GIGYF2 (GRB10 interacting GYF protein 2) — Gene

What This Gene Does

This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Associated Conditions (4)

GIGYF2-related disorder

Parkinson disease 11

autosomal dominant

susceptibility to

Key Variants

RS200754933

Conflicting classifications of pathogenicity

Health Risk

RS748538823

Conflicting classifications of pathogenicity

Parkinson disease 11, autosomal dominant, susceptibility to

Health Risk

RS115735611

risk factor

Parkinson disease 11, autosomal dominant, susceptibility to

Health Risk

RS118203903

risk factor

Parkinson disease 11, autosomal dominant, susceptibility to

Health Risk

RS118203904

risk factor

Parkinson disease 11, autosomal dominant, susceptibility to

Health Risk

All Variants (5)

RSID	Category	Clinical Significance	Conditions
RS200754933	Health Risk	Conflicting classifications of pathogenicity	GIGYF2-related disorder, GIGYF2-related disorder
RS748538823	Health Risk	Conflicting classifications of pathogenicity	Parkinson disease 11, autosomal dominant, susceptibility to
RS115735611	Health Risk	risk factor	Parkinson disease 11, autosomal dominant, susceptibility to
RS118203903	Health Risk	risk factor	Parkinson disease 11, autosomal dominant, susceptibility to
RS118203904	Health Risk	risk factor	Parkinson disease 11, autosomal dominant, susceptibility to

GIGYF2 Chromosome 2