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GIGYF2 (GRB10 interacting GYF protein 2)

Identity

Alias_namesPERQ2
PERQ3
TNRC15
PARK11
PERQ amino acid rich, with GYF domain 2
PERQ amino acid rich, with GYF domain 3
trinucleotide repeat containing 15
Parkinson disease (autosomal recessive, early onset) 11
Alias_symbol (synonym)KIAA0642
GYF2
Other alias
HGNC (Hugo) GIGYF2
LocusID (NCBI) 26058
Atlas_Id 54331
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 232697305 and ends at 232860577 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AHCTF1 (1q44) / GIGYF2 (2q37.1)APC2 (19p13.3) / GIGYF2 (2q37.1)ATRN (20p13) / GIGYF2 (2q37.1)
CRTC3 (15q26.1) / GIGYF2 (2q37.1)GABARAPL1 (12p13.2) / GIGYF2 (2q37.1)GIGYF2 (2q37.1) / ASB18 (2q37.2)
GIGYF2 (2q37.1) / BMPER (7p14.3)GIGYF2 (2q37.1) / CHRND (2q37.1)GIGYF2 (2q37.1) / DIS3L2 (2q37.1)
GIGYF2 (2q37.1) / ECEL1 (2q37.1)GIGYF2 (2q37.1) / EFHD1 (2q37.1)GIGYF2 (2q37.1) / EIF4E2 (2q37.1)
GIGYF2 (2q37.1) / GAB3 (Xq28)GIGYF2 (2q37.1) / GIGYF2 (2q37.1)GIGYF2 (2q37.1) / MROH2A (2q37.1)
GIGYF2 (2q37.1) / PPP1R7 (2q37.3)GIGYF2 (2q37.1) / SLC6A20 (3p21.31)GIGYF2 (2q37.1) / TMEM163 (2q21.3)
GIGYF2 (2q37.1) / TRPM8 (2q37.1)GIGYF2 (2q37.1) / XRCC5 (2q35)PRR4 (12p13.2) / GIGYF2 (2q37.1)
APC2 19p13.3 / GIGYF2 2q37.1GIGYF2 2q37.1 / CHRND 2q37.1GIGYF2 2q37.1 / DIS3L2 2q37.1
GIGYF2 2q37.1 / EFHD1 2q37.1GIGYF2 2q37.1 / EIF4E2 2q37.1GIGYF2 2q37.1 HEATR7B1
GIGYF2 2q37.1 / TMEM163 2q21.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GIGYF2   11960
Cards
Entrez_Gene (NCBI)GIGYF2  26058  GRB10 interacting GYF protein 2
AliasesGYF2; PARK11; PERQ2; PERQ3; 
TNRC15
GeneCards (Weizmann)GIGYF2
Ensembl hg19 (Hinxton)ENSG00000204120 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204120 [Gene_View]  chr2:232697305-232860577 [Contig_View]  GIGYF2 [Vega]
ICGC DataPortalENSG00000204120
TCGA cBioPortalGIGYF2
AceView (NCBI)GIGYF2
Genatlas (Paris)GIGYF2
WikiGenes26058
SOURCE (Princeton)GIGYF2
Genetics Home Reference (NIH)GIGYF2
Genomic and cartography
GoldenPath hg38 (UCSC)GIGYF2  -     chr2:232697305-232860577 +  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GIGYF2  -     2q37.1   [Description]    (hg19-Feb_2009)
EnsemblGIGYF2 - 2q37.1 [CytoView hg19]  GIGYF2 - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBIGIGYF2 [Mapview hg19]  GIGYF2 [Mapview hg38]
OMIM607688   612003   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001103146 NM_001103147 NM_001103148 NM_015575
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GIGYF2
Cluster EST : UnigeneHs.565319 [ NCBI ]
CGAP (NCI)Hs.565319
Alternative Splicing GalleryENSG00000204120
Gene ExpressionGIGYF2 [ NCBI-GEO ]   GIGYF2 [ EBI - ARRAY_EXPRESS ]   GIGYF2 [ SEEK ]   GIGYF2 [ MEM ]
Gene Expression Viewer (FireBrowse)GIGYF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26058
GTEX Portal (Tissue expression)GIGYF2
Human Protein AtlasENSG00000204120-GIGYF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6Y7W6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6Y7W6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6Y7W6
Splice isoforms : SwissVarQ6Y7W6
PhosPhoSitePlusQ6Y7W6
Domaine pattern : Prosite (Expaxy)GYF (PS50829)   
Domains : Interpro (EBI)GYF   
Domain families : Pfam (Sanger)GYF (PF02213)   
Domain families : Pfam (NCBI)pfam02213   
Domain families : Smart (EMBL)GYF (SM00444)  
Conserved Domain (NCBI)GIGYF2
DMDM Disease mutations26058
Blocks (Seattle)GIGYF2
SuperfamilyQ6Y7W6
Human Protein Atlas [tissue]ENSG00000204120-GIGYF2 [tissue]
Peptide AtlasQ6Y7W6
HPRD11639
IPI###############################################################################################################################################################################################################################################################   
Protein Interaction databases
DIP (DOE-UCLA)Q6Y7W6
IntAct (EBI)Q6Y7W6
FunCoupENSG00000204120
BioGRIDGIGYF2
STRING (EMBL)GIGYF2
ZODIACGIGYF2
Ontologies - Pathways
QuickGOQ6Y7W6
Ontology : AmiGORNA binding  protein binding  endosome  endoplasmic reticulum  Golgi apparatus  cytosol  feeding behavior  adult locomotory behavior  post-embryonic development  cytoplasmic stress granule  membrane  integral component of membrane  posttranscriptional gene silencing  negative regulation of translation  spinal cord motor neuron differentiation  mitotic G1 DNA damage checkpoint  multicellular organism growth  perikaryon  cellular protein metabolic process  cadherin binding  insulin-like growth factor receptor signaling pathway  homeostasis of number of cells within a tissue  musculoskeletal movement  neuromuscular process controlling balance  mRNA destabilization  proline-rich region binding  proximal dendrite  
Ontology : EGO-EBIRNA binding  protein binding  endosome  endoplasmic reticulum  Golgi apparatus  cytosol  feeding behavior  adult locomotory behavior  post-embryonic development  cytoplasmic stress granule  membrane  integral component of membrane  posttranscriptional gene silencing  negative regulation of translation  spinal cord motor neuron differentiation  mitotic G1 DNA damage checkpoint  multicellular organism growth  perikaryon  cellular protein metabolic process  cadherin binding  insulin-like growth factor receptor signaling pathway  homeostasis of number of cells within a tissue  musculoskeletal movement  neuromuscular process controlling balance  mRNA destabilization  proline-rich region binding  proximal dendrite  
NDEx NetworkGIGYF2
Atlas of Cancer Signalling NetworkGIGYF2
Wikipedia pathwaysGIGYF2
Orthology - Evolution
OrthoDB26058
GeneTree (enSembl)ENSG00000204120
Phylogenetic Trees/Animal Genes : TreeFamGIGYF2
HOVERGENQ6Y7W6
HOGENOMQ6Y7W6
Homologs : HomoloGeneGIGYF2
Homology/Alignments : Family Browser (UCSC)GIGYF2
Gene fusions - Rearrangements
Fusion : MitelmanAPC2/GIGYF2 [19p13.3/2q37.1]  [t(2;19)(q37;p13)]  
Fusion : MitelmanGIGYF2/ASB18 [2q37.1/2q37.2]  [t(2;2)(q37;q37)]  
Fusion : MitelmanGIGYF2/CHRND [2q37.1/2q37.1]  [t(2;2)(q37;q37)]  
Fusion : MitelmanGIGYF2/DIS3L2 [2q37.1/2q37.1]  [t(2;2)(q37;q37)]  
Fusion : MitelmanGIGYF2/ECEL1 [2q37.1/2q37.1]  [t(2;2)(q37;q37)]  
Fusion : MitelmanGIGYF2/EFHD1 [2q37.1/2q37.1]  [t(2;2)(q37;q37)]  
Fusion : MitelmanGIGYF2/EIF4E2 [2q37.1/2q37.1]  [t(2;2)(q37;q37)]  
Fusion : MitelmanGIGYF2/MROH2A [2q37.1/2q37.1]  [t(2;2)(q37;q37)]  
Fusion : MitelmanGIGYF2/PPP1R7 [2q37.1/2q37.3]  [t(2;2)(q37;q37)]  
Fusion : MitelmanGIGYF2/TMEM163 [2q37.1/2q21.3]  [t(2;2)(q21;q37)]  
Fusion : MitelmanGIGYF2/TRPM8 [2q37.1/2q37.1]  [t(2;2)(q37;q37)]  
Fusion: TCGA_MDACCAPC2 19p13.3 GIGYF2 2q37.1 LGG
Fusion: TCGA_MDACCGIGYF2 2q37.1 CHRND 2q37.1 BRCA
Fusion: TCGA_MDACCGIGYF2 2q37.1 DIS3L2 2q37.1 BRCA
Fusion: TCGA_MDACCGIGYF2 2q37.1 EFHD1 2q37.1 BRCA
Fusion: TCGA_MDACCGIGYF2 2q37.1 EIF4E2 2q37.1 BRCA
Fusion: TCGA_MDACCGIGYF2 2q37.1 HEATR7B1 BLCA
Fusion: TCGA_MDACCGIGYF2 2q37.1 TMEM163 2q21.3 PRAD
Tumor Fusion PortalGIGYF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGIGYF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GIGYF2
dbVarGIGYF2
ClinVarGIGYF2
1000_GenomesGIGYF2 
Exome Variant ServerGIGYF2
ExAC (Exome Aggregation Consortium)ENSG00000204120
GNOMAD BrowserENSG00000204120
Genetic variants : HAPMAP26058
Genomic Variants (DGV)GIGYF2 [DGVbeta]
DECIPHERGIGYF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGIGYF2 
Mutations
ICGC Data PortalGIGYF2 
TCGA Data PortalGIGYF2 
Broad Tumor PortalGIGYF2
OASIS PortalGIGYF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGIGYF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGIGYF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GIGYF2
DgiDB (Drug Gene Interaction Database)GIGYF2
DoCM (Curated mutations)GIGYF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GIGYF2 (select a term)
intoGenGIGYF2
Cancer3DGIGYF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607688    612003   
Orphanet23022   
DisGeNETGIGYF2
MedgenGIGYF2
Genetic Testing Registry GIGYF2
NextProtQ6Y7W6 [Medical]
TSGene26058
GENETestsGIGYF2
Target ValidationGIGYF2
Huge Navigator GIGYF2 [HugePedia]
snp3D : Map Gene to Disease26058
BioCentury BCIQGIGYF2
ClinGenGIGYF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26058
Chemical/Pharm GKB GenePA36647
Clinical trialGIGYF2
Miscellaneous
canSAR (ICR)GIGYF2 (select the gene name)
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGIGYF2
EVEXGIGYF2
GoPubMedGIGYF2
iHOPGIGYF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:14:34 CET 2017

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