PHACTR2 (phosphatase and actin regulator 2)

2014-11-01  

Identity

HGNC
LOCATION
6q24.2
LOCUSID
ALIAS
C6orf56
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
205465942010An application of Random Forests to a genome-wide association dataset: methodological considerations & new findings.71
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
253990102014Association between polymorphisms in CHRNA3 and PHACTR2 gene and environment and NSCLC risk in Chinese population.7
194290052009Phactr2 and Parkinson's disease.5
194290052009Phactr2 and Parkinson's disease.5

Citation

Dessen P

PHACTR2 (phosphatase and actin regulator 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71876/phactr2