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

SZT2 Gene

protein-coding   GIFtS: 39
GCID: GC01P043890

seizure threshold 2 homolog (mouse)

(Previous names: chromosome 1 open reading frame 84, KIAA0467 )
(Previous symbols: C1orf84, KIAA0467)
 Explore 1 disease affiliated with
SZT2 via our new
 Human Malady Compendium 
Biological research products
for SZT2
    

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

Aliases
Seizure Threshold 2 Homolog (Mouse)1 2     FLJ103871
C1orf841 2 3     FLJ345021
KIAA04671 2 3     RP11-506B15.11
SZT2A1 2     Chromosome 1 Open Reading Frame 841
SZT2B1 2     RP11-506B15.32
Seizure Threshold 2 Protein Homolog2 3     Protein SZT22

External Ids:    HGNC: 290401   Entrez Gene: 233342   Ensembl: ENSG000001981987   UniProtKB: Q5T0113   

Export aliases for SZT2 gene to outside databases


(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 SZT2:
The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as
in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It
likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in
mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. (provided by RefSeq, Jun
2011)

UniProtKB/Swiss-Prot: SZT2_HUMAN, Q5T011
Function: Involved in oxidative stress. May be involved in superoxide dismutase activity and in neuroprotective effect
of peroxisomes, but has no direct dismutase activity when tested in yeast. May enhance epileptogenesis and confer low
seizure threshold (By similarity)




(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SZT2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SZT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SZT2


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

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

SZT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SZT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P043890:  view genomic region     (about GC identifiers)

Start:
43,855,553 bp from pter      End:
43,918,321 bp from pter
Size:
62,769 bases      Orientation:
plus 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: SZT2_HUMAN, Q5T011 (See protein sequence)
Recommended Name: Protein SZT2  
Size: 3432 amino acids; 378029 Da
Subcellular location: Peroxisome (By similarity)
Sequence caution: Sequence=AAH52802.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI51233.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15649.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC03755.1; Type=Miscellaneous
discrepancy; Note=Probable cloning artifact; Sequence=BAC86771.1; Type=Miscellaneous discrepancy; Note=Probable
cloning artifact; Sequence=BF926328; Type=Frameshift; Positions=Several; Sequence=BF926328; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=BU101724;
Type=Frameshift; Positions=287; Sequence=CAI14886.2; Type=Erroneous gene model prediction; Sequence=CAI23384.1;
Type=Erroneous gene model prediction;
Secondary accessions: A0PJK5 A7E2X4 O75055 Q5JUY7 Q5T012 Q5XKC7 Q6ZNI8 Q6ZT24 Q7Z636 Q8NAY9 Q9H5H7
Q9UFQ8
Alternative splicing: 4 isoforms:  Q5T011-1   Q5T011-4   Q5T011-5   Q5T011-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SZT2: NX_Q5T011

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T011

  • SZT2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056099.3  
    ENSEMBL proteins: 
     ENSP00000361528   ENSP00000386070   ENSP00000457168   ENSP00000312234   ENSP00000361519  

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    Uscn Proteins for SZT2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005777peroxisome IEA--


    SZT2 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q5T011


    (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: SZT2_HUMAN, Q5T011
    Function: Involved in oxidative stress. May be involved in superoxide dismutase activity and in neuroprotective effect
    of peroxisomes, but has no direct dismutase activity when tested in yeast. May enhance epileptogenesis and confer low
    seizure threshold (By similarity)

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    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): SZT2 3' UTR sequence
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    SZT2 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for SZT2:
     Downregulation of NF-kappaB pa  Increased number of cells in m 

    Animal Models:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Szt2):
     behavior/neurological  integument  mortality/aging  nervous system  pigmentation 

    SZT2 for phenotypes           About GeneDecksing


    (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 SZT2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    SZT2 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 SZT2
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    (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,
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    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 SZT2 gene (4 alternative transcripts): 
    NM_015284.3  NM_001012960.1  NM_001012961.1  NM_182518.2  

    Unigene Cluster for SZT2:

    Seizure threshold 2 homolog (mouse)
    Hs.643560  [show with all ESTs]
    Unigene Representative Sequence: NM_015284
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372450(uc001cjh.3) ENST00000357658 ENST00000406439(uc001cji.1)
    ENST00000562955(uc009vws.1 uc001cjk.2) ENST00000470139 ENST00000478140
    ENST00000470897 ENST00000471177 ENST00000460536(uc001cjl.2) ENST00000310739
    ENST00000372442

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    hsa-miR-485-5p hsa-miR-642a hsa-miR-516b hsa-miR-1291 hsa-miR-9 hsa-miR-2355-5p hsa-miR-491-5p hsa-miR-1910
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): SZT2 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB007936.2 AK001249.2 AK027078.1 AK126972.1 AL117402.1 BC017576.1 BC041069.1 BC051343.1 
    BC052802.1 BC082968.1 BC151232.1 

    20 DOTS entries:

    DT.92447357  DT.75101610  DT.75101209  DT.40197185  DT.92068022  DT.100014434  DT.40257700  DT.100783170 
    DT.92447359  DT.100774763  DT.121362202  DT.121362286  DT.91687161  DT.91731911  DT.91745030  DT.95266778 
    DT.102842726  DT.95238919  DT.95266780  DT.99930908 

    24/227 AceView cDNA sequences (see all 227):

    AU124431 BX112506 AA731490 BU527625 BC051343 BC052802 AK027078 BU528173 
    AA938452 BQ943916 AI657111 AI701486 BI003868 BM562023 BM453693 AB007936 
    BQ952043 AL117402 BU622383 BX500023 AW674579 AW196912 BC041069 C15468 

    GeneLoc Exon Structure

    5/19 Alternative Splicing Database (ASD) splice patterns (SP) for SZT2 (see all 19)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31a · 31b · 31c ^ 32a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 32b ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36 ^ 37
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for SZT2

    (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

    SZT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTACTGGCAT

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

    About this image
    See SZT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SZT2

    SOURCE GeneReport for Unigene cluster: Hs.643560

    UniProtKB/Swiss-Prot: SZT2_HUMAN, Q5T011
    Tissue specificity: Expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root
    ganglia

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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 SZT2 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Szt21 , 5 seizure threshold 21, 5 87.4(n)1
    91.97(a)1
      4 (54.61 cM)5
    2306761  NM_198170.41  NP_937813.31 
     1183627435 
    chicken
    (Gallus gallus)
    Aves SZT26
    Uncharacterized protein
    82(a)
    1 ↔ 1
    8(20422569-20428147)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5719861 protein SZT2-like 58.66(n)
    55.39(a)
      571986  XM_695635.5  XP_700727.5 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    39(a)
    1 ↔ 1
    GroupUn.4655(1298-3562)


    ENSEMBL Gene Tree for SZT2 (if available)
    TreeFam Gene Tree for SZT2 (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

    10/1129 NCBI SNPs in SZT2 are shown (see all 1129    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1390271711,2
    C,F,other55876785(+) GCCCCC/TGGGAG 2 P L mis12Minor allele frequency- T:0.00NA EU 5875
    rs2004538521,2
    Cother55876791(+) TGTGTC/G/TGCCCC 3 S W L mis11EU 1315
    rs412703471,2
    C,F,--41973525(+) NNNNAC/TTCCCT 1 -- us2k11Minor allele frequency- T:0.07NA 120
    rs606790571,2
    C--41973899(+) AAAAAC/TAAAAA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1121367751,2
    --41974111(+) ATTATA/CAGCTG 1 -- us2k12Minor allele frequency- C:0.02CSA WA 120
    rs14139361,2
    C,H,--41974404(+) CGCCGC/TTCCCG 1 -- us2k15Minor allele frequency- T:0.00MN NS EA 600
    rs1160041961,2
    C,F,--41974626(+) GCAAAC/TGCCTA 1 -- us2k12Minor allele frequency- T:0.03NA EU 690
    rs775972241,2
    C,F,--41974664(+) AACTGG/AAACTC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs8397521,2
    C,F,A,H,--41974682(+) CCACCA/GACTTC 1 -- us2k120Minor allele frequency- G:0.24MN NS EA NA CSA WA 2527
    rs8397541,2
    C,F,O,A,H,--41975046(+) TGTCAC/TCCGCG 1 -- int120Minor allele frequency- T:0.25MN NA NS EA WA CSA 1515

    HapMap Linkage Disequilibrium report for SZT2 (43855553 - 43918321 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SZT2: --

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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

    SZT2 for disorders           About GeneDecksing

    1 disease for SZT2:    About MalaCards
    seizures


    Export disorders for SZT2 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 SZT2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with SZT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2, 3 Seki N.... Ohara O. (1997)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Bridging expressed sequence alignments through targeted cDNA sequencing. (PubMed id 15028280)1, 2 Xie H....Gill-More R. (2004)
    6. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1, 2 Dias Neto E....Simpson A.J.G. (2000)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. A novel giant peroxisomal superoxide dismutase motif- containing protein. (PubMed id 20045724)2 Toutzaris D....Methner A. (2010)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. Evidence for distinct functions for human DNA repair factors hHR23A and hHR23B. (PubMed id 16712842)1 Chen L. and Madura K. (2006)

    (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: 23334 HGNC: 29040 AceView: KIAA0467 Ensembl:ENSG00000198198 euGenes: HUgn23334
    ECgene: SZT2 H-InvDB: SZT2

    (According to HUGE)
    About This Section
    HUGE: KIAA0467

    (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 SZT2 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 SZT2 gene:
    Search GeneIP for patents involving SZT2

    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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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