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FRS2 (fibroblast growth factor receptor substrate 2)

Identity

Alias_symbol (synonym)SNT-1
FRS2alpha
SNT1
FRS2A
Other aliasFRS1A
SNT
HGNC (Hugo) FRS2
LocusID (NCBI) 10818
Atlas_Id 50862
Location 12q15  [Link to chromosome band 12q15]
Location_base_pair Starts at 69470349 and ends at 69579791 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)
CELF4 (18q12.2) / FRS2 (12q15)FRS2 (12q15) / ACSS2 (20q11.22)FRS2 (12q15) / COPA (1q23.2)
FRS2 (12q15) / DRAM1 (12q23.2)FRS2 (12q15) / DTX3 (12q13.3)FRS2 (12q15) / GRIP1 (12q14.3)
FRS2 (12q15) / KIF5A (12q13.3)FRS2 (12q15) / LYZ (12q15)FRS2 (12q15) / MDM2 (12q15)
FRS2 (12q15) / MSRB3 (12q14.3)FRS2 (12q15) / NRG3 (10q23.1)FRS2 (12q15) / NUP107 (12q15)
FRS2 (12q15) / OS9 (12q13.3)FRS2 (12q15) / OSBPL8 (12q21.2)FRS2 (12q15) / PIP4K2C (12q13.3)
FRS2 (12q15) / RASSF3 (12q14.2)FRS2 (12q15) / TSPAN8 (12q21.1)RAB21 (12q21.1) / FRS2 (12q15)
RAB3IP (12q15) / FRS2 (12q15)FRS2 12q15 / ACSS2 20q11.22FRS2 12q15 / DRAM1 12q23.2
FRS2 12q15 / DTX3 12q13.3FRS2 12q15 / GRIP1 12q14.3FRS2 12q15 / KIF5A 12q13.3
FRS2 12q15 / LYZ 12q15FRS2 12q15 / MDM2 12q15FRS2 12q15 / MSRB3 12q14.3
FRS2 12q15 / NRG3 10q23.1FRS2 12q15 / NUP107 12q15FRS2 12q15 / OS9 12q13.3
FRS2 12q15 / OSBPL8 12q21.2FRS2 12q15 / PIP4K2C 12q13.3FRS2 12q15 / RASSF3 12q14.2
FRS2 12q15 / TSPAN8 12q21.1RAB3IP 12q15 / FRS2 12q15

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 14 ]
  Lung: Translocations in Adenocarcinoma
t(10;12)(q23;q15) FRS2/NRG3
t(12;12)(q13;q15) FRS2/DTX3
t(12;12)(q13;q15) FRS2/KIF5A
t(12;12)(q13;q15) FRS2/OS9
t(12;12)(q13;q15) FRS2/PIP4K2C
t(12;12)(q14;q15) FRS2/GRIP1
t(12;12)(q14;q15) FRS2/MSRB3
t(12;12)(q14;q15) FRS2/RASSF3
t(12;12)(q15;q21) FRS2/OSBPL8
t(12;12)(q15;q21) FRS2/TSPAN8
t(12;12)(q15;q21) RAB21/FRS2
t(12;12)(q15;q23) FRS2/DRAM1
t(12;20)(q15;q11) FRS2/ACSS2

External links

Nomenclature
HGNC (Hugo)FRS2   16971
Cards
Entrez_Gene (NCBI)FRS2  10818  fibroblast growth factor receptor substrate 2
AliasesFRS1A; FRS2A; FRS2alpha; SNT; 
SNT-1; SNT1
GeneCards (Weizmann)FRS2
Ensembl hg19 (Hinxton)ENSG00000166225 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166225 [Gene_View]  ENSG00000166225 [Sequence]  chr12:69470349-69579791 [Contig_View]  FRS2 [Vega]
ICGC DataPortalENSG00000166225
TCGA cBioPortalFRS2
AceView (NCBI)FRS2
Genatlas (Paris)FRS2
WikiGenes10818
SOURCE (Princeton)FRS2
Genetics Home Reference (NIH)FRS2
Genomic and cartography
GoldenPath hg38 (UCSC)FRS2  -     chr12:69470349-69579791 +  12q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRS2  -     12q15   [Description]    (hg19-Feb_2009)
FRS2 - 12q15 [CytoView hg19]  FRS2 - 12q15 [CytoView hg38]
Mapping of homologs : NCBIFRS2 [Mapview hg19]  FRS2 [Mapview hg38]
OMIM607743   
Gene and transcription
Genbank (Entrez)AF036717 AK226068 AK312477 BC021562 BP217337
RefSeq transcript (Entrez)NM_001042555 NM_001278351 NM_001278353 NM_001278354 NM_001278355 NM_001278356 NM_001278357 NM_006654
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FRS2
Cluster EST : UnigeneHs.593446 [ NCBI ]
CGAP (NCI)Hs.593446
Alternative Splicing GalleryENSG00000166225
Gene ExpressionFRS2 [ NCBI-GEO ]   FRS2 [ EBI - ARRAY_EXPRESS ]   FRS2 [ SEEK ]   FRS2 [ MEM ]
Gene Expression Viewer (FireBrowse)FRS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10818
GTEX Portal (Tissue expression)FRS2
Human Protein AtlasENSG00000166225-FRS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WU20   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WU20  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WU20
Splice isoforms : SwissVarQ8WU20
PhosPhoSitePlusQ8WU20
Domaine pattern : Prosite (Expaxy)IRS_PTB (PS51064)   
Domains : Interpro (EBI)IRS_PTB   
Domain families : Pfam (Sanger)IRS (PF02174)   
Domain families : Pfam (NCBI)pfam02174   
Domain families : Smart (EMBL)PTBI (SM00310)  
Conserved Domain (NCBI)FRS2
DMDM Disease mutations10818
Blocks (Seattle)FRS2
PDB (RSDB)1XR0    2MFQ   
PDB Europe1XR0    2MFQ   
PDB (PDBSum)1XR0    2MFQ   
PDB (IMB)1XR0    2MFQ   
Structural Biology KnowledgeBase1XR0    2MFQ   
SCOP (Structural Classification of Proteins)1XR0    2MFQ   
CATH (Classification of proteins structures)1XR0    2MFQ   
SuperfamilyQ8WU20
Human Protein Atlas [tissue]ENSG00000166225-FRS2 [tissue]
Peptide AtlasQ8WU20
HPRD06372
IPIIPI01023006   IPI01020721   IPI01020872   IPI01021000   IPI01021146   IPI01021247   IPI01021401   IPI01021691   IPI00107698   
Protein Interaction databases
DIP (DOE-UCLA)Q8WU20
IntAct (EBI)Q8WU20
FunCoupENSG00000166225
BioGRIDFRS2
STRING (EMBL)FRS2
ZODIACFRS2
Ontologies - Pathways
QuickGOQ8WU20
Ontology : AmiGOMAPK cascade  activation of MAPKK activity  activation of MAPK activity  gastrulation with mouth forming second  organ induction  ventricular septum development  transmembrane receptor protein tyrosine kinase adaptor activity  Ras guanyl-nucleotide exchange factor activity  fibroblast growth factor receptor binding  neurotrophin TRKA receptor binding  protein binding  cytosol  plasma membrane  integral component of plasma membrane  cell-cell adherens junction  transmembrane receptor protein tyrosine phosphatase signaling pathway  G protein-coupled receptor signaling pathway  neuroblast proliferation  axon guidance  fibroblast growth factor receptor signaling pathway  fibroblast growth factor receptor signaling pathway  anterior/posterior axis specification, embryo  endomembrane system  membrane  1-phosphatidylinositol-3-kinase activity  phosphatase activator activity  forebrain development  phosphatidylinositol-3-phosphate biosynthetic process  regulation of apoptotic process  optic placode formation involved in camera-type eye formation  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  neurotrophin TRK receptor signaling pathway  regulation of epithelial cell proliferation  positive regulation of protein kinase B signaling  prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis  lens fiber cell development  regulation of ERK1 and ERK2 cascade  negative regulation of cardiac muscle cell differentiation  
Ontology : EGO-EBIMAPK cascade  activation of MAPKK activity  activation of MAPK activity  gastrulation with mouth forming second  organ induction  ventricular septum development  transmembrane receptor protein tyrosine kinase adaptor activity  Ras guanyl-nucleotide exchange factor activity  fibroblast growth factor receptor binding  neurotrophin TRKA receptor binding  protein binding  cytosol  plasma membrane  integral component of plasma membrane  cell-cell adherens junction  transmembrane receptor protein tyrosine phosphatase signaling pathway  G protein-coupled receptor signaling pathway  neuroblast proliferation  axon guidance  fibroblast growth factor receptor signaling pathway  fibroblast growth factor receptor signaling pathway  anterior/posterior axis specification, embryo  endomembrane system  membrane  1-phosphatidylinositol-3-kinase activity  phosphatase activator activity  forebrain development  phosphatidylinositol-3-phosphate biosynthetic process  regulation of apoptotic process  optic placode formation involved in camera-type eye formation  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  neurotrophin TRK receptor signaling pathway  regulation of epithelial cell proliferation  positive regulation of protein kinase B signaling  prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis  lens fiber cell development  regulation of ERK1 and ERK2 cascade  negative regulation of cardiac muscle cell differentiation  
Pathways : KEGGNeurotrophin signaling pathway    Proteoglycans in cancer   
NDEx NetworkFRS2
Atlas of Cancer Signalling NetworkFRS2
Wikipedia pathwaysFRS2
Orthology - Evolution
OrthoDB10818
GeneTree (enSembl)ENSG00000166225
Phylogenetic Trees/Animal Genes : TreeFamFRS2
HOGENOMQ8WU20
Homologs : HomoloGeneFRS2
Homology/Alignments : Family Browser (UCSC)FRS2
Gene fusions - Rearrangements
Fusion : MitelmanFRS2/ACSS2 [12q15/20q11.22]  
Fusion : MitelmanFRS2/DRAM1 [12q15/12q23.2]  [t(12;12)(q15;q23)]  
Fusion : MitelmanFRS2/DTX3 [12q15/12q13.3]  [t(12;12)(q13;q15)]  
Fusion : MitelmanFRS2/GRIP1 [12q15/12q14.3]  [t(12;12)(q14;q15)]  
Fusion : MitelmanFRS2/KIF5A [12q15/12q13.3]  [t(12;12)(q13;q15)]  
Fusion : MitelmanFRS2/MSRB3 [12q15/12q14.3]  [t(12;12)(q14;q15)]  
Fusion : MitelmanFRS2/NRG3 [12q15/10q23.1]  [t(10;12)(q23;q15)]  
Fusion : MitelmanFRS2/OSBPL8 [12q15/12q21.2]  [t(12;12)(q15;q21)]  
Fusion : MitelmanFRS2/PIP4K2C [12q15/12q13.3]  [t(12;12)(q13;q15)]  
Fusion : MitelmanFRS2/RASSF3 [12q15/12q14.2]  [t(12;12)(q14;q15)]  
Fusion : MitelmanFRS2/TSPAN8 [12q15/12q21.1]  [t(12;12)(q15;q21)]  
Fusion : MitelmanRAB21/FRS2 [12q21.1/12q15]  [t(12;12)(q15;q21)]  
Fusion PortalFRS2 12q15 ACSS2 20q11.22 LUAD
Fusion PortalFRS2 12q15 DRAM1 12q23.2 BLCA
Fusion PortalFRS2 12q15 DTX3 12q13.3 GBM
Fusion PortalFRS2 12q15 GRIP1 12q14.3 LGG
Fusion PortalFRS2 12q15 KIF5A 12q13.3 GBM
Fusion PortalFRS2 12q15 LYZ 12q15 BRCA LUAD
Fusion PortalFRS2 12q15 MDM2 12q15 LUAD
Fusion PortalFRS2 12q15 MSRB3 12q14.3 GBM
Fusion PortalFRS2 12q15 NRG3 10q23.1 BRCA
Fusion PortalFRS2 12q15 NUP107 12q15 BLCA
Fusion PortalFRS2 12q15 OS9 12q13.3 LUAD
Fusion PortalFRS2 12q15 OSBPL8 12q21.2 BRCA
Fusion PortalFRS2 12q15 PIP4K2C 12q13.3 LUAD
Fusion PortalFRS2 12q15 RASSF3 12q14.2 PRAD
Fusion PortalFRS2 12q15 TSPAN8 12q21.1 BRCA
Fusion PortalRAB3IP 12q15 FRS2 12q15 BRCA
Fusion : QuiverFRS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRS2
dbVarFRS2
ClinVarFRS2
1000_GenomesFRS2 
Exome Variant ServerFRS2
ExAC (Exome Aggregation Consortium)ENSG00000166225
GNOMAD BrowserENSG00000166225
Varsome BrowserFRS2
Genetic variants : HAPMAP10818
Genomic Variants (DGV)FRS2 [DGVbeta]
DECIPHERFRS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFRS2 
Mutations
ICGC Data PortalFRS2 
TCGA Data PortalFRS2 
Broad Tumor PortalFRS2
OASIS PortalFRS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFRS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFRS2
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
BioMutasearch FRS2
DgiDB (Drug Gene Interaction Database)FRS2
DoCM (Curated mutations)FRS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FRS2 (select a term)
intoGenFRS2
Cancer3DFRS2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607743   
Orphanet
DisGeNETFRS2
MedgenFRS2
Genetic Testing Registry FRS2
NextProtQ8WU20 [Medical]
TSGene10818
GENETestsFRS2
Target ValidationFRS2
Huge Navigator FRS2 [HugePedia]
snp3D : Map Gene to Disease10818
BioCentury BCIQFRS2
ClinGenFRS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10818
Chemical/Pharm GKB GenePA134850063
Clinical trialFRS2
Miscellaneous
canSAR (ICR)FRS2 (select the gene name)
DataMed IndexFRS2
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFRS2
EVEXFRS2
GoPubMedFRS2
iHOPFRS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu May 2 12:49:36 CEST 2019
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