GIGYF2 gene

GRB10 interacting GYF protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors.

From NCBI Gene:

  • Parkinson disease 11

From UniProt:

Parkinson disease 11 (PARK11): A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. [MIM:607688]

Cytogenetic Location: 2q37.1, which is the long (q) arm of chromosome 2 at position 37.1

Molecular Location: base pairs 232,697,305 to 232,860,577 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q37.1, which is the long (q) arm of chromosome 2 at position 37.1
  • GYF2
  • PARK11
  • PERQ2
  • PERQ3
  • TNRC15