PLEKHF2 (pleckstrin homology and FYVE domain containing 2)

2016-10-01  

Identity

HGNC
LOCATION
8q22.1
LOCUSID
ALIAS
EAPF,PHAFIN2,ZFYVE18
FUSION GENES

Other Information

Locus ID:

NCBI: 79666
MIM: 615208
HGNC: 20757
Ensembl: ENSG00000175895

Variants:

dbSNP: 79666
ClinVar: 79666
TCGA: ENSG00000175895
COSMIC: PLEKHF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175895ENST00000315367Q9H8W4
ENSG00000175895ENST00000519516Q9H8W4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
244161242014Lysosomal interaction of Akt with Phafin2: a critical step in the induction of autophagy.13
228167672012The PtdIns3P-binding protein Phafin 2 mediates epidermal growth factor receptor degradation by promoting endosome fusion.10
182884672008EAPF/Phafin-2, a novel endoplasmic reticulum-associated protein, facilitates TNF-alpha-triggered cellular apoptosis through endoplasmic reticulum-mitochondrial apoptotic pathway.7
199955522010Phafin2 modulates the structure and function of endosomes by a Rab5-dependent mechanism.4
281525632017Structural, thermodynamic, and phosphatidylinositol 3-phosphate binding properties of Phafin2.0

Citation

Dessen P

PLEKHF2 (pleckstrin homology and FYVE domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56065/plekhf2