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GGN Gene

protein-coding   GIFtS: 45
GCID: GC19M038874

Gametogenetin
  See related diseases
at
MalaCards
 

Aliases
for GGN gene

(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
gametogenetin1 2

External Ids:    HGNC: 188691   Entrez Gene: 1997202   Ensembl: ENSG000001791687   OMIM: 6099665   UniProtKB: Q86UU53   

Export aliases for GGN gene to outside databases

Previous GC identifers: GC19M043551 GC19M043566 GC19M035322


Summaries
for GGN gene

(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 GGN Gene:
This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells).
Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins,
namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear,
cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may
play a role in spermatogenesis. (provided by RefSeq, Jul 2008)

GeneCards Summary for GGN Gene:
GGN (gametogenetin) is a protein-coding gene. Diseases associated with GGN include hypospadias, and wiskott-aldrich syndrome. GO annotations related to this gene include protein dimerization activity.

UniProtKB/Swiss-Prot: GGN_HUMAN, Q86UU5
Function: May be involved in spermatogenesis (By similarity)




Genomic Views
for GGN 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_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GGN gene promoter:
         E2F-4   E2F-3a   E2F-5   Nkx2-5   E2F-2   CREB   E2F-1   E2F   deltaCREB   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GGN promoter sequence
   Search Chromatin IP Primers for GGN

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


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M038874:  view genomic region     (about GC identifiers)

Start:
 38,874,905 bp from pter      End:
 38,878,722 bp from pter
Size:
 3,818 bases      Orientation:
 minus strand

Proteins
for GGN gene

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GGN_HUMAN, Q86UU5 (See protein sequence)
Recommended Name: Gametogenetin  
Size: 652 amino acids; 66699 Da
Subunit: Interacts with FANCL, GGNBP1 and ZNF403/GGNBP2 (By similarity)
Secondary accessions: Q7RTU6 Q86UU4 Q8NAA1
Alternative splicing: 3 isoforms:  Q86UU5-1   Q86UU5-2   Q86UU5-3   

Explore the universe of human proteins at neXtProt for GGN: NX_Q86UU5

Explore proteomics data for GGN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_689870.3  
    ENSEMBL proteins: 
     ENSP00000334940   ENSP00000467295   ENSP00000467084   ENSP00000465186  

    GGN Human Recombinant Protein Products:

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    Novus Biologicals GGN Protein
    Novus Biologicals GGN Lysate
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    Cloud-Clone Corp. Proteins for GGN

    GGN Antibody Products:

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    LSBio Antibodies in human, mouse, rat for GGN

    GGN Assay Products:

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    Cloud-Clone Corp. CLIAs for GGN

    Domains /
    Families
    for GGN gene

    (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: Q86UU5


    Function
    for GGN gene

    (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: GGN_HUMAN, Q86UU5
    Function: May be involved in spermatogenesis (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0046983protein dimerization activity IEA--
         
    GGN for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GGN:
     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ggn):
     cellular  homeostasis/metabolism  mortality/aging 

    GGN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ggntm1Dpj for GGN

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GGN
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GGN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GGN

    miRNA
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    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGN

    Cell Line
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    In Situ Assay
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    Localization
    for GGN gene

    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm ----
    GO:0048471perinuclear region of cytoplasm IEA--

    GGN for ontologies           About GeneDecksing


    Pathways & Interactions
    for GGN gene

    (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 GGN
    Interactions:

        GeneGlobe Interaction Network for GGN

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

    5 Interacting proteins for GGN (Q86UU53 ENSP000003349404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCLQ9NW383, ENSP000003850214I2D: score=1 STRING: ENSP00000385021
    GGNBP1Q5YKI73, ENSP000003635824I2D: score=1 STRING: ENSP00000363582
    GGNBP2Q9H3C73, ENSP000003076174I2D: score=3 STRING: ENSP00000307617
    OAZ3Q9UMX23, ENSP000003139224I2D: score=2 STRING: ENSP00000313922
    CCNB1IP1ENSP000003373964STRING: ENSP00000337396
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007276gamete generation ISS--
    GO:0007283spermatogenesis IEA--
    GO:0008104protein localization IEA--
    GO:0030154cell differentiation IEA--

    GGN for ontologies           About GeneDecksing



    Drugs & Compounds
    for GGN gene

    (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 GGN



    Transcripts
    for GGN gene

    (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,
    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 GGN gene (2 alternative transcripts): 
    NM_152657.3  NM_182477.1  

    Unigene Cluster for GGN:

    Gametogenetin
    Hs.447948  [show with all ESTs]
    Unigene Representative Sequence: AF538035
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334928(uc002oij.1 uc002oik.1 uc010efy.1) ENST00000591809
    ENST00000585737 ENST00000586599 ENST00000587676
    miRNA
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    Additional mRNA sequence: 

    AF538035.1 AF538037.1 AK057356.2 AK093032.1 BC035008.2 

    4 DOTS entries:

    DT.100018246  DT.121433500  DT.121433499  DT.92059597 

    Selected AceView cDNA sequences (see all 34):

    BC035008 AK093032 AA609137 AI201296 AI656796 AF538037 AX747869 BX098794 
    NM_152657 AA383127 AW949856 AK057356 BK000550 AA725026 BQ064582 AA400144 
    AI016248 AA971327 AA609724 AF538035 AF538036 AA421507 NM_182477 AI024165 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GGN (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7
    SP1:              -           -     -                                 
    SP2:              -                             -                     
    SP3:              -                                                   
    SP4:              -           -     -     -     -     -               
    SP5:                                                                  


    ECgene alternative splicing isoforms for GGN

    Expression
    for GGN gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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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    GGN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAATAAAAT
    GGN Expression
    About this image

    GGN Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    GGN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.447948
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGN

    Orthologs
    for GGN gene

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

    Orthologs for GGN gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ggn1 , 5 gametogenetin1, 5 76.11(n)1
    71.52(a)1    		   7 (16.94 cM)5
    2438971  NM_182694.21  NP_874353.21 
     291702205 


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

    Paralogs
    for GGN gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Genomic Variants
    for GGN gene

    (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 GGN (see all 131)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1122679211,2
    		C,F--38874994(+) GCATCT/GGGATT 1 -- ut311Minor allele frequency- G:0.01EU 1295
    rs621234811,2
    		C,F--38875072(+) GGCCTA/C/GCAAGT 3 Q E * mis1 stg14NA EU 5962
    rs2006530011,2
    		--38875109(+) GAGCCA/GGACAG 2 S syn10--------
    rs1459107271,2
    		C,F--38875159(+) GGTGGA/GTGTGC 2 P S mis11Minor allele frequency- G:0.00NA 4546
    rs1827348481,2
    		--38875248(+) CCCCAA/TATGAA 1 -- int10--------
    rs1440863961,2
    		--38875270(+) CTGAAA/GGCTAT 1 -- int10--------
    rs110834541,2
    		C,F,H--38875482(+) TTGTCC/TCCCTG 1 -- int112Minor allele frequency- T:0.04NS EA NA CSA 1664
    rs1886109141,2
    		--38875599(+) GAGGGA/GTCAGG 1 -- int10--------
    rs1917860841,2
    		--38875868(+) GTGTCC/TCCCTT 1 -- int10--------
    rs785549111,2
    		C,F--38875871(+) TCCCCC/TTTTCC 1 -- int11Minor allele frequency- T:0.09WA 118

    HapMap Linkage Disequilibrium report for GGN (38874905 - 38878722 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GGN:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3857n71CNV Loss21882294
    nsv833823CNV Loss17160897
    nsv911658CNV Loss21882294
    nsv833822CNV Loss17160897
    nsv911659CNV Loss21882294
    nsv911660CNV Gain21882294
    nsv470140CNV Gain18288195

    Site Specific Mutation Identification with PCR Assays
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    Disorders / Diseases
    for GGN gene

    (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.)
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    OMIM gene information: 609966    OMIM disorders: --

    4 diseases for GGN:    
    About MalaCards
    hypospadias    wiskott-aldrich syndrome    male infertility    infertility

    1 disease from the University of Copenhagen DISEASES database for GGN:
    Male infertility

    GGN for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: GGN (47 documents)

    Export disorders for GGN gene to outside databases

    Publications
    for GGN gene

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

    1. Mouse GGN1 and GGN3, two germ cell-specific proteins from the single gene Ggn, interact with mouse POG and play a role in spermatogenesis. (PubMed id 12574169)1, 2, 3 Lu B. and Bishop C.E. (J. Biol. Chem. 2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    5. GGN1 in the testis and ovary and its variance within the Australian fertile and infertile male population. (PubMed id 21114676)1 Jamsai D....O'Bryan M.K. (Int. J. Androl. 2011)
    6. Yeast two-hybrid screens imply that GGNBP1, GGNBP2 and OAZ3 are potential interaction partners of testicular germ cell-specific protein GGN1. (PubMed id 15642376)1 Zhang J....Lu B. (FEBS Lett. 2005)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    External Searches for GGN gene

    (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)

    Genome Databases showing GGN gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 199720 HGNC: 18869 AceView: GGN Ensembl:ENSG00000179168 euGenes: HUgn199720
    ECgene: GGN H-InvDB: GGN

    Other Databases showing GGN gene

    (According to HUGE)
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    Specialized Databases showing GGN gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GGN Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for GGN gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for GGN gene:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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