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PLEKHH2 (pleckstrin homology, MyTH4 and FERM domain containing H2)

Identity

Alias_namespleckstrin homology domain containing
Alias_symbol (synonym)KIAA2028
PLEKHH1L
Other alias
HGNC (Hugo) PLEKHH2
LocusID (NCBI) 130271
Atlas_Id 54543
Location 2p21  [Link to chromosome band 2p21]
Location_base_pair Starts at 43637300 and ends at 43767987 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MTIF2 (2p16.1) / PLEKHH2 (2p21)PLEKHH2 (2p21) / VSNL1 (2p24.2)PLEKHH2 2p21 / VSNL1 2p24.2

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)PLEKHH2   30506
Cards
Entrez_Gene (NCBI)PLEKHH2  130271  pleckstrin homology, MyTH4 and FERM domain containing H2
AliasesPLEKHH1L
GeneCards (Weizmann)PLEKHH2
Ensembl hg19 (Hinxton)ENSG00000152527 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152527 [Gene_View]  chr2:43637300-43767987 [Contig_View]  PLEKHH2 [Vega]
ICGC DataPortalENSG00000152527
TCGA cBioPortalPLEKHH2
AceView (NCBI)PLEKHH2
Genatlas (Paris)PLEKHH2
WikiGenes130271
SOURCE (Princeton)PLEKHH2
Genetics Home Reference (NIH)PLEKHH2
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHH2  -     chr2:43637300-43767987 +  2p21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHH2  -     2p21   [Description]    (hg19-Feb_2009)
EnsemblPLEKHH2 - 2p21 [CytoView hg19]  PLEKHH2 - 2p21 [CytoView hg38]
Mapping of homologs : NCBIPLEKHH2 [Mapview hg19]  PLEKHH2 [Mapview hg38]
OMIM612723   
Gene and transcription
Genbank (Entrez)AB095948 AK124381 AK126308 AL832207 AL833400
RefSeq transcript (Entrez)NM_172069
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHH2
Cluster EST : UnigeneHs.164162 [ NCBI ]
CGAP (NCI)Hs.164162
Alternative Splicing GalleryENSG00000152527
Gene ExpressionPLEKHH2 [ NCBI-GEO ]   PLEKHH2 [ EBI - ARRAY_EXPRESS ]   PLEKHH2 [ SEEK ]   PLEKHH2 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)130271
GTEX Portal (Tissue expression)PLEKHH2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IVE3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IVE3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IVE3
Splice isoforms : SwissVarQ8IVE3
PhosPhoSitePlusQ8IVE3
Domaine pattern : Prosite (Expaxy)FERM_3 (PS50057)    MYTH4 (PS51016)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_domain    MyTH4_dom    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)FERM_M (PF00373)    MyTH4 (PF00784)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam00373    pfam00784    pfam00169   
Domain families : Smart (EMBL)B41 (SM00295)  MyTH4 (SM00139)  PH (SM00233)  
Conserved Domain (NCBI)PLEKHH2
DMDM Disease mutations130271
Blocks (Seattle)PLEKHH2
SuperfamilyQ8IVE3
Human Protein AtlasENSG00000152527
Peptide AtlasQ8IVE3
HPRD15149
IPIIPI00409758   IPI00867619   IPI00867744   IPI00974075   IPI00980942   
Protein Interaction databases
DIP (DOE-UCLA)Q8IVE3
IntAct (EBI)Q8IVE3
FunCoupENSG00000152527
BioGRIDPLEKHH2
STRING (EMBL)PLEKHH2
ZODIACPLEKHH2
Ontologies - Pathways
QuickGOQ8IVE3
Ontology : AmiGOactin binding  protein binding  cytoplasm  plasma membrane  lamellipodium  negative regulation of actin filament depolymerization  cortical actin cytoskeleton  identical protein binding  
Ontology : EGO-EBIactin binding  protein binding  cytoplasm  plasma membrane  lamellipodium  negative regulation of actin filament depolymerization  cortical actin cytoskeleton  identical protein binding  
NDEx NetworkPLEKHH2
Atlas of Cancer Signalling NetworkPLEKHH2
Wikipedia pathwaysPLEKHH2
Orthology - Evolution
OrthoDB130271
GeneTree (enSembl)ENSG00000152527
Phylogenetic Trees/Animal Genes : TreeFamPLEKHH2
HOVERGENQ8IVE3
HOGENOMQ8IVE3
Homologs : HomoloGenePLEKHH2
Homology/Alignments : Family Browser (UCSC)PLEKHH2
Gene fusions - Rearrangements
Fusion : MitelmanMTIF2/PLEKHH2 [2p16.1/2p21]  [t(2;2)(p16;p21)]  
Fusion : MitelmanPLEKHH2/VSNL1 [2p21/2p24.2]  [t(2;2)(p21;p24)]  
Fusion: TCGAPLEKHH2 2p21 VSNL1 2p24.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHH2
dbVarPLEKHH2
ClinVarPLEKHH2
1000_GenomesPLEKHH2 
Exome Variant ServerPLEKHH2
ExAC (Exome Aggregation Consortium)PLEKHH2 (select the gene name)
Genetic variants : HAPMAP130271
Genomic Variants (DGV)PLEKHH2 [DGVbeta]
DECIPHERPLEKHH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHH2 
Mutations
ICGC Data PortalPLEKHH2 
TCGA Data PortalPLEKHH2 
Broad Tumor PortalPLEKHH2
OASIS PortalPLEKHH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHH2
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 PLEKHH2
DgiDB (Drug Gene Interaction Database)PLEKHH2
DoCM (Curated mutations)PLEKHH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHH2 (select a term)
intoGenPLEKHH2
Cancer3DPLEKHH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612723   
Orphanet
MedgenPLEKHH2
Genetic Testing Registry PLEKHH2
NextProtQ8IVE3 [Medical]
TSGene130271
GENETestsPLEKHH2
Target ValidationPLEKHH2
Huge Navigator PLEKHH2 [HugePedia]
snp3D : Map Gene to Disease130271
BioCentury BCIQPLEKHH2
ClinGenPLEKHH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD130271
Chemical/Pharm GKB GenePA134912826
Clinical trialPLEKHH2
Miscellaneous
canSAR (ICR)PLEKHH2 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHH2
EVEXPLEKHH2
GoPubMedPLEKHH2
iHOPPLEKHH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:10:55 CEST 2017

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