Identity
HGNC
LOCATION
6p24.1
LOCUSID
ALIAS
DEE70,EIEE70,RPEL,RPEL1,dJ257A7.2
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: 221692
MIM: 608723
HGNC: 20990
Ensembl: ENSG00000112137
Variants:
dbSNP: 221692
ClinVar: 221692
TCGA: ENSG00000112137
COSMIC: PHACTR1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38272663 | 2024 | Genotype and phenotype correlation of PHACTR1-related neurological disorders. | 0 |
| 38272663 | 2024 | Genotype and phenotype correlation of PHACTR1-related neurological disorders. | 0 |
| 35653516 | 2023 | PHACTR1 modulates vascular compliance but not endothelial function: a translational study. | 3 |
| 35653516 | 2023 | PHACTR1 modulates vascular compliance but not endothelial function: a translational study. | 3 |
| 34109516 | 2022 | A Study of Associations Between rs9349379 (PHACTR1), rs2891168 (CDKN2B-AS), rs11838776 (COL4A2) and rs4880 (SOD2) Polymorphic Variants and Coronary Artery Disease in Iranian Population. | 5 |
| 36091033 | 2022 | PHACTR1, a coronary artery disease risk gene, mediates endothelial dysfunction. | 3 |
| 34109516 | 2022 | A Study of Associations Between rs9349379 (PHACTR1), rs2891168 (CDKN2B-AS), rs11838776 (COL4A2) and rs4880 (SOD2) Polymorphic Variants and Coronary Artery Disease in Iranian Population. | 5 |
| 36091033 | 2022 | PHACTR1, a coronary artery disease risk gene, mediates endothelial dysfunction. | 3 |
| 33460763 | 2021 | Association of PHACTR1 intronic variants with the first myocardial infarction and their effect on PHACTR1 mRNA expression in PBMCs. | 0 |
| 33630758 | 2021 | Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis. | 26 |
| 33660664 | 2021 | The association of polymorphism in PHACTR1 rs9349379 and rs12526453 with coronary artery atherosclerosis or coronary artery calcification. A systematic review. | 0 |
| 33727568 | 2021 | PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice. | 1 |
| 33460763 | 2021 | Association of PHACTR1 intronic variants with the first myocardial infarction and their effect on PHACTR1 mRNA expression in PBMCs. | 0 |
| 33630758 | 2021 | Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis. | 26 |
| 33660664 | 2021 | The association of polymorphism in PHACTR1 rs9349379 and rs12526453 with coronary artery atherosclerosis or coronary artery calcification. A systematic review. | 0 |
Citation
Dessen P
PHACTR1 (phosphatase and actin regulator 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-07-01
Online version: http://atlasgeneticsoncology.org/gene/53441/phactr1-(phosphatase-and-actin-regulator-1)
