1. Gene
  2. FRS2 - fibroblast growth factor receptor substrate 2 Gene

FRS2 - fibroblast growth factor receptor substrate 2 Gene

中文名称:成纤维细胞生长因子受体底物 2

种属: Homo sapiens

同用名: SNT; SNT1; FRS1A; FRS2A; SNT-1; FRS2alpha

基因 ID: 10818 | 基因类型: protein coding

关于 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.

功能概要

启用成纤维细胞生长因子受体结合活性和神经营养蛋白 TrkA 受体结合活性。参与心肌细胞分化的负调节。作用于成纤维细胞生长因子受体信号通路的上游或内部。位于 adherens 路口。肾细胞癌的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables fibroblast growth factor receptor binding IPI
IPI: 通过物理相互作用推断
9660748 GOA
enables neurotrophin TRKA receptor binding IPI
IPI: 通过物理相互作用推断
15488758 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9632781 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within fibroblast growth factor receptor signaling pathway IGI
IGI: 通过遗传相互作用推断
9660748 GOA
involved in negative regulation of cardiac muscle cell differentiation IGI
IGI: 通过遗传相互作用推断
23939491 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in adherens junction IDA
IDA: 通过直接分析推断
25468996 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FRS2 蛋白结构

IRS

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 508 a.a.
蛋白主名 其他名称

fibroblast growth factor receptor substrate 2

FGFR signalling adaptor

FRS2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
FRS2 Q8WU20 FGFR1 Homo sapiens P11362 21765395
种属内
FRS2 Q8WU20 PTPN11 Homo sapiens Q06124 9632781
种属间: 跨种属相互作用 种属内: 同种属相互作用

FRS2 抗体

目录号 产品名 应用 反应物种
HY-P81655 FRS2 Antibody (YA1400) WB, IP Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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