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

APEX2 Gene

protein-coding   GIFtS: 61
GCID: GC0XP055043

APEX Nuclease (Apurinic/Apyrimidinic Endonuclease) 2

  See related diseases
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
APEX Nuclease (Apurinic/Apyrimidinic Endonuclease) 21 2     DNA-(Apurinic Or Apyrimidinic Site) Lyase 22
APE22 3 5     EC 3.1.-.-3
APEXL22 3 5     EC 4.2.99.183
XTH22 3 5     APEX Nuclease 23
AP Endonuclease 22 3     APEX Nuclease-Like 23
AP Endonuclease XTH22 3     Apurinic-Apyrimidinic Endonuclease 23
Apurinic/Apyrimidinic Endonuclease-Like 22     

External Ids:    HGNC: 178891   Entrez Gene: 273012   Ensembl: ENSG000001691887   OMIM: 3007735   UniProtKB: Q9UBZ43   

Export aliases for APEX2 gene to outside databases

Previous GC identifers: GC0XP051878 GC0XP052964 GC0XP053632 GC0XP053993 GC0XP054909 GC0XP052077


(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 APEX2 Gene:
Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging
agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can
prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP
endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a
weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also
present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision
repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
(provided by RefSeq, Nov 2012)

GeneCards Summary for APEX2 Gene: 
APEX2 (APEX nuclease (apurinic/apyrimidinic endonuclease) 2) is a protein-coding gene. Diseases associated with APEX2 include mitochondrial disorders, and multiple sclerosis, and among its related super-pathways are Resolution of Abasic Sites (AP sites). GO annotations related to this gene include DNA-(apurinic or apyrimidinic site) lyase activity and endonuclease activity. An important paralog of this gene is APEX1.

UniProtKB/Swiss-Prot: APEX2_HUMAN, Q9UBZ4
Function: Function as a weak apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair
(BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by
catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a
single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Displays also double-stranded DNA 3'-5'
exonuclease, 3'-phosphodiesterase activities. Shows robust 3'-5' exonuclease activity on 3'-recessed heteroduplex
DNA and is able to remove mismatched nucleotides preferentially. Shows fairly strong 3'-phosphodiesterase
activity involved in the removal of 3'-damaged termini formed in DNA by oxidative agents. In the nucleus
functions in the PCNA-dependent BER pathway. Required for somatic hypermutation (SHM) and DNA cleavage step of
class switch recombination (CSR) of immunoglobulin genes. Required for proper cell cycle progression during
proliferation of peripheral lymphocytes




(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_000023.10  NC_018934.2  NT_011630.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APEX2 gene promoter:
         E2F-4   E2F-3a   E2F-5   RP58   E2F-1   E2F   Chx10   E2F-2   POU3F2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPEX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for APEX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APEX2


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

Entrez Gene cytogenetic band: Xp11.21   Ensembl cytogenetic band:  Xp11.21   HGNC cytogenetic band: Xp11.23

APEX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APEX2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP055043:  view genomic region     (about GC identifiers)

Start:
55,026,780 bp from pter      End:
55,035,490 bp from pter
Size:
8,711 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: APEX2_HUMAN, Q9UBZ4 (See protein sequence)
Recommended Name: DNA-(apurinic or apyrimidinic site) lyase 2  
Size: 518 amino acids; 57401 Da
Cofactor: Magnesium. Can also utilize manganese. Probably binds two magnesium or manganese ions per subunit (By
similarity)
Subunit: Interacts with PCNA; this interaction is triggered by reactive oxygen species and increased by
misincorporation of uracil in nuclear DNA
Subcellular location: Nucleus. Cytoplasm. Mitochondrion (Probable). Note=Together with PCNA, is redistributed in
discrete nuclear foci in presence of oxidative DNA damaging agents
Secondary accessions: Q9Y5X7

Explore the universe of human proteins at neXtProt for APEX2: NX_Q9UBZ4

Explore proteomics data for APEX2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBZ4

  • APEX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    APEX2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001258677.1  NP_055296.2  

    ENSEMBL proteins: 
     ENSP00000364126  

    Human Recombinant Protein Products for APEX2: 
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    Novus Biologicals APEX2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APEX2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--

    APEX2 for ontologies           About GeneDecksing



    APEX2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for APEX2 

    Assay Products for APEX2: 
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    Cloud-Clone Corp. ELISAs for APEX2 
    Cloud-Clone Corp. CLIAs for APEX2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR020847 AP_endonuclease_F1_BS
     IPR005135 Endo/exonuclease/phosphatase
     IPR004808 ExoDNase_III
     IPR010666 Znf_GRF

    Graphical View of Domain Structure for InterPro Entry Q9UBZ4

    ProtoNet protein and cluster: Q9UBZ4

    1 Blocks protein domain: IPB000097 AP endonuclease

    UniProtKB/Swiss-Prot: APEX2_HUMAN, Q9UBZ4
    Similarity: Belongs to the DNA repair enzymes AP/ExoA family


    APEX2 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: APEX2_HUMAN, Q9UBZ4
    Function: Function as a weak apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair
    (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by
    catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a
    single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Displays also double-stranded DNA 3'-5'
    exonuclease, 3'-phosphodiesterase activities. Shows robust 3'-5' exonuclease activity on 3'-recessed heteroduplex
    DNA and is able to remove mismatched nucleotides preferentially. Shows fairly strong 3'-phosphodiesterase
    activity involved in the removal of 3'-damaged termini formed in DNA by oxidative agents. In the nucleus
    functions in the PCNA-dependent BER pathway. Required for somatic hypermutation (SHM) and DNA cleavage step of
    class switch recombination (CSR) of immunoglobulin genes. Required for proper cell cycle progression during
    proliferation of peripheral lymphocytes
    Catalytic activity: The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination
    reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate
    Enzyme regulation: 3'-5' exonuclease activity is activated by sodium and manganese. 3'-5' exonuclease and
    3'-phosphodiesterase activities are stimulated in presence of PCNA
    Biophysicochemical properties: pH dependence: Optimum pH is 6.0-8.0;

         Enzyme Numbers (IUBMB): EC 3.1.-.-1 EC 4.2.99.181

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003906DNA-(apurinic or apyrimidinic site) lyase activity IEA--
    GO:0004518nuclease activity ----
    GO:0004519endonuclease activity IEA--
    GO:0004527exonuclease activity IEA--
         
    APEX2 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Apex2):
     cellular  growth/size  hematopoietic system  immune system 

    APEX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Apex2tm1Yun for APEX2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for APEX2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for APEX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APEX2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APEX2 

    miRNA
    Products:
        
    miRTarBase miRNAs that target APEX2:
    hsa-mir-124 (MIRT002638)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APEX2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate APEX2
    SwitchGear 3'UTR luciferase reporter plasmidAPEX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for APEX2
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    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of APEX2 

    Cell Line
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    Search LifeMap BioReagents cell lines for APEX2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APEX2


    (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

    SuperPaths for APEX2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Resolution of Abasic Sites (AP sites)
    Base excision repair0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for APEX2):
        Base excision repair


    APEX2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APEX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/31 Interacting proteins for APEX2 (Q9UBZ42, 3 ENSP000003641264) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-67961 I2D: score=5 STRING: ENSP00000311695
    NINLQ9Y2I62, 3, ENSP000002788864MINT-67835 I2D: score=5 STRING: ENSP00000278886
    TRIM37O949722, 3, ENSP000002622944MINT-66277 I2D: score=5 STRING: ENSP00000262294
    EFEMP2O959672, 3, ENSP000003099534MINT-67353 I2D: score=4 STRING: ENSP00000309953
    CALCOCO2Q131372, 3, ENSP000002589474MINT-68260 I2D: score=5 STRING: ENSP00000258947
    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 IEA--
    GO:0006310DNA recombination IEA--
    GO:0007049cell cycle IEA--

    APEX2 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
    EMD Millipore small molecules for APEX2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APEX2

    Search CenterWatch for drugs/clinical trials and news about APEX2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 APEX2 gene (2 alternative transcripts): 
    NM_001271748.1  NM_014481.3  

    Unigene Cluster for APEX2:

    APEX nuclease (apurinic/apyrimidinic endonuclease) 2
    Hs.659558  [show with all ESTs]
    Unigene Representative Sequence: NM_014481
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374987(uc004dtz.3 uc011mom.2) ENST00000471758
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APEX2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate APEX2
    SwitchGear 3'UTR luciferase reporter plasmidAPEX2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for APEX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APEX2
    Clone
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    OriGene clones in human, mouse for APEX2 (see all 7)
    OriGene ORF clones in mouse, rat for APEX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: APEX2 (NM_014481)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APEX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APEX2
    Sirion Biotech Customized lentivirus for stable overexpression of APEX2 
                         Customized lentivirus expression plasmids for stable overexpression of APEX2 
    Primer
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    OriGene qPCR primer pairs and template standards for APEX2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APEX2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APEX2

    Additional mRNA sequence: 

    AB021260.1 AB049211.1 AF119046.1 AJ011311.1 AK301555.1 AK316186.1 BC002959.1 

    7 DOTS entries:

    DT.100787510  DT.308360  DT.100787514  DT.100787505  DT.95338509  DT.100787515  DT.91669288 

    24/134 AceView cDNA sequences (see all 134):

    BE076387 BQ428526 BU931498 AI347385 BE531337 CR595088 CR622468 BM541964 
    AI190577 BQ921050 NM_014481 BX325338 AI612817 BE794688 CR612334 CR605254 
    AB021260 BX325337 AI918533 BC002959 CR596927 BM561871 AB049211 AF119046 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for APEX2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                                
    SP2:                    -                           


    ECgene alternative splicing isoforms for APEX2

    (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

    APEX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTGAGGCC
    APEX2 Expression
    About this image


    See APEX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APEX2

    SOURCE GeneReport for Unigene cluster: Hs.659558

    UniProtKB/Swiss-Prot: APEX2_HUMAN, Q9UBZ4
    Tissue specificity: Highly expressed in brain and kidney. Weakly expressed in the fetal brain

        SABiosciences Expression via Pathway-Focused PCR Array including APEX2: 
              DNA Repair in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APEX2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APEX2

    (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 APEX2 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apex21 , 5 apurinic/apyrimidinic endonuclease 21, 5 83.33(n)1
    79.65(a)1
      X (68.46 cM)5
    776221  NM_029943.11  NP_084219.11 
     1505195195 
    lizard
    (Anolis carolinensis)
    Reptilia APEX26
    Uncharacterized protein
    51(a)
    1 ↔ 1
    1(205708557-205722150)
    zebrafish
    (Danio rerio)
    Actinopterygii apex21 APEX nuclease (apurinic/apyrimidinic endonuclease) more 54.51(n)
    51.3(a)
      393115  NM_200146.1  NP_956440.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APN2(YBL019W)4 Class II abasic (AP) endonuclease involved in repair more   --   2(184353-185915) 852262  NP_009534.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G360501 endonuclease 2 48.58(n)
    41.85(a)
      829761  NM_202962.2  NP_974691.2 
    rice
    (Oryza sativa)
    Liliopsida Os09g05360001 hypothetical protein 47.12(n)
    41.59(a)
      4347697  NM_001070318.1  NP_001063783.1 


    ENSEMBL Gene Tree for APEX2 (if available)
    TreeFam Gene Tree for APEX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for APEX2 gene
    APEX12  

    APEX2 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

    10/197 SNPs in APEX2 are shown (see all 197)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0640344
    ----see VAR_0640342 N H mis40--------
    VAR_0640334
    ----see VAR_0640332 H Y mis40--------
    rs28587651,2
    C,H--55033508(-) GGGGAG/AGGCTG 4 /P syn1 ese34Minor allele frequency- A:0.00NS EA 398
    rs1438485991,2
    C,F--55033563(+) CACTGA/GTGAGC 4 M V mis11Minor allele frequency- G:0.00NA 4534
    rs2001047351,2
    --55033575(+) CCCTCA/GTGACC 4 M V mis10--------
    rs617350911,2
    C,F--55033589(+) AAGACT/CCCAGA 4 /T syn12Minor allele frequency- C:0.01NS NA 4612
    rs2020816431,2
    C--55033621(+) GGTGAA/TGGGGC 4 K M mis10--------
    rs1473909021,2
    C,F--55033665(+) AGTTAC/TGGACC 4 R W mis11Minor allele frequency- T:0.00NA 4510
    rs1505667621,2
    C--55033808(+) CCCCGG/AGGTCC 4 /R syn11Minor allele frequency- A:0.00NA 3012
    rs2002340861,2
    C--55033859(+) AGCAGA/G/TCCCAG 6 R S syn1 mis10--------

    HapMap Linkage Disequilibrium report for APEX2 (55026780 - 55035490 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for APEX2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297


    Locus Specific Mutation Databases (LSDB): APEX2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing APEX2
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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: 300773    OMIM disorders: --

    5 diseases for APEX2:    About MalaCards
    mitochondrial disorders    multiple sclerosis    schizophrenia    tuberculosis
    gastric cancer


    APEX2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): APEX2
    Human Genome Epidemiology (HuGE) Navigator: APEX2 (1 document)

    Export disorders for APEX2 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 APEX2 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with APEX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human APE2 protein is mostly localized in the nuclei and to some extent in the mitochondria, while nuclear APE2 is partly associated with proliferating cell nuclear antigen. (PubMed id 11376153)1, 2, 3, 9 Tsuchimoto D.... Nakabeppu Y. (2001)
    2. Role of PCNA-dependent stimulation of 3'-phosphodiest erase and 3'-5' exonuclease activities of human Ape2 in repair of oxidative DNA damage. (PubMed id 19443450)1, 2, 9 Burkovics P....Haracska L. (2009)
    3. Human Ape2 protein has a 3'-5' exonuclease activity that acts preferentially on mismatched base pairs. (PubMed id 16687656)1, 2, 9 Burkovics P....Haracska L. (2006)
    4. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (2010)
    5. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PubMed id 20843780)1, 2 Wang W....Scharfe C. (2010)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    7. 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)
    8. Determinants in nuclease specificity of Ape1 and Ape2, human homologues of Escherichia coli exonuclease III. (PubMed id 11866537)1, 9 Hadi M.Z....Wilson D.M. (2002)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

    (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: 27301 HGNC: 17889 AceView: APEX2 Ensembl:ENSG00000169188 euGenes: HUgn27301
    ECgene: APEX2 Kegg: 27301 H-InvDB: APEX2

    (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 APEX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for APEX2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/apex2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for APEX2 gene:
    Search GeneIP for patents involving APEX2

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



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    About This Section

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