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

AGXT2L1 Gene

protein-coding   GIFtS: 56
GCID: GC04M109663

alanine-glyoxylate aminotransferase 2-like 1

 Explore 4 diseases affiliated with
AGXT2L1 via our new
 Human Malady Compendium 
Biological research products
for AGXT2L1
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Alanine-Glyoxylate Aminotransferase 2-Like 11 2     EC 2.6.18
Alanine--Glyoxylate Aminotransferase 2-Like 12 3     EC 2.6.1.118
Ethanolamine-Phosphate Phospho-Lyase2     EC 2.6.1.448
EC 4.2.3.23     

External Ids:    HGNC: 144041   Entrez Gene: 648502   Ensembl: ENSG000001640897   OMIM: 6146825   UniProtKB: Q8TBG43   
ORGUL members:         
NONCODE:n407910 n407909    

Export aliases for AGXT2L1 gene to outside databases

Previous GC identifers: GC04M110090 GC04M109984 GC04M110122 GC04M110020 GC04M109882 GC04M105395


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

UniProtKB/Swiss-Prot: AT2L1_HUMAN, Q8TBG4
Function: Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia,
inorganic phosphate and acetaldehyde




(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_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AGXT2L1 gene promoter:
         Max1   FOXF2   AML1a   HNF-4alpha2   HNF-4alpha1   Nkx6-1   FOXO1a   Msx-1   c-Myc   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGXT2L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AGXT2L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGXT2L1


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

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25

AGXT2L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGXT2L1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M109663:  view genomic region     (about GC identifiers)

Start:
109,663,196 bp from pter      End:
109,684,235 bp from pter
Size:
21,040 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

  • n407909
  • n407910
109663201 109673718 109684235 chr4

(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: AT2L1_HUMAN, Q8TBG4 (See protein sequence)
Recommended Name: Ethanolamine-phosphate phospho-lyase  
Size: 499 amino acids; 55671 Da
Cofactor: Pyridoxal phosphate
Subunit: Homotetramer (By similarity)
Subcellular location: Mitochondrion (Potential)
Caution: Does not seem to possess aminotransferase activity (PubMed:22241472)
Secondary accessions: B7Z1Y0 E9PBY0 Q9H174
Alternative splicing: 3 isoforms:  Q8TBG4-1   Q8TBG4-2   Q8TBG4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AGXT2L1: NX_Q8TBG4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TBG4

  • 4/11 DME Specific Peptides for AGXT2L1 (Q8TBG4) (see all 11)
     HIGPSCK  GMEYFNT  GPSCKVFF  IKPPMCFT 

    AGXT2L1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001140062.1  NP_001140099.1  NP_112569.2  

    ENSEMBL proteins: 
     ENSP00000296486   ENSP00000392269   ENSP00000427065   ENSP00000423240   ENSP00000422050  
     ENSP00000426871   ENSP00000421217   ENSP00000426525  

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    Uscn Proteins for AGXT2L1

    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:0005739mitochondrion IEA--


    AGXT2L1 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

    AGXT2L1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR005814 Aminotrans_3
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1
     IPR015422 PyrdxlP-dep_Trfase_major_sub2

    Graphical View of Domain Structure for InterPro Entry Q8TBG4

    ProtoNet protein and cluster: Q8TBG4

    1 Blocks protein family: IPB005814 Aminotransferase class-III

    UniProtKB/Swiss-Prot: AT2L1_HUMAN, Q8TBG4
    Similarity: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family


    (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: AT2L1_HUMAN, Q8TBG4
    Function: Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia,
    inorganic phosphate and acetaldehyde
    Catalytic activity: Ethanolamine phosphate + H(2)O = acetaldehyde + NH(3) + phosphate
    Biophysicochemical properties: Kinetic parameters: KM=680 uM for phosphoethanolamine (at pH 7.4); Vmax=1.46 umol/min/mg
    enzyme (at pH 7.4);

    Enzyme Numbers (IUBMB): EC 2.6.12 EC 2.6.1.112 EC 2.6.1.442 EC 4.2.3.21

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008453alanine-glyoxylate transaminase activity NAS--
    GO:0008483transaminase activity ----
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0050459ethanolamine-phosphate phospho-lyase activity IEA--


    AGXT2L1 for ontologies           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 AGXT2L1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for AGXT2L1 (Q8TBG43 ENSP000002964864) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SGTAO437653I2D: score=4 
    PIH1D1Q9NWS03I2D: score=3 
    WNK1Q9H4A33I2D: score=2 
    DMAP1ENSP000003126974STRING: ENSP00000312697
    MRGBPENSP000003595184STRING: ENSP00000359518
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process NAS--


    AGXT2L1 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
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    Browse Tocris compounds for AGXT2L1

    1 HMDB Compound for AGXT2L1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Search CenterWatch for drugs/clinical trials and news about AGXT2L1 / AT2L1 

    (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 AGXT2L1 gene (3 alternative transcripts): 
    NM_001146590.1  NM_001146627.1  NM_031279.3  

    Unigene Cluster for AGXT2L1:

    Alanine-glyoxylate aminotransferase 2-like 1
    Hs.106576  [show with all ESTs]
    Unigene Representative Sequence: NR_027474
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296486(uc010imc.3 uc011cfm.2 uc003hzc.3 uc011cfn.2 uc011cfo.2)
    ENST00000411864 ENST00000512646 ENST00000510706 ENST00000503912 ENST00000505233
    ENST00000511923 ENST00000509402 ENST00000512320 ENST00000510723

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    Additional cDNA sequence: 

    AJ298293.1 AK091888.1 AK294072.1 AK294235.1 BC022526.1 NR_027474.1 NR_027475.1 

    4 DOTS entries:

    DT.91672006  DT.100748207  DT.91866197  DT.91672015 

    24/36 AceView cDNA sequences (see all 36):

    Z42023 CD676782 AX747236 NM_031279 BF431498 AK091888 BC022526 CD677146 
    BG709088 BG545357 AI767614 BI604180 CF456548 BG715874 BI598020 AI497937 
    AA018867 BI596418 BI598678 CK005072 BI667837 AA019175 AI631883 BX111151 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AGXT2L1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for AGXT2L1

    (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

    AGXT2L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTAATGTG

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

    About this image

    AGXT2L1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Primitive gut tube-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AGXT2L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AGXT2L1

    SOURCE GeneReport for Unigene cluster: Hs.106576
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    In Situ
    Assay Products:
     

     
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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 last universal common ancestor (LUCA).

    Orthologs for AGXT2L1 gene from 9/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AGXT2L11 alanine-glyoxylate aminotransferase 2-like 1 72.41(n)
    73.55(a)
      428743  XM_426301.3  XP_426301.3 
    lizard
    (Anolis carolinensis)
    Reptilia AGXT2L16
    --
    73(a)
    1 ↔ 1
    5(145031745-145048404)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.211312 Xenopus laevis transcribed sequence with weak similarity more 78.86(n)    CF547531.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc634862 hypothetical protein MGC63486 74.06(n)   393421  BC055122.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87451 , 3 ornithine-oxo-acid aminotransferase3
    CG87451
    55(a)3
    57.69(n)1
    57.01(a)1
      395301  NM_140408.21  NP_648665.11 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_T01B11.21 Protein T01B11.2 55.25(n)
    49.77(a)
      177646  NM_001028175.3  NP_001023346.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GSA26
    GSA16
    glutamate-1-semialdehyde-2,1-aminomutase
    17(a)
    16(a)
    possible ortholog
    possible ortholog
    3(18049614-18051702)
    5(25451875-25453841)
    rice
    (Oryza sativa)
    Liliopsida --
    aminotransferase, putative, expressed
    16(a)
    possible ortholog
    8(26528677-26531360)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria hemL6
    glutamate-1-semialdehyde aminotransferase (aminomu...
    18(a)
    possible ortholog
    Chromosome(173602-174882)


    ENSEMBL Gene Tree for AGXT2L1 (if available)
    TreeFam Gene Tree for AGXT2L1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AGXT2L1 gene
    AGXT2L22  AGXT22  
    2 SIMAP similar genes for AGXT2L1 using alignment to 6 protein entries:     AT2L1_HUMAN (see all proteins):
    AGXT2L2    AGXT2

    AGXT2L1 for paralogs           About GeneDecksing



    (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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for AGXT2L1
         3 Indels: 12513 12512 12514
    Human Gene Mutation Database (HGMD): AGXT2L1
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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

    AGXT2L1 for disorders           About GeneDecksing

    OMIM gene information: 614682    OMIM disorders: --

    4 diseases for AGXT2L1:    About MalaCards
    alcohol dependence    alcoholism    tuberculosis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: AGXT2L1 (1 document)

    Export disorders for AGXT2L1 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 AGXT2L1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with AGXT2L1)
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    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Molecular cloning and sequencing of a cDNA encoding alanine- glyoxylate aminotransferase 2 from rat kidney. (PubMed id 7592550)2, 3 Matsui-Lee I.S.... Kido R. (1995)
    3. Molecular identification of hydroxylysine kinase and o f ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolami ne. (PubMed id 22241472)2 Veiga-da-Cunha M....Van Schaftingen E. (2012)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1 Kalsi G....Riley B.P. (2010)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    8. 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)
    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)

    (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: 64850 HGNC: 14404 AceView: AGXT2L1 Ensembl:ENSG00000164089 euGenes: HUgn64850
    ECgene: AGXT2L1 H-InvDB: AGXT2L1

    (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 AGXT2L1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AGXT2L1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AGXT2L1 gene:
    Search GeneIP for patents involving AGXT2L1

    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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