Homo sapiens Gene: GIGYF2 | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Gene | IDBG-83337.6 | ||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||
Gene Symbol | GIGYF2 | ||||||||||||||||||||||||||
Gene Name | GRB10 interacting GYF protein 2 | ||||||||||||||||||||||||||
Synonyms | GYF2; PARK11; PERQ2; PERQ3; TNRC15 | ||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||
Ensembl Gene | ENSG00000204120 | ||||||||||||||||||||||||||
Encoded Proteins |
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
GRB10 interacting GYF protein 2
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Protein Structure |
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Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||
Summary |
The protein encoded by this gene interacts with GRB10 and may be involved in the regulation of tyrosine kinase receptor signaling. This gene contains CAG repeats, and the encoded protein contains stretches glutamine and glutamic acid residues. Defects in this gene are a cause of Parkinson disease type 11 (PARK11). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 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] |
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Gene Information | |||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||
Genomic Location | Chromosome 2:232697299-232858627 | ||||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||||
Band | q37.1 | ||||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 55 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||||||||||||||
SwissProt | Q6Y7W6 | ||||||||||||||||||||||||||
TrEMBL | A0A024R4A5 B8ZZD2 C9IYH5 C9J0V6 C9J1A6 C9J7G1 C9JH18 C9JH78 C9JHT0 C9JHW1 C9JPV7 C9JRZ2 C9JW88 C9JXQ0 C9JZC0 E7ESB6 F8WBF1 F8WCD5 I1E4Y6 | ||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | 26058 | ||||||||||||||||||||||||||
UniGene | Hs.435841 Hs.626328 | ||||||||||||||||||||||||||
RefSeq | NM_001103146 NM_001103147 NM_001103148 NM_015575 | ||||||||||||||||||||||||||
HUGO | HGNC:11960 | ||||||||||||||||||||||||||
OMIM | 612003 | ||||||||||||||||||||||||||
CCDS | CCDS33401 CCDS46542 CCDS46543 | ||||||||||||||||||||||||||
HPRD | |||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | AB014542 AC016692 AC064852 AK001739 AY176045 BC008072 BC136251 BC146775 BX537885 BX538172 BX538321 CH471063 | ||||||||||||||||||||||||||
GenPept | AAH08072 AAI36252 AAI46776 AAO46889 BAA31617 BAA91873 CAD97881 CAD98095 EAW71016 EAW71018 | ||||||||||||||||||||||||||
RNA Seq Atlas | 26058 | ||||||||||||||||||||||||||