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

APOL3 Gene

protein-coding   GIFtS: 56
GCID: GC22M036536

apolipoprotein L, 3

 Explore 5 diseases affiliated with
APOL3 via our new
 Human Malady Compendium 
Biological research products
for APOL3
    

(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
Apolipoprotein L, 31 2     CG12-11
APOLIII1 2     CG1212
Apolipoprotein L-III2 3     ApoL-III3
CG12_12 3     Apolipoprotein L32
TNF-Inducible Protein CG12-12 3     ApoL-III3

External Ids:    HGNC: 148681   Entrez Gene: 808332   Ensembl: ENSG000001282847   OMIM: 6072535   UniProtKB: O952363   
ORGUL members:         
NONCODE:n408045    

Export aliases for APOL3 gene to outside databases

Previous GC identifers: GC22M033179 GC22M034808 GC22M034860 GC22M019504


(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 APOL3:
This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on
chromosome 6. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including
cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by
tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jun 2009)

UniProtKB/Swiss-Prot: APOL3_HUMAN, O95236
Function: May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles

Gene Wiki entry for APOL3


(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_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APOL3 gene promoter:
         FOXO4   Msx-1   En-1   C/EBPalpha   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APOL3 promoter sequence
   Search SABiosciences Chromatin IP Primers for APOL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APOL3


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

APOL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOL3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M036536:  view genomic region     (about GC identifiers)

Start:
36,536,371 bp from pter      End:
36,562,225 bp from pter
Size:
25,855 bases      Orientation:
minus 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: APOL3_HUMAN, O95236 (See protein sequence)
Recommended Name: Apolipoprotein L3  
Size: 402 amino acids; 44278 Da
Subcellular location: Cytoplasm (Probable)
Secondary accessions: B1AHI4 B1AHI5 Q5U5N4 Q9BQ82 Q9BQA3
Alternative splicing: 3 isoforms:  O95236-1   O95236-2   O95236-3   

Explore the universe of human proteins at neXtProt for APOL3: NX_O95236

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95236

  • APOL3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_663615.1  NP_663616.1  NP_663617.1  

    ENSEMBL proteins: 
     ENSP00000344577   ENSP00000416732   ENSP00000409345   ENSP00000380457   ENSP00000355164  
     ENSP00000380456   ENSP00000433618   ENSP00000391174   ENSP00000434449   ENSP00000436331  
     ENSP00000435958   ENSP00000432868   ENSP00000432271   ENSP00000380461   ENSP00000415779  

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    Uscn Proteins for APOL3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--


    APOL3 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

    APOL3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008405 ApoL

    Graphical View of Domain Structure for InterPro Entry O95236

    ProtoNet protein and cluster: O95236

    1 Blocks protein family: IPB008405 Apolipoprotein L

    UniProtKB/Swiss-Prot: APOL3_HUMAN, O95236
    Similarity: Belongs to the apolipoprotein L 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: APOL3_HUMAN, O95236
    Function: May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles
    Induction: In vitro, is responsive to TNF

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0005319lipid transporter activity TAS10233894
    GO:0008289lipid binding IEA--


    APOL3 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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
    Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for APOL3
        Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for APOL3

    1 Interacting protein for APOL3 (O952362) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --Q777C42MINT-6770331
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport ----
    GO:0006954inflammatory response TAS10233894
    GO:0007165signal transduction IMP12761501
    GO:0042157lipoprotein metabolic process IEA--
    GO:0043123positive regulation of I-kappaB kinase/NF-kappaB cascade IMP12761501


    APOL3 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 APOL3
    Search CenterWatch for drugs/clinical trials and news about APOL3 

    (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 APOL3 gene (6 alternative transcripts): 
    NM_145640.2  NM_145641.2  NM_145642.2  NM_014349.2  NM_030644.1  NM_145639.1  

    Unigene Cluster for APOL3:

    Apolipoprotein L, 3
    Hs.474737  [show with all ESTs]
    Unigene Representative Sequence: NM_145641
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000349314 ENST00000432700(uc003aor.3) ENST00000422426(uc003aoq.3)
    ENST00000397289 ENST00000361710(uc003aov.3) ENST00000397287(uc003aou.3)
    ENST00000487355 ENST00000487423 ENST00000426939 ENST00000534251 ENST00000531195
    ENST00000487783 ENST00000525184 ENST00000485453 ENST00000530895 ENST00000472303
    ENST00000531095 ENST00000528740

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    Additional cDNA sequence: 

    AF070675.1 AF305227.1 AK025349.1 AK297892.1 AY014902.1 AY014903.1 AY014904.1 AY014905.1 
    AY014906.1 AY014907.1 BC038352.1 BC042918.1 BC050596.1 BC070144.1 CR456379.1 NR_027833.1 
    NR_027834.1 NR_027835.1 

    19 DOTS entries:

    DT.100777098  DT.95169380  DT.87016898  DT.100777094  DT.95169379  DT.100709432  DT.100777099  DT.95169376 
    DT.120660137  DT.95169384  DT.120660102  DT.95361989  DT.99950911  DT.120660114  DT.120660116  DT.120660127 
    DT.120660179  DT.91956193  DT.95318086 

    24/158 AceView cDNA sequences (see all 158):

    BF939965 D79790 AK025349 NM_145642 NM_145641 AY014907 AA934918 BU584115 
    NM_145639 BU730739 BU584070 BC042918 AW002766 NM_014349 BQ706821 AY014905 
    CB529132 AY014903 BE513258 AA025905 NM_030644 BI061454 AA370489 BI063084 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for APOL3 (see all 15)    About this scheme

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


    ECgene alternative splicing isoforms for APOL3

    (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

    APOL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCATTGTCC

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

    About this image

    APOL3 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
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See APOL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APOL3

    SOURCE GeneReport for Unigene cluster: Hs.474737

    UniProtKB/Swiss-Prot: APOL3_HUMAN, O95236
    Tissue specificity: Widely expressed; the highest levels are in prostate, lung and placenta; also detected in kidney,
    bone marrow, spleen, thymus, spinal cord, adrenal gland, salivary gland, trachea and mammary gland; levels are low in
    brain, heart, fetal liver, pancreas and testis

        SABiosciences Expression via Pathway-Focused PCR Array including APOL3: 
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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 chordates.

    Orthologs for APOL3 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    48(a)
    37(a)
    many ↔ many
    many ↔ many
    5(21779188-21779424)
    5(21749807-21750637)


    ENSEMBL Gene Tree for APOL3 (if available)
    TreeFam Gene Tree for APOL3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for APOL3 gene
    APOL41 2  APOL62  APOL22  APOL52  APOL12  APOLD12  
    5 SIMAP similar genes for APOL3 using alignment to 9 protein entries:     APOL3_HUMAN (see all proteins):
    APOL4    APOL2    APOL1    APOL6    ApoL6

    APOL3 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

    10/621 NCBI SNPs in APOL3 are shown (see all 621    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1475640891,2
    --36535891(+) ATTGGC/TGCCAT 6 -- ds50010--------
    rs1827227541,2
    --36536111(+) CAGGCC/GTGAGC 6 -- ds50010--------
    rs774764921,2
    C,F,--36536144(+) TTTTTC/TTTCAC 6 -- ds50011Minor allele frequency- T:0.12WA 118
    rs1176848541,2
    F,--36536305(+) AAAAAC/TTTCAG 6 -- ds50011Minor allele frequency- T:0.07EA 120
    rs1885903881,2
    --36536314(+) AGACAA/GGAACT 6 -- ds50010--------
    rs1929531361,2
    --36536315(+) GACAGA/GAACTT 6 -- ds50010--------
    rs1840275951,2
    --36536366(+) CTCGAA/GTAAGT 6 -- ds50010--------
    rs1886245321,2
    --36536372(+) TAAGTC/GCAGCT 6 -- nc-transcript-variantut310--------
    rs734196841,2
    C,--36536442(+) AGATCC/TGGCCT 6 -- nc-transcript-variantut312Minor allele frequency- T:0.06WA 120
    rs96223321,2
    H--36536454(+) ccccaG/Atctct 6 -- nc-transcript-variantut31 ese34Minor allele frequency- A:0.00NS EA 420

    HapMap Linkage Disequilibrium report for APOL3 (36536371 - 36562225 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for APOL3
         1 CNV: 9334
    Human Gene Mutation Database (HGMD): APOL3

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    APOL3 for disorders           About GeneDecksing

    OMIM gene information: 607253    OMIM disorders: --

    5 diseases for APOL3:    About MalaCards
    cholesterol    hepatitis b    hepatitis    schizophrenia
    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: APOL3 (5 documents)

    Export disorders for APOL3 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)
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    PubMed articles for APOL3 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with APOL3)
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    1. The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. (PubMed id 11374903)1, 2, 3 Page N.M....Lowry P.J. (2001)
    2. Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. (PubMed id 11290834)1, 2, 9 Duchateau P.N.... Kane J.P. (2001)
    3. Vascular endothelial genes that are responsive to tumor necrosis factor-alpha in vitro are expressed in atherosclerotic lesions, including inhibitor of apoptosis protein-1, stannin, and two novel genes. (PubMed id 10233894)1, 2, 9 Horrevoets A.J.G.... Pannekoek H. (1999)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    6. The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue. (PubMed id 11944986)1, 9 Monajemi H.... Horrevoets A.J.G. (2002)
    7. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
    8. Family-based association analysis of 42 hereditary pr ostate cancer families identifies the Apolipoprotein L3 region on chromosome 22 q12 as a risk locus. (PubMed id 20631155)1 Johanneson B....Ostrander E.A. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1 RuaA+o G....Wu A.H. (2010)

    (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)
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    Entrez Gene: 80833 HGNC: 14868 AceView: APOL3 Ensembl:ENSG00000128284 euGenes: HUgn80833
    ECgene: APOL3 H-InvDB: APOL3

    (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 APOL3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for APOL3 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 APOL3 gene:
    Search GeneIP for patents involving APOL3

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



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