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PLEKHA4 (pleckstrin homology domain containing A4)

Identity

Alias_namespleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4
Alias_symbol (synonym)PEPP1
Other alias
HGNC (Hugo) PLEKHA4
LocusID (NCBI) 57664
Atlas_Id 47003
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49340354 and ends at 49371884 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
R3HDM4 (19p13.3) / PLEKHA4 (19q13.33)C19orf22 PLEKHA4 19q13.33

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)PLEKHA4   14339
Cards
Entrez_Gene (NCBI)PLEKHA4  57664  pleckstrin homology domain containing A4
AliasesPEPP1
GeneCards (Weizmann)PLEKHA4
Ensembl hg19 (Hinxton)ENSG00000105559 [Gene_View]  chr19:49340354-49371884 [Contig_View]  PLEKHA4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000105559 [Gene_View]  chr19:49340354-49371884 [Contig_View]  PLEKHA4 [Vega]
ICGC DataPortalENSG00000105559
TCGA cBioPortalPLEKHA4
AceView (NCBI)PLEKHA4
Genatlas (Paris)PLEKHA4
WikiGenes57664
SOURCE (Princeton)PLEKHA4
Genetics Home Reference (NIH)PLEKHA4
Genomic and cartography
GoldenPath hg19 (UCSC)PLEKHA4  -     chr19:49340354-49371884 -  19q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLEKHA4  -     19q13.33   [Description]    (hg38-Dec_2013)
EnsemblPLEKHA4 - 19q13.33 [CytoView hg19]  PLEKHA4 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIPLEKHA4 [Mapview hg19]  PLEKHA4 [Mapview hg38]
OMIM607769   
Gene and transcription
Genbank (Entrez)AB208908 AY007233 BC015956 BC024157 BC025259
RefSeq transcript (Entrez)NM_001161354 NM_020904
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)PLEKHA4
Cluster EST : UnigeneHs.9469 [ NCBI ]
CGAP (NCI)Hs.9469
Alternative Splicing GalleryENSG00000105559
Gene ExpressionPLEKHA4 [ NCBI-GEO ]   PLEKHA4 [ EBI - ARRAY_EXPRESS ]   PLEKHA4 [ SEEK ]   PLEKHA4 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHA4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57664
GTEX Portal (Tissue expression)PLEKHA4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H4M7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H4M7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H4M7
Splice isoforms : SwissVarQ9H4M7
PhosPhoSitePlusQ9H4M7
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)PLEKHA4
DMDM Disease mutations57664
Blocks (Seattle)PLEKHA4
PDB (SRS)1UPQ    1UPR   
PDB (PDBSum)1UPQ    1UPR   
PDB (IMB)1UPQ    1UPR   
PDB (RSDB)1UPQ    1UPR   
Structural Biology KnowledgeBase1UPQ    1UPR   
SCOP (Structural Classification of Proteins)1UPQ    1UPR   
CATH (Classification of proteins structures)1UPQ    1UPR   
SuperfamilyQ9H4M7
Human Protein AtlasENSG00000105559
Peptide AtlasQ9H4M7
HPRD09683
IPIIPI00297116   IPI00410107   IPI00556282   
Protein Interaction databases
DIP (DOE-UCLA)Q9H4M7
IntAct (EBI)Q9H4M7
FunCoupENSG00000105559
BioGRIDPLEKHA4
STRING (EMBL)PLEKHA4
ZODIACPLEKHA4
Ontologies - Pathways
QuickGOQ9H4M7
Ontology : AmiGO1-phosphatidylinositol binding  cellular_component  cytoplasm  biological_process  membrane  
Ontology : EGO-EBI1-phosphatidylinositol binding  cellular_component  cytoplasm  biological_process  membrane  
NDEx NetworkPLEKHA4
Atlas of Cancer Signalling NetworkPLEKHA4
Wikipedia pathwaysPLEKHA4
Orthology - Evolution
OrthoDB57664
GeneTree (enSembl)ENSG00000105559
Phylogenetic Trees/Animal Genes : TreeFamPLEKHA4
HOVERGENQ9H4M7
HOGENOMQ9H4M7
Homologs : HomoloGenePLEKHA4
Homology/Alignments : Family Browser (UCSC)PLEKHA4
Gene fusions - Rearrangements
Fusion : MitelmanR3HDM4/PLEKHA4 [19p13.3/19q13.33]  [t(19;19)(p13;q13)]  
Fusion: TCGAC19orf22 PLEKHA4 19q13.33 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHA4
dbVarPLEKHA4
ClinVarPLEKHA4
1000_GenomesPLEKHA4 
Exome Variant ServerPLEKHA4
ExAC (Exome Aggregation Consortium)PLEKHA4 (select the gene name)
Genetic variants : HAPMAP57664
Genomic Variants (DGV)PLEKHA4 [DGVbeta]
DECIPHER (Syndromes)19:49340354-49371884  ENSG00000105559
CONAN: Copy Number AnalysisPLEKHA4 
Mutations
ICGC Data PortalPLEKHA4 
TCGA Data PortalPLEKHA4 
Broad Tumor PortalPLEKHA4
OASIS PortalPLEKHA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHA4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHA4
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 PLEKHA4
DgiDB (Drug Gene Interaction Database)PLEKHA4
DoCM (Curated mutations)PLEKHA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHA4 (select a term)
intoGenPLEKHA4
Cancer3DPLEKHA4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607769   
Orphanet
MedgenPLEKHA4
Genetic Testing Registry PLEKHA4
NextProtQ9H4M7 [Medical]
TSGene57664
GENETestsPLEKHA4
Huge Navigator PLEKHA4 [HugePedia]
snp3D : Map Gene to Disease57664
BioCentury BCIQPLEKHA4
ClinGenPLEKHA4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57664
Chemical/Pharm GKB GenePA33404
Clinical trialPLEKHA4
Miscellaneous
canSAR (ICR)PLEKHA4 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHA4
EVEXPLEKHA4
GoPubMedPLEKHA4
iHOPPLEKHA4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:45 CET 2017

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