FRS2 - fibroblast growth factor receptor substrate 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10818

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
Molecular Function GO Annotation Evidence Verweise Source
enables fibroblast growth factor receptor binding IPI
IPI: Inferred from physical interaction
9660748 GOA
enables neurotrophin TRKA receptor binding IPI
IPI: Inferred from physical interaction
15488758 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9632781 GOA
Biological Process GO Annotation Evidence Verweise Source
acts upstream of or within fibroblast growth factor receptor signaling pathway IGI
IGI: Inferred from genetic interaction
9660748 GOA
involved in negative regulation of cardiac muscle cell differentiation IGI
IGI: Inferred from genetic interaction
23939491 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in adherens junction IDA
IDA: Inferred from direct assay
25468996 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FRS2 Protein Structure

IRS

IRS: PTB domain (IRS-1 type) (18 - 107)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 508 a.a.
Protein Preferred Names Protein Names

fibroblast growth factor receptor substrate 2

  • FGFR signalling adaptor

FRS2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
FRS2 Q8WU20 FGFR1 Homo sapiens P11362 21765395
Intra
FRS2 Q8WU20 PTPN11 Homo sapiens Q06124 9632781
Cross: Cross-species interaction Intra: Intraspecies interaction

FRS2 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P81655 FRS2 Antibody (YA1400) WB, IP Human
HY-P81655A FRS2 Antibody (YA1400)(PBS only) WB, IP Human

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

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
Others FRS2 NCBI