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

GLT8D2 Gene

protein-coding   GIFtS: 49
GCID: GC12M104382

Glycosyltransferase 8 Domain Containing 2

  Search for GLT8D2
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
Glycosyltransferase 8 Domain Containing 21 2
Glycosyltransferase 8 Domain-Containing Protein 22
gycosyltransferase2
EC 2.4.1.-3
GALA4A3
EC 2.4.18

External Ids:    HGNC: 248901   Entrez Gene: 834682   Ensembl: ENSG000001208207   UniProtKB: Q9H1C33   

Export aliases for GLT8D2 gene to outside databases

Previous GC identifers: GC12M102886 GC12M101442


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

GeneCards Summary for GLT8D2 Gene: 
GLT8D2 (glycosyltransferase 8 domain containing 2) is a protein-coding gene. GO annotations related to this gene include transferase activity, transferring glycosyl groups. An important paralog of this gene is GLT8D1.


(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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GLT8D2 gene promoter:
         Sp1   Pbx1a   Olf-1   AP-4   POU3F2   POU2F1   FOXJ2 (long isoform)   POU2F1a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGLT8D2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GLT8D2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLT8D2


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

Entrez Gene cytogenetic band: 12q   Ensembl cytogenetic band:  12q23.3   HGNC cytogenetic band: 12q23.3

GLT8D2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLT8D2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M104382:  view genomic region     (about GC identifiers)

Start:
104,382,762 bp from pter      End:
104,457,961 bp from pter
Size:
75,200 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: GL8D2_HUMAN, Q9H1C3 (See protein sequence)
Recommended Name: Glycosyltransferase 8 domain-containing protein 2  
Size: 349 amino acids; 40026 Da
Subcellular location: Membrane; Single-pass type II membrane protein (Potential)
Secondary accessions: Q96KA2

Explore the universe of human proteins at neXtProt for GLT8D2: NX_Q9H1C3

Explore proteomics data for GLT8D2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H1C3

  • 4/6 DME Specific Peptides for GLT8D2 (Q9H1C3) (see all 6)
     GHAAAFS  FYVVGLR  AKLLHWNG  DDDVIVQGDI 

    GLT8D2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GLT8D2 Protein Expression
    REFSEQ proteins: NP_112592.1  
    ENSEMBL proteins: 
     ENSP00000354053   ENSP00000449750   ENSP00000447450   ENSP00000446810   ENSP00000448065  

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    Novus Biologicals GLT8D2 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GLT8D2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    GLT8D2 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
    HGNC Gene Families: 
    GLT8: Glycosyltransferase family 8 domain containing

    1 InterPro protein domain:
     IPR002495 Glyco_trans_8

    Graphical View of Domain Structure for InterPro Entry Q9H1C3

    ProtoNet protein and cluster: Q9H1C3

    1 Blocks protein domain: IPB002495 Glycosyl transferase

    UniProtKB/Swiss-Prot: GL8D2_HUMAN, Q9H1C3
    Similarity: Belongs to the glycosyltransferase 8 family


    GLT8D2 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

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016757transferase activity, transferring glycosyl groups IEA--
         
    GLT8D2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GLT8D2:
     Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Glt8d2):
     immune system 

    GLT8D2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GLT8D2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GLT8D2 
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    miRNA
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    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLT8D2


    (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 GLT8D2

    (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 GLT8D2 (GL8D2)

    Search CenterWatch for drugs/clinical trials and news about GLT8D2 / GL8D2

    (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 GLT8D2 gene: 
    NM_031302.3  

    Unigene Cluster for GLT8D2:

    Glycosyltransferase 8 domain containing 2
    Hs.631650  [show with all ESTs]
    Unigene Representative Sequence: BC022343
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360814(uc001tkh.1) ENST00000546436 ENST00000548660(uc001tki.1)
    ENST00000552572 ENST00000550816 ENST00000546851 ENST00000547583
    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate GLT8D2
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GLT8D2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GLT8D2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GLT8D2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GLT8D2

    Additional mRNA sequence: 

    AJ271711.1 AK027310.1 AK056056.1 AY358763.1 BC022343.1 

    7 DOTS entries:

    DT.95162104  DT.313550  DT.100842158  DT.86853213  DT.97813649  DT.121182934  DT.99990959 

    24/98 AceView cDNA sequences (see all 98):

    AI811279 AW771527 BQ446695 W63754 AJ271711 CD677861 CD678377 CD245366 
    AI174562 AK056056 CF528914 AA029495 CA394826 CA413973 BF055983 AW241208 
    BM991901 AA633457 AI498451 CB268321 AI393973 CA411729 BQ575702 AI288650 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GLT8D2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11
    SP1:                                                              -               
    SP2:              -                                               -               
    SP3:                                                                              


    ECgene alternative splicing isoforms for GLT8D2

    (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

    GLT8D2 expression in normal human tissues (normalized intensities)      GLT8D2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGATCTCCT
    GLT8D2 Expression
    About this image


    GLT8D2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             corneal epithelial basal cells   
     
     Epithelium (Uncategorized)    fully expand to see all 2 entries
             corneal epithelial basal cells   
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Heart (Cardiovascular System)

    See GLT8D2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GLT8D2

    SOURCE GeneReport for Unigene cluster: Hs.631650
        SABiosciences Custom PCR Arrays for GLT8D2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLT8D2

    (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 eukaryotes.

    Orthologs for GLT8D2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Glt8d21 , 5 glycosyltransferase 8 domain containing 21, 5 87.26(n)1
    92.53(a)1
      10 (39.72 cM)5
    747821  NM_029102.31  NP_083378.21 
     826504335 
    chicken
    (Gallus gallus)
    Aves GLT8D21 glycosyltransferase 8 domain containing 2 78.29(n)
    82.27(a)
      418085  XM_416320.3  XP_416320.3 
    lizard
    (Anolis carolinensis)
    Reptilia GLT8D26
    Uncharacterized protein
    79(a)
    1 ↔ 1
    5(18205420-18221806)
    zebrafish
    (Danio rerio)
    Actinopterygii glt8d21 glycosyltransferase 8 domain containing 2 65.12(n)
    62.9(a)
      567942  NM_001039931.1  NP_001035020.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GATL41 putative galacturonosyltransferase-like 4 45(n)
    29.69(a)
      819800  NM_111501.2  NP_187277.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g06468001 hypothetical protein 42.65(n)
    30.31(a)
      4344105  NM_001067000.1  NP_001060465.1 


    ENSEMBL Gene Tree for GLT8D2 (if available)
    TreeFam Gene Tree for GLT8D2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GLT8D2 gene
    GLT8D12  
    18/92 SIMAP similar genes for GLT8D2 using alignment to 3 protein entries:     GL8D2_HUMAN (see all proteins) (see all similar genes):
    MYCBPAP    FOPNL    GAB3    VPS33A    C4orf22    KLHL2
    SHANK2    TMEM44    GLT8D1    UTY    ATP6V0A1    C10orf137
    KNSTRN    MMP13    MYB    POTEH    POTEM    QRICH2

    GLT8D2 for paralogs           About GeneDecksing



    (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

    10/1409 SNPs in GLT8D2 are shown (see all 1409)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496801291,2
    C--104383382(+) AATAAC/TAGGCT 1 -- int10--------
    rs41351501,2
    C,F,H--104383599(+) CAAAAT/CAGAGC 1 -- int114Minor allele frequency- C:0.15NS EA NA 1502
    rs1455236781,2
    C--104383708(+) TGTGGA/GTTTAC 1 -- int10--------
    rs1860068441,2
    --104383797(+) ATCCTA/GTTATT 1 -- int10--------
    rs24641261,2
    C,F,A--104383911(+) TATATC/ATGTAG 1 -- int14Minor allele frequency- A:0.15NA WA CSA 125
    rs26297881,2
    H--104383930(+) ATTGTA/GGGTGG 1 -- int14Minor allele frequency- G:0.00NS EA 404
    rs26297901,2
    H--104383947(+) TATATT/AGAAGG 1 -- int14Minor allele frequency- A:0.00NS EA 412
    rs1997068851,2
    C--104384010(+) TCTAT-/TAATTTCC 1 -- int10--------
    rs25832761,2
    H--104384101(-) CAAGAC/GTGTTC 1 -- int14Minor allele frequency- G:0.00NS EA 414
    rs25832751,2
    H--104384146(-) GCTGTT/GTGTTT 1 -- int14Minor allele frequency- G:0.00NS EA 402

    HapMap Linkage Disequilibrium report for GLT8D2 (104382762 - 104457961 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GLT8D2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2746312CNV Deletion23290073
    esv2746311CNV Deletion23290073

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GLT8D2
    DNA2.0 Custom Variant and Variant Library Synthesis for GLT8D2

    (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

    GLT8D2 for disorders           About MalaCards

    GLT8D2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GLT8D2
    Human Genome Epidemiology (HuGE) Navigator: GLT8D2 (1 document)

    Export disorders for GLT8D2 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 GLT8D2 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with GLT8D2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. Genome-wide association analyses identify multiple loc i associated with central corneal thickness and keratoconus. (PubMed id 23291589)1 Lu Y....Wong T.Y. (2013)
    6. Genome-wide association study identifies variants asso ciated with progression of liver fibrosis from HCV infection. (PubMed id 22841784)1 Patin E.... . (2012)
    7. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    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. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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)
    About This Section
    Entrez Gene: 83468 HGNC: 24890 AceView: LOC83468 Ensembl:ENSG00000120820 euGenes: HUgn83468
    ECgene: GLT8D2 H-InvDB: GLT8D2

    (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 GLT8D2 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 GLT8D2 gene:
    Search GeneIP for patents involving GLT8D2

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



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