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

CECR5 Gene

protein-coding   GIFtS: 51
GCID: GC22M017618

Cat Eye Syndrome Chromosome Region, Candidate 5

  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 51 2
Cat Eye Syndrome Critical Region Protein 52

External Ids:    HGNC: 18431   Entrez Gene: 274402   Ensembl: ENSG000000699987   UniProtKB: Q9BXW73   

Export aliases for CECR5 gene to outside databases

Previous GC identifers: GC22M014562 GC22M015992 GC22M001437


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

GeneCards Summary for CECR5 Gene: 
CECR5 (cat eye syndrome chromosome region, candidate 5) is a protein-coding gene. Diseases associated with CECR5 include 22q11.2 duplication, and coloboma of iris. GO annotations related to this gene include hydrolase activity.


(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  NT_011519.10  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CECR5 gene promoter:
         PPAR-alpha   MEF-2A   MEF-2   CP1C   aMEF-2   CUTL1   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CECR5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CECR5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CECR5


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

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

CECR5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CECR5 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M017618:  view genomic region     (about GC identifiers)

Start:
17,618,401 bp from pter      End:
17,646,177 bp from pter
Size:
27,777 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: CECR5_HUMAN, Q9BXW7 (See protein sequence)
Recommended Name: Cat eye syndrome critical region protein 5 precursor  
Size: 423 amino acids; 46321 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: B2RCK5 Q9BXW8 Q9NWA8 Q9NX41
Alternative splicing: 2 isoforms:  Q9BXW7-1   Q9BXW7-2   

Explore the universe of human proteins at neXtProt for CECR5: NX_Q9BXW7

Explore proteomics data for CECR5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXW7

  • CECR5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CECR5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_060299.4  NP_149061.1  

    ENSEMBL proteins: 
     ENSP00000155674   ENSP00000337358   ENSP00000382745  

    Human Recombinant Protein Products for CECR5: 
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    Novus Biologicals CECR5 Protein
    Novus Biologicals CECR5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CECR5 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    CECR5 for ontologies           About GeneDecksing



    CECR5 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for CECR5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR006353 HAD-SF_hydro_IIA_CECR5
     IPR023214 HAD-like_dom
     IPR006357 HAD-SF_hydro_IIA

    Graphical View of Domain Structure for InterPro Entry Q9BXW7

    ProtoNet protein and cluster: Q9BXW7


    CECR5 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity ----
         
    CECR5 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CECR5:
     Decreased homologous recombina  Decreased viability of wild-ty  Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CECR5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CECR5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CECR5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CECR5 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CECR5
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CECR5:
    hsa-miR-544b hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidCECR5 3' UTR sequence
    Inhib. RNA
    Products:
        
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                         Customized lentivirus expression plasmids for stable overexpression of CECR5 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR5


    (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 CECR5

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/253 Interacting proteins for CECR5 (Q9BXW72, 3 ENSP000003373584) via UniProtKB, MINT, STRING, and/or I2D (see all 253)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SHBGP042783, ENSP000003698164I2D: score=2 STRING: ENSP00000369816
    PSMA4P257893I2D: score=3 
    PSMA6P609003I2D: score=3 
    CLN3Q132863I2D: score=1 
    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 CECR5

    Search CenterWatch for drugs/clinical trials and news about CECR5

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 CECR5 gene (2 alternative transcripts): 
    NM_017829.5  NM_033070.2  

    Unigene Cluster for CECR5:

    Cat eye syndrome chromosome region, candidate 5
    Hs.26890  [show with all ESTs]
    Unigene Representative Sequence: BF569103
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000155674(uc002zmh.3) ENST00000336737(uc002zmf.3) ENST00000477157
    ENST00000399852 ENST00000486462 ENST00000463033 ENST00000480451
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CECR5
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CECR5:
    hsa-miR-544b hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidCECR5 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CECR5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CECR5
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    OriGene clones in human, mouse for CECR5 (see all 11)
    OriGene ORF clones in mouse, rat for CECR5
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    GenScript: all cDNA clones in your preferred vector (see all 2): CECR5 (NM_017829)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CECR5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR5
    Sirion Biotech Customized lentivirus for stable overexpression of CECR5 
                         Customized lentivirus expression plasmids for stable overexpression of CECR5 
    Primer
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    OriGene qPCR primer pairs and template standards for CECR5
    OriGene qSTAR qPCR primer pairs in human, mouse for CECR5
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CECR5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CECR5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CECR5

    Additional mRNA sequence: 

    AF273270.1 AF273271.1 AK000461.1 AK001034.1 AK315156.1 BC042540.1 

    24 DOTS entries:

    DT.112927  DT.100852681  DT.100771259  DT.120669515  DT.100720235  DT.97847546  DT.95227384  DT.92431464 
    DT.100658701  DT.100852677  DT.120669521  DT.120669531  DT.121643286  DT.100852674  DT.100674404  DT.100806598 
    DT.100852676  DT.120669536  DT.120669580  DT.120669596  DT.121643287  DT.92024715  DT.95250294  DT.92411078 

    24/303 AceView cDNA sequences (see all 303):

    AK123646 BM475124 BF001237 BM803116 BG575171 NM_033070 NM_017829 BE645563 
    BF971524 CR616678 CR612464 AI540131 BF515203 AI391516 BM906340 BX354233 
    AF273270 AK000461 BU584141 BF805201 BM471006 CR600657 CR601915 CR596430 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CECR5 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
    SP1:                                                        -     -     -                             -               
    SP2:                          -           -                 -     -     -                                             
    SP3:                          -           -                 -     -                                                   
    SP4:                          -           -                 -                                                         
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for CECR5

    (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

    CECR5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCCTGTCG
    CECR5 Expression
    About this image


    See CECR5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CECR5

    SOURCE GeneReport for Unigene cluster: Hs.26890

    UniProtKB/Swiss-Prot: CECR5_HUMAN, Q9BXW7
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for CECR5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR5

    (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 eukaryotes.

    Orthologs for CECR5 gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cecr51 , 5 cat eye syndrome chromosome region, candidate 5 homolog (human) less5
    cat eye syndrome chromosome region, candidate 51
    79.79(n)1
    76.61(a)1
      6 (56.95 cM)5
    2149321  NM_144815.21  NP_659064.11 
     1205094945 
    chicken
    (Gallus gallus)
    Aves CECR51 cat eye syndrome chromosome region, candidate 5 67.08(n)
    65.19(a)
      418159  XM_416390.3  XP_416390.2 
    lizard
    (Anolis carolinensis)
    Reptilia CECR56
    cat eye syndrome chromosome region, candidate 5
    56(a)
    1 ↔ 1
    5(13781528-13797791)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA973276.12   -- 73.97(n)    CA973276.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CECR56
    cat eye syndrome chromosome region, candidate 5
    49(a)
    1 ↔ 1
    25(3679700-3696036)
    worm
    (Caenorhabditis elegans)
    Secernentea H32C10.11 , 3 Protein H32C10.11 40(a)3
    50.11(n)1
    44.9(a)1
      IV(5934054-5937633)3
    1867961  NM_068490.21  NP_500891.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YKR070W)4
    YKR070W1
    Putative protein of unknown function; the authentic, non-tagged protein is detected in highly purified mitochondria in high-throughput studies less4
    hypothetical protein1
    42.2(n)1
    32.96(a)1
      11(573574-574632)4
    8539441, 4  NP_012996.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G457401 haloacid dehalogenase-like hydrolase-like protein 41.2(n)
    32.29(a)
      823716  NM_114443.2  NP_190160.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g02845001 hypothetical protein 44.08(n)
    34.85(a)
      4332467  NM_001056297.1  NP_001049762.1 


    ENSEMBL Gene Tree for CECR5 (if available)
    TreeFam Gene Tree for CECR5 (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

    10/623 SNPs in CECR5 are shown (see all 623)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1831484451,2
    --17617955(+) GAGGCA/TTCAGC 2 -- ds50010--------
    rs1488548771,2
    C--17617999(+) GAGGAC/TGAGAA 2 -- ds50010--------
    rs1155004711,2
    C,F--17618018(+) GGGATT/CTGCAG 2 -- ds50011Minor allele frequency- C:0.09WA 118
    rs1434254281,2
    --17618075(+) TTACTC/TCTAGA 2 -- ds50010--------
    rs57488921,2
    C--17618127(+) AGGAAG/TAGCTG 2 -- ds50013Minor allele frequency- T:0.05NA WA EA 240
    rs57488931,2
    C,F--17618128(+) GGAAGA/TGCTGC 2 -- ds50012Minor allele frequency- T:0.04WA EA 238
    rs59941751,2
    C,F,A,H--17618142(+) CTTTAG/TAACAA 2 -- ds500123Minor allele frequency- T:0.36NS EA NA WA CSA 2765
    rs59941761,2
    C,F,A,H--17618164(+) GATCCC/GTCTTC 2 -- ds500131Minor allele frequency- G:0.32NS EA NA WA CSA 3399
    rs1867536051,2
    --17618236(+) GCCTCA/GGGCTT 2 -- ds50010--------
    rs1926713571,2
    --17618446(+) TATTTA/TAAAAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CECR5 (17618401 - 17646177 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CECR5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1006805CNV Deletion20482838
    esv1195567CNV Deletion17803354
    nsv509805CNV Insertion20534489
    nsv526946CNV Loss19592680
    nsv828924CNV Gain20364138
    esv29321CNV Gain19812545


    Human Gene Mutation Database (HGMD): CECR5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CECR5
    DNA2.0 Custom Variant and Variant Library Synthesis for CECR5

    (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
    3 diseases for CECR5:    About MalaCards
    22q11.2 duplication    coloboma of iris    coloboma


    CECR5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CECR5
    Human Genome Epidemiology (HuGE) Navigator: CECR5 (1 document)

    Export disorders for CECR5 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 CECR5 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with CECR5)
        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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
    9. Quantitative nanoproteomics for protein complexes (QNa noPX) related to estrogen transcriptional action. (PubMed id 19805454)1 Cheng P.C....Chen S.H. (2010)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27440 HGNC: 1843 AceView: CECR5 Ensembl:ENSG00000069998 euGenes: HUgn27440
    ECgene: CECR5 H-InvDB: CECR5

    (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 CECR5 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 CECR5 gene:
    Search GeneIP for patents involving CECR5

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



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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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