Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

CECR5 Gene

protein-coding   GIFtS: 49
GCID: GC22M017618

cat eye syndrome chromosome region, candidate 5
 Explore 4 diseases affiliated with
CECR5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CECR5    

Aliases
for CECR5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for CECR5 gene

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

Genomic Views
for CECR5 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011519.10  
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

Proteins
for CECR5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BXW7

    • CECR5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000155674   ENSP00000337358   ENSP00000382745  

    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
    OriGene Purified Protein: CECR5
    OriGene Protein Over-expression Lysate: CECR5
    OriGene Custom Protein Services for CECR5 
    GenScript Custom Purified and Recombinant Proteins Services for CECR5
    Novus Biologicals CECR5 Protein
    Novus Biologicals CECR5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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: 
    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 CECR5 
    GenScript Custom Superior Antibodies Services for CECR5
    Novus Biologicals CECR5 Antibody
    Search for Antibodies for CECR5 at Abcam  
    Uscn Antibodies for CECR5
    Search ThermoFisher Antibodies for CECR5

    Assay Products for CECR5: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CECR5
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CECR5

    Protein Domains /
    Families
    for CECR5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CECR5 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    Function
    for CECR5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): CECR5
    Browse MicroRNA Expression Plasmids
    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 plasmid: CECR5 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CECR5 (see all 7)
    OriGene shRNA RFP: CECR5
    OriGene siRNA: CECR5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CECR5

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CECR5

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CECR5 (NM_017829)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CECR5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR5 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for CECR5
    Search LifeMap BioReagents cell lines for CECR5

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity IEA--


    CECR5 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for CECR5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        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)

    5/239 Interacting proteins for CECR5 (Q9BXW72, 3 ENSP000003373584) via UniProtKB, MINT, STRING, and/or I2D (see all 239)
    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

    Drugs & Compounds
    for CECR5 gene

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

    Transcripts
    for CECR5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    Products:             		 OriGene 3'-UTR Clone (see all 2): CECR5
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: CECR5 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CECR5 (see all 7)
    OriGene shRNA RFP: CECR5
    OriGene siRNA: CECR5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CECR5
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CECR5
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    AI498215 BG575171 AI365586 BC042540 BF515203 CR622021 BF001237 CR622420 
    BM471006 CR596430 CR608179 CA425852 NM_017829 CB049115 BM824091 CR606299 
    BM906340 BU584141 BM701492 BF805201 BU726516 AI540131 AI391516 AA317500 

    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

    Expression
    for CECR5 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CECR5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGCCTGTCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CECR5
    Browse OriGene validated miRNA SYBR primer pairs
    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
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR5

    Orthologs
    for CECR5 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CECR5 gene from 10/26 species (see all 26)    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
    		 --
    		 60(a)
    		 1 ↔ 1
    		 5(13784342-13797408)
    African clawed frog
    (Xenopus laevis)    		 Amphibia CA973276.12   -- 73.97(n)    CA973276.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1751546
    		 zgc:175154
    		 50(a)
    		 1 ↔ 1
    		 25(3679700-3696036)
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 44(a)
    		 1 ↔ 1
    		 Group1.48(48020-50051)
    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
    for CECR5 gene

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

    Genomic Variants
    for CECR5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/666 NCBI SNPs in CECR5 are shown (see all 666)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1747801,2
    		C,A--1446351(+) CACACG/ATCATC 1 -- int11Minor allele frequency- A:0.00NA 2
    rs1831484451,2
    		--17617955(+) GAGGCA/TTCAGC 2 -- ds50010--------
    rs1488548771,2
    		--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--------

    HapMap Linkage Disequilibrium report for CECR5 (17618401 - 17646177 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CECR5
         1 CNV: 73694
         1 Indel: 27013
    Human Gene Mutation Database (HGMD): CECR5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CECR5
    DNA2.0 Custom Variant and Variant Library Synthesis for CECR5

    Disorders / Diseases
    for CECR5 gene

    (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
    CECR5 for disorders           About GeneDecksing

    4 diseases for CECR5:    About MalaCards
    cat eye syndrome    coloboma of iris    coloboma    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: CECR5 (1 document)

    Export disorders for CECR5 gene to outside databases

    Publications
    for CECR5 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CECR5 gene, integrated from 9 sources (see all 11):
    (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. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. 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)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    10. Yeast two-hybrid identification of prostatic proteins interacting with human sex hormone-binding globulin. (PubMed id 15862967)1 Pope S.N. and Lee I.R. (2005)

    External Searches for CECR5 gene

    (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)

    Genome Databases showing CECR5 gene

    (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

    Other Databases showing CECR5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CECR5 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CECR5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CECR5 gene

    (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



    Products
    for CECR5 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for CECR5  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CECR5   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CECR5  
     OriGene Protein Over-expression Lysate for CECR5   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CECR5   OriGene 3'-UTR Clone for CECR5  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CECR5  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for CECR5   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CECR5   OriGene Custom Protein Services for CECR5  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CECR5
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CECR5
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CECR5
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CECR5
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CECR5
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CECR5
     GenScript Custom Purified and Recombinant Proteins Services for CECR5 GenScript cDNA clones with any tag delivered in your preferred vector for CECR5
     GenScript Custom Assay Services for CECR5 GenScript Custom Superior Antibodies Services for CECR5
     GenScript Custom overexpressing Cell Line Services for CECR5 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

     Regulatory tfbs in CECR5 promoter
     Search Chromatin IP Primers for CECR5
     RT2 qPCR Primer Assay in human, mouse, rat CECR5
     Search GNC Networks for CECR5
     SABiosciences Custom PCR Arrays for CECR5
     Search Tocris compounds for CECR5
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CECR5 antibodies
     CECR5 proteins
     CECR5 lysates
     Search for Antibodies for CECR5 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for CECR5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     CECR5 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for CECR5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR5
     SwitchGear 3'UTR luciferase reporter plasmids for CECR5
     SwitchGear Promoter luciferase reporter plasmids for CECR5
     Search ThermoFisher Antibodies for CECR5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR5
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      CECR5 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4