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PLEKHF2 (pleckstrin homology and FYVE domain containing 2)

Identity

Alias (NCBI)EAPF
PHAFIN2
ZFYVE18
HGNC (Hugo) PLEKHF2
HGNC Alias symbZFYVE18
PHAFIN2
FLJ13187
HGNC Previous namepleckstrin homology domain containing, family F (with FYVE domain) member 2
LocusID (NCBI) 79666
Atlas_Id 56065
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 95133785 and ends at 95156685 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)
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    pleckstrin homology and FYVE domain containing 2
AliasesEAPF; PHAFIN2; ZFYVE18
GeneCards (Weizmann)PLEKHF2
Ensembl hg19 (Hinxton)ENSG00000175895 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175895 [Gene_View]  ENSG00000175895 [Sequence]  chr8:95133785-95156685 [Contig_View]  PLEKHF2 [Vega]
ICGC DataPortalENSG00000175895
TCGA cBioPortalPLEKHF2
AceView (NCBI)PLEKHF2
Genatlas (Paris)PLEKHF2
SOURCE (Princeton)PLEKHF2
Genetics Home Reference (NIH)PLEKHF2
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHF2  -     chr8:95133785-95156685 +  8q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHF2  -     8q22.1   [Description]    (hg19-Feb_2009)
GoldenPathPLEKHF2 - 8q22.1 [CytoView hg19]  PLEKHF2 - 8q22.1 [CytoView hg38]
ImmunoBaseENSG00000175895
Genome Data Viewer NCBIPLEKHF2 [Mapview hg19]  
OMIM615208   
Gene and transcription
Genbank (Entrez)AA767886 AF434819 AK023249 AL834473 BC011806
RefSeq transcript (Entrez)NM_024613
Consensus coding sequences : CCDS (NCBI)PLEKHF2
Gene ExpressionPLEKHF2 [ NCBI-GEO ]   PLEKHF2 [ EBI - ARRAY_EXPRESS ]   PLEKHF2 [ SEEK ]   PLEKHF2 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHF2 [ Firebrowse - Broad ]
GenevisibleExpression of PLEKHF2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79666
GTEX Portal (Tissue expression)PLEKHF2
Human Protein AtlasENSG00000175895-PLEKHF2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9H8W4
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_domain    PH_Phafin    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
SuperfamilyQ9H8W4
AlphaFold pdb e-kbQ9H8W4   
Human Protein Atlas [tissue]ENSG00000175895-PLEKHF2 [tissue]
HPRD15147
Protein Interaction databases
DIP (DOE-UCLA)Q9H8W4
IntAct (EBI)Q9H8W4
BioGRIDPLEKHF2
STRING (EMBL)PLEKHF2
ZODIACPLEKHF2
Ontologies - Pathways
QuickGOQ9H8W4
Ontology : AmiGOprotein binding  endoplasmic reticulum  protein transport  transport vesicle  early endosome membrane  phosphatidylinositol binding  metal ion binding  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  protein transport  transport vesicle  early endosome membrane  phosphatidylinositol binding  metal ion binding  
NDEx NetworkPLEKHF2
Atlas of Cancer Signalling NetworkPLEKHF2
Wikipedia pathwaysPLEKHF2
Orthology - Evolution
OrthoDB79666
GeneTree (enSembl)ENSG00000175895
Phylogenetic Trees/Animal Genes : TreeFamPLEKHF2
Homologs : HomoloGenePLEKHF2
Homology/Alignments : Family Browser (UCSC)PLEKHF2
Gene fusions - Rearrangements
Fusion : QuiverPLEKHF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHF2
dbVarPLEKHF2
ClinVarPLEKHF2
MonarchPLEKHF2
1000_GenomesPLEKHF2 
Exome Variant ServerPLEKHF2
GNOMAD BrowserENSG00000175895
Varsome BrowserPLEKHF2
ACMGPLEKHF2 variants
VarityQ9H8W4
Genomic Variants (DGV)PLEKHF2 [DGVbeta]
DECIPHERPLEKHF2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DPLEKHF2
Mutations and Diseases : HGMDPLEKHF2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPLEKHF2
DgiDB (Drug Gene Interaction Database)PLEKHF2
DoCM (Curated mutations)PLEKHF2
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHF2
Cancer3DPLEKHF2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615208   
Orphanet
DisGeNETPLEKHF2
MedgenPLEKHF2
Genetic Testing Registry PLEKHF2
NextProtQ9H8W4 [Medical]
GENETestsPLEKHF2
Target ValidationPLEKHF2
Huge Navigator PLEKHF2 [HugePedia]
ClinGenPLEKHF2
Clinical trials, drugs, therapy
MyCancerGenomePLEKHF2
Protein Interactions : CTDPLEKHF2
Pharm GKB GenePA128394715
PharosQ9H8W4
Clinical trialPLEKHF2
Miscellaneous
canSAR (ICR)PLEKHF2
HarmonizomePLEKHF2
DataMed IndexPLEKHF2
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPLEKHF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:25:41 CEST 2021

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