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CECR6 Gene

protein-coding   GIFtS: 40
GCID: GC22M017597

Cat Eye Syndrome Chromosome Region, Candidate 6

  See CECR6-related disease
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
Cat Eye Syndrome Chromosome Region, Candidate 61 2
Cat Eye Syndrome Critical Region Protein 62

External Ids:    HGNC: 18441   Entrez Gene: 274392   Ensembl: ENSG000001833077   UniProtKB: Q9BXQ63   

Export aliases for CECR6 gene to outside databases

Previous GC identifers: GC22M014541 GC22M015971 GC22M001417


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CECR6 Gene:
CECR6 (cat eye syndrome chromosome region, candidate 6) is a protein-coding gene. Diseases associated with CECR6 include cat eye syndrome.


(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_000022.10  NC_018933.2  NT_187355.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the CECR6 gene promoter:
         Max1   SRF   NF-1   NF-1/L   Elk-1   SRF (504 AA)   NRSF form 1   CUTL1   NRSF form 2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCECR6 promoter sequence
   Search Chromatin IP Primers for CECR6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CECR6


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

Ensembl cytogenetic band:  22q11.1   HGNC cytogenetic band: 22q11.2

CECR6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CECR6 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M017597:  view genomic region     (about GC identifiers)

Start:
17,597,189 bp from pter      End:
17,602,257 bp from pter
Size:
5,069 bases      Orientation:
minus 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: CECR6_HUMAN, Q9BXQ6 (See protein sequence)
Recommended Name: Cat eye syndrome critical region protein 6  
Size: 578 amino acids; 58425 Da
Miscellaneous: Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the
duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited
isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is
characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting
palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and
normal or near-normal mental development
Secondary accessions: A8MYY1
Alternative splicing: 2 isoforms:  Q9BXQ6-1   Q9BXQ6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CECR6: NX_Q9BXQ6

Explore proteomics data for CECR6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CECR6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001156551.1  NP_114096.1  

    ENSEMBL proteins: 
     ENSP00000382764   ENSP00000329318  

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    antibodies-online peptides for CECR6

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026624 CECR6

    Graphical View of Domain Structure for InterPro Entry Q9BXQ6

    ProtoNet protein and cluster: Q9BXQ6


    Find genes that share domains with CECR6           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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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CECR6

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CECR6 (see all 83):
    hsa-miR-3194-5p hsa-miR-3146 hsa-miR-15a hsa-miR-30d hsa-miR-3138 hsa-miR-3916 hsa-miR-4267 hsa-miR-30a
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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 COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    mitochondrion1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CECR6
    Interactions:

        Search GeneGlobe Interaction Network for CECR6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CECR6 (Q9BXQ63 ENSP000003293184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KDM5BQ9UGL13, ENSP000003562344I2D: score=1 STRING: ENSP00000356234
    About this table

    (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 CECR6



    (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 CECR6 gene (2 alternative transcripts): 
    NM_001163079.1  NM_031890.3  

    Unigene Cluster for CECR6:

    Cat eye syndrome chromosome region, candidate 6
    Hs.209577  [show with all ESTs]
    Unigene Representative Sequence: NM_031890
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399875(uc002zma.2) ENST00000331437(uc002zmb.2)
    miRNA
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    hsa-miR-3194-5p hsa-miR-3146 hsa-miR-15a hsa-miR-30d hsa-miR-3138 hsa-miR-3916 hsa-miR-4267 hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiFast Probe-based Assays in human, mouse, rat CECR6

    Additional mRNA sequence: 

    AF307451.1 AK055398.1 AK095437.1 AK095609.1 

    2 DOTS entries:

    DT.412498  DT.99999920 

    Selected AceView cDNA sequences (see all 45):

    BQ006940 BP345541 AA780488 NM_031890 BP345568 BE702731 AF307451 AK055398 
    BX503272 BV178232 BQ108580 AI797620 AA774312 AI149772 BQ437215 AK095437 
    AA351677 AI088824 AK095609 BX090518 AA010607 BE206767 BE670568 T08365 

    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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    CECR6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTGATTCT
    CECR6 Expression
    About this image

    CECR6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CECR6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.209577

    UniProtKB/Swiss-Prot: CECR6_HUMAN, Q9BXQ6
    Tissue specificity: Widely expressed, especially in adult heart, brain, prostate, testes, peripherical blood
    leukocytes and fetal brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR6

    (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 chordates.

    Orthologs for CECR6 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cecr61 , 5 cat eye syndrome chromosome region, candidate 6 homolog more5
    cat eye syndrome chromosome region, candidate 61
    86.01(n)1
    89.64(a)1
      6 (56.95 cM)5
    940471  NM_033567.11  NP_291045.11 
     1204889395 
    chicken
    (Gallus gallus)
    Aves CECR61 cat eye syndrome chromosome region, candidate 6 74.66(n)
    66.53(a)
      772223  XM_004938045.1  XP_004938102.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cecr61 cat eye syndrome chromosome region, candidate 6 60.61(n)
    59.42(a)
      100487731  XM_004912490.1  XP_004912547.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7961131 cat eye syndrome critical region protein 6-like 58.2(n)
    51.13(a)
      796113  XM_005164674.1  XP_005164731.1 


    ENSEMBL Gene Tree for CECR6 (if available)
    TreeFam Gene Tree for CECR6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 CECR6 (see all 60)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs559771271,2
    C--17597060(+) GAAGGAAAGG/
            
    GCCAA
    1 -- int11Minor allele frequency- -:0.00NA 2
    rs111601,2
    C,F,A,H--17597297(-) TAGAGC/TCTGGA 2 -- ut3129Minor allele frequency- T:0.21NA EA MN NS WA 3192
    rs1505454801,2
    C--17597324(+) CTTTCA/GCAAAA 2 -- ut310--------
    rs1394517301,2
    C--17597411(+) GATTTG/TGGGAC 2 -- ut310--------
    rs1904032261,2
    --17597419(+) GACTAA/TCAGAG 2 -- ut310--------
    rs9717681,2
    C,F,A,H--17597462(+) CAGGCG/AGTTCT 2 -- ut3125Minor allele frequency- A:0.24EA MN NS NA 4254
    rs794033911,2
    C,F--17597501(+) GTGAAC/TCATGC 2 -- ut311Minor allele frequency- T:0.03NA 120
    rs96066181,2
    C,F--17597561(+) TCCACG/AGAGAA 2 -- ut311Minor allele frequency- A:0.00NA 2
    rs1138605401,2
    C,F--17597585(+) CCCTTC/TACTAG 2 -- ut312Minor allele frequency- T:0.04CSA WA 120
    rs96052171,2
    C,F--17597713(+) ACACAG/CTGGTT 2 -- ut318Minor allele frequency- C:0.27NA WA EA 368

    HapMap Linkage Disequilibrium report for CECR6 (17597189 - 17602257 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CECR6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509805CNV Insertion20534489
    nsv828923CNV Gain20364138
    nsv828924CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CECR6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for CECR6:    
    About MalaCards
    cat eye syndrome


    Find genes that share disorders with CECR6           About GenesLikeMe

    Genetic Association Database (GAD): CECR6
    Human Genome Epidemiology (HuGE) Navigator: CECR6 (1 document)

    Export disorders for CECR6 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)
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    PubMed articles for CECR6 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CECR6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. (PubMed id 11381032)1, 2, 3 Footz T.K....McDermid H.E. (Genome Res. 2001)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
    4. The PcG protein hPc2 interacts with the N-terminus of histone demethylase JARID1B and acts as a transcriptional co-repressor. (PubMed id 19336002)1 Zhou W....Zhang L. (BMB Rep 2009)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    7. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 27439 HGNC: 1844 AceView: CECR6 Ensembl:ENSG00000183307 euGenes: HUgn27439
    ECgene: CECR6 H-InvDB: CECR6

    (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)
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    NameDescription
    PharmGKB entry for CECR6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CECR6 gene:
    Search GeneIP for patents involving CECR6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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