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

APOL2 Gene

protein-coding   GIFtS: 56
GCID: GC22M036622

apolipoprotein L, 2

 Explore 8 diseases affiliated with
APOL2 via our new
 Human Malady Compendium 
Biological research products
for APOL2
    

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

Aliases
Apolipoprotein L, 21 2
APOL-II1 2
Apolipoprotein L-II2 3
APOL32
Apolipoprotein L22
ApoL-II3

External Ids:    HGNC: 6191   Entrez Gene: 237802   Ensembl: ENSG000001283357   OMIM: 6072525   UniProtKB: Q9BQE53   

Export aliases for APOL2 gene to outside databases

Previous GC identifers: GC22M033265 GC22M034894 GC22M034946 GC22M019590


(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 APOL2:
This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may
affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same
protein have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: APOL2_HUMAN, Q9BQE5
Function: May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles

Gene Wiki entry for APOL2


(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 APOL2 gene promoter:
         Bach1   GR   RREB-1   GR-beta   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APOL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for APOL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APOL2


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

Entrez Gene cytogenetic band: 22q12   Ensembl cytogenetic band:  22q12.3   HGNC chromosome: 22

APOL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOL2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M036622:  view genomic region     (about GC identifiers)

Start:
36,622,255 bp from pter      End:
36,636,000 bp from pter
Size:
13,746 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: APOL2_HUMAN, Q9BQE5 (See protein sequence)
Recommended Name: Apolipoprotein L2  
Size: 337 amino acids; 37092 Da
Subcellular location: Cytoplasm (Probable)
Sequence caution: Sequence=BAD92227.1; Type=Erroneous initiation;
Secondary accessions: B0QYK7 O95915 Q59GW9 Q5TH96 Q969T6 Q9BT28 Q9UGT1 Q9UH10

Explore the universe of human proteins at neXtProt for APOL2: NX_Q9BQE5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BQE5

  • APOL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_112092.1  NP_663612.1  

    ENSEMBL proteins: 
     ENSP00000351292   ENSP00000249066   ENSP00000403153   ENSP00000431231   ENSP00000400486  

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    Uscn Proteins for APOL2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005789endoplasmic reticulum membrane NAS11374903


    APOL2 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

    APOL2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008405 ApoL

    Graphical View of Domain Structure for InterPro Entry Q9BQE5

    ProtoNet protein and cluster: Q9BQE5

    1 Blocks protein family: IPB008405 Apolipoprotein L

    UniProtKB/Swiss-Prot: APOL2_HUMAN, Q9BQE5
    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: APOL2_HUMAN, Q9BQE5
    Function: May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles

         Genatlas biochemistry entry for APOL2:
    apolipoprotein L,2

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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:0005102receptor binding NAS11374903
    GO:0008035high-density lipoprotein particle binding NAS11374903
    GO:0008289lipid binding NAS11374903


    APOL2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for APOL2:
     Decreased Salmonella enterica  


    (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 APOL2
        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 APOL2

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

    3 Interacting proteins for APOL2 (Q9BQE53 ENSP000002490664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102753, ENSP000003638224I2D: score=1 STRING: ENSP00000363822
    PACSIN1Q9BY113I2D: score=2 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process NAS11944986
    GO:0006869lipid transport NAS11374903
    GO:0006953acute-phase response NAS11374903
    GO:0007275multicellular organismal development NAS11374903
    GO:0008203cholesterol metabolic process NAS11374903


    APOL2 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 APOL2
    Search CenterWatch for drugs/clinical trials and news about APOL2 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 APOL2 gene (2 alternative transcripts): 
    NM_030882.2  NM_145637.1  

    Unigene Cluster for APOL2:

    Apolipoprotein L, 2
    Hs.474740  [show with all ESTs]
    Unigene Representative Sequence: AF324224
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358502(uc011amm.2 uc003aoz.3) ENST00000249066(uc003apa.3)
    ENST00000451256 ENST00000529194 ENST00000454728 ENST00000476579 ENST00000489186
    ENST00000473549 ENST00000484830

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    Additional cDNA sequence: 

    AB208990.1 AF305225.1 AF305429.1 AF324223.1 AF324224.1 AK056938.1 AK092839.1 AK303978.1 
    BC004395.1 

    13 DOTS entries:

    DT.91938360  DT.40299557  DT.92008485  DT.427943  DT.95102291  DT.95198024  DT.97797054  DT.70101552 
    DT.100784675  DT.120666326  DT.91852499  DT.95101152  DT.99938944 

    24/164 AceView cDNA sequences (see all 164):

    BU584416 BQ688259 BX115911 BU517088 AL599525 BU584139 AI082211 BU677850 
    NM_145637 AU279422 BQ948529 CR593100 CB108991 CB125020 BF915103 BG743878 
    BU522058 BU584681 BU584676 BU584522 BI547539 CD632856 R80434 AL709165 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for APOL2 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for APOL2

    (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

    APOL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See APOL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APOL2

    SOURCE GeneReport for Unigene cluster: Hs.474740

    UniProtKB/Swiss-Prot: APOL2_HUMAN, Q9BQE5
    Tissue specificity: Widely expressed; the highest levels are found in lung, thymus, pancreas, placenta, adult brain and
    prostate; also detected in spleen, liver, kidney, colon, small intestine, uterus, spinal cord, adrenal gland, salivary
    gland, trachea, mammary gland, skeletal muscle, testis and fetal brain and liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including APOL2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOL2

    (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 APOL2 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 --
    --
    --
    44(a)
    37(a)
    many ↔ many
    many ↔ many
    5(21779188-21779424)
    5(21749807-21750637)


    ENSEMBL Gene Tree for APOL2 (if available)
    TreeFam Gene Tree for APOL2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for APOL2 gene
    APOL42  APOL62  APOL52  APOL12  APOL32  APOLD12  
    5 SIMAP similar genes for APOL2 using alignment to 4 protein entries:     APOL2_HUMAN (see all proteins):
    APOL1    APOL3    APOL4    APOL6    ApoL6

    APOL2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for APOL2
    PGOHUM00000246323 PGOHUM00000250341


    (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

    10/374 NCBI SNPs in APOL2 are shown (see all 374    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1131928711,2
    C,--19590022(+) CAGCTG/TATGAG 2 -- ds50012Minor allele frequency- T:0.05CSA WA 120
    rs22695971,2
    C,H,--19590275(+) CCACCA/GTCACC 2 -- ds50013Minor allele frequency- G:0.04EA NA CSA 1315
    rs1153035151,2
    C,F,--19590497(+) CTTACC/TGGCTA 2 -- ut311Minor allele frequency- T:0.05WA 118
    rs455903381,2
    --19590538(+) TCTCAC/GATACT 2 -- ut310--------
    rs1112520711,2
    C,--19590783(+) ATCACC/TAGGGA 2 -- ut312Minor allele frequency- T:0.04CSA WA 120
    rs1411350931,2
    C,--19590913(+) TCCTGA/GCCTTC 2 -- ut310--------
    rs96195971,2
    C,F,H,,--19590934(+) TTCCTG/TCAAGC 2 -- ut31 ese318Minor allele frequency- T:0.05NS EA NA 1988
    rs108546871,2
    C,F,H,--19592526(+) CAGAGC/ATTTCA 2 -- int110Minor allele frequency- A:0.13NA NS EA WA 566
    rs59952631,2
    C,A,H,--19592568(+) TGGAAT/ATAATT 2 -- int11Minor allele frequency- A:0.00NA 2
    rs59952641,2
    C,F,A,H,--19592574(+) TAATTA/TTCTTT 2 -- int13Minor allele frequency- T:0.33NA CSA 6

    HapMap Linkage Disequilibrium report for APOL2 (36622255 - 36636000 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for APOL2
         1 Inversion: 59779

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    DNA2.0 Custom Variant and Variant Library Synthesis for APOL2

    (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

    APOL2 for disorders           About GeneDecksing

    OMIM gene information: 607252   
    OMIM disorders: 181500  
    8 diseases for APOL2:    About MalaCards
    phencyclidine abuse    velocardiofacial syndrome    peritoneal carcinoma    peritonitis
    cholesterol    schizophrenia    carcinoma    prostatitis

    1 disease from the University of Copenhagen DISEASES database for APOL2:
    Peritoneal carcinoma
    Genetic Association Database (GAD): APOL2
    Human Genome Epidemiology (HuGE) Navigator: APOL2 (3 documents)

    Export disorders for APOL2 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 APOL2 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with APOL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I....O'Brien K.P. (1999)
    3. 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)
    4. Investigation of the apolipoprotein-L (APOL) gene family and schizophrenia using a novel DNA pooling strategy for public database SNPs. (PubMed id 15949655)1, 4 McGhee K.A....Corvin A. (2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue. (PubMed id 11944986)1, 2 Monajemi H.... Horrevoets A.J.G. (2002)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A novel anti-apoptotic role for apolipoprotein L2 in IFN-I^-induced cytotoxicity in human bronchial epithelial cells. (PubMed id 20665705)1 Liao W....Wong W.S. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23780 HGNC: 619 AceView: APOL2 Ensembl:ENSG00000128335 euGenes: HUgn23780
    ECgene: APOL2 H-InvDB: APOL2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for APOL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APOL2 gene:
    Search GeneIP for patents involving APOL2

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