Plekhf2 pleckstrin homology domain containing, family F (with FYVE domain) member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Plekhf2provided by MGI
Official Full Name: pleckstrin homology domain containing, family F (with FYVE domain) member 2provided by MGI
Primary source: MGI:MGI:1919051
See related: Ensembl:ENSMUSG00000049969 AllianceGenome:MGI:1919051
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ZFYVE18; 1110070J07Rik
Summary: Predicted to enable phosphatidylinositol binding activity. Predicted to act upstream of or within protein transport. Predicted to be located in transport vesicle. Is expressed in bladder; male associated reproductive structure; testis; and urethra of male. Orthologous to human PLEKHF2 (pleckstrin homology and FYVE domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 15.0), liver E14 (RPKM 7.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A1; 4 4.86 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (10988662..11007619, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (10988662..11007619, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings establish that lysosomal accumulation of Akt and Phafin2 is a critical step in the induction of autophagy via an interaction with phosphatidylinositol 3 phosphate.
Title: Lysosomal interaction of Akt with Phafin2: a critical step in the induction of autophagy.
Results demonstrate that EAPF/Phafin-2 facilitates TNF-alpha-induced cellular apoptosis through an ER-mitochondrial apoptotic pathway.
Title: EAPF/Phafin-2, a novel endoplasmic reticulum-associated protein, facilitates TNF-alpha-triggered cellular apoptosis through endoplasmic reticulum-mitochondrial apoptotic pathway.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:234866

AA673237 (e-PCR)
- UniSTS:159213

RH124455 (e-PCR)
- UniSTS:161277

Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
involved_in endosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosome to lysosome transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in transport vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pleckstrin homology domain-containing family F member 2

Names: PH domain-containing family F member 2

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)

NM_175175.4 → NP_780384.1 pleckstrin homology domain-containing family F member 2

See identical proteins and their annotated locations for NP_780384.1

Status: VALIDATED

Source sequence(s)

AK033666, BC016134, BY167298

Consensus CDS

CCDS17962.1

UniProtKB/Swiss-Prot

Q91WB4

Related

ENSMUSP00000054745.4, ENSMUST00000054776.4

Conserved Domains (3) summary

cd01218
Location:7 → 129

PH_Phafin2-like; Phafin2 (also called EAPF, FLJ13187, ZFYVE18 or PLEKHF2) Pleckstrin Homology (PH) domain

cd15755
Location:148 → 211

FYVE_PKHF2; FYVE domain found in protein containing both PH and FYVE domains 2 (phafin-2) and similar proteins

pfam00169
Location:39 → 130

PH; PH domain