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APPL2 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2)

Identity

Alias_namesadaptor protein
Alias_symbol (synonym)FLJ10659
DIP13B
Other alias
HGNC (Hugo) APPL2
LocusID (NCBI) 55198
Atlas_Id 49917
Location 12q23.3  [Link to chromosome band 12q23]
Location_base_pair Starts at 105567075 and ends at 105630008 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APPL2 (12q23.3) / ACTN4 (19q13.2)APPL2 (12q23.3) / APPL2 (12q23.3)APPL2 (12q23.3) / CIT (12q24.23)
APPL2 (12q23.3) / FN1 (2q35)APPL2 (12q23.3) / SHANK3 (22q13.33)ATG2B (14q32.2) / APPL2 (12q23.3)
APPL2 12q23.3 / CIT 12q24.23

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)APPL2   18242
Cards
Entrez_Gene (NCBI)APPL2  55198  adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
AliasesDIP13B
GeneCards (Weizmann)APPL2
Ensembl hg19 (Hinxton)ENSG00000136044 [Gene_View]  chr12:105567075-105630008 [Contig_View]  APPL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000136044 [Gene_View]  chr12:105567075-105630008 [Contig_View]  APPL2 [Vega]
ICGC DataPortalENSG00000136044
TCGA cBioPortalAPPL2
AceView (NCBI)APPL2
Genatlas (Paris)APPL2
WikiGenes55198
SOURCE (Princeton)APPL2
Genetics Home Reference (NIH)APPL2
Genomic and cartography
GoldenPath hg19 (UCSC)APPL2  -     chr12:105567075-105630008 -  12q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)APPL2  -     12q23.3   [Description]    (hg38-Dec_2013)
EnsemblAPPL2 - 12q23.3 [CytoView hg19]  APPL2 - 12q23.3 [CytoView hg38]
Mapping of homologs : NCBIAPPL2 [Mapview hg19]  APPL2 [Mapview hg38]
OMIM606231   
Gene and transcription
Genbank (Entrez)AK001521 AK290562 AK293783 AK296610 AK297100
RefSeq transcript (Entrez)NM_001251904 NM_001251905 NM_018171
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_030419 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)APPL2
Cluster EST : UnigeneHs.506603 [ NCBI ]
CGAP (NCI)Hs.506603
Alternative Splicing GalleryENSG00000136044
Gene ExpressionAPPL2 [ NCBI-GEO ]   APPL2 [ EBI - ARRAY_EXPRESS ]   APPL2 [ SEEK ]   APPL2 [ MEM ]
Gene Expression Viewer (FireBrowse)APPL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55198
GTEX Portal (Tissue expression)APPL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEU8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEU8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEU8
Splice isoforms : SwissVarQ8NEU8
PhosPhoSitePlusQ8NEU8
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    PID (PS01179)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    PTB/PI_dom   
Domain families : Pfam (Sanger)PH (PF00169)    PID (PF00640)   
Domain families : Pfam (NCBI)pfam00169    pfam00640   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)APPL2
DMDM Disease mutations55198
Blocks (Seattle)APPL2
PDB (SRS)4H8S   
PDB (PDBSum)4H8S   
PDB (IMB)4H8S   
PDB (RSDB)4H8S   
Structural Biology KnowledgeBase4H8S   
SCOP (Structural Classification of Proteins)4H8S   
CATH (Classification of proteins structures)4H8S   
SuperfamilyQ8NEU8
Human Protein AtlasENSG00000136044
Peptide AtlasQ8NEU8
HPRD06945
IPIIPI00172513   IPI01011032   IPI01021715   IPI01021229   IPI01021357   IPI01022159   IPI01022321   IPI01021885   IPI01022007   
Protein Interaction databases
DIP (DOE-UCLA)Q8NEU8
IntAct (EBI)Q8NEU8
FunCoupENSG00000136044
BioGRIDAPPL2
STRING (EMBL)APPL2
ZODIACAPPL2
Ontologies - Pathways
QuickGOQ8NEU8
Ontology : AmiGOprotein binding  nucleus  cytoplasm  cell cycle  signal transduction  cell proliferation  endosome membrane  NuRD complex  early endosome membrane  extracellular exosome  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  cell cycle  signal transduction  cell proliferation  endosome membrane  NuRD complex  early endosome membrane  extracellular exosome  
NDEx NetworkAPPL2
Atlas of Cancer Signalling NetworkAPPL2
Wikipedia pathwaysAPPL2
Orthology - Evolution
OrthoDB55198
GeneTree (enSembl)ENSG00000136044
Phylogenetic Trees/Animal Genes : TreeFamAPPL2
HOVERGENQ8NEU8
HOGENOMQ8NEU8
Homologs : HomoloGeneAPPL2
Homology/Alignments : Family Browser (UCSC)APPL2
Gene fusions - Rearrangements
Fusion : MitelmanAPPL2/CIT [12q23.3/12q24.23]  
Fusion: TCGAAPPL2 12q23.3 CIT 12q24.23 LUSC
Fusion Cancer (Beijing)APPL2 [12q23.3]  -  FN1 [2q35]  [FUSC003617]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPPL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APPL2
dbVarAPPL2
ClinVarAPPL2
1000_GenomesAPPL2 
Exome Variant ServerAPPL2
ExAC (Exome Aggregation Consortium)APPL2 (select the gene name)
Genetic variants : HAPMAP55198
Genomic Variants (DGV)APPL2 [DGVbeta]
DECIPHER (Syndromes)12:105567075-105630008  ENSG00000136044
CONAN: Copy Number AnalysisAPPL2 
Mutations
ICGC Data PortalAPPL2 
TCGA Data PortalAPPL2 
Broad Tumor PortalAPPL2
OASIS PortalAPPL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPPL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPPL2
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 APPL2
DgiDB (Drug Gene Interaction Database)APPL2
DoCM (Curated mutations)APPL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APPL2 (select a term)
intoGenAPPL2
Cancer3DAPPL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606231   
Orphanet
MedgenAPPL2
Genetic Testing Registry APPL2
NextProtQ8NEU8 [Medical]
TSGene55198
GENETestsAPPL2
Huge Navigator APPL2 [HugePedia]
snp3D : Map Gene to Disease55198
BioCentury BCIQAPPL2
ClinGenAPPL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55198
Chemical/Pharm GKB GenePA164741199
Clinical trialAPPL2
Miscellaneous
canSAR (ICR)APPL2 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPPL2
EVEXAPPL2
GoPubMedAPPL2
iHOPAPPL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:44 CEST 2017

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