PACS2 (phosphofurin acidic cluster sorting protein 2)

2012-10-01  

Identity

HGNC
LOCATION
14q32.33
LOCUSID
ALIAS
DEE66,EIEE66,PACS-2,PACS1L
FUSION GENES

Other Information

Locus ID:

NCBI: 23241
MIM: 610423
HGNC: 23794
Ensembl: ENSG00000179364

Variants:

dbSNP: 23241
ClinVar: 23241
TCGA: ENSG00000179364
COSMIC: PACS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179364ENST00000325438Q86VP3
ENSG00000179364ENST00000430725Q86VP3
ENSG00000179364ENST00000447393Q86VP3
ENSG00000179364ENST00000546915F8W0B1
ENSG00000179364ENST00000547217F8VW41

Expression (GTEx)

0
50
100
150
200

References

Pubmed IDYearTitleCitations
156925672005PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis.168
156925632005Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.84
184176152008The subcellular distribution of calnexin is mediated by PACS-2.72
182964432008HIV-1 Nef binds PACS-2 to assemble a multikinase cascade that triggers major histocompatibility complex class I (MHC-I) down-regulation: analysis using short interfering RNA and knock-out mice.43
194815292009Akt and 14-3-3 control a PACS-2 homeostatic switch that integrates membrane traffic with TRAIL-induced apoptosis.35
224964202012An interdomain binding site on HIV-1 Nef interacts with PACS-1 and PACS-2 on endosomes to down-regulate MHC-I.31
288671412017Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.21
226451342012Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) protein-induced lysosomal translocation of proapoptotic effectors is mediated by phosphofurin acidic cluster sorting protein-2 (PACS-2).20
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
246332242014Cellular inhibitor of apoptosis (cIAP)-mediated ubiquitination of phosphofurin acidic cluster sorting protein 2 (PACS-2) negatively regulates tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) cytotoxicity.9

Citation

Dessen P

PACS2 (phosphofurin acidic cluster sorting protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-10-01

Online version: http://atlasgeneticsoncology.org/gene/52900/pacs2