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

CECR6 Gene

protein-coding   GIFtS: 40
GCID: GC22M017597

Cat Eye Syndrome Chromosome Region, Candidate 6

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CECR6 Gene: 
CECR6 (cat eye syndrome chromosome region, candidate 6) is a protein-coding gene. Diseases associated with CECR6 include 22q11.2 duplication, and coloboma of iris.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011519.10  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CECR6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXQ6

  • CECR6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CECR6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001156551.1  NP_114096.1  

    ENSEMBL proteins: 
     ENSP00000382764   ENSP00000329318  

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

    Graphical View of Domain Structure for InterPro Entry Q9BXQ6

    ProtoNet protein and cluster: Q9BXQ6


    CECR6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CECR6 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CECR6

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CECR6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CECR6
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): CECR6 (NM_031890)
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    Sirion Biotech Customized lentivirus for stable overexpression of CECR6 
                         Customized lentivirus expression plasmids for stable overexpression of CECR6 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CECR6
      QIAGEN 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 

    24/45 AceView cDNA sequences (see all 45):

    BP345568 AK055398 NM_031890 AF307451 BQ006940 BE702731 BP345541 AA780488 
    AA010607 BV178232 AI355909 BE206767 AA351677 T08365 AK095609 AA774312 
    BE670568 BQ437215 BX090518 AK095437 AI149772 AI797620 BX503272 AI088824 

    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™, 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

    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


    See CECR6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CECR6

    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

        SABiosciences Custom PCR Arrays for CECR6
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CECR6 gene from 3/8 species (see all 8)    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
    86.58(n)1
    88.22(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 73.81(n)
    66.07(a)
      772223  XM_003640419.1  XP_003640467.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7961131 cat eye syndrome critical region protein 6 homolog 60.07(n)
    55.45(a)
      796113  XM_001336384.1  XP_001336420.1 


    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)
    About This Section
      --

    (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) 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

    10/60 SNPs in CECR6 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    6 diseases for CECR6:    About MalaCards
    22q11.2 duplication    coloboma of iris    coloboma    hepatitis b
    hepatitis    prostatitis


    CECR6 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CECR6 gene integrated from 9 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. (2001)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (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. (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. (2006)
    6. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    7. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I....O'Brien K.P. (1999)

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

    (According to HUGE)
    About This Section
      --

    (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 CECR6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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