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PLEKHA5 (pleckstrin homology domain containing A5)

Identity

Alias_namespleckstrin homology domain containing
Alias_symbol (synonym)PEPP2
KIAA1686
FLJ10667
Other aliasPEPP-2
HGNC (Hugo) PLEKHA5
LocusID (NCBI) 54477
Atlas_Id 46847
Location 12p12.3  [Link to chromosome band 12p12]
Location_base_pair Starts at 19282626 and ends at 19526602 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
A2M (12p13.31) / PLEKHA5 (12p12.3)ACTG1 (17q25.3) / PLEKHA5 (12p12.3)APLP2 (11q24.3) / PLEKHA5 (12p12.3)
CASC1 (12p12.1) / PLEKHA5 (12p12.3)CPE (4q32.3) / PLEKHA5 (12p12.3)CTTN (11q13.3) / PLEKHA5 (12p12.3)
EPS8 (12p12.3) / PLEKHA5 (12p12.3)FGB (4q31.3) / PLEKHA5 (12p12.3)HSPH1 (13q12.3) / PLEKHA5 (12p12.3)
LOC285696 (5p15.1) / PLEKHA5 (12p12.3)NDRG1 (8q24.22) / PLEKHA5 (12p12.3)P4HB (17q25.3) / PLEKHA5 (12p12.3)
PLEKHA5 (12p12.3) / AEBP2 (12p12.3)PLEKHA5 (12p12.3) / GPC6 (13q31.3)PLEKHA5 (12p12.3) / PLEKHA5 (12p12.3)
PLEKHA5 (12p12.3) / TRIM29 (11q23.3)TSC22D1 (13q14.11) / PLEKHA5 (12p12.3)VIM (10p13) / PLEKHA5 (12p12.3)
ACTG1 17q25.3 / PLEKHA5 12p12.3APLP2 11q24.3 / PLEKHA5 12p12.3CASC1 12p12.1 / PLEKHA5 12p12.3
CPE 4q32.3 / PLEKHA5 12p12.3CTTN 11q13.3 / PLEKHA5 12p12.3EPS8 12p12.3 / PLEKHA5 12p12.3
FGB 4q31.3 / PLEKHA5 12p12.3HSPH1 13q12.3 / PLEKHA5 12p12.3NDRG1 8q24.22 / PLEKHA5 12p12.3
P4HB 17q25.3 / PLEKHA5 12p12.3PLEKHA5 12p12.3 / GPC6 13q31.3TSC22D1 13q14.11 / PLEKHA5 12p12.3
VIM 10p13 / PLEKHA5 12p12.3

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

 


External links

Nomenclature
HGNC (Hugo)PLEKHA5   30036
Cards
Entrez_Gene (NCBI)PLEKHA5  54477  pleckstrin homology domain containing A5
AliasesPEPP-2; PEPP2
GeneCards (Weizmann)PLEKHA5
Ensembl hg19 (Hinxton)ENSG00000052126 [Gene_View]  chr12:19282626-19526602 [Contig_View]  PLEKHA5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000052126 [Gene_View]  chr12:19282626-19526602 [Contig_View]  PLEKHA5 [Vega]
ICGC DataPortalENSG00000052126
TCGA cBioPortalPLEKHA5
AceView (NCBI)PLEKHA5
Genatlas (Paris)PLEKHA5
WikiGenes54477
SOURCE (Princeton)PLEKHA5
Genetics Home Reference (NIH)PLEKHA5
Genomic and cartography
GoldenPath hg19 (UCSC)PLEKHA5  -     chr12:19282626-19526602 +  12p12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLEKHA5  -     12p12.3   [Description]    (hg38-Dec_2013)
EnsemblPLEKHA5 - 12p12.3 [CytoView hg19]  PLEKHA5 - 12p12.3 [CytoView hg38]
Mapping of homologs : NCBIPLEKHA5 [Mapview hg19]  PLEKHA5 [Mapview hg38]
OMIM607770   
Gene and transcription
Genbank (Entrez)AB051473 AB642244 AF302150 AJ270694 AK001529
RefSeq transcript (Entrez)NM_001143821 NM_001190860 NM_001256470 NM_001256787 NM_019012
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_009714 NW_004929383
Consensus coding sequences : CCDS (NCBI)PLEKHA5
Cluster EST : UnigeneHs.188614 [ NCBI ]
CGAP (NCI)Hs.188614
Alternative Splicing GalleryENSG00000052126
Gene ExpressionPLEKHA5 [ NCBI-GEO ]   PLEKHA5 [ EBI - ARRAY_EXPRESS ]   PLEKHA5 [ SEEK ]   PLEKHA5 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54477
GTEX Portal (Tissue expression)PLEKHA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HAU0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HAU0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HAU0
Splice isoforms : SwissVarQ9HAU0
PhosPhoSitePlusQ9HAU0
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    WW_dom   
Domain families : Pfam (Sanger)PH (PF00169)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00169    pfam00397   
Domain families : Smart (EMBL)PH (SM00233)  WW (SM00456)  
Conserved Domain (NCBI)PLEKHA5
DMDM Disease mutations54477
Blocks (Seattle)PLEKHA5
PDB (SRS)2DKP   
PDB (PDBSum)2DKP   
PDB (IMB)2DKP   
PDB (RSDB)2DKP   
Structural Biology KnowledgeBase2DKP   
SCOP (Structural Classification of Proteins)2DKP   
CATH (Classification of proteins structures)2DKP   
SuperfamilyQ9HAU0
Human Protein AtlasENSG00000052126
Peptide AtlasQ9HAU0
HPRD09684
IPIIPI00029515   IPI00169401   IPI00409581   IPI00409582   IPI00409583   IPI01015510   IPI00789621   IPI00940562   IPI01011881   IPI00910030   IPI01012367   IPI01009777   
Protein Interaction databases
DIP (DOE-UCLA)Q9HAU0
IntAct (EBI)Q9HAU0
FunCoupENSG00000052126
BioGRIDPLEKHA5
STRING (EMBL)PLEKHA5
ZODIACPLEKHA5
Ontologies - Pathways
QuickGOQ9HAU0
Ontology : AmiGOprotein binding  1-phosphatidylinositol binding  nucleoplasm  cytoplasm  cytosol  biological_process  phosphatidylinositol-5-phosphate binding  membrane  phosphatidylinositol-3-phosphate binding  reproductive system development  phosphatidylinositol-4-phosphate binding  phosphatidylinositol-3,5-bisphosphate binding  
Ontology : EGO-EBIprotein binding  1-phosphatidylinositol binding  nucleoplasm  cytoplasm  cytosol  biological_process  phosphatidylinositol-5-phosphate binding  membrane  phosphatidylinositol-3-phosphate binding  reproductive system development  phosphatidylinositol-4-phosphate binding  phosphatidylinositol-3,5-bisphosphate binding  
NDEx NetworkPLEKHA5
Atlas of Cancer Signalling NetworkPLEKHA5
Wikipedia pathwaysPLEKHA5
Orthology - Evolution
OrthoDB54477
GeneTree (enSembl)ENSG00000052126
Phylogenetic Trees/Animal Genes : TreeFamPLEKHA5
HOVERGENQ9HAU0
HOGENOMQ9HAU0
Homologs : HomoloGenePLEKHA5
Homology/Alignments : Family Browser (UCSC)PLEKHA5
Gene fusions - Rearrangements
Fusion : MitelmanACTG1/PLEKHA5 [17q25.3/12p12.3]  [t(12;17)(p12;q25)]  
Fusion : MitelmanAPLP2/PLEKHA5 [11q24.3/12p12.3]  [t(11;12)(q24;p12)]  
Fusion : MitelmanCASC1/PLEKHA5 [12p12.1/12p12.3]  [t(12;12)(p12;p12)]  
Fusion : MitelmanCPE/PLEKHA5 [4q32.3/12p12.3]  [t(4;12)(q32;p12)]  
Fusion : MitelmanCTTN/PLEKHA5 [11q13.3/12p12.3]  [t(11;12)(q13;p12)]  
Fusion : MitelmanEPS8/PLEKHA5 [12p12.3/12p12.3]  [t(12;12)(p12;p12)]  
Fusion : MitelmanFGB/PLEKHA5 [4q31.3/12p12.3]  [t(4;12)(q31;p12)]  
Fusion : MitelmanHSPH1/PLEKHA5 [13q12.3/12p12.3]  [t(12;13)(p12;q12)]  
Fusion : MitelmanNDRG1/PLEKHA5 [8q24.22/12p12.3]  [t(8;12)(q24;p12)]  
Fusion : MitelmanP4HB/PLEKHA5 [17q25.3/12p12.3]  [t(12;17)(p12;q25)]  
Fusion : MitelmanPLEKHA5/GPC6 [12p12.3/13q31.3]  [t(12;13)(p12;q31)]  
Fusion : MitelmanTSC22D1/PLEKHA5 [13q14.11/12p12.3]  [t(12;13)(p12;q14)]  
Fusion : MitelmanVIM/PLEKHA5 [10p13/12p12.3]  [t(10;12)(p13;p12)]  
Fusion: TCGAACTG1 17q25.3 PLEKHA5 12p12.3 LUAD
Fusion: TCGAAPLP2 11q24.3 PLEKHA5 12p12.3 KIRC
Fusion: TCGACASC1 12p12.1 PLEKHA5 12p12.3 LUAD
Fusion: TCGACPE 4q32.3 PLEKHA5 12p12.3 LGG
Fusion: TCGACTTN 11q13.3 PLEKHA5 12p12.3 BRCA
Fusion: TCGAEPS8 12p12.3 PLEKHA5 12p12.3 OV
Fusion: TCGAFGB 4q31.3 PLEKHA5 12p12.3 LUAD
Fusion: TCGAHSPH1 13q12.3 PLEKHA5 12p12.3 HNSC
Fusion: TCGANDRG1 8q24.22 PLEKHA5 12p12.3 KIRC
Fusion: TCGAP4HB 17q25.3 PLEKHA5 12p12.3 BRCA
Fusion: TCGAPLEKHA5 12p12.3 GPC6 13q31.3 BRCA
Fusion: TCGATSC22D1 13q14.11 PLEKHA5 12p12.3 LUAD
Fusion: TCGAVIM 10p13 PLEKHA5 12p12.3 SKCM
Fusion Cancer (Beijing)A2M [12p13.31]  -  PLEKHA5 [12p12.3]  [FUSC002100]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHA5
dbVarPLEKHA5
ClinVarPLEKHA5
1000_GenomesPLEKHA5 
Exome Variant ServerPLEKHA5
ExAC (Exome Aggregation Consortium)PLEKHA5 (select the gene name)
Genetic variants : HAPMAP54477
Genomic Variants (DGV)PLEKHA5 [DGVbeta]
DECIPHER (Syndromes)12:19282626-19526602  ENSG00000052126
CONAN: Copy Number AnalysisPLEKHA5 
Mutations
ICGC Data PortalPLEKHA5 
TCGA Data PortalPLEKHA5 
Broad Tumor PortalPLEKHA5
OASIS PortalPLEKHA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHA5
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 PLEKHA5
DgiDB (Drug Gene Interaction Database)PLEKHA5
DoCM (Curated mutations)PLEKHA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHA5 (select a term)
intoGenPLEKHA5
Cancer3DPLEKHA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607770   
Orphanet
MedgenPLEKHA5
Genetic Testing Registry PLEKHA5
NextProtQ9HAU0 [Medical]
TSGene54477
GENETestsPLEKHA5
Huge Navigator PLEKHA5 [HugePedia]
snp3D : Map Gene to Disease54477
BioCentury BCIQPLEKHA5
ClinGenPLEKHA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54477
Chemical/Pharm GKB GenePA134949896
Clinical trialPLEKHA5
Miscellaneous
canSAR (ICR)PLEKHA5 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHA5
EVEXPLEKHA5
GoPubMedPLEKHA5
iHOPPLEKHA5
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 15:14:40 CEST 2017

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