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APEX2 Gene

protein-coding   GIFtS: 61
GCID: GC0XP055043

APEX Nuclease (Apurinic/Apyrimidinic Endonuclease) 2

  See APEX2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
APEX Nuclease (Apurinic/Apyrimidinic Endonuclease) 21 2     Apurinic/Apyrimidinic Endonuclease-Like 22
APE22 3 5     DNA-(Apurinic Or Apyrimidinic Site) Lyase 22
APEXL22 3 5     Zinc Finger, GRF-Type Containing 22
XTH22 3 5     EC 3.1.-.-3
AP Endonuclease 22 3     EC 4.2.99.183
AP Endonuclease XTH22 3     APEX Nuclease 23
GRF-Type Containing 21     APEX Nuclease-Like 23
Zinc Finger1     Apurinic-Apyrimidinic Endonuclease 23
ZGRF22     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011630.15  
Regulatory elements:
   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 Chromatin IP Primers for APEX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys338, Lys371, Lys457
  • Modification sites at PhosphoSitePlus

  • See APEX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000364126  

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    Cloud-Clone Corp. ELISAs for APEX2
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    Search eBioscience for ELISAs for APEX2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR020847 AP_endonuclease_F1_BS
     IPR004808 AP_endonuc_1
     IPR005135 Endo/exonuclease/phosphatase
     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


    Find genes that share domains with APEX2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 ----
    GO:0004527exonuclease activity IEA--
         
    Find genes that share ontologies with APEX2           About GenesLikeMe


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

    Find genes that share phenotypes with APEX2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Apex2tm1Yun for APEX2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APEX2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APEX2

    miRNA
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    miRTarBase miRNAs that target APEX2:
    hsa-mir-124-3p (MIRT002638)

    Block miRNA regulation of human, mouse, rat APEX2 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidAPEX2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat APEX2

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    GenScript: all cDNA clones in your preferred vector: APEX2 (NM_014481)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APEX2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APEX2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APEX2_HUMAN, Q9UBZ4: Nucleus. Cytoplasm. Mitochondrion (Probable). Note=Together with PCNA, is redistributed in
    discrete nuclear foci in presence of oxidative DNA damaging agents
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with APEX2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for APEX2 About    
    See pathways by source

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


    Find genes that share SuperPaths with APEX2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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

        Pathway & Disease-focused RT2 Profiler PCR Array including APEX2: 
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APEX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for APEX2 (Q9UBZ42, 3 ENSP000003641264) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0007049cell cycle IEA--

    Find genes that share ontologies with APEX2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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      QuantiTect SYBR Green Assays in human, mouse, rat APEX2
      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 

    Selected AceView cDNA sequences (see all 134):

    CR622468 BQ428526 AW444648 BU164122 AB049211 BM541964 AF119046 BE076387 
    CR605254 AI190577 BQ921050 NM_014481 AJ011311 BC002959 BM561871 BU931498 
    AI347385 BE794688 AB021260 AI918533 AI612817 BU553240 BX325338 BI333249 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    APEX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APEX2 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including APEX2: 
              DNA Repair in human mouse rat

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for APEX2 gene from Selected species (see all 16)    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
    APEX nuclease (apurinic/apyrimidinic endonuclease)...
    52(a)
    1 ↔ 1
    1(205708557-205722150)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia apex21 APEX nuclease (apurinic/apyrimidinic endonuclease) more 57.79(n)
    54.92(a)
      448512  NM_001006803.1  NP_001006804.1 
    zebrafish
    (Danio rerio)
    Actinopterygii apex21 APEX nuclease (apurinic/apyrimidinic endonuclease) more 54.91(n)
    51.81(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 AT4G36050 50.49(n)
    44.15(a)
      829761  NM_202962.2  NP_974691.2 
    rice
    (Oryza sativa)
    Liliopsida Os09g05360001 Os09g0536000 47.5(n)
    41.82(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)
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    Paralogs for APEX2 gene
    APEX12  

    Find genes that share paralogs with APEX2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for APEX2 (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
    ----------
    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--------
    rs28587641,2
    H--55033923(-) AGCTGG/TCCTCA 2 -- ut31 ese34Minor allele frequency- T:0.00NS EA 416
    rs283826951,2
    C,F--55033975(+) CTACCC/TTTCTC 2 -- ut31 trp35Minor allele frequency- T:0.00NS 190

    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

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 300773    OMIM disorders: --

    1 disease for APEX2:    
    About MalaCards
    mitochondrial disorders


    Find genes that share disorders with APEX2           About GenesLikeMe

    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)
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    PubMed articles for APEX2 gene, integrated from 10 sources (see all 26):
    (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. (Nucleic Acids Res. 2001)
    2. Role of PCNA-dependent stimulation of 3'-phosphodiesterase and 3'-5' exonuclease activities of human Ape2 in repair of oxidative DNA damage. (PubMed id 19443450)1, 2, 9 Burkovics P.... Haracska L. (Nucleic Acids Res. 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. (Nucleic Acids Res. 2006)
    4. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PubMed id 20843780)1, 2 Wang W.... Scharfe C. (Nucleic Acids Res. 2011)
    5. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 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. (Genome Res. 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. (J. Mol. Biol. 2002)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 27301 HGNC: 17889 AceView: APEX2 Ensembl:ENSG00000169188 euGenes: HUgn27301
    ECgene: APEX2 Kegg: 27301 H-InvDB: APEX2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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