rs73223431

This is a regulatory region variant variant in the PTK2B gene.

GWAS Catalog Trait Associations (3)

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

Alzheimer disease

Allele T
OR 1.07
p 4.0e-22
N 487,511
Large GWAS
European
Lake J et al. Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease. Molecular Psychiatry 28(7):3121-3132 (2023)
Allele T
OR
p 3.0e-15
N 644,188
Meta-analysisLarge GWAS
multi-ancestry
Dalmasso MC et al. The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association 20(2):1298-1308 (2024)
Allele T
OR 1.07
p 2.0e-14
N 488,904
Large GWAS
multi-ancestry

leukocyte quantity

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 2.0e-11
N 408,112
Large GWAS
European

vasculitis

Allele T
OR 0.73
p 2.0e-8
N 38,262
Large GWAS
multi-ancestry

About PTK2B

This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all PTK2B 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…