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

CGREF1 Gene

protein-coding   GIFtS: 46
GCID: GC02M027321

cell growth regulator with EF-hand domain 1

  Search for CGREF1
in our new
 Human Malady Compendium 
Biological research products
for CGREF1
    

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

Aliases
Cell Growth Regulator With EF-Hand Domain 11 2     Cell Growth Regulator With EF Hand Domain Protein 12
CGR111 2 3     Hydrophobestin3
Cell Growth Regulatory Gene 11 Protein2 3     Hydrophobestin3
Cell Growth Regulator With EF Hand Domain 12     

External Ids:    HGNC: 169621   Entrez Gene: 106692   Ensembl: ENSG000001380287   OMIM: 6061375   UniProtKB: Q996743   

Export aliases for CGREF1 gene to outside databases

Previous GC identifers: GC02M027280 GC02M027298 GC02M027235 GC02M027176 GC02M027064


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

UniProtKB/Swiss-Prot: CGRE1_HUMAN, Q99674
Function: Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several
cell lines




(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_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CGREF1 gene promoter:
         Nkx2-2   AP-2gamma   LCR-F1   HNF-4alpha1   AREB6   HEN1   STAT3   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CGREF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CGREF1


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

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3

CGREF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CGREF1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M027321:  view genomic region     (about GC identifiers)

Start:
27,321,757 bp from pter      End:
27,341,995 bp from pter
Size:
20,239 bases      Orientation:
minus strand

(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: CGRE1_HUMAN, Q99674 (See protein sequence)
Recommended Name: Cell growth regulator with EF hand domain protein 1 precursor  
Size: 301 amino acids; 31905 Da
Subcellular location: Secreted (By similarity)
Secondary accessions: A6NHV7 B5MCB7 Q8N4B7
Alternative splicing: 2 isoforms:  Q99674-1   Q99674-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CGREF1: NX_Q99674

Post-translational modifications:

  • Probably digested extracellularly by an unknown serine protease generating extremely hydrophobic bioactive peptides (By
  • similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99674

  • CGREF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001159711.1  NP_001159712.1  NP_001159713.1  NP_006560.3  

    ENSEMBL proteins: 
     ENSP00000394306   ENSP00000385103   ENSP00000385452   ENSP00000386113   ENSP00000324025  
     ENSP00000385574   ENSP00000395042   ENSP00000260595  

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    OriGene Purified Protein: CGREF1
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    OriGene Custom Protein Services for CGREF1 
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    Novus Biologicals CGREF1 Protein
    Novus Biologicals CGREF1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CGREF1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--


    CGREF1 for ontologies           About GeneDecksing



    CGREF1 Antibody Products: 
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    Search for Antibodies for CGREF1 at Abcam  
    Uscn Antibodies for CGREF1
    Search ThermoFisher Antibodies for CGREF1

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    Uscn ELISAs and CLIAs for CGREF1


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

    CGREF1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q99674

    ProtoNet protein and cluster: Q99674

    UniProtKB/Swiss-Prot: CGRE1_HUMAN, Q99674
    Domain: Both EF-hands are required for function (By similarity)
    Similarity: Contains 2 EF-hand domains


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: CGRE1_HUMAN, Q99674
    Function: Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several
    cell lines
    Induction: By p53/TP53

    miRNA
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    hsa-miR-125a-5p hsa-miR-670 hsa-miR-125b hsa-miR-558 hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidCGREF1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CGREF1 (see all 4)
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    Clone
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CGREF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CGREF1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CGREF1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--


    CGREF1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CGREF1:
     Decreased number of cells in m 


    (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 CGREF1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006950response to stress TAS8968090
    GO:0007050cell cycle arrest IEA--
    GO:0007155cell adhesion IEA--
    GO:0008285negative regulation of cell proliferation TAS8968090
    GO:0030308negative regulation of cell growth ----


    CGREF1 for ontologies           About GeneDecksing



    (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 CGREF1
    Search CenterWatch for drugs/clinical trials and news about CGREF1 / CGRE1 

    (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 CGREF1 gene (4 alternative transcripts): 
    NM_001166239.1  NM_001166240.1  NM_001166241.1  NM_006569.5  

    Unigene Cluster for CGREF1:

    Cell growth regulator with EF-hand domain 1
    Hs.159525  [show with all ESTs]
    Unigene Representative Sequence: NM_006569
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000440612 ENST00000402550(uc021vez.1) ENST00000402394(uc002riq.3 uc021vfa.1 uc002rir.2)
    ENST00000405600(uc010eys.2) ENST00000312734 ENST00000404694(uc010eyr.2)
    ENST00000467539 ENST00000452318(uc010ylf.2) ENST00000260595

    miRNA
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    hsa-miR-125a-5p hsa-miR-670 hsa-miR-125b hsa-miR-558 hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidCGREF1 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CGREF1 (see all 4)
    OriGene shRNA RFP: CGREF1
    OriGene siRNA: CGREF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CGREF1
    Clone
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    Additional cDNA sequence: 

    AK290128.1 AK302185.1 AK309147.1 BC034764.1 U66468.1 

    7 DOTS entries:

    DT.95104790  DT.447396  DT.447395  DT.100773249  DT.97851257  DT.121007671  DT.97846451 

    24/66 AceView cDNA sequences (see all 66):

    BM711657 CR619230 BM849276 BM673850 BM785106 CR593274 BQ446998 AA325461 
    CR623121 Z41432 CB160391 NM_006569 BM738764 BM716977 BX419588 AA814489 
    AL525583 BM742679 AL536349 AW071890 AU141077 BF063291 T33525 AI880122 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CGREF1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
    SP1:                                                
    SP2:                                                


    ECgene alternative splicing isoforms for CGREF1

    (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

    CGREF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGGCATTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CGREF1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
    KidneyProximal TubuleProximal Tubule CellsKidney
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BoneMandibular FossaBone
    BoneStylopod Long BoneBone
    BoneThoracic RibBone
    KidneyEpithelial TubuleKidney
    KidneyMetanephrosKidney
    KidneyProximal TubuleKidney
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CGREF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CGREF1

    SOURCE GeneReport for Unigene cluster: Hs.159525
        SABiosciences Custom PCR Arrays for CGREF1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CGREF1

    (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 chordates.

    Orthologs for CGREF1 gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cgref11 , 5 cell growth regulator with EF hand domain 11, 5 75.15(n)1
    67.9(a)1
      5 (16.90 cM)5
    685671  NM_026770.11  NP_081046.11 
     309331465 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5595761 uncharacterized LOC559576 47.33(n)
    35(a)
      559576  XM_682932.5  XP_688024.3 


    ENSEMBL Gene Tree for CGREF1 (if available)
    TreeFam Gene Tree for CGREF1 (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, 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

    10/388 NCBI SNPs in CGREF1 are shown (see all 388    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1132338391,2
    C,F,--27324216(+) TGTTTC/TCCCTG 6 K E int1 mis12Minor allele frequency- T:0.00CSA NA 4554
    rs1405169901,2
    C,F--27324222(+) CCCTGG/TAAGTT 6 T P int1 mis11Minor allele frequency- T:0.00NA 4552
    rs10573931,2
    C--27324289(-) GCCCCC/TGGGCC 6 P syn1 int1 ese31Minor allele frequency- T:0.00NA 4536
    rs118934271,2
    C,F,H--27324340(+) GGCCCG/AGGGGC 6 /P int1 syn1 ese33Minor allele frequency- A:0.50NA 8
    rs10573911,2
    C,F,H,--27324354(-) AGGCTG/AAAGGA 6 /K /E int1 mis1 ese33Minor allele frequency- A:0.50NA WA 8
    rs10573891,2
    C,F,H--27324371(-) AGCTGG/AGGGCC 6 /E /G mis1 int12Minor allele frequency- A:0.33NA 6
    rs770047461,2
    C,F--27324391(+) GGCCCA/GGGGGC 6 P int1 syn11Minor allele frequency- G:0.00NA 4002
    rs118898311,2
    C,F,H--27324403(+) TCTCCT/ATTAGC 6 /K /N int1 mis1 ese36Minor allele frequency- A:0.01NS EA NA 422
    rs118898321,2
    C,F,H--27324405(+) TCCTTT/CAGCCT 6 /K /E int1 mis1 ese34Minor allele frequency- C:0.00NS NA 4088
    rs1386160601,2
    F--27324418(+) GCCTGG/ACCCTC 6 /G int1 syn11Minor allele frequency- A:0.00NA 3912

    HapMap Linkage Disequilibrium report for CGREF1 (27321757 - 27341995 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CGREF1
         1 CNV: 9399

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CGREF1 for disorders           About MalaCards

    CGREF1 for disorders           About GeneDecksing

    OMIM gene information: 606137    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for CGREF1:
    Dermatitis herpetiformis
    Human Genome Epidemiology (HuGE) Navigator: CGREF1 (3 documents)

    Export disorders for CGREF1 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 CGREF1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CGREF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Induction of cell growth regulatory genes by p53. (PubMed id 8968090)1, 2, 3 Madden S.L.... Beaudry G.A. (1996)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    3. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    6. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10669 HGNC: 16962 AceView: CGREF1 Ensembl:ENSG00000138028 euGenes: HUgn10669
    ECgene: CGREF1 H-InvDB: CGREF1

    (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 CGREF1 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 CGREF1 gene:
    Search GeneIP for patents involving CGREF1

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



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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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