Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PLEKHF2 (pleckstrin homology and FYVE domain containing 2)

Identity

Alias_namespleckstrin homology domain containing
Alias_symbol (synonym)ZFYVE18
PHAFIN2
FLJ13187
Other aliasEAPF
HGNC (Hugo) PLEKHF2
LocusID (NCBI) 79666
Atlas_Id 56065
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 96145949 and ends at 96168913 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DNAJC1 (10p12.31) / PLEKHF2 (8q22.1)PLEKHF2 (8q22.1) / NDUFAF6 (8q22.1)PLEKHF2 (8q22.1) / TP53INP1 (8q22.1)

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)PLEKHF2   20757
Cards
Entrez_Gene (NCBI)PLEKHF2  79666  pleckstrin homology and FYVE domain containing 2
AliasesEAPF; PHAFIN2; ZFYVE18
GeneCards (Weizmann)PLEKHF2
Ensembl hg19 (Hinxton)ENSG00000175895 [Gene_View]  chr8:96145949-96168913 [Contig_View]  PLEKHF2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000175895 [Gene_View]  chr8:96145949-96168913 [Contig_View]  PLEKHF2 [Vega]
ICGC DataPortalENSG00000175895
TCGA cBioPortalPLEKHF2
AceView (NCBI)PLEKHF2
Genatlas (Paris)PLEKHF2
WikiGenes79666
SOURCE (Princeton)PLEKHF2
Genetics Home Reference (NIH)PLEKHF2
Genomic and cartography
GoldenPath hg19 (UCSC)PLEKHF2  -     chr8:96145949-96168913 +  8q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLEKHF2  -     8q22.1   [Description]    (hg38-Dec_2013)
EnsemblPLEKHF2 - 8q22.1 [CytoView hg19]  PLEKHF2 - 8q22.1 [CytoView hg38]
Mapping of homologs : NCBIPLEKHF2 [Mapview hg19]  PLEKHF2 [Mapview hg38]
OMIM615208   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_024613
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHF2
Cluster EST : UnigeneHs.29724 [ NCBI ]
CGAP (NCI)Hs.29724
Alternative Splicing GalleryENSG00000175895
Gene ExpressionPLEKHF2 [ NCBI-GEO ]   PLEKHF2 [ EBI - ARRAY_EXPRESS ]   PLEKHF2 [ SEEK ]   PLEKHF2 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79666
GTEX Portal (Tissue expression)PLEKHF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H8W4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H8W4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H8W4
Splice isoforms : SwissVarQ9H8W4
PhosPhoSitePlusQ9H8W4
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    Znf_FYVE    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYVE (PF01363)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam01363    pfam00169   
Domain families : Smart (EMBL)FYVE (SM00064)  PH (SM00233)  
Conserved Domain (NCBI)PLEKHF2
DMDM Disease mutations79666
Blocks (Seattle)PLEKHF2
SuperfamilyQ9H8W4
Human Protein AtlasENSG00000175895
Peptide AtlasQ9H8W4
HPRD15147
IPIIPI00002424   
Protein Interaction databases
DIP (DOE-UCLA)Q9H8W4
IntAct (EBI)Q9H8W4
FunCoupENSG00000175895
BioGRIDPLEKHF2
STRING (EMBL)PLEKHF2
ZODIACPLEKHF2
Ontologies - Pathways
QuickGOQ9H8W4
Ontology : AmiGOprotein binding  endoplasmic reticulum  protein transport  transport vesicle  early endosome membrane  metal ion binding  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  protein transport  transport vesicle  early endosome membrane  metal ion binding  
NDEx NetworkPLEKHF2
Atlas of Cancer Signalling NetworkPLEKHF2
Wikipedia pathwaysPLEKHF2
Orthology - Evolution
OrthoDB79666
GeneTree (enSembl)ENSG00000175895
Phylogenetic Trees/Animal Genes : TreeFamPLEKHF2
HOVERGENQ9H8W4
HOGENOMQ9H8W4
Homologs : HomoloGenePLEKHF2
Homology/Alignments : Family Browser (UCSC)PLEKHF2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHF2
dbVarPLEKHF2
ClinVarPLEKHF2
1000_GenomesPLEKHF2 
Exome Variant ServerPLEKHF2
ExAC (Exome Aggregation Consortium)PLEKHF2 (select the gene name)
Genetic variants : HAPMAP79666
Genomic Variants (DGV)PLEKHF2 [DGVbeta]
DECIPHER (Syndromes)8:96145949-96168913  ENSG00000175895
CONAN: Copy Number AnalysisPLEKHF2 
Mutations
ICGC Data PortalPLEKHF2 
TCGA Data PortalPLEKHF2 
Broad Tumor PortalPLEKHF2
OASIS PortalPLEKHF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PLEKHF2
DgiDB (Drug Gene Interaction Database)PLEKHF2
DoCM (Curated mutations)PLEKHF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHF2 (select a term)
intoGenPLEKHF2
Cancer3DPLEKHF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615208   
Orphanet
MedgenPLEKHF2
Genetic Testing Registry PLEKHF2
NextProtQ9H8W4 [Medical]
TSGene79666
GENETestsPLEKHF2
Huge Navigator PLEKHF2 [HugePedia]
snp3D : Map Gene to Disease79666
BioCentury BCIQPLEKHF2
ClinGenPLEKHF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79666
Chemical/Pharm GKB GenePA128394715
Clinical trialPLEKHF2
Miscellaneous
canSAR (ICR)PLEKHF2 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHF2
EVEXPLEKHF2
GoPubMedPLEKHF2
iHOPPLEKHF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:14:41 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.