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CECR1 Gene

protein-coding   GIFtS: 57
GCID: GC22M017660

Cat Eye Syndrome Chromosome Region, Candidate 1


(Previous symbol: IDGFL)
  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)
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Aliases
Cat Eye Syndrome Chromosome Region, Candidate 11 2     Adenosine Deaminase 22
IDGFL1 2 3     Adenosine Deaminase CECR12
Cat Eye Syndrome Critical Region Protein 12 3     EC 3.5.4.43
ADA22 3     PAN5
ADGF2 3     

External Ids:    HGNC: 18391   Entrez Gene: 518162   Ensembl: ENSG000000930727   OMIM: 6075755   UniProtKB: Q9NZK53   

Export aliases for CECR1 gene to outside databases

Previous GC identifers: GC22M014604 GC22M016034 GC22M001478


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CECR1 Gene:
This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of
two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded
protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and
differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye
syndrome. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2013)

GeneCards Summary for CECR1 Gene:
CECR1 (cat eye syndrome chromosome region, candidate 1) is a protein-coding gene. Diseases associated with CECR1 include pediatric polyarteritis nodosa, and congenital toxoplasmosis. GO annotations related to this gene include heparin binding and protein homodimerization activity.

UniProtKB/Swiss-Prot: CECR1_HUMAN, Q9NZK5
Function: Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling
molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme
activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation
and differentiation, independently of its enzyme activity

Gene Wiki entry for CECR1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_187355.1  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CECR1 gene promoter:
         c-Fos   AP-1   HSF1 (long)   HNF-4alpha2   AP-4   CUTL1   FAC1   c-Myb   HSF1short   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CECR1 promoter sequence
   Search Chromatin IP Primers for CECR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CECR1


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

CECR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CECR1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M017660:  view genomic region     (about GC identifiers)

Start:
17,660,192 bp from pter      End:
17,702,879 bp from pter
Size:
42,688 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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.)
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UniProtKB/Swiss-Prot: CECR1_HUMAN, Q9NZK5 (See protein sequence)
Recommended Name: Adenosine deaminase CECR1 precursor  
Size: 511 amino acids; 58934 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Homodimer. Interacts with adenosine receptors. Binds heparin
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
2 PDB 3D structures from and Proteopedia for CECR1:
3LGD (3D)        3LGG (3D)    
Secondary accessions: A8K9H4 Q6ICF1 Q86UB6 Q8NCJ2 Q96K41
Alternative splicing: 2 isoforms:  Q9NZK5-1   Q9NZK5-2   

Explore the universe of human proteins at neXtProt for CECR1: NX_Q9NZK5

Explore proteomics data for CECR1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys55, Lys296
  • Glycosylation2 at Asn127, Asn174, Asn185, Asn378
  • Modification sites at PhosphoSitePlus

  • See CECR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001269154.1  NP_001269155.1  NP_001269156.1  NP_001269157.1  NP_001269158.1  NP_803124.1  

    ENSEMBL proteins: 
     ENSP00000382733   ENSP00000332871   ENSP00000262607   ENSP00000442482   ENSP00000392078  
     ENSP00000382731   ENSP00000406443  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001365 A/AMP_deaminase_dom
     IPR013659 A_deaminase_N
     IPR006331 Ad_deam-like

    Graphical View of Domain Structure for InterPro Entry Q9NZK5

    ProtoNet protein and cluster: Q9NZK5

    1 Blocks protein domain: IPB013659 Adenosine/AMP deaminase N-terminal

    UniProtKB/Swiss-Prot: CECR1_HUMAN, Q9NZK5
    Domain: The PRB domain is involved in receptor binding, and may be responsible for the cytokine-like growth factor
    activity due to it's sharing of several structural properties with chemokines
    Domain: High-affinity binding to heparin/glycosaminoclycan (GAG) is mediated by a large, highly positively charged
    surface at the interface of dimer's subunits involving approximately residues 30-45, 389-396, and 422-428
    Similarity: Belongs to the adenosine and AMP deaminases family. ADGF subfamily


    CECR1 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CECR1_HUMAN, Q9NZK5
    Function: Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling
    molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme
    activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation
    and differentiation, independently of its enzyme activity
    Catalytic activity: Adenosine + H(2)O = inosine + NH(3)
    Biophysicochemical properties: Kinetic parameters: KM=2.25 mM for adenosine; pH dependence: Optimum pH is 6.6;

         Enzyme Number (IUBMB): EC 3.5.4.41

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004000adenosine deaminase activity IDA--
    GO:0008083growth factor activity NAS10756095
    GO:0008201heparin binding IEA--
    GO:0008270zinc ion binding IDA--
    GO:0019239deaminase activity ----
         
    CECR1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CECR1:
     Decreased TP53 protein express  Synthetic lethal with Ras  Synthetic lethal with paclitax 

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CECR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CECR1

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    4 qRT-PCR Assays for microRNAs that regulate CECR1:
    hsa-miR-146b-3p hsa-miR-622 hsa-miR-3915 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidCECR1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CECR1

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    Sino Biological Human cDNA Clone for CECR1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CECR1_HUMAN, Q9NZK5: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus4
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005794Golgi apparatus ----
    GO:0005829NOT cytosol IRD--

    CECR1 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).
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        Pathway & Disease-focused RT2 Profiler PCR Array including CECR1: 
              Growth Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CECR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for CECR1 (Q9NZK53 ENSP000002626074) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRRM2Q9UQ353, ENSP000003017404I2D: score=1 STRING: ENSP00000301740
    APRTENSP000003676154STRING: ENSP00000367615
    PPATENSP000002642204STRING: ENSP00000264220
    PREBENSP000002606434STRING: ENSP00000260643
    RHOT1ENSP000003511324STRING: ENSP00000351132
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006154adenosine catabolic process IDA--
    GO:0007275multicellular organismal development NAS10756095
    GO:0009168purine ribonucleoside monophosphate biosynthetic process ----
    GO:0043103hypoxanthine salvage IBA--
    GO:0046103inosine biosynthetic process IBA--

    CECR1 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CECR1



    (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 )
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    REFSEQ mRNAs for CECR1 gene (7 alternative transcripts): 
    NM_001282225.1  NM_001282226.1  NM_001282227.1  NM_001282228.1  NM_001282229.1  NM_177405.2  NM_017424.2  

    Unigene Cluster for CECR1:

    Cat eye syndrome chromosome region, candidate 1
    Hs.170310  [show with all ESTs]
    Unigene Representative Sequence: NM_017424
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399839(uc011agi.1) ENST00000330232(uc002zmj.1) ENST00000262607(uc002zmk.1 uc010gqu.1)
    ENST00000469063 ENST00000480276 ENST00000543038 ENST00000441548 ENST00000399837(uc011agj.1)
    ENST00000449907
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate CECR1:
    hsa-miR-146b-3p hsa-miR-622 hsa-miR-3915 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidCECR1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CECR1
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    GenScript: all cDNA clones in your preferred vector (see all 2): CECR1 (NM_017424)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CECR1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CECR1
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      QuantiFast Probe-based Assays in human, mouse, rat CECR1

    Additional mRNA sequence: 

    AB209648.1 AF190746.1 AK027682.1 AK074702.1 AK130725.1 AK292689.1 AK295174.1 AK304818.1 
    AK314321.1 BC051755.1 CR456417.1 

    10 DOTS entries:

    DT.112414  DT.95226025  DT.75194179  DT.102845133  DT.120629518  DT.120629525  DT.120629573  DT.100685683 
    DT.120629516  DT.91757942 

    Selected AceView cDNA sequences (see all 133):

    BX111961 BM479927 BP346237 BP345477 BQ269910 AI734040 CA773843 AI733917 
    AI591207 AK130725 BM726378 BQ711081 CR456417 BU948768 NM_177405 BU069124 
    AK074702 AI002841 BP344213 BU949550 BQ286567 AF190746 CD644567 NM_017424 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CECR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTAACCC
    CECR1 Expression
    About this image


    CECR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Thymus (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    CECR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CECR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.170310

    UniProtKB/Swiss-Prot: CECR1_HUMAN, Q9NZK5
    Tissue specificity: Detected in blood plasma (at protein level). Widely expressed, with most abundant expression
    in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo,
    expressed in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the
    notochord

        Pathway & Disease-focused RT2 Profiler PCR Array including CECR1: 
              Growth Factors in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR1

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

    Orthologs for CECR1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia CECR11 cat eye syndrome chromosome region, candidate 1 81.04(n)
    72.05(a)
      484249  XM_849704.3  XP_854797.1 
    chicken
    (Gallus gallus)
    Aves CECR11 cat eye syndrome chromosome region, candidate 1 66.59(n)
    59.78(a)
      418160  NM_001030767.2  NP_001025938.1 
    lizard
    (Anolis carolinensis)
    Reptilia CECR16
    cat eye syndrome chromosome region, candidate 1
    54(a)
    1 ↔ 1
    5(13811758-13830853)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.96872 Xenopus laevis transcribed sequence with weak similarity more 76.9(n)    BJ034120.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cecr12 cat eye syndrome chromosome region, candidate 1 76.38(n)   373884  BC045839.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Adgf-D1 , 3 adenosine deaminase3
    Adenosine deaminase-related growth factor D1
    44(a)
    (best of 6)3
    51.65(n)1
    40.74(a)1
      87F113
    416791  NM_079621.31  NP_524345.21 


    ENSEMBL Gene Tree for CECR1 (if available)
    TreeFam Gene Tree for CECR1 (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CECR1 (see all 891)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs96179621,2
    C,F,A--17659752(+) CGTCTG/CCCTGT 2 -- int1 ds50019Minor allele frequency- C:0.22NA WA CSA EA 370
    rs96179631,2
    C,F,A--17659774(+) CCTGCG/ACAGTT 2 -- int1 ds50019Minor allele frequency- A:0.22NA WA CSA EA 369
    rs1408336231,2
    C--17660032(+) CCCTGC/TCATCC 2 -- int1 ds50010--------
    rs96052311,2
    C,F--17660051(+) GGTGAG/CGACAG 2 -- int1 ds50016Minor allele frequency- C:0.13NA WA EA 364
    rs738766591,2
    C,F--17660056(+) GGACAG/AAGGTG 2 -- int1 ds50016Minor allele frequency- A:0.19WA NA CSA EA 364
    rs761413331,2
    C,F--17660071(+) CTTGCA/CTCCTT 2 -- int1 ds50011Minor allele frequency- C:0.06WA 118
    rs1422073111,2
    C--17660216(+) ATTGAA/GTACTA 2 -- ut310--------
    rs1512145311,2
    --17660251(+) GTTAGC/TAGCAT 2 -- ut310--------
    rs11359141,2
    C,F,A--17660303(-) CTGTAT/AGCCCC 2 -- ut3110Minor allele frequency- A:0.21MN NA WA CSA EA 553
    rs1920112791,2
    --17660307(+) CATACA/GGTCTG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CECR1 (17660192 - 17702879 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CECR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673573CNV Deletion23128226
    esv2723945CNV Deletion23290073
    esv1443377CNV Deletion17803354
    nsv509805CNV Insertion20534489
    nsv519933CNV Loss19592680
    nsv191400CNV Loss16902084
    nsv528777CNV Loss19592680
    nsv191229CNV Loss16902084

    Human Gene Mutation Database (HGMD): CECR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CECR1
    DNA2.0 Custom Variant and Variant Library Synthesis for CECR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607575   
    OMIM disorders: 615688  
    11 diseases for CECR1:    
    About MalaCards
    pediatric polyarteritis nodosa    congenital toxoplasmosis    cat eye syndrome    coloboma of iris
    toxoplasmosis    22q11.2 duplication    coloboma    pleurisy
    severe combined immunodeficiency    diabetic retinopathy    malaria

    1 disease from the University of Copenhagen DISEASES database for CECR1:
    Congenital toxoplasmosis

    CECR1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CECR1
    Human Genome Epidemiology (HuGE) Navigator: CECR1 (2 documents)

    Export disorders for CECR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CECR1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with CECR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. (PubMed id 10756095)1, 2, 3, 9 Riazi M.A.... McDermid H.E. (Genomics 2000)
    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. Structural basis for the growth factor activity of human adenosine deaminase ADA2. (PubMed id 20147294)1, 2 Zavialov A.V.... Zavialov A.V. (J. Biol. Chem. 2010)
    4. Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages. (PubMed id 20453107)1, 2 Zavialov A.V....Lauvau G. (J. Leukoc. Biol. 2010)
    5. Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity. (PubMed id 15926889)1, 2 Zavialov A.V. and Engstroem A. (Biochem. J. 2005)
    6. 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. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    9. Early-onset stroke and vasculopathy associated with mutations in ADA2. (PubMed id 24552284)1 Zhou Q....Aksentijevich I. (N. Engl. J. Med. 2014)
    10. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. (PubMed id 24552285)1 Navon Elkan P....Levy-Lahad E. (N. Engl. J. Med. 2014)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51816 HGNC: 1839 AceView: CECR1 Ensembl:ENSG00000093072 euGenes: HUgn51816
    ECgene: CECR1 H-InvDB: CECR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CECR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CECR1 gene:
    Search GeneIP for patents involving CECR1

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



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