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APLP2 (amyloid beta precursor like protein 2)

Identity

Alias_namesAPPL2
amyloid beta (A4) precursor-like protein 2
Alias_symbol (synonym)APPH
Other aliasAPLP-2
CDEBP
HGNC (Hugo) APLP2
LocusID (NCBI) 334
Atlas_Id 52577
Location 11q24.3  [Link to chromosome band 11q24]
Location_base_pair Starts at 130069821 and ends at 130144811 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
APLP2 (11q24.3) / AFAP1L1 (5q32)APLP2 (11q24.3) / APLP2 (11q24.3)APLP2 (11q24.3) / ARHGAP21 (10p12.1)
APLP2 (11q24.3) / CD40 (20q13.12)APLP2 (11q24.3) / EEA1 (12q22)APLP2 (11q24.3) / EI24 (11q24.2)
APLP2 (11q24.3) / EIF2S2 (20q11.22)APLP2 (11q24.3) / EIF4G2 (11p15.3)APLP2 (11q24.3) / HDHD2 (18q21.1)
APLP2 (11q24.3) / HMP19 (5q35.2)APLP2 (11q24.3) / HNRNPF (10q11.21)APLP2 (11q24.3) / KCNJ5 (11q24.3)
APLP2 (11q24.3) / MAD1L1 (7p22.3)APLP2 (11q24.3) / PLEKHA5 (12p12.3)APLP2 (11q24.3) / PPM1G (2p23.3)
APLP2 (11q24.3) / PRRC2C (1q24.3)APLP2 (11q24.3) / SERPING1 (11q12.1)APLP2 (11q24.3) / TNFSF11 (13q14.11)
APLP2 (11q24.3) / ZNF652 (17q21.32)ARL6IP1 (16p12.3) / APLP2 (11q24.3)DEF8 (16q24.3) / APLP2 (11q24.3)
PACS2 (14q32.33) / APLP2 (11q24.3)ST14 (11q24.3) / APLP2 (11q24.3)ZNF776 (19q13.43) / APLP2 (11q24.3)
APLP2 11q24.3 / CD40 20q13.12APLP2 11q24.3 / EEA1 12q22APLP2 11q24.3 / KCNJ5 11q24.3
APLP2 11q24.3 / PLEKHA5 12p12.3ST14 11q24.3 / APLP2 11q24.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  Lung: Translocations in Adenocarcinoma
APLP2/KCNJ5 (11q24)
ST14/APLP2 (11q24)
t(11;12)(q24;p12) APLP2/PLEKHA5
t(11;12)(q24;q22) APLP2/EEA1
t(11;13)(q24;q14) APLP2/TNFSF11
t(11;20)(q24;q13) APLP2/CD40


External links

Nomenclature
HGNC (Hugo)APLP2   598
Cards
Entrez_Gene (NCBI)APLP2  334  amyloid beta precursor like protein 2
AliasesAPLP-2; APPH; APPL2; CDEBP
GeneCards (Weizmann)APLP2
Ensembl hg19 (Hinxton)ENSG00000084234 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000084234 [Gene_View]  ENSG00000084234 [Sequence]  chr11:130069821-130144811 [Contig_View]  APLP2 [Vega]
ICGC DataPortalENSG00000084234
TCGA cBioPortalAPLP2
AceView (NCBI)APLP2
Genatlas (Paris)APLP2
WikiGenes334
SOURCE (Princeton)APLP2
Genetics Home Reference (NIH)APLP2
Genomic and cartography
GoldenPath hg38 (UCSC)APLP2  -     chr11:130069821-130144811 +  11q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APLP2  -     11q24.3   [Description]    (hg19-Feb_2009)
EnsemblAPLP2 - 11q24.3 [CytoView hg19]  APLP2 - 11q24.3 [CytoView hg38]
Mapping of homologs : NCBIAPLP2 [Mapview hg19]  APLP2 [Mapview hg38]
OMIM104776   
Gene and transcription
Genbank (Entrez)AF168956 AK056883 AK122834 AK124457 AK128162
RefSeq transcript (Entrez)NM_001142276 NM_001142277 NM_001142278 NM_001243299 NM_001328682 NM_001328684 NM_001328685 NM_001328686 NM_001642
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)APLP2
Cluster EST : UnigeneHs.370247 [ NCBI ]
CGAP (NCI)Hs.370247
Alternative Splicing GalleryENSG00000084234
Gene ExpressionAPLP2 [ NCBI-GEO ]   APLP2 [ EBI - ARRAY_EXPRESS ]   APLP2 [ SEEK ]   APLP2 [ MEM ]
Gene Expression Viewer (FireBrowse)APLP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)334
GTEX Portal (Tissue expression)APLP2
Human Protein AtlasENSG00000084234-APLP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06481   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06481  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06481
Splice isoforms : SwissVarQ06481
PhosPhoSitePlusQ06481
Domaine pattern : Prosite (Expaxy)A4_EXTRA (PS00319)    A4_INTRA (PS00320)    BPTI_KUNITZ_1 (PS00280)    BPTI_KUNITZ_2 (PS50279)   
Domains : Interpro (EBI)Amyloid_Cu-bd_sf    Amyloid_glyco    Amyloid_glyco_Cu-bd    Amyloid_glyco_E2_domain    Amyloid_glyco_extra    Amyloid_glyco_extracell_CS    Amyloid_glyco_heparin-bd    Amyloid_glyco_heparin-bd_sf    Amyloid_glyco_intracell_CS    APP_amyloid_C    E2_sf    Kunitz_BPTI    Kunitz_BPTI_sf    PH-like_dom_sf    Prtase_inh_Kunz-CS   
Domain families : Pfam (Sanger)APP_amyloid (PF10515)    APP_Cu_bd (PF12924)    APP_E2 (PF12925)    APP_N (PF02177)    Kunitz_BPTI (PF00014)   
Domain families : Pfam (NCBI)pfam10515    pfam12924    pfam12925    pfam02177    pfam00014   
Domain families : Smart (EMBL)A4_EXTRA (SM00006)  KU (SM00131)  
Conserved Domain (NCBI)APLP2
DMDM Disease mutations334
Blocks (Seattle)APLP2
PDB (RSDB)5JBT   
PDB Europe5JBT   
PDB (PDBSum)5JBT   
PDB (IMB)5JBT   
Structural Biology KnowledgeBase5JBT   
SCOP (Structural Classification of Proteins)5JBT   
CATH (Classification of proteins structures)5JBT   
SuperfamilyQ06481
Human Protein Atlas [tissue]ENSG00000084234-APLP2 [tissue]
Peptide AtlasQ06481
HPRD00103
IPIIPI00031030   IPI00220977   IPI00220978   IPI00884988   IPI00334946   IPI00973038   IPI01013848   IPI01014180   IPI00983079   IPI00975666   IPI01021480   IPI00983004   IPI00983691   IPI00978328   IPI00973819   
Protein Interaction databases
DIP (DOE-UCLA)Q06481
IntAct (EBI)Q06481
FunCoupENSG00000084234
BioGRIDAPLP2
STRING (EMBL)APLP2
ZODIACAPLP2
Ontologies - Pathways
QuickGOQ06481
Ontology : AmiGOplatelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  protein binding  nucleus  endoplasmic reticulum lumen  plasma membrane  G protein-coupled receptor signaling pathway  heparin binding  negative regulation of endopeptidase activity  membrane  integral component of membrane  platelet alpha granule membrane  identical protein binding  post-translational protein modification  cellular protein metabolic process  transition metal ion binding  extracellular exosome  
Ontology : EGO-EBIplatelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  protein binding  nucleus  endoplasmic reticulum lumen  plasma membrane  G protein-coupled receptor signaling pathway  heparin binding  negative regulation of endopeptidase activity  membrane  integral component of membrane  platelet alpha granule membrane  identical protein binding  post-translational protein modification  cellular protein metabolic process  transition metal ion binding  extracellular exosome  
NDEx NetworkAPLP2
Atlas of Cancer Signalling NetworkAPLP2
Wikipedia pathwaysAPLP2
Orthology - Evolution
OrthoDB334
GeneTree (enSembl)ENSG00000084234
Phylogenetic Trees/Animal Genes : TreeFamAPLP2
HOGENOMQ06481
Homologs : HomoloGeneAPLP2
Homology/Alignments : Family Browser (UCSC)APLP2
Gene fusions - Rearrangements
Fusion : MitelmanAPLP2/CD40 [11q24.3/20q13.12]  
Fusion : MitelmanAPLP2/EEA1 [11q24.3/12q22]  [t(11;12)(q24;q22)]  
Fusion : MitelmanAPLP2/KCNJ5 [11q24.3/11q24.3]  [t(11;11)(q24;q24)]  
Fusion : MitelmanAPLP2/PLEKHA5 [11q24.3/12p12.3]  [t(11;12)(q24;p12)]  
Fusion : MitelmanAPLP2/TNFSF11 [11q24.3/13q14.11]  [t(11;13)(q24;q14)]  
Fusion : MitelmanST14/APLP2 [11q24.3/11q24.3]  [t(11;11)(q24;q24)]  
Fusion PortalAPLP2 11q24.3 CD40 20q13.12 THCA
Fusion PortalAPLP2 11q24.3 EEA1 12q22 THCA
Fusion PortalAPLP2 11q24.3 KCNJ5 11q24.3 BRCA
Fusion PortalAPLP2 11q24.3 PLEKHA5 12p12.3 KIRC
Fusion PortalST14 11q24.3 APLP2 11q24.3 PRAD
Fusion : QuiverAPLP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPLP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APLP2
dbVarAPLP2
ClinVarAPLP2
1000_GenomesAPLP2 
Exome Variant ServerAPLP2
ExAC (Exome Aggregation Consortium)ENSG00000084234
GNOMAD BrowserENSG00000084234
Varsome BrowserAPLP2
Genetic variants : HAPMAP334
Genomic Variants (DGV)APLP2 [DGVbeta]
DECIPHERAPLP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPLP2 
Mutations
ICGC Data PortalAPLP2 
TCGA Data PortalAPLP2 
Broad Tumor PortalAPLP2
OASIS PortalAPLP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPLP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPLP2
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
BioMutasearch APLP2
DgiDB (Drug Gene Interaction Database)APLP2
DoCM (Curated mutations)APLP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APLP2 (select a term)
intoGenAPLP2
Cancer3DAPLP2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM104776   
Orphanet
DisGeNETAPLP2
MedgenAPLP2
Genetic Testing Registry APLP2
NextProtQ06481 [Medical]
TSGene334
GENETestsAPLP2
Target ValidationAPLP2
Huge Navigator APLP2 [HugePedia]
snp3D : Map Gene to Disease334
BioCentury BCIQAPLP2
ClinGenAPLP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD334
Chemical/Pharm GKB GenePA24885
Clinical trialAPLP2
Miscellaneous
canSAR (ICR)APLP2 (select the gene name)
DataMed IndexAPLP2
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPLP2
EVEXAPLP2
GoPubMedAPLP2
iHOPAPLP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:01:22 CET 2019

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