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

Gene ID: 79666, updated on 17-Jun-2019

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

Genomic context

See PLEKHF2 in Genome Data Viewer
Location:
8q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (95133785..95156685)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (96145949..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 long intergenic non-protein coding RNA 1298 Neighboring gene C8orf37 antisense RNA 1 Neighboring gene chromosome 8 open reading frame 37

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
NHGRI GWA Catalog

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
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
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)

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 Annotation Release 109 details...Open this link in a new tab

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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