PHACTR1 (phosphatase and actin regulator 1)

2013-07-01  

Identity

HGNC
PHACTR1
LOCATION
6p24.1
LOCUSID
221692
ALIAS
DEE70,EIEE70,RPEL,RPEL1,dJ257A7.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 221692
MIM: 608723
HGNC: 20990
Ensembl: ENSG00000112137

Variants:

dbSNP: 221692
ClinVar: 221692
TCGA: ENSG00000112137
COSMIC: PHACTR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112137ENST00000332995Q9C0D0
ENSG00000112137ENST00000379329Q4VY13
ENSG00000112137ENST00000379335Q4VY12
ENSG00000112137ENST00000379348Q5R356
ENSG00000112137ENST00000379350Q9C0D0
ENSG00000112137ENST00000406205H0Y3U1
ENSG00000112137ENST00000434977A0A0U1RQH5
ENSG00000112137ENST00000434977H0Y7G2

Expression (GTEx)

0
5
10
15
20
25
30
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382726632024Genotype and phenotype correlation of PHACTR1-related neurological disorders.0
382726632024Genotype and phenotype correlation of PHACTR1-related neurological disorders.0
356535162023PHACTR1 modulates vascular compliance but not endothelial function: a translational study.3
356535162023PHACTR1 modulates vascular compliance but not endothelial function: a translational study.3
341095162022A Study of Associations Between rs9349379 (PHACTR1), rs2891168 (CDKN2B-AS), rs11838776 (COL4A2) and rs4880 (SOD2) Polymorphic Variants and Coronary Artery Disease in Iranian Population.5
360910332022PHACTR1, a coronary artery disease risk gene, mediates endothelial dysfunction.3
341095162022A Study of Associations Between rs9349379 (PHACTR1), rs2891168 (CDKN2B-AS), rs11838776 (COL4A2) and rs4880 (SOD2) Polymorphic Variants and Coronary Artery Disease in Iranian Population.5
360910332022PHACTR1, a coronary artery disease risk gene, mediates endothelial dysfunction.3
334607632021Association of PHACTR1 intronic variants with the first myocardial infarction and their effect on PHACTR1 mRNA expression in PBMCs.0
336307582021Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis.26
336606642021The association of polymorphism in PHACTR1 rs9349379 and rs12526453 with coronary artery atherosclerosis or coronary artery calcification. A systematic review.0
337275682021PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.1
334607632021Association of PHACTR1 intronic variants with the first myocardial infarction and their effect on PHACTR1 mRNA expression in PBMCs.0
336307582021Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis.26
336606642021The 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)