GeneID: 488
Names
Common Name: | PHACTR2 | Type: | Gene |
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Chromosome: | 6 (NC_000006.12) | Locus: | NM_001100164.2 (PHACTR2) |
HUGO Symbol: | PHACTR2 | Full Name: | phosphatase and actin regulator 2 |
Exons: | 13 | Introns: | 12 |
Description:
PHACTR2 is a member of a family of four protein phosphatase 1 (PP1) and actin regulatory proteins, which are involved in a wide variety of physiological processes, including gene expression, muscle contraction, and glycogen metabolism. In the nervous system, this family of enzymes may regulate synaptic plasticity by controlling activity of a broad range of ion channels and signal transduction enzymes. Sequence variation in this gene associated with stroke outcomes in patients with sickle cell disease.
Synonyms: C6orf56
Comments:
N/A
Number of entries/variants: 1
IthaScore
Publications / Origin
- Allen PB, Greenfield AT, Svenningsson P, Haspeslagh DC, Greengard P, Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins., Proc Natl Acad Sci U S A, 101(18), 7187-92, 2004
- Brewin JN, Rooks H, Gardner K, Senior H, Morje M, Patel H, Calvet D, Bartolucci P, Thein SL, Menzel S, Rees DC, Genome wide association study of silent cerebral infarction in sickle cell disease (HbSS and HbSC)., Haematologica, 106(6), 1770-1773, 2021
A/A | Date | Curator(s) | Comments |
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1 | 2022-03-28 13:03:00 | The IthaGenes Curation Team | Created |