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APEX2 (apurinic/apyrimidinic endodeoxyribonuclease 2)

Identity

Alias_namesGRF-type containing 2
Alias_symbol (synonym)APEXL2
APE2
XTH2
ZGRF2
Other alias
HGNC (Hugo) APEX2
LocusID (NCBI) 27301
Atlas_Id 670
Location Xp11.21  [Link to chromosome band Xp11]
Location_base_pair Starts at 55000323 and ends at 55007873 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APEX2 (Xp11.21) / APEX2 (Xp11.21)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)APEX2   17889
Cards
Entrez_Gene (NCBI)APEX2  27301  apurinic/apyrimidinic endodeoxyribonuclease 2
AliasesAPE2; APEXL2; XTH2; ZGRF2
GeneCards (Weizmann)APEX2
Ensembl hg19 (Hinxton)ENSG00000169188 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169188 [Gene_View]  chrX:55000323-55007873 [Contig_View]  APEX2 [Vega]
ICGC DataPortalENSG00000169188
TCGA cBioPortalAPEX2
AceView (NCBI)APEX2
Genatlas (Paris)APEX2
WikiGenes27301
SOURCE (Princeton)APEX2
Genetics Home Reference (NIH)APEX2
Genomic and cartography
GoldenPath hg38 (UCSC)APEX2  -     chrX:55000323-55007873 +  Xp11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APEX2  -     Xp11.21   [Description]    (hg19-Feb_2009)
EnsemblAPEX2 - Xp11.21 [CytoView hg19]  APEX2 - Xp11.21 [CytoView hg38]
Mapping of homologs : NCBIAPEX2 [Mapview hg19]  APEX2 [Mapview hg38]
OMIM300773   
Gene and transcription
Genbank (Entrez)AB021260 AB049211 AF119046 AJ011311 AK301555
RefSeq transcript (Entrez)NM_001271748 NM_014481
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)APEX2
Cluster EST : UnigeneHs.659558 [ NCBI ]
CGAP (NCI)Hs.659558
Alternative Splicing GalleryENSG00000169188
Gene ExpressionAPEX2 [ NCBI-GEO ]   APEX2 [ EBI - ARRAY_EXPRESS ]   APEX2 [ SEEK ]   APEX2 [ MEM ]
Gene Expression Viewer (FireBrowse)APEX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27301
GTEX Portal (Tissue expression)APEX2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBZ4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBZ4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBZ4
Splice isoforms : SwissVarQ9UBZ4
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.-3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   
PhosPhoSitePlusQ9UBZ4
Domaine pattern : Prosite (Expaxy)AP_NUCLEASE_F1_1 (PS00726)    AP_NUCLEASE_F1_4 (PS51435)   
Domains : Interpro (EBI)AP_endonuc_1    AP_endonuclease_F1_BS    Endo/exonuclease/phosphatase    Znf_GRF   
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)    zf-GRF (PF06839)   
Domain families : Pfam (NCBI)pfam03372    pfam06839   
Conserved Domain (NCBI)APEX2
DMDM Disease mutations27301
Blocks (Seattle)APEX2
SuperfamilyQ9UBZ4
Human Protein AtlasENSG00000169188
Peptide AtlasQ9UBZ4
HPRD06442
IPIIPI00083281   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBZ4
IntAct (EBI)Q9UBZ4
FunCoupENSG00000169188
BioGRIDAPEX2
STRING (EMBL)APEX2
ZODIACAPEX2
Ontologies - Pathways
QuickGOQ9UBZ4
Ontology : AmiGOfibrillar center  DNA binding  DNA-(apurinic or apyrimidinic site) lyase activity  nucleus  nucleus  mitochondrion  base-excision repair  DNA recombination  cell cycle  zinc ion binding  double-stranded DNA 3'-5' exodeoxyribonuclease activity  intracellular membrane-bounded organelle  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIfibrillar center  DNA binding  DNA-(apurinic or apyrimidinic site) lyase activity  nucleus  nucleus  mitochondrion  base-excision repair  DNA recombination  cell cycle  zinc ion binding  double-stranded DNA 3'-5' exodeoxyribonuclease activity  intracellular membrane-bounded organelle  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGBase excision repair   
NDEx NetworkAPEX2
Atlas of Cancer Signalling NetworkAPEX2
Wikipedia pathwaysAPEX2
Orthology - Evolution
OrthoDB27301
GeneTree (enSembl)ENSG00000169188
Phylogenetic Trees/Animal Genes : TreeFamAPEX2
HOVERGENQ9UBZ4
HOGENOMQ9UBZ4
Homologs : HomoloGeneAPEX2
Homology/Alignments : Family Browser (UCSC)APEX2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPEX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APEX2
dbVarAPEX2
ClinVarAPEX2
1000_GenomesAPEX2 
Exome Variant ServerAPEX2
ExAC (Exome Aggregation Consortium)APEX2 (select the gene name)
Genetic variants : HAPMAP27301
Genomic Variants (DGV)APEX2 [DGVbeta]
DECIPHERAPEX2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPEX2 
Mutations
ICGC Data PortalAPEX2 
TCGA Data PortalAPEX2 
Broad Tumor PortalAPEX2
OASIS PortalAPEX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPEX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPEX2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch APEX2
DgiDB (Drug Gene Interaction Database)APEX2
DoCM (Curated mutations)APEX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APEX2 (select a term)
intoGenAPEX2
Cancer3DAPEX2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300773   
Orphanet
MedgenAPEX2
Genetic Testing Registry APEX2
NextProtQ9UBZ4 [Medical]
TSGene27301
GENETestsAPEX2
Target ValidationAPEX2
Huge Navigator APEX2 [HugePedia]
snp3D : Map Gene to Disease27301
BioCentury BCIQAPEX2
ClinGenAPEX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27301
Chemical/Pharm GKB GenePA38474
Clinical trialAPEX2
Miscellaneous
canSAR (ICR)APEX2 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPEX2
EVEXAPEX2
GoPubMedAPEX2
iHOPAPEX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:23:59 CEST 2017

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