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Aliases for PLEKHF2 Gene

Aliases for PLEKHF2 Gene

  • Pleckstrin Homology And FYVE Domain Containing 2 2 3 5
  • Endoplasmic Reticulum-Associated Apoptosis-Involved Protein Containing PH And FYVE Domains 3 4
  • Pleckstrin Homology Domain Containing, Family F (With FYVE Domain) Member 2 2 3
  • Zinc Finger FYVE Domain-Containing Protein 18 3 4
  • PH And FYVE Domain-Containing Protein 2 3 4
  • PH Domain-Containing Family F Member 2 3 4
  • PHAFIN2 3 4
  • ZFYVE18 3 4
  • EAPF 3 4
  • Pleckstrin Homology Domain-Containing Family F Member 2 3
  • Phafin-2 4

External Ids for PLEKHF2 Gene

Previous GeneCards Identifiers for PLEKHF2 Gene

  • GC08P096117
  • GC08P095814
  • GC08P096102
  • GC08P096215
  • GC08P091353

Summaries for PLEKHF2 Gene

GeneCards Summary for PLEKHF2 Gene

PLEKHF2 (Pleckstrin Homology And FYVE Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is PLEKHF1.

UniProtKB/Swiss-Prot for PLEKHF2 Gene

  • May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport. Enhances cellular sensitivity to TNF-induced apoptosis (PubMed:18288467).

Gene Wiki entry for PLEKHF2 Gene

Additional gene information for PLEKHF2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHF2 Gene

Genomics for PLEKHF2 Gene

Regulatory Elements for PLEKHF2 Gene

Enhancers for PLEKHF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H095089 1.9 FANTOM5 Ensembl ENCODE dbSUPER 37.3 -41.7 -41724 4 HDGF PKNOX1 ARNT YBX1 ZNF766 FOS JUNB REST SMARCB1 ZNF592 PLEKHF2 MIR3150BHG RNU6-1209P INTS8 ENSG00000254248
GH08H095071 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.2 -59.6 -59562 5 HDGF PKNOX1 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 ETS1 TCF12 MIR3150BHG INTS8 PLEKHF2 VIRMA MIR3150B ENSG00000254248
GH08H095181 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +48.1 48114 1 SOX13 FOXA2 CEBPG BATF ZNF644 THRB GATA2 POLR2A EED NR2F6 PLEKHF2 ENSG00000254248 C8orf37-AS1 GC08P095140
GH08H095098 1.6 Ensembl ENCODE dbSUPER 12.5 -32.9 -32914 3 PKNOX1 ATF1 FOXA2 MLX ARID4B SIN3A TCF12 ZNF766 GATA2 ELK1 PLEKHF2 MIR3150BHG ESRP1 ENSG00000254248
GH08H095209 1.5 Ensembl ENCODE dbSUPER 11.8 +78.6 78597 5 HDGF PKNOX1 FOXA2 ATF1 SIN3A DMAP1 ZBTB7B TCF12 GATA2 ZNF207 PLEKHF2 TP53INP1 GC08M095215 C8orf37-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLEKHF2 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000227273 780 3000 PKNOX1 ARNT ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF143 ZNF207 FOS

Genomic Location for PLEKHF2 Gene

Chromosome:
8
Start:
95,133,721 bp from pter
End:
95,156,685 bp from pter
Size:
22,965 bases
Orientation:
Plus strand

Genomic View for PLEKHF2 Gene

Genes around PLEKHF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHF2 Gene

Proteins for PLEKHF2 Gene

  • Protein details for PLEKHF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8W4-PKHF2_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family F member 2
    Protein Accession:
    Q9H8W4

    Protein attributes for PLEKHF2 Gene

    Size:
    249 amino acids
    Molecular mass:
    27798 Da
    Quaternary structure:
    • May interact with EEA1.

neXtProt entry for PLEKHF2 Gene

Post-translational modifications for PLEKHF2 Gene

  • Ubiquitination at posLast=4444
  • Modification sites at PhosphoSitePlus

Other Protein References for PLEKHF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLEKHF2 Gene

Domains & Families for PLEKHF2 Gene

Gene Families for PLEKHF2 Gene

Suggested Antigen Peptide Sequences for PLEKHF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H8W4

UniProtKB/Swiss-Prot:

PKHF2_HUMAN :
  • The PH and FYVE domains may be important for TNF-induced localization to the endoplasmic reticulum and for enhanced cellular sensitivity to TNF-induced apoptosis (PubMed:18288467). The FYVE domain is important for binding to the endosomal membrane.
Domain:
  • The PH and FYVE domains may be important for TNF-induced localization to the endoplasmic reticulum and for enhanced cellular sensitivity to TNF-induced apoptosis (PubMed:18288467). The FYVE domain is important for binding to the endosomal membrane.
genes like me logo Genes that share domains with PLEKHF2: view

Function for PLEKHF2 Gene

Molecular function for PLEKHF2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport. Enhances cellular sensitivity to TNF-induced apoptosis (PubMed:18288467).
UniProtKB/Swiss-Prot Induction:
Up-regulated by TNF, bacterial lipopolysaccharides (LPS) and phorbol myristate acetate (PMA) (at protein level).

Phenotypes From GWAS Catalog for PLEKHF2 Gene

Gene Ontology (GO) - Molecular Function for PLEKHF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PLEKHF2: view

Phenotypes for PLEKHF2 Gene

genes like me logo Genes that share phenotypes with PLEKHF2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLEKHF2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHF2 Gene

Localization for PLEKHF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHF2 Gene

Early endosome membrane; Peripheral membrane protein. Endoplasmic reticulum. Note=Colocalizes with EEA1 and RAB5 at endosomal membrane fusion hot spots (PubMed:19995552). May translocate to the endoplasmic reticulum in the early phase of apoptosis (PubMed:18288467). {ECO:0000269 PubMed:18288467, ECO:0000269 PubMed:19995552}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHF2 gene
Compartment Confidence
endosome 4
endoplasmic reticulum 3
nucleus 2
lysosome 1

Gene Ontology (GO) - Cellular Components for PLEKHF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0030133 transport vesicle IDA --
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with PLEKHF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLEKHF2 Gene

Pathways & Interactions for PLEKHF2 Gene

SuperPathways for PLEKHF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with PLEKHF2: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHF2 Gene

Drugs & Compounds for PLEKHF2 Gene

No Compound Related Data Available

Transcripts for PLEKHF2 Gene

mRNA/cDNA for PLEKHF2 Gene

Unigene Clusters for PLEKHF2 Gene

Pleckstrin homology domain containing, family F (with FYVE domain) member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLEKHF2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHF2 Gene

No ASD Table

Relevant External Links for PLEKHF2 Gene

GeneLoc Exon Structure for
PLEKHF2
ECgene alternative splicing isoforms for
PLEKHF2

Expression for PLEKHF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEKHF2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.8), Blymphocyte (13.1), and Placenta (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLEKHF2 Gene



Protein tissue co-expression partners for PLEKHF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEKHF2 Gene:

PLEKHF2

SOURCE GeneReport for Unigene cluster for PLEKHF2 Gene:

Hs.29724

mRNA Expression by UniProt/SwissProt for PLEKHF2 Gene:

Q9H8W4-PKHF2_HUMAN
Tissue specificity: Expressed in placenta, ovary and small intestine, as well as in heart and pancreas. Also expressed in peripheral blood mononuclear cells and dendritic cells.

Evidence on tissue expression from TISSUES for PLEKHF2 Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with PLEKHF2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHF2 Gene

Orthologs for PLEKHF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHF2 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia PLEKHF2 33 34
  • 95.85 (n)
dog
(Canis familiaris)
Mammalia LOC102153293 33
  • 93.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHF2 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhf2 33 16 34
  • 90.11 (n)
rat
(Rattus norvegicus)
Mammalia Plekhf2 33
  • 88.56 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHF2 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHF2 33 34
  • 84.75 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHF2 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhf2 33
  • 76.55 (n)
Str.10209 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1650 33
zebrafish
(Danio rerio)
Actinopterygii plekhf2 33 34
  • 70.8 (n)
zgc56073 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010307 33
  • 66.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta rush 33 34
  • 60.51 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK632.12 33 34
  • 62.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7562 33
Species where no ortholog for PLEKHF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLEKHF2 Gene

ENSEMBL:
Gene Tree for PLEKHF2 (if available)
TreeFam:
Gene Tree for PLEKHF2 (if available)

Paralogs for PLEKHF2 Gene

Paralogs for PLEKHF2 Gene

(2) SIMAP similar genes for PLEKHF2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PLEKHF2: view

Variants for PLEKHF2 Gene

Sequence variations from dbSNP and Humsavar for PLEKHF2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000352980 -- 95,138,720(+) TATTT(A/G)ATAAA intron-variant
rs1000416897 -- 95,152,636(+) GTTTG(A/G)AACCA intron-variant
rs1000465072 -- 95,147,628(+) GCGAA(C/T)TATTT intron-variant
rs1000519722 -- 95,133,831(+) GGCGG(A/G)GGAGT utr-variant-5-prime
rs1000612339 -- 95,148,199(+) TAAAG(-/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHF2 Gene

Variant ID Type Subtype PubMed ID
nsv819397 CNV loss 19587683
nsv951459 CNV duplication 24416366

Variation tolerance for PLEKHF2 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLEKHF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHF2 Gene

Disorders for PLEKHF2 Gene

Relevant External Links for PLEKHF2

Genetic Association Database (GAD)
PLEKHF2
Human Genome Epidemiology (HuGE) Navigator
PLEKHF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHF2

No disorders were found for PLEKHF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHF2 Gene

Publications for PLEKHF2 Gene

  1. EAPF/Phafin-2, a novel endoplasmic reticulum-associated protein, facilitates TNF-alpha-triggered cellular apoptosis through endoplasmic reticulum-mitochondrial apoptotic pathway. (PMID: 18288467) Li C … Cao X (Journal of molecular medicine (Berlin, Germany) 2008) 3 4 22 60
  2. The PtdIns3P-binding protein Phafin 2 mediates epidermal growth factor receptor degradation by promoting endosome fusion. (PMID: 22816767) Pedersen NM … Stenmark H (Traffic (Copenhagen, Denmark) 2012) 3 4 60
  3. Phafin2 modulates the structure and function of endosomes by a Rab5-dependent mechanism. (PMID: 19995552) Lin WJ … Lin CH (Biochemical and biophysical research communications 2010) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for PLEKHF2 Gene

Sources for PLEKHF2 Gene

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