Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PLEKHA3 (pleckstrin homology domain containing A3)

Identity

Alias_namespleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3
Alias_symbol (synonym)FAPP1
Other alias
HGNC (Hugo) PLEKHA3
LocusID (NCBI) 65977
Atlas_Id 47267
Location 2q31.2  [Link to chromosome band 2q31]
Location_base_pair Starts at 178480472 and ends at 178505055 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)
PLEKHA3 (2q31.2) / MTX2 (2q31.1)PLEKHA3 2q31.2 / MTX2 2q31.1

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)PLEKHA3   14338
Cards
Entrez_Gene (NCBI)PLEKHA3  65977  pleckstrin homology domain containing A3
AliasesFAPP1
GeneCards (Weizmann)PLEKHA3
Ensembl hg19 (Hinxton)ENSG00000116095 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116095 [Gene_View]  chr2:178480472-178505055 [Contig_View]  PLEKHA3 [Vega]
ICGC DataPortalENSG00000116095
TCGA cBioPortalPLEKHA3
AceView (NCBI)PLEKHA3
Genatlas (Paris)PLEKHA3
WikiGenes65977
SOURCE (Princeton)PLEKHA3
Genetics Home Reference (NIH)PLEKHA3
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHA3  -     chr2:178480472-178505055 +  2q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHA3  -     2q31.2   [Description]    (hg19-Feb_2009)
EnsemblPLEKHA3 - 2q31.2 [CytoView hg19]  PLEKHA3 - 2q31.2 [CytoView hg38]
Mapping of homologs : NCBIPLEKHA3 [Mapview hg19]  PLEKHA3 [Mapview hg38]
OMIM607774   
Gene and transcription
Genbank (Entrez)AF286162 AK000074 AK074209 AK314459 BC035471
RefSeq transcript (Entrez)NM_019091
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHA3
Cluster EST : UnigeneHs.41086 [ NCBI ]
CGAP (NCI)Hs.41086
Alternative Splicing GalleryENSG00000116095
Gene ExpressionPLEKHA3 [ NCBI-GEO ]   PLEKHA3 [ EBI - ARRAY_EXPRESS ]   PLEKHA3 [ SEEK ]   PLEKHA3 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65977
GTEX Portal (Tissue expression)PLEKHA3
Human Protein AtlasENSG00000116095-PLEKHA3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HB20   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HB20  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HB20
Splice isoforms : SwissVarQ9HB20
PhosPhoSitePlusQ9HB20
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PLEKHA3
DMDM Disease mutations65977
Blocks (Seattle)PLEKHA3
PDB (SRS)2KCJ    2MDX    3RCP   
PDB (PDBSum)2KCJ    2MDX    3RCP   
PDB (IMB)2KCJ    2MDX    3RCP   
PDB (RSDB)2KCJ    2MDX    3RCP   
Structural Biology KnowledgeBase2KCJ    2MDX    3RCP   
SCOP (Structural Classification of Proteins)2KCJ    2MDX    3RCP   
CATH (Classification of proteins structures)2KCJ    2MDX    3RCP   
SuperfamilyQ9HB20
Human Protein Atlas [tissue]ENSG00000116095-PLEKHA3 [tissue]
Peptide AtlasQ9HB20
HPRD09688
IPIIPI00029474   IPI00916974   IPI00916354   
Protein Interaction databases
DIP (DOE-UCLA)Q9HB20
IntAct (EBI)Q9HB20
FunCoupENSG00000116095
BioGRIDPLEKHA3
STRING (EMBL)PLEKHA3
ZODIACPLEKHA3
Ontologies - Pathways
QuickGOQ9HB20
Ontology : AmiGOGolgi membrane  phospholipid binding  1-phosphatidylinositol binding  cellular_component  Golgi apparatus  phosphatidylinositol biosynthetic process  biological_process  
Ontology : EGO-EBIGolgi membrane  phospholipid binding  1-phosphatidylinositol binding  cellular_component  Golgi apparatus  phosphatidylinositol biosynthetic process  biological_process  
NDEx NetworkPLEKHA3
Atlas of Cancer Signalling NetworkPLEKHA3
Wikipedia pathwaysPLEKHA3
Orthology - Evolution
OrthoDB65977
GeneTree (enSembl)ENSG00000116095
Phylogenetic Trees/Animal Genes : TreeFamPLEKHA3
HOVERGENQ9HB20
HOGENOMQ9HB20
Homologs : HomoloGenePLEKHA3
Homology/Alignments : Family Browser (UCSC)PLEKHA3
Gene fusions - Rearrangements
Fusion : MitelmanPLEKHA3/MTX2 [2q31.2/2q31.1]  
Fusion: TCGA_MDACCPLEKHA3 2q31.2 MTX2 2q31.1 PRAD
Tumor Fusion PortalPLEKHA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHA3
dbVarPLEKHA3
ClinVarPLEKHA3
1000_GenomesPLEKHA3 
Exome Variant ServerPLEKHA3
ExAC (Exome Aggregation Consortium)ENSG00000116095
GNOMAD BrowserENSG00000116095
Genetic variants : HAPMAP65977
Genomic Variants (DGV)PLEKHA3 [DGVbeta]
DECIPHERPLEKHA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHA3 
Mutations
ICGC Data PortalPLEKHA3 
TCGA Data PortalPLEKHA3 
Broad Tumor PortalPLEKHA3
OASIS PortalPLEKHA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHA3
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 PLEKHA3
DgiDB (Drug Gene Interaction Database)PLEKHA3
DoCM (Curated mutations)PLEKHA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHA3 (select a term)
intoGenPLEKHA3
Cancer3DPLEKHA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607774   
Orphanet
DisGeNETPLEKHA3
MedgenPLEKHA3
Genetic Testing Registry PLEKHA3
NextProtQ9HB20 [Medical]
TSGene65977
GENETestsPLEKHA3
Target ValidationPLEKHA3
Huge Navigator PLEKHA3 [HugePedia]
snp3D : Map Gene to Disease65977
BioCentury BCIQPLEKHA3
ClinGenPLEKHA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65977
Chemical/Pharm GKB GenePA33403
Clinical trialPLEKHA3
Miscellaneous
canSAR (ICR)PLEKHA3 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHA3
EVEXPLEKHA3
GoPubMedPLEKHA3
iHOPPLEKHA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:29:07 CET 2017

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