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    PLEKHF2 pleckstrin homology and FYVE domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 79666, updated on 11-Jun-2021

    Summary

    Official Symbol
    PLEKHF2provided by HGNC
    Official Full Name
    pleckstrin homology and FYVE domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:20757
    See related
    Ensembl:ENSG00000175895 MIM:615208
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EAPF; PHAFIN2; ZFYVE18
    Expression
    Broad expression in bone marrow (RPKM 31.1), lymph node (RPKM 29.6) and 24 other tissues See more
    Orthologs
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    Genomic context

    See PLEKHF2 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (95133785..95156685)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (96146013..96168913)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 6 Neighboring gene RNA, U6 small nuclear 1209, pseudogene Neighboring gene MIR3150B host gene Neighboring gene microRNA 3150b Neighboring gene microRNA 3150a Neighboring gene CRISPRi-validated cis-regulatory element chr8.2347 Neighboring gene long intergenic non-protein coding RNA 1298

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ13187

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in transport vesicle IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    pleckstrin homology domain-containing family F member 2
    Names
    PH and FYVE domain-containing protein 2
    PH domain-containing family F member 2
    endoplasmic reticulum-associated apoptosis-involved protein containing PH and FYVE domains
    pleckstrin homology domain containing, family F (with FYVE domain) member 2
    zinc finger FYVE domain-containing protein 18

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_024613.4NP_078889.1  pleckstrin homology domain-containing family F member 2

      See identical proteins and their annotated locations for NP_078889.1

      Status: VALIDATED

      Source sequence(s)
      AA767886, AC018801, AL834473
      Consensus CDS
      CCDS6267.1
      UniProtKB/Swiss-Prot
      Q9H8W4
      Related
      ENSP00000322373.3, ENST00000315367.4
      Conserved Domains (2) summary
      cd01218
      Location:7129
      PH_Phafin2-like; Phafin2 (also called EAPF, FLJ13187, ZFYVE18 or PLEKHF2) Pleckstrin Homology (PH) domain
      cd15755
      Location:148211
      FYVE_PKHF2; FYVE domain found in protein containing both PH and FYVE domains 2 (phafin-2) and similar proteins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      95133785..95156685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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