rs10988217

This is a regulatory region variant variant in the PTPA gene.

▶

GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

succinylcarnitine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR —
β 0.016
p 1.0e-18
N 6,948
Large GWAS
European

grip strength measurement

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.01
p 3.0e-10
N 404,112
Large GWAS
European

hemoglobin measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 3.0e-9
N 502,921
Large GWAS
multi-ancestry

hypersomnia

Miyagawa T et al. “A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.” Journal of Human Genetics 63(12):1259-1267 (2018)
Allele G
OR 2.63
p 8.0e-9
N 1,701
Large GWAS
East Asian
▶

Research that mentions this SNP (1)

▶
Tau phosphorylation pathway genes and cerebrospinal fluid tau levels in Alzheimer's disease
AssociationN=270Lynn M. Bekris et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This candidate gene association study examined 18 SNPs in tau phosphorylation pathway genes (kinases and phosphatases) in relation to cerebrospinal fluid (CSF) tau levels in 101 Alzheimer's disease (AD) patients and 169 cognitively normal controls. Two SNPs significantly correlated with CSF tau levels after multiple comparison correction: rs7768046 in the FYN kinase gene (associated with increased CSF t-tau in AD, P=0.0007 Holm-corrected) and rs913275 in the PPP2R4 phosphatase gene (associated with increased CSF p-tau and t-tau in AD, P=0.0024 Holm-corrected). These findings suggest that genetic variation in genes regulating tau phosphorylation influences CSF tau levels in an AD-associated manner.

Traits studied:Alzheimer's diseaseCerebrospinal fluid phosphorylated tau levelsCerebrospinal fluid total tau levels
PubMedDOIMetascience Observatory

About PTPA

Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

View all PTPA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…