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Aliases for GIGYF2 Gene

Aliases for GIGYF2 Gene

  • GRB10 Interacting GYF Protein 2 2 3 5
  • 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-Containing Protein 2 3
  • PERQ Amino Acid Rich, With GYF Domain 2 2
  • Trinucleotide Repeat Containing 15 2
  • GRB10-Interacting GYF Protein 2 4
  • 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 and Gigyf2-Related Parkinson Disease. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is GIGYF1.

UniProtKB/Swiss-Prot for GIGYF2 Gene

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

Gene Wiki entry for GIGYF2 Gene

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

Genomics for GIGYF2 Gene

Regulatory Elements for GIGYF2 Gene

Enhancers for GIGYF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F232650 0.2 ENCODE 11.1 -44.7 -44738 3.5 RFX1 ESRRA CEBPB CEBPG DPF2 ZNF48 ZIC2 OSR2 GATA3 CTBP1 LOC105373929 GIGYF2 KCNJ13 ECEL1 SAG EFHD1 RN7SL359P
GH02F232628 1.3 FANTOM5 ENCODE 11 -68.3 -68291 0.6 REST MNT GIGYF2 EFHD1 NEU2 LOC105373929 RN7SL359P
GH02F232632 0.9 FANTOM5 ENCODE 11 -63.4 -63446 3.1 CREB3L1 ZNF48 ZSCAN9 ZNF121 GLIS2 EGR2 ZNF263 SP3 NFYC ZEB2 LOC105373929 GIGYF2 EFHD1 RN7SL359P
GH02F232661 0.2 ENCODE 10.6 -34.8 -34760 1.3 E2F1 DPF2 FOS TCF7L2 LOC105373929 GIGYF2 KCNJ13 ECEL1 RN7SL359P
GH02F232654 0.4 ENCODE 10.6 -41.2 -41210 2.9 ZNF687 MTA2 HLF JUNB BMI1 TBX21 YY1 JUND ATF3 MTA1 EFHD1 LOC105373929 GIGYF2 RPL28P2 LOC100422710 KCNJ13 ECEL1 RN7SL359P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GIGYF2 on UCSC Golden Path with GeneCards custom track

Promoters for GIGYF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000609472 501 2001 HDGF ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF207

Genomic Location for GIGYF2 Gene

Chromosome:
2
Start:
232,697,299 bp from pter
End:
232,860,577 bp from pter
Size:
163,279 bases
Orientation:
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:
    Q6Y7W6-PERQ2_HUMAN
    Recommended name:
    PERQ amino acid-rich with GYF domain-containing protein 2
    Protein Accession:
    Q6Y7W6
    Secondary Accessions:
    • A6H8W4
    • B9EG55
    • E9PBB0
    • O75137
    • Q7Z2Z8
    • Q7Z3I2
    • Q96HU4
    • Q9NV82

    Protein attributes for GIGYF2 Gene

    Size:
    1299 amino acids
    Molecular mass:
    150070 Da
    Quaternary structure:
    • Interacts with GRB10.
    SequenceCaution:
    • Sequence=BAA31617.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91873.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform.; Evidence={ECO:0000305};

    Alternative splice isoforms for GIGYF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GIGYF2 Gene

Post-translational modifications for GIGYF2 Gene

  • Ubiquitination at Lys 667, Lys 973, Lys 985, Lys 994, Lys 1015, Lys 1103, Lys 1123, and Lys 1185
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GIGYF2 Gene

Domains & Families for GIGYF2 Gene

Gene Families for GIGYF2 Gene

Protein Domains for GIGYF2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GIGYF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6Y7W6

UniProtKB/Swiss-Prot:

PERQ2_HUMAN :
  • Contains 1 GYF domain.
  • Belongs to the PERQ family.
Domain:
  • Contains 1 GYF domain.
Family:
  • Belongs to the PERQ 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:
May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors.

Gene Ontology (GO) - Molecular Function for GIGYF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20670374
GO:0044822 poly(A) RNA binding IDA 22681889
GO:0070064 proline-rich region binding IDA 20696395
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with GIGYF2: view
genes like me logo Genes that share phenotypes with GIGYF2: view

Human Phenotype Ontology for GIGYF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for GIGYF2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GIGYF2 Gene COMPARTMENTS Subcellular localization image for GIGYF2 gene
Compartment Confidence
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for GIGYF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 20670374
GO:0005783 endoplasmic reticulum IDA 20696395
GO:0005794 Golgi apparatus IDA 20696395
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0010494 cytoplasmic stress granule IDA 20696395
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

Transcripts for GIGYF2 Gene

Unigene Clusters for GIGYF2 Gene

GRB10 interacting GYF protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GIGYF2 Gene

GeneLoc Exon Structure for
GIGYF2
ECgene alternative splicing isoforms for
GIGYF2

Expression for GIGYF2 Gene

mRNA expression in normal human tissues 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, PaxDb, 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:

GIGYF2

SOURCE GeneReport for Unigene cluster for GIGYF2 Gene:

Hs.565319
genes like me logo Genes that share expression patterns with GIGYF2: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia GIGYF2 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia GIGYF2 34 35
  • 93.2 (n)
cow
(Bos Taurus)
Mammalia GIGYF2 34 35
  • 91.87 (n)
mouse
(Mus musculus)
Mammalia Gigyf2 34 16 35
  • 89.91 (n)
rat
(Rattus norvegicus)
Mammalia Gigyf2 34
  • 89.69 (n)
oppossum
(Monodelphis domestica)
Mammalia GIGYF2 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GIGYF2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves GIGYF2 34 35
  • 80.95 (n)
lizard
(Anolis carolinensis)
Reptilia GIGYF2 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gigyf2 34
  • 64.7 (n)
zebrafish
(Danio rerio)
Actinopterygii gigfy2 34 35
  • 65.32 (n)
Dr.10571 34
fruit fly
(Drosophila melanogaster)
Insecta CG11148 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GIGYF2 (if available)
TreeFam:
Gene Tree for GIGYF2 (if available)

Paralogs for GIGYF2 Gene

Variants for GIGYF2 Gene

Sequence variations from dbSNP and Humsavar for GIGYF2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs116074753 Parkinson disease 11 (PARK11) [MIM:607688], other 232,794,835(+) TCCCA(A/C/G)TCCTA nc-transcript-variant, reference, missense
rs118203903 Parkinson disease 11 (PARK11) [MIM:607688], other 232,809,731(+) CTGGA(C/G)CAGGA nc-transcript-variant, reference, missense
rs118203904 Parkinson disease 11 (PARK11) [MIM:607688], other 232,790,817(+) GGAGC(A/G)TAGAT nc-transcript-variant, reference, missense
rs769022021 Parkinson disease 11 (PARK11) [MIM:607688] 232,850,301(+) ATTCA(A/G)TATTT nc-transcript-variant, reference, missense
rs776898936 Parkinson disease 11 (PARK11) [MIM:607688] 232,791,080(+) AGTGC(A/T)CTGAC nc-transcript-variant, reference, missense

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)

Relevant External Links for GIGYF2 Gene

Human Gene Mutation Database (HGMD)
GIGYF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GIGYF2

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

Disorders for GIGYF2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GIGYF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 11
  • parkinson disease 11, autosomal dominant, susceptibility to
gigyf2-related parkinson disease
  • parkinson disease 11
hereditary late-onset parkinson disease
  • autosomal dominant late-onset parkinson disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PERQ2_HUMAN
  • 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}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for GIGYF2

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

No data available for Genatlas for GIGYF2 Gene

Publications for GIGYF2 Gene

  1. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. (PMID: 18358451) Lautier C. … Smith R.J. (Am. J. Hum. Genet. 2008) 2 3 4 22 64
  2. Follow-up study of the GIGYF2 gene in French families with Parkinson's disease. (PMID: 20004041) Lesage S. … Brice A. (Neurobiol. Aging 2010) 3 22 46 64
  3. Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population. (PMID: 20178831) Wang L. … Tang B.S. (Neurosci. Lett. 2010) 3 22 46 64
  4. Variation in GIGYF2 is not associated with Parkinson disease. (PMID: 19279319) Nichols W.C. … Foroud T. (Neurology 2009) 2 3 46 64
  5. Haplotype analysis of the PARK 11 gene, GIGYF2, in sporadic Parkinson's disease. (PMID: 19117363) Sutherland G.T. … Mellick G.D. (Mov. Disord. 2009) 3 22 46 64

Products for GIGYF2 Gene

Sources for GIGYF2 Gene

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