Identity
HGNC
LOCATION
14q32.33
LOCUSID
ALIAS
DEE66,EIEE66,PACS-2,PACS1L
FUSION GENES
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: 23241
MIM: 610423
HGNC: 23794
Ensembl: ENSG00000179364
Variants:
dbSNP: 23241
ClinVar: 23241
TCGA: ENSG00000179364
COSMIC: PACS2
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38169625 | 2024 | MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism. | 0 |
| 38540691 | 2024 | Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature. | 0 |
| 38169625 | 2024 | MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism. | 0 |
| 38540691 | 2024 | Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature. | 0 |
| 35951762 | 2022 | Knockdown 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 |
| 35951762 | 2022 | Knockdown 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 |
| 33243487 | 2021 | Clinical variations of epileptic syndrome associated with PACS2 variant. | 3 |
| 33369122 | 2021 | Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. | 7 |
| 34405643 | 2021 | [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review]. | 3 |
| 33243487 | 2021 | Clinical variations of epileptic syndrome associated with PACS2 variant. | 3 |
| 33369122 | 2021 | Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. | 7 |
| 34405643 | 2021 | [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review]. | 3 |
| 30684285 | 2019 | Expanding the clinical spectrum associated with PACS2 mutations. | 6 |
| 31242668 | 2019 | The Multifunctional Sorting Protein PACS-2 Controls Mitophagosome Formation in Human Vascular Smooth Muscle Cells through Mitochondria-ER Contact Sites. | 34 |
| 30684285 | 2019 | Expanding 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/pacs2-(phosphofurin-acidic-cluster-sorting-protein-2)
