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CGGBP1 Gene

protein-coding   GIFtS: 50
GCID: GC03M088101

CGG Triplet Repeat Binding Protein 1

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(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
CGG Triplet Repeat Binding Protein 11 2     CGG-Binding Protein 12 3
P20-CGG Binding Protein1 2     P20-CGGBP DNA-Binding Protein2 3
20 KDa CGG-Binding Protein2 3     CGG Triplet Repeat-Binding Protein 12
CGGBP2 3     p20-CGGBP2

External Ids:    HGNC: 18881   Entrez Gene: 85452   Ensembl: ENSG000001633207   OMIM: 6033635   UniProtKB: Q9UFW83   

Export aliases for CGGBP1 gene to outside databases

Previous GC identifers: GC03M088628 GC03M090882 GC03M087981 GC03M088022 GC03M087987 GC03M088183


(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 CGGBP1 Gene:
CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental
retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its
5-prime UTR.(supplied by OMIM, Mar 2008)

GeneCards Summary for CGGBP1 Gene:
CGGBP1 (CGG triplet repeat binding protein 1) is a protein-coding gene. GO annotations related to this gene include double-stranded DNA binding.

UniProtKB/Swiss-Prot: CGBP1_HUMAN, Q9UFW8
Function: Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in
regulating FMR1 promoter

Gene Wiki entry for CGGBP1 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 at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CGGBP1 gene promoter:
         Sp1   Meis-1b   GATA-1   POU2F1   HSF2   HFH-1   POU2F1a   ZIC2/Zic2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCGGBP1 promoter sequence
   Search Chromatin IP Primers for CGGBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CGGBP1


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

Entrez Gene cytogenetic band: 3p12-p11.1   Ensembl cytogenetic band:  3p11.1   HGNC cytogenetic band: 3p12-p11.1

CGGBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CGGBP1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M088101:  view genomic region     (about GC identifiers)

Start:
88,101,094 bp from pter      End:
88,199,035 bp from pter
Size:
97,942 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CGBP1_HUMAN, Q9UFW8 (See protein sequence)
Recommended Name: CGG triplet repeat-binding protein 1  
Size: 167 amino acids; 18820 Da
Developmental stage: Expressed in fetal brain and kidney. Lower expression in fetal liver and lung
Miscellaneous: Binding is severely inhibited by complete or partial cytosine-specific DNA methylation of the
binding motif
Sequence caution: Sequence=CAB55894.1; Type=Frameshift; Positions=149;
Secondary accessions: D3DU38 O15183

Explore the universe of human proteins at neXtProt for CGGBP1: NX_Q9UFW8

Explore proteomics data for CGGBP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CGGBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001008391.1  NP_001182237.1  NP_003654.3  

    ENSEMBL proteins: 
     ENSP00000381428   ENSP00000381429   ENSP00000420374   ENSP00000418769   ENSP00000419459  

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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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    ProtoNet protein and cluster: Q9UFW8


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CGBP1_HUMAN, Q9UFW8
    Function: Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in
    regulating FMR1 promoter

         Genatlas biochemistry entry for CGGBP1:
    nuclear protein,20kDa,specifically binding CGG triplet repeat (ds DNA,5'-d (CGG) 17-3' in FMR1 gene)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003690double-stranded DNA binding TAS8626781
         
    Find genes that share ontologies with CGGBP1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for CGGBP1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Decreased number of cells in m 

    Animal Models:
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    hsa-mir-96-5p (MIRT027916)

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    Selected qRT-PCR Assays for microRNAs that regulate CGGBP1 (see all 54):
    hsa-miR-26a-2* hsa-miR-19b-2* hsa-miR-300 hsa-miR-429 hsa-miR-200a hsa-miR-485-3p hsa-miR-218 hsa-miR-570
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    (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
    CGBP1_HUMAN, Q9UFW8: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion2
    cytosol1
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with CGGBP1           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CGGBP1
    Interactions:

        Search GeneGlobe Interaction Network for CGGBP1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for CGGBP1 (Q9UFW83 ENSP000003814284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUV39H2Q9H5I13, ENSP000003192084I2D: score=3 STRING: ENSP00000319208
    PLEKHF2Q9H8W43I2D: score=1 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    Find genes that share ontologies with CGGBP1           About GenesLikeMe



    (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
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    Browse Tocris compounds for CGGBP1 (CGBP1)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CGGBP1 gene (3 alternative transcripts): 
    NM_001008390.1  NM_001195308.1  NM_003663.3  

    Unigene Cluster for CGGBP1:

    CGG triplet repeat binding protein 1
    Hs.444818  [show with all ESTs]
    Unigene Representative Sequence: NM_001008390
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309534(uc003dqs.3 uc003dqt.3 uc003dqu.3) ENST00000398392(uc021xbe.1)
    ENST00000482016 ENST00000462901 ENST00000467332 ENST00000474441
    miRNA
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    hsa-miR-26a-2* hsa-miR-19b-2* hsa-miR-300 hsa-miR-429 hsa-miR-200a hsa-miR-485-3p hsa-miR-218 hsa-miR-570
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      QuantiFast Probe-based Assays in human, mouse, rat CGGBP1

    Additional mRNA sequence: 

    AJ000258.1 AL117392.1 AL357195.1 BC005222.1 BC052980.1 CR456854.1 

    14 DOTS entries:

    DT.95159839  DT.92445511  DT.95159838  DT.118840  DT.92445510  DT.92445500  DT.91874114  DT.100824093 
    DT.120897762  DT.120897739  DT.120897774  DT.120897812  DT.92445501  DT.95329680 

    Selected AceView cDNA sequences (see all 394):

    Z43617 AI754579 BM470588 AA411734 BM149413 AW020491 AA490512 BM467739 
    AA081445 BF431384 BM661742 AI219500 AA370613 C16271 AI753034 BQ006755 
    BG770821 AA768450 AI334718 AI247725 BM695888 BX955817 AW572603 AI915812 

    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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    CGGBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGCTTAGT
    CGGBP1 Expression
    About this image


    CGGBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CGGBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CGGBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444818

    UniProtKB/Swiss-Prot: CGBP1_HUMAN, Q9UFW8
    Tissue specificity: Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex.
    Low expression in other regions of the brain

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CGGBP1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cggbp11 , 5 CGG triplet repeat binding protein 11, 5 91.62(n)1
    98.2(a)1
      16 (37.10 cM)5
    1061431  NM_178647.21  NP_848762.11 
     648519965 
    chicken
    (Gallus gallus)
    Aves CGGBP11 CGG triplet repeat binding protein 1 81.12(n)
    88.48(a)
      770224  XM_004938303.1  XP_004938360.1 
    lizard
    (Anolis carolinensis)
    Reptilia CGGBP16
    CGG triplet repeat binding protein 1
    65(a)
    1 ↔ 1
    5(883118-885074)


    ENSEMBL Gene Tree for CGGBP1 (if available)
    TreeFam Gene Tree for CGGBP1 (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 CGGBP1 (see all 1543)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1441264921,2
    C--88100628(+) GTCTC-/ATAA  
            
    ATAAA
    3 -- int1 ds50010--------
    rs574523651,2
    C--88100629(+) ATAAA-/ATA   
      A
    /TAAA
    CTGGA
    3 -- int1 ds50011NA 2
    rs601343031,2
    C,F--88100662(+) GAAGCA/GGAAGT 3 -- int1 ds50012Minor allele frequency- G:0.06WA 120
    rs1488413101,2
    C--88100726(+) TGATG-/ATTA  
            
    ATTAA
    3 -- int1 ds50010--------
    rs1841451181,2
    --88100838(+) TGGTAA/GTGAGA 3 -- int1 ds50010--------
    rs1897201961,2
    --88101166(+) CTTTTG/TAAACA 3 -- ut310--------
    rs1996681211,2
    --88101166(+) CTTTT-/GAAACAA 3 -- ut310--------
    rs1807940371,2
    --88101167(+) TTTTGA/TAACAA 3 -- ut310--------
    rs1447207431,2
    C--88101339(+) AAGAAC/TTGTAT 3 -- ut310--------
    rs76289391,2
    C,F,H--88101485(+) ACCCAA/GTTTTC 3 -- ut3110Minor allele frequency- G:0.04NS EA NA WA 1212

    HapMap Linkage Disequilibrium report for CGGBP1 (88101094 - 88199035 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CGGBP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877146CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CGGBP1
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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.)
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    OMIM gene information: 603363    OMIM disorders: --


    Find genes that share disorders with CGGBP1           About GenesLikeMe


    Export disorders for CGGBP1 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 CGGBP1 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with CGGBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1). (PubMed id 14667814)1, 2, 3 Naumann F.... Doerfler W. (Genomics 2004)
    2. Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene. (PubMed id 9201980)1, 2, 3 Deissler H.... Doerfler W. (J. Biol. Chem. 1997)
    3. 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)
    4. The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter. (PubMed id 10692448)1, 9 MA1ller-Hartmann H....Doerfler W. (J. Biol. Chem. 2000)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    7. CGGBP1 regulates cell cycle in cancer cells. (PubMed id 21733196)1 Singh U....Westermark B. (BMC Mol. Biol. 2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. [The role of ZF5 and CGGBP-20 transcription factors in expression regulation of human FMR1 gene responsible for X-fragile syndrome]. (PubMed id 20141036)1 GulyA- P.V....Perevozchikov A.P. (Tsitologiia 2009)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8545 HGNC: 1888 AceView: CGGBP1 Ensembl:ENSG00000163320 euGenes: HUgn8545
    ECgene: CGGBP1 H-InvDB: CGGBP1

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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 CGGBP1 Pharmacogenomics, SNPs, Pathways

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