FRS2 - fibroblast growth factor receptor substrate 2 Gene

Homo sapiens

Also known as SNT; SNT1; FRS1A; FRS2A; SNT-1; FRS2alpha

Gene ID: 10818 | Gene type: protein coding

About FRS2

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:69,470,388-69,579,793 (from NCBI)

This gene has 11 transcripts (splice variants), 230 orthologues and 7 paralogues. Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.6) and 25 other tissues.

Summary

Enables Fibroblast Growth Factor receptor binding activity and neurotrophin TrkA receptor binding activity. Involved in negative regulation of cardiac muscle cell differentiation. Acts upstream of or within Fibroblast Growth Factor receptor signaling pathway. Located in adherens junction. Biomarker of renal cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]

FRS2 Products(8)

mRNA	Protein	Name
NM_001042555.3	NP_001036020.1	fibroblast growth factor receptor substrate 2
NM_001278351.2	NP_001265280.1	fibroblast growth factor receptor substrate 2
NM_001278353.2	NP_001265282.1	fibroblast growth factor receptor substrate 2
NM_001278354.2	NP_001265283.1	fibroblast growth factor receptor substrate 2
NM_001278355.2	NP_001265284.1	fibroblast growth factor receptor substrate 2
NM_001278356.2	NP_001265285.1	fibroblast growth factor receptor substrate 2
NM_001278357.2	NP_001265286.1	fibroblast growth factor receptor substrate 2
NM_006654.5	NP_006645.3	fibroblast growth factor receptor substrate 2

FRS2 Protein Structure

IRS

0
100
200
300
400
508 a.a.

Protein Preferred Names

Protein Names

fibroblast growth factor receptor substrate 2

FGFR signalling adaptor

Related Diseases

Diseases

Alias

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

SADDAN	Saddan Dysplasia
Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans	Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Ssb Syndrome	Skeleton Skin Brain Syndrome
Skeleton-Skin-Brain Syndrome	Achondroplasia

Liposarcoma

Lipomatous Cancer

Beare-Stevenson Cutis Gyrata Syndrome

Cutis Gyrata Syndrome Of Beare And Stevenson	Beare-Stevenson Syndrome
BSTVS	Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Beare Stevenson Syndrome	Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis
Cutis Gyrata Syndrome Of Beare-Stevenson

Central Nervous System Lipoma

Lipoma Of The Cns

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Parosteal Osteosarcoma

Juxtacortical Osteosarcoma	Parosteal Osteogenic Sarcoma
Osteosarcoma, Juxtacortical

Thanatophoric Dysplasia, Type I

Thanatophoric Dysplasia	Thanatophoric Dwarfism
Thanatophoric Dysplasia Type 1	TD1
Td	Thanatophoric Short Stature
Thanatophoric Dwarfism Type 1	Thanatophoric Dysplasia Type I
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type	Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
Skeletal Dysplasia, San Diego Type	Plsd San Diego Type
Thanatophoric Dwarfism 1	Dwarfism Thanatophoric
Dwarf, Thanatophoric	Thanatophoric Dysplasia 1
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type	Platyspondylic Lethal Skeletal Dysplasia San Diego Type
Thanatophoric Dwarf	Thanatophoric Dwarfism Or Short Stature
Thanatophoric Dwarfism Syndrome	Td - [Thanatophoric Dwarfism]

Peripheral Osteosarcoma

Surface Osteosarcoma

Bone Surface Osteosarcoma

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Well-Differentiated Liposarcoma

Atypical Lipomatous Tumor	Atypical Lipoma
Alt	Wdls
Liposarcoma, Well Differentiated	Pleomorphic Lipoma

Crouzon Syndrome

Crouzon Craniofacial Dysostosis	Craniofacial Dysostosis
Cfd1	Craniofacial Dysostosis Type 1
Crouzon Disease	Crouzon'S Disease
Craniofacial Dysostosis, Type I	Craniofacial Dysarthrosis
Craniofacial Dysostosis Syndrome	CS
Craniofacial Dysostosis Type I	Vogt Cephalosyndactyly

Pleomorphic Liposarcoma

Pls	Liposarcoma Pleomorphic
Liposarcoma, Pleomorphic

Dedifferentiated Liposarcoma

Ddls	Liposarcoma Dedifferentiated
Liposarcoma, Dedifferentiated

Lacrimoauriculodentodigital Syndrome

Ladd Syndrome	Levy-Hollister Syndrome
Lacrimo-Auriculo-Dento-Digital Syndrome	LADD
Lacrimoauriculodento-Digital Syndrome	Levy Hollister Syndrome
Lard Syndrome	Lacrimoauriculoradiodental Syndrome
LADDS	Congenital Duodenal Obstruction Due To Malrotation Of Intestine

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05112	FRS2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FRS2	RGD	RGD:1308201
Felis catus	FRS2	VGNC	VGNC:84021
Mus musculus	FRS2	MGD	MGI:1100860
Bos taurus	FRS2	VGNC	VGNC:29120
Macaca mulatta	FRS2	VGNC	VGNC:72732
Canis familiaris	FRS2	VGNC	VGNC:40986