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

KATNAL2 Gene

protein-coding   GIFtS: 51
GCID: GC18P044526

Katanin P60 Subunit A-Like 2

  See related disease
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
Katanin P60 Subunit A-Like 21 2 3
P60 Katanin-Like 22 3
EC 3.6.4.33 8
Katanin P60 ATPase-Containing Subunit A-Like 22

External Ids:    HGNC: 253871   Entrez Gene: 834732   Ensembl: ENSG000001672167   OMIM: 6146975   UniProtKB: Q8IYT43   

Export aliases for KATNAL2 gene to outside databases

Previous GC identifers: GC18P042781 GC18U900248 GC18P041427


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

GeneCards Summary for KATNAL2 Gene: 
KATNAL2 (katanin p60 subunit A-like 2) is a protein-coding gene. Diseases associated with KATNAL2 include tinea capitis. GO annotations related to this gene include ATP binding and microtubule-severing ATPase activity. An important paralog of this gene is VPS4B.

UniProtKB/Swiss-Prot: KATL2_HUMAN, Q8IYT4
Function: Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization
of cellular microtubule arrays (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010966.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KATNAL2 gene promoter:
         AP-1   ATF-2   c-Jun   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKATNAL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for KATNAL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KATNAL2


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q21.1

KATNAL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KATNAL2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P044526:  view genomic region     (about GC identifiers)

Start:
44,497,455 bp from pter      End:
44,628,614 bp from pter
Size:
131,160 bases      Orientation:
plus 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: KATL2_HUMAN, Q8IYT4 (See protein sequence)
Recommended Name: Katanin p60 ATPase-containing subunit A-like 2  
Size: 538 amino acids; 61253 Da
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
Sequence caution: Sequence=BI560635; Type=Frameshift; Positions=183, 188, 200, 203;
Alternative splicing: 2 isoforms:  Q8IYT4-1   Q8IYT4-2   

Explore the universe of human proteins at neXtProt for KATNAL2: NX_Q8IYT4

Explore proteomics data for KATNAL2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IYT4

  • 3 DME Specific Peptides for KATNAL2 (Q8IYT4)
     RRLEKRI  LAKAVATEC  SKWRGDSEK 

    KATNAL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KATNAL2 Protein Expression
    REFSEQ proteins: NP_112593.2  
    ENSEMBL proteins: 
     ENSP00000467610   ENSP00000466674   ENSP00000245121   ENSP00000348478   ENSP00000464779  
     ENSP00000466302   ENSP00000467488  

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    Cloud-Clone Corp. Proteins for KATNAL2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--

    KATNAL2 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: 
    AATP: ATPases / AAA-type

    5/6 InterPro protein domains (see all 6):
     IPR003959 ATPase_AAA_core
     IPR027497 Katanin_p60_AL2
     IPR006594 LisH_dimerisation
     IPR013720 LisH_dimerisation_subgr
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q8IYT4

    ProtoNet protein and cluster: Q8IYT4

    UniProtKB/Swiss-Prot: KATL2_HUMAN, Q8IYT4
    Similarity: Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. A-like 2 sub-subfamily
    Similarity: Contains 1 LisH domain


    KATNAL2 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KATL2_HUMAN, Q8IYT4
    Function: Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization
    of cellular microtubule arrays (By similarity)
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Number (IUBMB): EC 3.6.4.31 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
    GO:0008568microtubule-severing ATPase activity IEA--
         
    KATNAL2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KATNAL2:
     Increased S DNA content  Synthetic lethal with c-Myc af 

    Animal Models:
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    Inhib. RNA
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    (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 KATNAL2

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

    5 Interacting proteins for KATNAL2 (Q8IYT43 ENSP000002451214) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    MCCP235083, ENSP000003862274I2D: score=1 STRING: ENSP00000386227
    ATG4CQ96DT63I2D: score=1 
    CLN3Q132863I2D: score=1 
    SH3GLB2Q9NR463I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----
    GO:0051013microtubule severing IEA--

    KATNAL2 for ontologies           About GeneDecksing



    (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 KATNAL2 (KATL2)

    Search CenterWatch for drugs/clinical trials and news about KATNAL2 / KATL2

    (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,
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    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 KATNAL2 gene: 
    NM_031303.2  

    Unigene Cluster for KATNAL2:

    Katanin p60 subunit A-like 2
    Hs.404137  [show with all ESTs]
    Unigene Representative Sequence: NM_031303
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592005 ENST00000585469 ENST00000245121(uc010dnq.1 uc002lco.3)
    ENST00000356157 ENST00000585383 ENST00000588433 ENST00000586198 ENST00000591522

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    hsa-miR-532-3p hsa-miR-580 hsa-miR-590-3p hsa-miR-628-5p
    SwitchGear 3'UTR luciferase reporter plasmidKATNAL2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK309134.1 AL512748.1 BC034999.2 

    6 DOTS entries:

    DT.207998  DT.100730586  DT.121083830  DT.95149773  DT.107111  DT.95119220 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KATNAL2    About this scheme

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


    ECgene alternative splicing isoforms for KATNAL2

    (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

    KATNAL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGCCCGTGA
    KATNAL2 Expression
    About this image


    See KATNAL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KATNAL2

    SOURCE GeneReport for Unigene cluster: Hs.404137
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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 eukaryotes.

    Orthologs for KATNAL2 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Katnal21 , 5 katanin p60 subunit A-like 21, 5 84.53(n)1
    86.83(a)1
      18 (52.02 cM)5
    712061  NM_027721.21  NP_081997.11 
     769771485 
    chicken
    (Gallus gallus)
    Aves KATNAL21 katanin p60 subunit A-like 2 73.74(n)
    75.54(a)
      416384  XM_414699.3  XP_414699.3 
    lizard
    (Anolis carolinensis)
    Reptilia KATNAL26
    Uncharacterized protein
    66(a)
    1 ↔ 1
    1(34360070-34387823)
    zebrafish
    (Danio rerio)
    Actinopterygii katnal21 katanin p60 subunit A-like 2 65.22(n)
    71.47(a)
      641431  NM_001037414.1  NP_001032491.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG107931 CG10793 49.2(n)
    41.01(a)
      31308  NM_130698.2  NP_570054.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS46
    AAA-ATPase involved in multivesicular body (MVB) p...
    32(a)
    1 → many
    XVI(886524-887837)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G345601 P-loop containing nucleoside triphosphate hydrolase-like more 55.89(n)
    58.67(a)
      818020  NM_201871.2  NP_973600.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g06735001 hypothetical protein 60.69(n)
    62.13(a)
      4325904  NM_001050368.1  NP_001043833.1 


    ENSEMBL Gene Tree for KATNAL2 (if available)
    TreeFam Gene Tree for KATNAL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KATNAL2 gene
    VPS4B2  ENSG000002609142  KATNAL12  VPS4A2  KATNA12  
    14 SIMAP similar genes for KATNAL2 using alignment to 6 protein entries:     KATL2_HUMAN (see all proteins):
    DKFZp667C165    PSMC1    PSMC3    DKFZp434E0418    KATNA1    VPS4A
    VPS4B    KATNAL1    PSMC5    VCP    PSMC6    ATAD2B
    PSMC2    ATAD1

    KATNAL2 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

    10/1637 SNPs in KATNAL2 are shown (see all 1637)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs359253891,2
    C--41451223(+) ATATA-/TATATAT 1 -- int11Minor allele frequency- TA:0.00NA 2
    rs741720501,2
    C--41451224(+) AAATTAT/-ATATA 1 -- int11Minor allele frequency- -:0.50NA 2
    rs80946541,2
    C,F,A,H--44527397(+) TCACAC/TGAAGA 1 -- int126Minor allele frequency- T:0.42NA NS EA WA CSA 2391
    rs1900120101,2
    --44527547(+) GGGGCC/GGGGGG 1 -- int10--------
    rs729172001,2
    C,F--44527549(+) GGCGGG/TGGGAA 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1144003511,2
    F--44527613(+) GGTTCA/CGAATT 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1823023481,2
    --44527835(+) TGTTGC/TTGCTA 1 -- int10--------
    rs729172021,2
    C,F--44527854(+) CCTCCG/AGATTG 1 -- int11Minor allele frequency- A:0.03NA 120
    rs80953731,2
    C,F,A,H--44527895(+) CTACCC/TGCCTC 1 -- int122Minor allele frequency- T:0.50NS EA NA WA CSA 2245
    rs1851327731,2
    --44527971(+) ACCCCA/CGGGAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for KATNAL2 (44497455 - 44628614 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for KATNAL2 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659165CNV Deletion23128226
    esv2717038CNV Deletion23290073
    esv2717039CNV Deletion23290073
    nsv471406CNV Duplication19718026
    nsv821062CNV Duplication20802225
    nsv2284CNV Insertion18451855
    nsv2280CNV Insertion18451855
    nsv509693CNV Insertion20534489
    nsv2283CNV Insertion18451855
    nsv167CNV Insertion15895083


    Human Gene Mutation Database (HGMD): KATNAL2
    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614697    OMIM disorders: --

    2 diseases for KATNAL2:    About MalaCards
    tinea capitis    

    1 disease from the University of Copenhagen DISEASES database for KATNAL2:
    Tinea capitis

    KATNAL2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KATNAL2
    Human Genome Epidemiology (HuGE) Navigator: KATNAL2 (1 document)

    Export disorders for KATNAL2 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 KATNAL2 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with KATNAL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Meta-analysis of genome-wide association studies for personality. (PubMed id 21173776)1, 4 de Moor M.H....Boomsma D.I. (2010)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Genome-wide methylation profiling identifies hypermeth ylated biomarkers in high-grade cervical intraepithelial neoplasia. (PubMed id 23018867)1 Lendvai A....van der Zee A.G. (2012)
    5. Patterns and rates of exonic de novo mutations in auti sm spectrum disorders. (PubMed id 22495311)1 Neale B.M....Daly M.J. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. 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)
    8. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (2005)
    9. 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)
    10. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83473 HGNC: 25387 Ensembl:ENSG00000167216 euGenes: HUgn83473 ECgene: KATNAL2
    H-InvDB: KATNAL2

    (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 KATNAL2 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 KATNAL2 gene:
    Search GeneIP for patents involving KATNAL2

    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: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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