LCA7) [MIM:613829]. LCA designates a
    • clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal
    recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography.
    LCA represents the most common genetic cause of congenital visual impairment in infants and children
  • Defects in CRX are the cause of cone-rod dystrophy type 2 (CORD2) [MIM:120970]; also known as cone-rod retinal
    • dystrophy 2 (CRD2). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs
    are 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
  • Defects in CRX are a cause of retinitis pigmentosa (RP) [MIM:268000]. RP leads to degeneration of retinal
    • photoreceptor cells. 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

    20/24 diseases for CRX (see all 24):    About MalaCards
    cone-rod dystrophy    cone-rod dystrophy 2    leber congenital amaurosis    retinitis pigmentosa, late-onset dominant
    leber congenital amaurosis 7    spinocerebellar ataxia type 7    enhanced s-cone syndrome    retinitis pigmentosa
    stargardt disease    spinocerebellar ataxia    pigmentary retinopathy    fundus dystrophy
    retinal degeneration    retinitis    macular degeneration    coloboma
    keratoconus    blindness    ataxia    retinoblastoma

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

    9 Novoseek 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
    Leber Congenital Amaurosis

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

    Export disorders for CRX gene to outside databases

    Publications
    for CRX gene

    (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

    PubMed articles for CRX gene, integrated from 9 sources (see all 131):
    (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. (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. (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. (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. (1997)
    5. QRX, a novel homeobox gene, modulates photoreceptor gene expression. (PubMed id 15028672)1, 2 Wang Q.-L.... Zack D.J. (2004)
    6. 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. (2004)
    7. The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. (PubMed id 10887186)1, 2 Mitton K.P....Swaroop A. (2000)
    8. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. (PubMed id 9537410)1, 3 Freund C.L....Stone E.M. (1998)
    9. CRX is a diagnostic marker of retinal and pineal line age tumors. (PubMed id 19936203)1, 9 Santagata S....Ligon K.L. (2009)
    10. Differential CRX and OTX2 expression in human retina and retinoblastoma. (PubMed id 19686387)1, 9 Glubrecht D.D....Godbout R. (2009)

    External Searches for CRX gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing CRX gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1406 HGNC: 2383 AceView: CRX.2 Ensembl:ENSG00000105392 euGenes: HUgn1406
    ECgene: CRX H-InvDB: CRX

    Other Databases showing CRX gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CRX gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/CRX

    Intellectual Property
    for CRX gene

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

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