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Aliases for FRS2 Gene

Aliases for FRS2 Gene

  • Fibroblast Growth Factor Receptor Substrate 2 2 3 3 5
  • Suc1-Associated Neurotrophic Factor Target 1 3 4
  • FGFR-Signaling Adaptor SNT 3 4
  • FGFR Substrate 2 3 4
  • SNT-1 3 4
  • FGFR Signalling Adaptor 3
  • FRS2alpha 3
  • FRS1A 3
  • FRS2A 3
  • SNT1 3
  • SNT 3

External Ids for FRS2 Gene

Previous GeneCards Identifiers for FRS2 Gene

  • GC12P069580
  • GC12P068150
  • GC12P069864
  • GC12P066913

Summaries for FRS2 Gene

GeneCards Summary for FRS2 Gene

FRS2 (Fibroblast Growth Factor Receptor Substrate 2) is a Protein Coding gene. Diseases associated with FRS2 include Retinitis Pigmentosa 32 and Inflammatory Mfh. Among its related pathways are Development FGFR signaling pathway and Downstream signaling of activated FGFR2. Gene Ontology (GO) annotations related to this gene include insulin receptor binding and transmembrane receptor protein tyrosine kinase adaptor activity. An important paralog of this gene is FRS3.

UniProtKB/Swiss-Prot for FRS2 Gene

  • 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, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1 by competing for a common binding site on NTRK1.

Gene Wiki entry for FRS2 Gene

Additional gene information for FRS2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRS2 Gene

Genomics for FRS2 Gene

GeneHancer (GH) Regulatory Elements for FRS2 Gene

Promoters and enhancers for FRS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J069469 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 657.9 +0.5 501 2.1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 FRS2 CCT2 LYZ GC12P069484 GC12P069483
GH12J069468 Enhancer 0.6 Ensembl 655.1 -1.7 -1749 0.4 ZFP64 CBFA2T3 DPF2 ZNF217 FOSL1 JUND CTBP1 GATA3 ZNF184 HMBOX1 FRS2 LINC02373
GH12J069544 Promoter 0.5 EPDnew 650.2 +73.7 73729 0.1 FRS2 MIR3913-2 GC12P069484 GC12P069483
GH12J069584 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.3 +115.3 115297 1.8 HDGF PKNOX1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B CCT2 MIR3913-2 MIR3913-1 CPSF6 NUP107 CNOT2 FRS2 RAP1B LYZ LRRC10
GH12J069023 Enhancer 1.2 FANTOM5 Ensembl ENCODE 20 -445.6 -445581 2 MXI1 JUN MAX BRCA1 RAD21 RFX5 YY1 POLR2A EGR1 SMC3 CPSF6 MDM2 YEATS4 FRS2 NUP107 SLC35E3 GC12M069009 GC12M069139
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRS2 gene promoter:
  • HFH-1
  • Meis-1a
  • Meis-1
  • HOXA9B
  • HOXA9
  • MyoD
  • Egr-4
  • AP-1
  • AML1a
  • Chx10

Genomic Locations for FRS2 Gene

Genomic Locations for FRS2 Gene
chr12:69,470,349-69,579,793
(GRCh38/hg38)
Size:
109,445 bases
Orientation:
Plus strand
chr12:69,864,129-69,973,562
(GRCh37/hg19)
Size:
109,434 bases
Orientation:
Plus strand

Genomic View for FRS2 Gene

Genes around FRS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRS2 Gene

Proteins for FRS2 Gene

  • Protein details for FRS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WU20-FRS2_HUMAN
    Recommended name:
    Fibroblast growth factor receptor substrate 2
    Protein Accession:
    Q8WU20
    Secondary Accessions:
    • B0LPF2
    • B2R684
    • O43558
    • Q7LDQ6

    Protein attributes for FRS2 Gene

    Size:
    508 amino acids
    Molecular mass:
    57029 Da
    Quaternary structure:
    • Part of a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1. Part of a complex containing GRB2 and CBL. Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN. Binds RET (By similarity). Binds ALK, FGFR1, CKS2, MAPK1/ERK2, MAPK3/ERK1 and SRC. The tyrosine-phosphorylated protein binds the SH2 domains of GRB2 and PTPN11. Interacts with NTRK1, NTRK2 and NTRK3 (phosphorylated upon ligand-binding).
    SequenceCaution:
    • Sequence=AAH21562.1; Type=Erroneous termination; Positions=509; Note=Translated as stop.; Evidence={ECO:0000305}; Sequence=BAG35381.1; Type=Erroneous termination; Positions=509; Note=Translated as stop.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FRS2 Gene

neXtProt entry for FRS2 Gene

Post-translational modifications for FRS2 Gene

  • Phosphorylated by ULK2 in vitro (By similarity). Phosphorylated on tyrosine residues upon stimulation by NGF or FGF2. Phosphorylated on tyrosine residues by activated ALK and FGFR1. Phosphorylated on tyrosine residues upon activation of FGFR2 and FGFR3. Phosphorylated on threonine residues by MAP kinases; this inhibits tyrosine phosphorylation, and thereby down-regulates FRS2-mediated activation of MAP kinases.
  • Ubiquitinated when tyrosine phosphorylated and in a complex with GRB2. The unphosphorylated form is not subject to ubiquitination (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FRS2 Gene

Domains & Families for FRS2 Gene

Gene Families for FRS2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FRS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FRS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FRS2: view

No data available for UniProtKB/Swiss-Prot for FRS2 Gene

Function for FRS2 Gene

Molecular function for FRS2 Gene

UniProtKB/Swiss-Prot 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, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1 by competing for a common binding site on NTRK1.

Phenotypes From GWAS Catalog for FRS2 Gene

Gene Ontology (GO) - Molecular Function for FRS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity TAS 9660748
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005104 fibroblast growth factor receptor binding IPI 9660748
GO:0005168 neurotrophin TRKA receptor binding IPI 15488758
GO:0005515 protein binding IPI 9660748
genes like me logo Genes that share ontologies with FRS2: view
genes like me logo Genes that share phenotypes with FRS2: view

Animal Models for FRS2 Gene

MGI Knock Outs for FRS2:
  • Frs2 Frs2<tm1b(EUCOMM)Wtsi>
  • Frs2 Frs2<tm3Scl>
  • Frs2 Frs2<tm1.1Fwan>

Animal Model Products

miRNA for FRS2 Gene

miRTarBase miRNAs that target FRS2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FRS2 Gene

Localization for FRS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRS2 Gene

Endomembrane system. Note=Cytoplasmic, membrane-bound.

Subcellular locations from

COMPARTMENTS
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 FRS2 gene
Compartment Confidence
plasma membrane 5
endosome 4
nucleus 3
endoplasmic reticulum 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FRS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9660748
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with FRS2: view

Pathways & Interactions for FRS2 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 PI3K/AKT activation
4 Negative regulation of FGFR1 signaling
5 Development FGFR signaling pathway
genes like me logo Genes that share pathways with FRS2: view

SIGNOR curated interactions for FRS2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FRS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0000187 activation of MAPK activity IEA --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0001759 organ induction IEA --
genes like me logo Genes that share ontologies with FRS2: view

Drugs & Compounds for FRS2 Gene

(4) Drugs for FRS2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for FRS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FRS2: view

Transcripts for FRS2 Gene

Unigene Clusters for FRS2 Gene

Fibroblast growth factor receptor substrate 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRS2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - -
SP2: - - - -
SP3: -
SP4:

Relevant External Links for FRS2 Gene

GeneLoc Exon Structure for
FRS2
ECgene alternative splicing isoforms for
FRS2

Expression for FRS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FRS2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FRS2 Gene



Protein tissue co-expression partners for FRS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FRS2 Gene:

FRS2

SOURCE GeneReport for Unigene cluster for FRS2 Gene:

Hs.593446

mRNA Expression by UniProt/SwissProt for FRS2 Gene:

Q8WU20-FRS2_HUMAN
Tissue specificity: Highly expressed in heart, brain, spleen, lung, liver, skeletal muscle, kidney and testis.

Evidence on tissue expression from TISSUES for FRS2 Gene

  • Nervous system(4.8)
  • Liver(4.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with FRS2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRS2 Gene

Orthologs for FRS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FRS2 34 33
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FRS2 34 33
  • 96.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FRS2 34 33
  • 94.82 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FRS2 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Frs2 33
  • 90.29 (n)
mouse
(Mus musculus)
Mammalia Frs2 16 34 33
  • 89.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FRS2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRS2 34 33
  • 86.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FRS2 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frs2 33
  • 77.58 (n)
Str.3189 33
African clawed frog
(Xenopus laevis)
Amphibia frs2-prov 33
zebrafish
(Danio rerio)
Actinopterygii frs2a 34 33
  • 65.47 (n)
OneToMany
frs2b 34
  • 59 (a)
OneToMany
Dr.5313 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13274 33
fruit fly
(Drosophila melanogaster)
Insecta CG13398 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rog-1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
OneToMany
Species where no ortholog for FRS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for FRS2 Gene

ENSEMBL:
Gene Tree for FRS2 (if available)
TreeFam:
Gene Tree for FRS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FRS2: view image

Paralogs for FRS2 Gene

Paralogs for FRS2 Gene

(5) SIMAP similar genes for FRS2 Gene using alignment to 9 proteins:

  • FRS2_HUMAN
  • F8VP54_HUMAN
  • F8VS98_HUMAN
  • F8VW66_HUMAN
  • F8VX65_HUMAN
  • F8VYZ7_HUMAN
  • F8VZ12_HUMAN
  • F8VZI4_HUMAN
  • L7RTG7_HUMAN
genes like me logo Genes that share paralogs with FRS2: view

Variants for FRS2 Gene

Sequence variations from dbSNP and Humsavar for FRS2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000003443 -- 69,515,133(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000014146 -- 69,556,011(+) G/C/T genic_upstream_transcript_variant, intron_variant
rs1000029367 -- 69,579,343(+) T/A/C 3_prime_UTR_variant
rs1000037503 -- 69,493,906(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000047638 -- 69,522,319(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FRS2 Gene

Variant ID Type Subtype PubMed ID
dgv1523n100 CNV gain 25217958
esv3629869 CNV loss 21293372
esv991802 CNV gain 20482838
nsv473660 CNV novel sequence insertion 20440878
nsv476340 CNV novel sequence insertion 20440878
nsv478099 CNV novel sequence insertion 20440878
nsv559225 CNV loss 21841781
nsv761 CNV insertion 18451855
nsv973991 CNV duplication 23825009

Variation tolerance for FRS2 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRS2 Gene

Disorders for FRS2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FRS2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 32
  • rp32
inflammatory mfh
  • xanthosarcoma
nasal cavity squamous cell carcinoma
  • squamous cell carcinoma of nasal cavity
- elite association - COSMIC cancer census association via MalaCards
Search FRS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FRS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FRS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FRS2 Gene

Publications for FRS2 Gene

  1. Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic. (PMID: 18591461) Turner ST … Boerwinkle E (Hypertension (Dallas, Tex. : 1979) 2008) 3 22 44 58
  2. EGFR and FGFR signaling through FRS2 is subject to negative feedback control by ERK1/2. (PMID: 12974390) Wu Y … Ullrich A (Biological chemistry 2003) 3 4 22 58
  3. The signaling adapter FRS-2 competes with Shc for binding to the nerve growth factor receptor TrkA. A model for discriminating proliferation and differentiation. (PMID: 10092678) Meakin SO … Verdi JM (The Journal of biological chemistry 1999) 3 4 22 58
  4. Novel recognition motif on fibroblast growth factor receptor mediates direct association and activation of SNT adapter proteins. (PMID: 9660748) Xu H … Goldfarb M (The Journal of biological chemistry 1998) 2 3 4 58
  5. Aberrant receptor internalization and enhanced FRS2-dependent signaling contribute to the transforming activity of the fibroblast growth factor receptor 2 IIIb C3 isoform. (PMID: 19103595) Cha JY … Der CJ (The Journal of biological chemistry 2009) 3 22 58

Products for FRS2 Gene

Sources for FRS2 Gene

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