Frs2 fibroblast growth factor receptor substrate 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Frs2provided by MGI
Official Full Name: fibroblast growth factor receptor substrate 2provided by MGI
Primary source: MGI:MGI:1100860
See related: Ensembl:ENSMUSG00000020170 AllianceGenome:MGI:1100860
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SNT1; SNT-1; Frs2alpha; FRS2-alpha; C330018A15Rik
Summary: Enables transmembrane receptor protein tyrosine kinase adaptor activity. Acts upstream of or within several processes, including camera-type eye development; nervous system development; and regulation of MAPK cascade. Located in cell-cell junction; cytoplasm; and plasma membrane. Is expressed in several structures, including blastocyst; central nervous system; genitourinary system; gut; and immune system. Orthologous to human FRS2 (fibroblast growth factor receptor substrate 2). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 13.1), CNS E14 (RPKM 10.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D2; 10 65.09 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (116905324..116986311, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (117070127..117148474, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FRS2-independent GRB2 interaction with FGFR2 is not required for embryonic development.
Title: FRS2-independent GRB2 interaction with FGFR2 is not required for embryonic development.
FRS2alpha-dependent cell fate transition during endocardial cushion morphogenesis.
Title: FRS2α-dependent cell fate transition during endocardial cushion morphogenesis.
FRS2 and FRS3, are together required for postnatal brain development. In the hippocampus, FRS2&3 promote dentate gyrus morphogenesis and dentate granule cell (DGC) maturation during developmental neurogenesis. Frs2,3-double mutants have reduced numbers of dendritic branches and spines in DGCs. Double-mutant mice exhibit fewer excitatory synaptic inputs onto DGCs.
Title: Neurotrophin and FGF Signaling Adapter Proteins, FRS2 and FRS3, Regulate Dentate Granule Cell Maturation and Excitatory Synaptogenesis.
FRS2alpha-mediated pathways are essential for the FGF15/FGF19-FGFR4 signaling axis to control bile acid homeostasis.
Title: Hepatocyte FRS2α is essential for the endocrine fibroblast growth factor to limit the amplitude of bile acid production induced by prandial activity.
controlsConclusionFrs2alpha(ST-/-) embryos have aberrant ureteric induction sites, improper ureteral insertion, shortened intravesicular lengths, and VUR
Title: Loss of peri-Wolffian duct stromal Frs2α expression in mice leads to abnormal ureteric bud induction and vesicoureteral reflux.
Embryonic day 18.5 Six2Frs2alphaKO kidneys were hypoplastic and not cystic, postnatal day (P) 7 mutants had proximal tubular-derived cysts that nearly replaced the renal parenchyma by P21. Mutants had high proximal tubular proliferation rates and interstitial fibrosis, similar to known polycystic kidney disease models.
Title: Six2creFrs2α knockout mice are a novel model of renal cystogenesis.
Fgfr signaling in nephron progenitors appears to be mediated predominantly by Frs2alpha.
Title: Fibroblast growth factor receptor-Frs2α signaling is critical for nephron progenitors.
Analysis of a mutant Fgfr1 allele, unable to bind to the adaptor protein, Frs2/3, indicates that Sox2 maintenance can be regulated by MAP kinase.
Title: FGFR1-Frs2/3 signalling maintains sensory progenitors during inner ear hair cell formation.
data from two models showed that FRS2 played different roles in the regulation of two activity levels of the ERK pathway components in the epididymis.
Title: The Role of fibroblast growth factor receptor substrate 2 (FRS2) in the regulation of two activity levels of the components of the extracellular signal-regulated kinase (ERK) pathway in the mouse epididymis.
Genetic evidence further supports that the formation of an Frs2alpha-Shp2 complex and its recruitment to FGF receptors are crucial for downstream ERK signaling in this process.
Title: Deficient FGF signaling causes optic nerve dysgenesis and ocular coloboma.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S329 (e-PCR)
- UniSTS:147555

NoName (e-PCR)
- UniSTS:548213

RH134714 (e-PCR)
- UniSTS:217992

PMC37478P1 (e-PCR)
- UniSTS:273304

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor receptor binding	ISO Inferred from Sequence Orthology more info
enables neurotrophin TRKA receptor binding	IEA Inferred from Electronic Annotation more info
enables neurotrophin TRKA receptor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein tyrosine kinase adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterior/posterior axis specification, embryo	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell surface receptor protein tyrosine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to fibroblast growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gastrulation with mouth forming second	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens fiber cell development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lens fiber cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens placode formation involved in camera-type eye formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cardiac muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cardiac muscle cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuroblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within organ induction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular septum development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IEA Inferred from Electronic Annotation more info
located_in adherens junction	ISO Inferred from Sequence Orthology more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: fibroblast growth factor receptor substrate 2

Names: FGFR substrate 2; FGFR-signaling adaptor SNT; suc1-associated neurotrophic factor target 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001408282.1 → NP_001395211.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408283.1 → NP_001395212.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408284.1 → NP_001395213.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408285.1 → NP_001395214.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408286.1 → NP_001395215.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408287.1 → NP_001395216.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408288.1 → NP_001395217.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408289.1 → NP_001395218.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408290.1 → NP_001395219.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408291.1 → NP_001395220.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408292.1 → NP_001395221.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408293.1 → NP_001395222.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408294.1 → NP_001395223.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408295.1 → NP_001395224.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408296.1 → NP_001395225.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408297.1 → NP_001395226.1 fibroblast growth factor receptor substrate 2 isoform 1

Status: VALIDATED

Source sequence(s)

AL589661

UniProtKB/Swiss-Prot

Q8C180
NM_001408308.1 → NP_001395237.1 fibroblast growth factor receptor substrate 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL589661
NM_001408309.1 → NP_001395238.1 fibroblast growth factor receptor substrate 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL589661
NM_001408310.1 → NP_001395239.1 fibroblast growth factor receptor substrate 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL589661
NM_001408311.1 → NP_001395240.1 fibroblast growth factor receptor substrate 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL589661
NM_001408312.1 → NP_001395241.1 fibroblast growth factor receptor substrate 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL589661
NM_001408313.1 → NP_001395242.1 fibroblast growth factor receptor substrate 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL589661
NM_001408314.1 → NP_001395243.1 fibroblast growth factor receptor substrate 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL589661
NM_177798.4 → NP_808466.1 fibroblast growth factor receptor substrate 2 isoform 1

See identical proteins and their annotated locations for NP_808466.1

Status: VALIDATED

Source sequence(s)

AL589661

Consensus CDS

CCDS24190.1

UniProtKB/Swiss-Prot

Q8C180

Related

ENSMUSP00000020381.4, ENSMUST00000020381.5

Conserved Domains (1) summary

cd01202
Location:15 → 106

PTB_FRS2; Fibroblast growth factor receptor substrate 2 phosphotyrosine-binding domain