Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CECR2 Gene

protein-coding   GIFtS: 50
GCID: GC22P017840

Cat Eye Syndrome Chromosome Region, Candidate 2

  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

TryGeneCards Plus

Aliases
Cat Eye Syndrome Chromosome Region, Candidate 21 2
KIAA17403 5
Cat Eye Syndrome Critical Region Protein 22

External Ids:    HGNC: 18401   Entrez Gene: 274432   Ensembl: ENSG000000999547   OMIM: 6075765   UniProtKB: Q9BXF33   

Export aliases for CECR2 gene to outside databases

Previous GC identifers: GC22P014900 GC22P016331 GC22P016328 GC22U900292 GC22P001668


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

TryGeneCards Plus

Entrez Gene summary for CECR2 Gene:
This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally
play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is
involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Feb 2014)

GeneCards Summary for CECR2 Gene:
CECR2 (cat eye syndrome chromosome region, candidate 2) is a protein-coding gene. Diseases associated with CECR2 include 22q11.2 duplication, and coloboma of iris. An important paralog of this gene is BAZ1A.

UniProtKB/Swiss-Prot: CECR2_HUMAN, Q9BXF3
Function: Part of the CERF (CECR2-containing-remodeling factor) complex, which facilitates the perturbation of
chromatin structure in an ATP-dependent manner. May be involved through its interaction with LRPPRC in the
integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription,
chromosome remodeling and cytokinesis




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000022.11  NT_187355.1  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CECR2 gene promoter:
         p300   ATF-2   HNF-1A   Meis-1b   PPAR-alpha   PPAR-gamma1   HNF-1   Meis-1a   PPAR-gamma2   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CECR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CECR2


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

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

CECR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CECR2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P017840:  view genomic region     (about GC identifiers)

Start:
17,840,837 bp from pter      End:
18,037,850 bp from pter
Size:
197,014 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CECR2_HUMAN, Q9BXF3 (See protein sequence)
Recommended Name: Cat eye syndrome critical region protein 2  
Size: 1484 amino acids; 164213 Da
Subunit: Part of the CECR2-containing remodeling factor (CERF) complex which contains CECR2 and SMARCA1. Interacts
with acetylated lysine residues on histone H2A and H3 (in vitro). Interacts with LRPPRC
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
Sequence caution: Sequence=CAH56122.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAH56212.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW57756.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for CECR2:
3NXB (3D)    
Secondary accessions: A8MS90 A8MX16 Q658Z4 Q96P58 Q9C0C3
Alternative splicing: 3 isoforms:  Q9BXF3-1   Q9BXF3-2   Q9BXF3-3   

Explore the universe of human proteins at neXtProt for CECR2: NX_Q9BXF3

Explore proteomics data for CECR2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CECR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001276975.1  NP_001276976.1  NP_113601.2  

    ENSEMBL proteins: 
     ENSP00000383428   ENSP00000383417   ENSP00000347357   ENSP00000262608   ENSP00000341219  

    CECR2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CECR2
    GenScript Custom Purified and Recombinant Proteins Services for CECR2
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CECR2

    CECR2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CECR2
    Novus Biologicals CECR2 Antibody
    Abcam antibodies for CECR2
    Cloud-Clone Corp. Antibodies for CECR2
    Search ThermoFisher Antibodies for CECR2
    LSBio Antibodies in human, mouse, rat for CECR2

    CECR2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CECR2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CECR2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CECR2
    Cloud-Clone Corp. CLIAs for CECR2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain

    Graphical View of Domain Structure for InterPro Entry Q9BXF3

    ProtoNet protein and cluster: Q9BXF3

    1 Blocks protein domain: IPB001487 Bromodomain signature

    UniProtKB/Swiss-Prot: CECR2_HUMAN, Q9BXF3
    Similarity: Contains 1 bromo domain


    CECR2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CECR2_HUMAN, Q9BXF3
    Function: Part of the CERF (CECR2-containing-remodeling factor) complex, which facilitates the perturbation of
    chromatin structure in an ATP-dependent manner. May be involved through its interaction with LRPPRC in the
    integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription,
    chromosome remodeling and cytokinesis

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12762840
         
    CECR2 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cecr2):
     craniofacial  embryogenesis  hearing/vestibular/ear  mortality/aging  nervous system 
     vision/eye 

    CECR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cecr2tm1.1Hemc for CECR2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CECR2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CECR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CECR2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CECR2

    miRNA
    Products:
        
    miRTarBase miRNAs that target CECR2:
    hsa-mir-151a-3p (MIRT043615), hsa-mir-29b-3p (MIRT048371), hsa-mir-1296-5p (MIRT036153), hsa-mir-484 (MIRT041997)

    Block miRNA regulation of human, mouse, rat CECR2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CECR2 (see all 67):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-4272 hsa-miR-219-5p hsa-miR-30d hsa-miR-4267 hsa-miR-30a hsa-miR-508-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CECR2
    Predesigned siRNA for gene silencing in human, mouse, rat CECR2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CECR2

    Clone
    Products:
         
    OriGene clones in human, mouse for CECR2 (see all 6)
    OriGene ORF clones in mouse, rat for CECR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CECR2 (NM_031413)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CECR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CECR2
    Browse ESI BIO Cell Lines and PureStem Progenitors for CECR2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12762840
    GO:0005719nuclear euchromatin IEA--
    GO:0031010ISWI-type complex ----
    GO:0090537CERF complex IDA15640247

    CECR2 for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CECR2
    Interactions:

        GeneGlobe Interaction Network for CECR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CECR2 (Q9BXF33 ENSP000002626084) via UniProtKB, MINT, STRING, and/or I2D (see all 94)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRPPRCP427043, ENSP000002606654I2D: score=2 STRING: ENSP00000260665
    UXTQ9UBK93, ENSP000003373934I2D: score=1 STRING: ENSP00000337393
    SMARCA5ENSP000002831314STRING: ENSP00000283131
    ELP3ENSP000002563984STRING: ENSP00000256398
    DR1ENSP000003592904STRING: ENSP00000359290
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis NAS11827465
    GO:0001842neural fold formation IEA--
    GO:0001843neural tube closure IEA--
    GO:0006309apoptotic DNA fragmentation TAS12762840
    GO:0007010cytoskeleton organization NAS11827465

    CECR2 for ontologies           About GeneDecksing



    (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)
    About This Section

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

    Browse Tocris compounds for CECR2



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CECR2 gene (3 alternative transcripts): 
    NM_001290046.1  NM_001290047.1  NM_031413.4  

    Unigene Cluster for CECR2:

    Cat eye syndrome chromosome region, candidate 2
    Hs.658723  [show with all ESTs]
    Unigene Representative Sequence: NM_031413
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400585 ENST00000497534 ENST00000400573 ENST00000355219 ENST00000262608(uc010gqv.1 uc010gqw.1 uc002zml.2 uc002zmo.2)
    ENST00000342247(uc002zmm.1 uc002zmn.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CECR2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CECR2 (see all 67):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-4272 hsa-miR-219-5p hsa-miR-30d hsa-miR-4267 hsa-miR-30a hsa-miR-508-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CECR2
    Predesigned siRNA for gene silencing in human, mouse, rat CECR2
    Clone
    Products:
         
    OriGene clones in human, mouse for CECR2 (see all 6)
    OriGene ORF clones in mouse, rat for CECR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CECR2 (NM_031413)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CECR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CECR2
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CECR2
      QuantiTect SYBR Green Assays in human, mouse, rat CECR2
      QuantiFast Probe-based Assays in human, mouse, rat CECR2

    Additional mRNA sequence: 

    AB051527.1 AF411609.1 AK091754.1 AK308330.1 AL832377.1 BX647449.1 

    6 DOTS entries:

    DT.99950613  DT.102667  DT.97762450  DT.100018803  DT.95323559  DT.102827713 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CECR2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
    SP1:                                                                          -                                   -                     
    SP2:                                      -                                                                                             
    SP3:                                                                                                                                    


    ECgene alternative splicing isoforms for CECR2

    (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)
    About This Section

    TryGeneCards Plus

    CECR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CECR2 Expression
    About this image


    CECR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    CECR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CECR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.658723

    UniProtKB/Swiss-Prot: CECR2_HUMAN, Q9BXF3
    Tissue specificity: Highly expressed in skeletal muscle, thymus, placenta and lung. Expressed at lower level in
    brain, heart, colon, spleen, kidney

        Custom PCR Arrays for CECR2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CECR2
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CECR2
    QuantiTect SYBR Green Assays in human, mouse, rat CECR2
    QuantiFast Probe-based Assays in human, mouse, rat CECR2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR2

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CECR2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cecr21 , 5 cat eye syndrome chromosome region, candidate 2 homolog more5
    cat eye syndrome chromosome region, candidate 21
    83.06(n)1
    82.01(a)1
      6 (56.97 cM)5
    3304091  NM_001128151.11  NP_001121623.11 
     1206663695 
    chicken
    (Gallus gallus)
    Aves CECR21 cat eye syndrome chromosome region, candidate 2 72.76(n)
    72.78(a)
      418161  NM_001130739.1  NP_001124211.1 
    lizard
    (Anolis carolinensis)
    Reptilia CECR26
    cat eye syndrome chromosome region, candidate 2
    62(a)
    1 ↔ 1
    5(13878172-13984624)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cecr21 cat eye syndrome chromosome region, candidate 2 56.75(n)
    49.88(a)
      100486642  XM_002938093.2  XP_002938139.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CECR26
    cat eye syndrome chromosome region, candidate 2
    31(a)
    1 ↔ 1
    25(17003169-17045697) ENSDARG00000078310
    fruit fly
    (Drosophila melanogaster)
    Insecta dikar6
    dikar
    9(a)
    1 ↔ 1
    3L(6721900-6736264)


    ENSEMBL Gene Tree for CECR2 (if available)
    TreeFam Gene Tree for CECR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CECR2 gene
    BAZ1A2  BPTF2  BAZ2B2  BAZ2A2  BAZ1B2  KAT2A2  KAT2B2  
    3 SIMAP similar genes for CECR2 using alignment to 6 protein entries:     CECR2_HUMAN (see all proteins):
    AURA2    BRD4    BRDT

    CECR2 for paralogs           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CECR2 (see all 4729)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1821999951,2
    --1666624(+) TCGGCC/TTCCCA 1 -- us2k10--------
    rs2001418831,2
    C--1666651(+) GGCGT-/AAGCCA 1 -- us2k10--------
    rs733917511,2
    C--1666748(+) ACCTCG/CTTCAG 1 -- us2k14Minor allele frequency- C:0.09WA NA EA 360
    rs1117428371,2
    C,F--1666759(+) GTTACG/ATGACA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1868066521,2
    --1666767(+) ACAATG/TCCGGG 1 -- us2k10--------
    rs1506466791,2
    --1666772(+) TCCGGG/TGTGGC 1 -- us2k10--------
    rs1396672591,2
    C--1666945(+) TAAATC/TATCAA 1 -- us2k10--------
    rs1419647441,2
    --1666966(+) GGAATC/GAAAGA 1 -- us2k10--------
    rs1463905271,2
    --1667020(+) GGGGCA/GGAGGA 1 -- us2k10--------
    rs1173999341,2
    C,F--1667024(+) CGGAGG/AAGACC 1 -- us2k11Minor allele frequency- A:0.02NA 120

    HapMap Linkage Disequilibrium report for CECR2 (17840837 - 18037850 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CECR2 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663280CNV Deletion23128226
    esv2667610CNV Deletion23128226
    nsv820372CNV Deletion20802225
    nsv9871CNV Loss18304495
    nsv438324CNV Loss16468122
    nsv3553CNV Loss18451855
    nsv914150CNV Loss21882294
    nsv512644CNV Loss21212237
    nsv834118CNV Loss17160897
    nsv510802CNV Loss20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CECR2
    DNA2.0 Custom Variant and Variant Library Synthesis for CECR2

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 607576    OMIM disorders: --

    10 diseases for CECR2:    
    About MalaCards
    22q11.2 duplication    coloboma of iris    cat eye syndrome    coloboma
    digeorge syndrome    spina bifida    tonsillitis    thyroiditis
    cerebritis    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for CECR2:
    Coloboma     Velocardiofacial syndrome

    CECR2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CECR2
    Human Genome Epidemiology (HuGE) Navigator: CECR2 (1 document)

    Export disorders for CECR2 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

    TryGeneCards Plus

    PubMed articles for CECR2 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with CECR2)
        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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. (PubMed id 15640247)1, 2 Banting G.S.... Shiekhattar R. (Hum. Mol. Genet. 2005)
    4. Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity. (PubMed id 11827465)1, 2 Liu L. and McKeehan W.L. (Genomics 2002)
    5. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    6. A 600a88kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. (PubMed id 22395867)1 Knijnenburg J....van Zutven L.J. (Eur. J. Hum. Genet. 2012)
    7. Genome-wide screen of human bromodomain-containing proteins identifies Cecr2 as a novel DNA damage response protein. (PubMed id 22699752)1 Lee S.K....Kwon J. (Mol. Cells 2012)
    8. CECR2 is involved in spermatogenesis and forms a complex with SNF2H in the testis. (PubMed id 22154806)1 Thompson P.J....McDermid H.E. (J. Mol. Biol. 2012)
    9. Histone recognition and large-scale structural analysis of the human bromodomain family. (PubMed id 22464331)2 Filippakopoulos P.... Knapp S. (Cell 2012)
    10. Functional genomics identifies therapeutic targets for MYC-driven cancer. (PubMed id 22623531)1 Toyoshima M....Grandori C. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 27443 HGNC: 1840 Ensembl:ENSG00000099954 euGenes: HUgn27443 ECgene: CECR2
    H-InvDB: CECR2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1740

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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CECR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CECR2 gene:
    Search GeneIP for patents involving CECR2

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CECR2  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CECR2  
     OriGene qSTAR qPCR primer pairs in human, mouse for CECR2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CECR2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CECR2   OriGene Custom Protein Services for CECR2  

     
     
     Block miRNA regulation of human, mouse, rat CECR2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CECR2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CECR2 Predesigned siRNA for gene silencing in human, mouse, rat CECR2
     QuantiFast Probe-based Assays in human, mouse, rat CECR2 QuantiTect SYBR Green Assays in human, mouse, rat CECR2
     Custom PCR Arrays for CECR2 Search Chromatin IP Primers for CECR2
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CECR2  GeneGlobe Interaction Network for CECR2
     Regulatory tfbs in CECR2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CECR2 GenScript cDNA clones with any tag delivered in your preferred vector for CECR2
     GenScript Custom Assay Services for CECR2 GenScript Custom overexpressing Cell Line Services for CECR2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CECR2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CECR2 antibodies
     Antibodies for CECR2
     See all of Abcam's Antibodies, Kits and Proteins for CECR2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CECR2
     Antibodies for CECR2
     ELISAs for CECR2
     CLIAs for CECR2



     Browse ESI BIO Cell Lines and PureStem Progenitors for CECR2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for CECR2
     Browse SwitchGear Promoter luciferase reporter plasmids for CECR2
     Search ThermoFisher Antibodies for CECR2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CECR2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CECR2
     LSBio Antibodies in human, mouse, rat for CECR2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CECR2 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4