PHACTR2 (phosphatase and actin regulator 2)

2014-11-01  

Identity

HGNC
PHACTR2
LOCATION
6q24.2
LOCUSID
9749
ALIAS
C6orf56
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9749
MIM: 608724
HGNC: 20956
Ensembl: ENSG00000112419

Variants:

dbSNP: 9749
ClinVar: 9749
TCGA: ENSG00000112419
COSMIC: PHACTR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112419ENST00000305766O75167
ENSG00000112419ENST00000367582O75167
ENSG00000112419ENST00000367584J3KP75
ENSG00000112419ENST00000397980H9KVA6
ENSG00000112419ENST00000427704O75167
ENSG00000112419ENST00000440869O75167
ENSG00000112419ENST00000451827F6TH74
ENSG00000112419ENST00000542769F5H858

Expression (GTEx)

0
5
10
15
20
25
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

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608

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
350597402022rs9390123 and rs9399451 influence the DNA repair capacity of lung cancer by regulating PEX3 and PHACTR2‑AS1 expression instead of PHACTR2.3
350597402022rs9390123 and rs9399451 influence the DNA repair capacity of lung cancer by regulating PEX3 and PHACTR2‑AS1 expression instead of PHACTR2.3
253990102014Association between polymorphisms in CHRNA3 and PHACTR2 gene and environment and NSCLC risk in Chinese population.7
253990102014Association between polymorphisms in CHRNA3 and PHACTR2 gene and environment and NSCLC risk in Chinese population.7
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205465942010An application of Random Forests to a genome-wide association dataset: methodological considerations & new findings.94
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205465942010An application of Random Forests to a genome-wide association dataset: methodological considerations & new findings.94
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
194290052009Phactr2 and Parkinson's disease.12
194290052009Phactr2 and Parkinson's disease.12
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
194290052009Phactr2 and Parkinson's disease.12
194290052009Phactr2 and Parkinson's disease.12

Citation

Dessen P

PHACTR2 (phosphatase and actin regulator 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71876/gene-fusions-explorer/css/lib/dataTables.bootstrap.min.css