PLEKHF2 (pleckstrin homology and FYVE domain containing 2)

2016-10-01 Affiliation

Identity

HGNC

PLEKHF2

LOCATION

8q22.1

LOCUSID

79666

ALIAS

EAPF,PHAFIN2,ZFYVE18

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000175895	ENST00000315367	Q9H8W4
ENSG00000175895	ENST00000519516	Q9H8W4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34772942	2021	The phosphoinositide coincidence detector Phafin2 promotes macropinocytosis by coordinating actin organisation at forming macropinosomes.	11
34772942	2021	The phosphoinositide coincidence detector Phafin2 promotes macropinocytosis by coordinating actin organisation at forming macropinosomes.	11
32126233	2020	The C-terminal acidic motif of Phafin2 inhibits PH domain binding to phosphatidylinositol 3-phosphate.	6
32619574	2020	Bioinformatics analysis of the genes involved in the extension of prostate cancer to adjacent lymph nodes by supervised and unsupervised machine learning methods: The role of SPAG1 and PLEKHF2.	11
32126233	2020	The C-terminal acidic motif of Phafin2 inhibits PH domain binding to phosphatidylinositol 3-phosphate.	6
32619574	2020	Bioinformatics analysis of the genes involved in the extension of prostate cancer to adjacent lymph nodes by supervised and unsupervised machine learning methods: The role of SPAG1 and PLEKHF2.	11
28152563	2017	Structural, thermodynamic, and phosphatidylinositol 3-phosphate binding properties of Phafin2.	6
28152563	2017	Structural, thermodynamic, and phosphatidylinositol 3-phosphate binding properties of Phafin2.	6
24416124	2014	Lysosomal interaction of Akt with Phafin2: a critical step in the induction of autophagy.	28
24416124	2014	Lysosomal interaction of Akt with Phafin2: a critical step in the induction of autophagy.	28
22816767	2012	The PtdIns3P-binding protein Phafin 2 mediates epidermal growth factor receptor degradation by promoting endosome fusion.	16
22816767	2012	The PtdIns3P-binding protein Phafin 2 mediates epidermal growth factor receptor degradation by promoting endosome fusion.	16
19995552	2010	Phafin2 modulates the structure and function of endosomes by a Rab5-dependent mechanism.	8
19995552	2010	Phafin2 modulates the structure and function of endosomes by a Rab5-dependent mechanism.	8
18288467	2008	EAPF/Phafin-2, a novel endoplasmic reticulum-associated protein, facilitates TNF-alpha-triggered cellular apoptosis through endoplasmic reticulum-mitochondrial apoptotic pathway.	10

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/js/welcome