PACS2 (phosphofurin acidic cluster sorting protein 2)

2012-10-01  

Identity

HGNC
PACS2
LOCATION
14q32.33
LOCUSID
23241
ALIAS
DEE66,EIEE66,PACS-2,PACS1L
FUSION GENES
Show Gene Fusions

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
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

References

Pubmed IDYearTitleCitations
381696252024MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism.0
385406912024Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.0
381696252024MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism.0
385406912024Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.0
359517622022Knockdown of circ_0002194 protects against oxidized low-density lipoprotein-induced cell damage via the regulation of the miR-637/PACS2 axis in human vascular endothelial cells.3
359517622022Knockdown of circ_0002194 protects against oxidized low-density lipoprotein-induced cell damage via the regulation of the miR-637/PACS2 axis in human vascular endothelial cells.3
332434872021Clinical variations of epileptic syndrome associated with PACS2 variant.3
333691222021Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.7
344056432021[Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].3
332434872021Clinical variations of epileptic syndrome associated with PACS2 variant.3
333691222021Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.7
344056432021[Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].3
306842852019Expanding the clinical spectrum associated with PACS2 mutations.6
312426682019The Multifunctional Sorting Protein PACS-2 Controls Mitophagosome Formation in Human Vascular Smooth Muscle Cells through Mitochondria-ER Contact Sites.34
306842852019Expanding the clinical spectrum associated with PACS2 mutations.6

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