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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

No data available for Entrez Gene 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
GH08F095085 1.7 FANTOM5 Ensembl ENCODE 37.3 -42.7 -42743 11.2 HDGF PKNOX1 ARNT CREB3L1 YBX1 FEZF1 ZNF207 FOS ZHX2 JUNB PLEKHF2 MIR3150B RNU6-1209P INTS8 DPY19L4 ENSG00000254248
GH08F095178 1.4 FANTOM5 Ensembl ENCODE 22.9 +47.2 47180 5.8 SOX13 ZNF146 ESRRA USF1 TSC22D4 ZNF384 CEBPG THRB ZNF48 ZNF644 PLEKHF2 ENSG00000254248 C8orf37-AS1 GC08P095140
GH08F095071 1.6 FANTOM5 Ensembl ENCODE 17.2 -59.6 -59566 5.5 HDGF PKNOX1 ATF1 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 FOS MIR3150B PLEKHF2 INTS8 ENSG00000254248
GH08F095117 1 FANTOM5 ENCODE 16.9 -16.1 -16050 0.3 ZNF316 EED JUNB ETV6 EMSY CREM SPI1 PLEKHF2 ENSG00000254248
GH08F095120 0.7 FANTOM5 22.4 -12.7 -12677 0.2 CTCF ZNF692 ZNF366 IKZF1 JUNB PRDM1 ZBTB17 PLEKHF2 ENSG00000254248
- 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
ENSR00001396647 1479 4401 WRNIP1 ARID4B SIN3A YY1 ZNF207 FOS KLF13 SP3 SP5 MXD4

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 Lys 44
  • 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

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.
  • Contains 1 FYVE-type zinc finger.
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.
  • Contains 1 PH domain.
Similarity:
  • Contains 1 FYVE-type zinc finger.
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).

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with PLEKHF2: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia PLEKHF2 34 35
  • 95.85 (n)
dog
(Canis familiaris)
Mammalia LOC102153293 34
  • 93.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHF2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhf2 34 16 35
  • 90.11 (n)
rat
(Rattus norvegicus)
Mammalia Plekhf2 34
  • 88.56 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHF2 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHF2 34 35
  • 84.75 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHF2 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhf2 34
  • 76.55 (n)
Str.10209 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1650 34
zebrafish
(Danio rerio)
Actinopterygii plekhf2 34 35
  • 70.8 (n)
zgc56073 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010307 34
  • 66.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta rush 34 35
  • 60.51 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK632.12 34 35
  • 62.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7562 34
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
rs10088488 -- 95,150,294(+) AGGAC(C/G)AAAAA intron-variant
rs10092259 -- 95,145,872(+) TATTT(G/T)TTCAT intron-variant
rs10099012 -- 95,156,512(+) ACATA(A/T)AATCA utr-variant-3-prime
rs10101612 -- 95,148,283(+) atttt(C/G)gaccc intron-variant
rs10104137 -- 95,145,224(+) AATAC(A/C)TTTAA 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. (J. Mol. Med. 2008) 3 4 22 64
  2. The PtdIns3P-binding protein Phafin 2 mediates epidermal growth factor receptor degradation by promoting endosome fusion. (PMID: 22816767) Pedersen N.M. … Stenmark H. (Traffic 2012) 3 4 64
  3. Phafin2 modulates the structure and function of endosomes by a Rab5-dependent mechanism. (PMID: 19995552) Lin W.J. … Lin C.H. (Biochem. Biophys. Res. Commun. 2010) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PLEKHF2 Gene

Sources for PLEKHF2 Gene

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