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PLEKHM2 (pleckstrin homology and RUN domain containing M2)

Identity

Alias_namespleckstrin homology domain containing, family M (with RUN domain) member 2
Alias_symbol (synonym)KIAA0842
Other aliasSKIP
HGNC (Hugo) PLEKHM2
LocusID (NCBI) 23207
Atlas_Id 54544
Location 1p36.21  [Link to chromosome band 1p36]
Location_base_pair Starts at 15684303 and ends at 15734769 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)
PLEC (8q24.3) / PLEKHM2 (1p36.21)PLEKHM2 (1p36.21) / TMEM51 (1p36.21)PLEKHM2 (1p36.21) / ZSWIM5 (1p34.1)
PLEKHM2 1p36.21 / TMEM51 1p36.21PLEKHM2 1p36.21 / ZSWIM5 1p34.1

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(1;1)(p34;p36) PLEKHM2/ZSWIM5
PLEKHM2/TMEM51 (1p36)
t(1;8)(p36;q24) PLEC/PLEKHM2

External links

Nomenclature
HGNC (Hugo)PLEKHM2   29131
Cards
Entrez_Gene (NCBI)PLEKHM2  23207  pleckstrin homology and RUN domain containing M2
AliasesSKIP
GeneCards (Weizmann)PLEKHM2
Ensembl hg19 (Hinxton)ENSG00000116786 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116786 [Gene_View]  ENSG00000116786 [Sequence]  chr1:15684303-15734769 [Contig_View]  PLEKHM2 [Vega]
ICGC DataPortalENSG00000116786
TCGA cBioPortalPLEKHM2
AceView (NCBI)PLEKHM2
Genatlas (Paris)PLEKHM2
WikiGenes23207
SOURCE (Princeton)PLEKHM2
Genetics Home Reference (NIH)PLEKHM2
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHM2  -     chr1:15684303-15734769 +  1p36.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHM2  -     1p36.21   [Description]    (hg19-Feb_2009)
GoldenPathPLEKHM2 - 1p36.21 [CytoView hg19]  PLEKHM2 - 1p36.21 [CytoView hg38]
ImmunoBaseENSG00000116786
Mapping of homologs : NCBIPLEKHM2 [Mapview hg19]  PLEKHM2 [Mapview hg38]
OMIM609613   
Gene and transcription
Genbank (Entrez)AB020649 AK304875 AL137297 BC008002 BC016488
RefSeq transcript (Entrez)NM_015164
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHM2
Cluster EST : UnigeneHs.646775 [ NCBI ]
CGAP (NCI)Hs.646775
Alternative Splicing GalleryENSG00000116786
Gene ExpressionPLEKHM2 [ NCBI-GEO ]   PLEKHM2 [ EBI - ARRAY_EXPRESS ]   PLEKHM2 [ SEEK ]   PLEKHM2 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23207
GTEX Portal (Tissue expression)PLEKHM2
Human Protein AtlasENSG00000116786-PLEKHM2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWE5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWE5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWE5
Splice isoforms : SwissVarQ8IWE5
PhosPhoSitePlusQ8IWE5
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RUN (PS50826)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_domain    Run_dom    Run_dom_sf   
Domain families : Pfam (Sanger)PH (PF00169)    RUN (PF02759)   
Domain families : Pfam (NCBI)pfam00169    pfam02759   
Domain families : Smart (EMBL)PH (SM00233)  RUN (SM00593)  
Conserved Domain (NCBI)PLEKHM2
DMDM Disease mutations23207
Blocks (Seattle)PLEKHM2
PDB (RSDB)3CXB    3HW2    3ZFW   
PDB Europe3CXB    3HW2    3ZFW   
PDB (PDBSum)3CXB    3HW2    3ZFW   
PDB (IMB)3CXB    3HW2    3ZFW   
Structural Biology KnowledgeBase3CXB    3HW2    3ZFW   
SCOP (Structural Classification of Proteins)3CXB    3HW2    3ZFW   
CATH (Classification of proteins structures)3CXB    3HW2    3ZFW   
SuperfamilyQ8IWE5
Human Protein Atlas [tissue]ENSG00000116786-PLEKHM2 [tissue]
Peptide AtlasQ8IWE5
IPIIPI00217283   IPI00979539   IPI00640759   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWE5
IntAct (EBI)Q8IWE5
FunCoupENSG00000116786
BioGRIDPLEKHM2
STRING (EMBL)PLEKHM2
ZODIACPLEKHM2
Ontologies - Pathways
QuickGOQ8IWE5
Ontology : AmiGOprotein binding  Golgi organization  Golgi organization  endosome membrane  endosome membrane  kinesin binding  kinesin binding  lysosome localization  lysosome localization  regulation of protein localization  regulation of protein localization  positive regulation of membrane tubulation  positive regulation of membrane tubulation  
Ontology : EGO-EBIprotein binding  Golgi organization  Golgi organization  endosome membrane  endosome membrane  kinesin binding  kinesin binding  lysosome localization  lysosome localization  regulation of protein localization  regulation of protein localization  positive regulation of membrane tubulation  positive regulation of membrane tubulation  
Pathways : KEGGSalmonella infection   
NDEx NetworkPLEKHM2
Atlas of Cancer Signalling NetworkPLEKHM2
Wikipedia pathwaysPLEKHM2
Orthology - Evolution
OrthoDB23207
GeneTree (enSembl)ENSG00000116786
Phylogenetic Trees/Animal Genes : TreeFamPLEKHM2
HOGENOMQ8IWE5
Homologs : HomoloGenePLEKHM2
Homology/Alignments : Family Browser (UCSC)PLEKHM2
Gene fusions - Rearrangements
Fusion : MitelmanPLEC/PLEKHM2 [8q24.3/1p36.21]  [t(1;8)(p36;q24)]  
Fusion : MitelmanPLEKHM2/TMEM51 [1p36.21/1p36.21]  [t(1;1)(p36;p36)]  
Fusion : MitelmanPLEKHM2/ZSWIM5 [1p36.21/1p34.1]  [t(1;1)(p34;p36)]  
Fusion PortalPLEKHM2 1p36.21 TMEM51 1p36.21 GBM
Fusion PortalPLEKHM2 1p36.21 ZSWIM5 1p34.1 BRCA
Fusion : QuiverPLEKHM2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHM2
dbVarPLEKHM2
ClinVarPLEKHM2
1000_GenomesPLEKHM2 
Exome Variant ServerPLEKHM2
ExAC (Exome Aggregation Consortium)ENSG00000116786
GNOMAD BrowserENSG00000116786
Varsome BrowserPLEKHM2
Genetic variants : HAPMAP23207
Genomic Variants (DGV)PLEKHM2 [DGVbeta]
DECIPHERPLEKHM2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHM2 
Mutations
ICGC Data PortalPLEKHM2 
TCGA Data PortalPLEKHM2 
Broad Tumor PortalPLEKHM2
OASIS PortalPLEKHM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHM2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPLEKHM2
Mutations and Diseases : HGMDPLEKHM2
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 PLEKHM2
DgiDB (Drug Gene Interaction Database)PLEKHM2
DoCM (Curated mutations)PLEKHM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHM2 (select a term)
intoGenPLEKHM2
Cancer3DPLEKHM2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609613   
Orphanet
DisGeNETPLEKHM2
MedgenPLEKHM2
Genetic Testing Registry PLEKHM2
NextProtQ8IWE5 [Medical]
TSGene23207
GENETestsPLEKHM2
Target ValidationPLEKHM2
Huge Navigator PLEKHM2 [HugePedia]
snp3D : Map Gene to Disease23207
BioCentury BCIQPLEKHM2
ClinGenPLEKHM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23207
Chemical/Pharm GKB GenePA134888781
Clinical trialPLEKHM2
Miscellaneous
canSAR (ICR)PLEKHM2 (select the gene name)
DataMed IndexPLEKHM2
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHM2
EVEXPLEKHM2
GoPubMedPLEKHM2
iHOPPLEKHM2
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 : Wed Nov 13 18:01:19 CET 2019
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