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Gene Gene information from NCBI Gene database.
Entrez ID 10818
Gene name Fibroblast growth factor receptor substrate 2
Gene symbol FRS2
Synonyms (NCBI Gene)
FRS1AFRS2AFRS2alphaSNTSNT-1SNT1
Chromosome 12
Chromosome location 12q15
miRNA miRNA information provided by mirtarbase database.
1075 Show/Hide all (1075)
miRTarBase ID miRNA Experiments Reference
MIRT016233 hsa-miR-548b-3p Sequencing 20371350
MIRT021159 hsa-miR-186-5p Sequencing 20371350
MIRT025864 hsa-miR-7-5p Sequencing 20371350
MIRT027362 hsa-miR-101-3p Sequencing 20371350
MIRT027936 hsa-miR-96-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43 Show/Hide all (43)
GO ID Ontology Definition Evidence Reference
GO:0001702 Process Gastrulation with mouth forming second IEA
GO:0001759 Process Organ induction IEA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0003281 Process Ventricular septum development IEA
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607743 16971 ENSG00000166225
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WU20
Protein name Fibroblast growth factor receptor substrate 2 (FGFR substrate 2) (FGFR-signaling adaptor SNT) (Suc1-associated neurotrophic factor target 1) (SNT-1)
Protein function Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase,
PDB 1XR0 , 2MFQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02174 IRS 17 → 109 PTB domain (IRS-1 type) Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, brain, spleen, lung, liver, skeletal muscle, kidney and testis. {ECO:0000269|PubMed:10092678}.
Sequence
MGSCCSCPDKDTVPDNHRNKFKVINVDDDGNELGSGIMELTDTELILYTRKRDSVKWHYL
CLRRYGYDSNLFSFESGRRCQTGQGIFAFKCARAEELFNMLQEIMQNNS
INVVEEPVVER
NNHQTELEVPRTPRTPTTPGFAAQNLPNGYPRYPSFGDASSHPSSRHPSVGSARLPSVGE
ESTHPLLVAEEQVHTYVNTTGVQEERKNRTSVHVPLEARVSNAESSTPKEEPSSIEDRDP
QILLEPEGVKFVLGPTPVQKQLMEKEKLEQLGRDQVSGSGANNTEWDTGYDSDERRDAPS
VNKLVYENINGLSIPSASGVRRGRLTSTSTSDTQNINNSAQRRTALLNYENLPSLPPVWE
ARKLSRDEDDNLGPKTPSLNGYHNNLDPMHNYVNTENVTVPASAHKIEYSRRRDCTPTVF
NFDIRRPSLEHRQLNYIQVDLEGGSDSDNPQTPKTPTTPLPQTPTRRTELYAVIDIERTA
AMSNLQKALPRDDGTSRKTRHNSTDLPM
Sequence length 508
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Thermogenesis PI3K Cascade
Neurotrophin signaling pathway PIP3 activates AKT signaling
Proteoglycans in cancer Frs2-mediated activation
  Constitutive Signaling by Aberrant PI3K in Cancer
  PI-3K cascade:FGFR1
  FRS-mediated FGFR1 signaling
  PI-3K cascade:FGFR2
  FRS-mediated FGFR2 signaling
  FRS-mediated FGFR3 signaling
  PI-3K cascade:FGFR3
  FRS-mediated FGFR4 signaling
  PI-3K cascade:FGFR4
  Negative regulation of FGFR1 signaling
  Negative regulation of FGFR2 signaling
  Negative regulation of FGFR3 signaling
  Negative regulation of FGFR4 signaling
  Signaling by FGFR2 in disease
  Signaling by FGFR4 in disease
  Signaling by FGFR1 in disease
  RAF/MAP kinase cascade
  PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
  Signaling by FGFR3 fusions in cancer
  Signaling by FGFR3 point mutants in cancer
  RET signaling
  Activated NTRK2 signals through FRS2 and FRS3
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
ATRIAL FIBRILLATION — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE — GWAS catalog 37069358
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog 38374256
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (60)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 34410225 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 26517696
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 39342401 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 26517696
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 32141564 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30755618
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16682955
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27533459 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37458641 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 30755618
★★★★★
★☆☆☆☆
Found in Text Mining only