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

CECR1 Gene

protein-coding   GIFtS: 56
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)
About This Section

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     CECR25
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 22q11.2 duplication, 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011519.10  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the 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 SABiosciences Chromatin IP Primers for CECR1

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

UniProtKB/Swiss-Prot: 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
Subcellular location: Secreted
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZK5

  • CECR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CECR1 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001269154.1  NP_001269155.1  NP_001269156.1  NP_001269157.1  NP_001269158.1  NP_803124.1  NP_059120.2  

    ENSEMBL proteins: 
     ENSP00000382733   ENSP00000332871   ENSP00000262607   ENSP00000442482   ENSP00000392078  
     ENSP00000382731   ENSP00000406443  

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    Novus Biologicals CECR1 Proteins
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    Sino Biological Recombinant Protein for CECR1
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    Cloud-Clone Corp. Proteins for CECR1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    CECR1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/8 molecular function terms (GO ID links to tree view) (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:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CECR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CECR1

       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 QIAGEN miScript miRNA 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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    Sino Biological Human cDNA Clone for CECR1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CECR1


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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CECR1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CECR1 (Q9NZK53 ENSP000002626074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRRM2Q9UQ353, ENSP000003017404I2D: score=1 STRING: ENSP00000301740
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006154adenosine catabolic process IDA--
    GO:0007275multicellular organismal development NAS10756095
    GO:0009168purine ribonucleoside monophosphate biosynthetic process IEA--
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CECR1

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

    REFSEQ mRNAs for 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 QIAGEN miScript miRNA 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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    Sirion Biotech Customized lentivirus for stable overexpression of CECR1 
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    Primer
    Products:
        
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    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 

    24/133 AceView cDNA sequences (see all 133):

    BQ711081 BU069124 AI734040 BP346237 BM479927 BP345477 BP344213 CR456417 
    AK130725 AK074702 BM726378 CA773843 BU948768 NM_177405 AI591207 BX111961 
    AI002841 AI733917 BU949550 BQ269910 AA348023 AA293109 AW248861 AI679371 

    GeneLoc Exon Structure


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

    CECR1 expression in normal human tissues (normalized intensities)      CECR1 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Thymus (Hematopoietic System)
             Thymus   
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Endothelium (Cardiovascular System)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Blood (Hematopoietic System)
             Plasmacytoid Dendritic cells Peripheral Blood
     
     Lymph (Hematopoietic System)
             Lymphnode   

    See CECR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CECR1

    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

        SABiosciences Expression via Pathway-Focused PCR Array including CECR1: 
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    In Situ
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    (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 animals.

    Orthologs for CECR1 gene from 6/13 species (see all 13)    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 80.97(n)
    72.05(a)
      484249  XM_849704.2  XP_854797.1 
    chicken
    (Gallus gallus)
    Aves CECR11 cat eye syndrome chromosome region, candidate 1 66.52(n)
    59.78(a)
      418160  NM_001030767.1  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_079621.21  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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/891 SNPs in CECR1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607575    OMIM disorders: --

    6 diseases for CECR1:    About MalaCards
    22q11.2 duplication    congenital toxoplasmosis    coloboma of iris    toxoplasmosis
    coloboma    severe combined immunodeficiency

    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)
    About This Section

    PubMed articles for CECR1 gene, integrated from 9 sources (see all 21):
    (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. (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. (2010)
    3. Structural basis for the growth factor activity of hu man adenosine deaminase ADA2. (PubMed id 20147294)1, 2 Zavialov A.V....Zavialov A.V. (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. (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 Engstrom A. (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. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    9. Potential roles of adenosine deaminase-2 in diabetic r etinopathy. (PubMed id 23685153)1 Elsherbiny N.M....Liou G.I. (2013)
    10. Prenatal diagnosis and molecular cytogenetic character ization of mosaicism for a small supernumerary marker chromosome derived from ch romosome 22 associated with cat eye syndrome. (PubMed id 23747353)1 Chen C.P....Wang W. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section
      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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