Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GIGYF2 Gene

Aliases for GIGYF2 Gene

  • GRB10 Interacting GYF Protein 2 2 3 5
  • PERQ Amino Acid-Rich With GYF Domain-Containing Protein 2 3 4
  • Parkinson Disease (Autosomal Recessive, Early Onset) 11 2 3
  • Trinucleotide Repeat-Containing Gene 15 Protein 3 4
  • PERQ Amino Acid Rich, With GYF Domain 3 2 3
  • TNRC15 3 4
  • PERQ2 3 4
  • PERQ Amino Acid Rich, With GYF Domain 2 2
  • Trinucleotide Repeat Containing 15 2
  • GRB10-Interacting GYF Protein 2 3
  • GYF Domain Containing 2 2
  • KIAA0642 4
  • PARK11 3
  • PERQ3 3
  • GYF2 3

External Ids for GIGYF2 Gene

Previous HGNC Symbols for GIGYF2 Gene

  • PERQ2
  • PERQ3
  • TNRC15
  • PARK11

Previous GeneCards Identifiers for GIGYF2 Gene

  • GC02P233272
  • GC02P233562
  • GC02P225411

Summaries for GIGYF2 Gene

Entrez Gene Summary for GIGYF2 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]

GeneCards Summary for GIGYF2 Gene

GIGYF2 (GRB10 Interacting GYF Protein 2) is a Protein Coding gene. Diseases associated with GIGYF2 include Parkinson Disease 11, Autosomal Dominant and Leber Congenital Amaurosis 16. An important paralog of this gene is GIGYF1.

UniProtKB/Swiss-Prot for GIGYF2 Gene

  • Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931). In 4EHP-GYF2 the complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (By similarity). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153).

Gene Wiki entry for GIGYF2 Gene

Additional gene information for GIGYF2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIGYF2 Gene

Genomics for GIGYF2 Gene

GeneHancer (GH) Regulatory Elements for GIGYF2 Gene

Promoters and enhancers for GIGYF2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J232696 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 660.7 +1.0 985 3.7 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 GIGYF2 RPL28P2 DIS3L2 USP40 SCARNA6 COPS7B ATG16L1 NGEF SNORC GC02P232728
GH02J232855 Promoter/Enhancer 1.7 EPDnew ENCODE dbSUPER 650.1 +161.3 161306 6.8 FOXA2 MLX ARID4B SIN3A DMAP1 ETS1 YY1 SLC30A9 ATF7 NFKBIZ SNORC GIGYF2 NGEF ATG16L1 SCARNA5 PIR45244
GH02J231785 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 53.9 -910.8 -910826 1.9 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF143 ZNF548 COPS7B PDE6D DIS3L2 RPL28P2 NCL GIGYF2 RPL23AP26 ENSG00000233538 LOC100289360 ENSG00000241409
GH02J231705 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 39.7 -988.2 -988216 7.7 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 GC02M231705 PTMA DIS3L2 RPL23AP26 RPL28P2 COPS7B GIGYF2 ENSG00000233538 ENSG00000251485 LOC100289360
GH02J231780 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 19.4 -915.7 -915675 2.4 PKNOX1 ARID4B SIN3A YBX1 IRF4 YY1 ZNF766 E2F8 ZNF143 FOS COPS7B PDE6D RPL28P2 DIS3L2 GIGYF2 ENSG00000224376 ENSG00000281072
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GIGYF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GIGYF2 gene promoter:
  • Nkx3-1 v4
  • Nkx3-1 v3
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1
  • Pax-3
  • PPAR-alpha
  • RFX1
  • MyoD

Genomic Locations for GIGYF2 Gene

Genomic Locations for GIGYF2 Gene
163,279 bases
Plus strand
163,279 bases
Plus strand

Genomic View for GIGYF2 Gene

Genes around GIGYF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GIGYF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GIGYF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GIGYF2 Gene

Proteins for GIGYF2 Gene

  • Protein details for GIGYF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    GRB10-interacting GYF protein 2
    Protein Accession:
    Secondary Accessions:
    • A6H8W4
    • B9EG55
    • E9PBB0
    • O75137
    • Q7Z2Z8
    • Q7Z3I2
    • Q96HU4
    • Q9NV82

    Protein attributes for GIGYF2 Gene

    1299 amino acids
    Molecular mass:
    150070 Da
    Quaternary structure:
    • Component of the 4EHP-GYF2 complex, at least composed of EIF4E2, GIGYF2 and ZNF598 (PubMed:22751931). Interacts (via the 4EHP-binding motif) with EIF4E2; the interaction is direct (PubMed:22751931). Interacts with ZFP36/TTP (via P-P-P-P-G repeats); the interaction is direct (By similarity). Interacts with GRB10 (By similarity).
    • Sequence=BAA31617.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91873.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GIGYF2 Gene

    Alternative splice isoforms for GIGYF2 Gene


neXtProt entry for GIGYF2 Gene

Post-translational modifications for GIGYF2 Gene

  • Ubiquitination at isoforms=3, 4, 51185, isoforms=3, 4, 51123, Lys1103, isoforms=3, 4, 51015, Lys994, isoforms=3, 4, 5985, Lys973, and Lys667
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GIGYF2 Gene

Domains & Families for GIGYF2 Gene

Gene Families for GIGYF2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GIGYF2 Gene


Suggested Antigen Peptide Sequences for GIGYF2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GIGYF family.
  • Belongs to the GIGYF family.
genes like me logo Genes that share domains with GIGYF2: view

Function for GIGYF2 Gene

Molecular function for GIGYF2 Gene

UniProtKB/Swiss-Prot Function:
Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931). In 4EHP-GYF2 the complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (By similarity). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153).

Phenotypes From GWAS Catalog for GIGYF2 Gene

Gene Ontology (GO) - Molecular Function for GIGYF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005515 protein binding IPI,IEA 20670374
GO:0045296 cadherin binding IDA 25468996
GO:0070064 proline-rich region binding IDA 20696395
genes like me logo Genes that share ontologies with GIGYF2: view
genes like me logo Genes that share phenotypes with GIGYF2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GIGYF2 Gene

Localization for GIGYF2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GIGYF2 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 4
golgi apparatus 4
endosome 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GIGYF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IDA 20670374
GO:0005783 endoplasmic reticulum IDA 20696395
GO:0005794 Golgi apparatus IDA 20696395
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with GIGYF2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GIGYF2 Gene

Pathways & Interactions for GIGYF2 Gene

SuperPathways for GIGYF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GIGYF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007631 feeding behavior IEA --
GO:0008344 adult locomotory behavior IEA --
GO:0009791 post-embryonic development IEA --
GO:0016441 posttranscriptional gene silencing IDA 27157137
GO:0017148 negative regulation of translation IMP 22751931
genes like me logo Genes that share ontologies with GIGYF2: view

No data available for Pathways by source and SIGNOR curated interactions for GIGYF2 Gene

Drugs & Compounds for GIGYF2 Gene

No Compound Related Data Available

Transcripts for GIGYF2 Gene

mRNA/cDNA for GIGYF2 Gene

Unigene Clusters for GIGYF2 Gene

GRB10 interacting GYF protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GIGYF2 Gene

No ASD Table

Relevant External Links for GIGYF2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GIGYF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GIGYF2 Gene

Protein differential expression in normal tissues from HIPED for GIGYF2 Gene

This gene is overexpressed in Bone marrow stromal cell (10.9) and Lung (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GIGYF2 Gene

Protein tissue co-expression partners for GIGYF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GIGYF2 Gene:


SOURCE GeneReport for Unigene cluster for GIGYF2 Gene:


Evidence on tissue expression from TISSUES for GIGYF2 Gene

  • Nervous system(4.9)
  • Kidney(4.3)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GIGYF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
  • mouth
  • olfactory bulb
  • pharynx
  • diaphragm
  • esophagus
  • heart
  • lung
  • stomach
  • urethra
  • urinary bladder
  • foot
  • hand
  • lower limb
  • upper limb
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GIGYF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GIGYF2 Gene

Orthologs for GIGYF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GIGYF2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GIGYF2 34 33
  • 99.56 (n)
(Canis familiaris)
Mammalia GIGYF2 34 33
  • 93.2 (n)
(Bos Taurus)
Mammalia GIGYF2 34 33
  • 91.87 (n)
(Mus musculus)
Mammalia Gigyf2 16 34 33
  • 89.91 (n)
(Rattus norvegicus)
Mammalia Gigyf2 33
  • 89.69 (n)
(Monodelphis domestica)
Mammalia GIGYF2 34
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia GIGYF2 34
  • 82 (a)
(Gallus gallus)
Aves GIGYF2 34 33
  • 80.95 (n)
(Anolis carolinensis)
Reptilia GIGYF2 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gigyf2 33
  • 64.7 (n)
(Danio rerio)
Actinopterygii gigfy2 34 33
  • 65.32 (n)
Dr.10571 33
fruit fly
(Drosophila melanogaster)
Insecta CG11148 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
Species where no ortholog for GIGYF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GIGYF2 Gene

Gene Tree for GIGYF2 (if available)
Gene Tree for GIGYF2 (if available)
Evolutionary constrained regions (ECRs) for GIGYF2: view image

Paralogs for GIGYF2 Gene

Paralogs for GIGYF2 Gene

(1) SIMAP similar genes for GIGYF2 Gene using alignment to 22 proteins:

  • B9EG55_HUMAN
  • C9J0V6_HUMAN
  • C9J1A6_HUMAN
  • C9J7G1_HUMAN
  • C9JC65_HUMAN
  • C9JH18_HUMAN
  • C9JH78_HUMAN
  • C9JW88_HUMAN
  • E9PC50_HUMAN
  • I1E4Y6_HUMAN
genes like me logo Genes that share paralogs with GIGYF2: view

Variants for GIGYF2 Gene

Sequence variations from dbSNP and Humsavar for GIGYF2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1004619317 uncertain-significance, Leber congenital amaurosis 232,766,387(+) C/T genic_downstream_transcript_variant, intron_variant
rs114013774 Parkinson disease 11 (PARK11) [MIM:607688] 232,847,513(+) T/A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs114432797 uncertain-significance, Leber congenital amaurosis 232,767,572(+) G/A genic_downstream_transcript_variant, intron_variant
rs115735611 risk-factor, Parkinson disease 11 232,791,426(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs116074753 risk-factor, Parkinson disease 11, Parkinson disease 11 (PARK11) [MIM:607688] 232,794,835(+) A/C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GIGYF2 Gene

Variant ID Type Subtype PubMed ID
dgv1219e212 CNV loss 25503493
dgv2171n106 CNV deletion 24896259
esv1066741 CNV deletion 17803354
esv2225863 CNV deletion 18987734
esv2600931 CNV deletion 19546169
esv2721632 CNV deletion 23290073
esv3305230 CNV mobile element insertion 20981092
esv3435970 CNV insertion 20981092
esv3561161 CNV deletion 23714750
esv4368 CNV loss 18987735
esv8516 CNV loss 19470904
nsv1009825 CNV gain 25217958
nsv1072079 CNV deletion 25765185
nsv1123439 CNV deletion 24896259
nsv460134 CNV loss 19166990
nsv478088 CNV novel sequence insertion 20440878
nsv584696 CNV loss 21841781
nsv584697 CNV gain 21841781
nsv834570 CNV gain 17160897
nsv954180 CNV deletion 24416366
nsv961937 CNV duplication 23825009

Variation tolerance for GIGYF2 Gene

Residual Variation Intolerance Score: 19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.05; 75.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GIGYF2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIGYF2 Gene

Disorders for GIGYF2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GIGYF2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 11, autosomal dominant
  • parkinson disease 11, autosomal dominant, susceptibility to
leber congenital amaurosis 16
  • lca16
hereditary late-onset parkinson disease
  • autosomal dominant late-onset parkinson disease
vitreoretinal degeneration
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards


  • Parkinson disease 11 (PARK11) [MIM:607688]: 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. {ECO:0000269 PubMed:18358451, ECO:0000269 PubMed:20060621, ECO:0000269 PubMed:20178831, ECO:0000269 PubMed:26134514}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. Its association with Parkinson disease is however unclear. According to a number of studies, variations affecting this gene are not a frequent cause of Parkinson disease, suggesting that GIGYF2 does not play a major role in Parkinson disease etiology (PubMed:19279319, PubMed:19429085, PubMed:19638301, PubMed:19482505, PubMed:20004041, PubMed:19321232, PubMed:20060621). {ECO:0000269 PubMed:19279319, ECO:0000269 PubMed:19321232, ECO:0000269 PubMed:19429085, ECO:0000269 PubMed:19482505, ECO:0000269 PubMed:19638301, ECO:0000269 PubMed:20004041, ECO:0000269 PubMed:20060621}.

Additional Disease Information for GIGYF2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GIGYF2: view

No data available for Genatlas for GIGYF2 Gene

Publications for GIGYF2 Gene

  1. Follow-up study of the GIGYF2 gene in French families with Parkinson's disease. (PMID: 20004041) Lesage S … French Parkinson's Disease Genetics Study Group (FPDGSG) (Neurobiology of aging 2010) 3 4 22 44 58
  2. Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population. (PMID: 20178831) Wang L … Tang BS (Neuroscience letters 2010) 3 4 22 44 58
  3. Variation in GIGYF2 is not associated with Parkinson disease. (PMID: 19279319) Nichols WC … Parkinson Study Group-PROGENI Investigators (Neurology 2009) 2 3 4 44 58
  4. GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients. (PMID: 19429085) Guo Y … Deng H (Neuroscience letters 2009) 3 4 22 44 58
  5. GIGYF2 mutations are not a frequent cause of familial Parkinson's disease. (PMID: 19482505) Di Fonzo A … Bonifati V (Parkinsonism & related disorders 2009) 3 4 22 44 58

Products for GIGYF2 Gene

Sources for GIGYF2 Gene

Loading form....