Gene: PHACTR3

Alternate names for this Gene: C20orf101|H17739|PPP1R123|SCAPIN1|SCAPININ

Gene Summary: This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.32-q13.33

Description of this Gene: phosphatase and actin regulator 3

Type of Gene: protein-coding

rs117431198 in PHACTR3 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs1182531 in PHACTR3 gene and Rheumatoid Arthritis PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 30891314 2019 Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset.

PMID 22491018 2013 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.

rs7273691 in PHACTR3 gene and Schizophrenia PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

rs1182532 in PHACTR3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.