CNKSR2 - connector enhancer of kinase suppressor of Ras 2 Gene

中文名称：Ras 2 激酶抑制因子的连接增强子

种属: Homo sapiens

同用名: CNK2; KSR2; MAGUIN; MRXSHG

基因 ID: 22866 | 基因类型: protein coding

关于 CNKSR2

Cytogenetic location: Xp22.12 Genomic coordinates (GRCh38): X:21,374,418-21,654,689 (from NCBI)

This gene has 40 transcripts (splice variants), 228 orthologues, 4 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 9.7), adrenal (RPKM 1.3) and 2 other tissues.

功能概要

该基因编码一种多结构域蛋白，作为支架蛋白发挥作用，介导 Ras 下游的丝裂原活化蛋白激酶通路。该基因产物由维生素 D 诱导并抑制某些癌细胞的细胞凋亡。它还可能在突触后膜上突触蛋白的三元复合物组装以及信号转导与膜/细胞骨架重塑的耦合中发挥作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 12 月]

This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits Apoptosis in certain Cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

CNKSR2 基因产物(8)

mRNA	Protein	Name
NM_001168647.3	NP_001162118.1	connector enhancer of kinase suppressor of ras 2 isoform 2
NM_001168648.3	NP_001162119.1	connector enhancer of kinase suppressor of ras 2 isoform 3
NM_001168649.3	NP_001162120.1	connector enhancer of kinase suppressor of ras 2 isoform 4
NM_001330770.2	NP_001317699.1	connector enhancer of kinase suppressor of ras 2 isoform 5
NM_001330771.2	NP_001317700.1	connector enhancer of kinase suppressor of ras 2 isoform 6
NM_001330772.2	NP_001317701.1	connector enhancer of kinase suppressor of ras 2 isoform 7
NM_001330773.2	NP_001317702.1	connector enhancer of kinase suppressor of ras 2 isoform 8
NM_014927.5	NP_055742.2	connector enhancer of kinase suppressor of ras 2 isoform 1

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 protein binding	IPI IPI: 通过物理相互作用推断	18287031	GOA
enables protein kinase binding	IDA IDA: 通过直接分析推断	14597674	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within intracellular signal transduction	IDA IDA: 通过直接分析推断	14597674	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	14597674	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

CNKSR2 蛋白结构

SAM_1

CRIC_ras_sig

PDZ

DUF1170

0
200
400
600
800
1034 a.a.

蛋白主名

其他名称

connector enhancer of kinase suppressor of ras 2

CNK homolog protein 2

CNKSR2 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
Intra	CNKSR2	Q8WXI2	EGFR	Homo sapiens	P00533	Anti Tag CoIP	27956147
Cross	CNKSR2	Q8WXI2	ave	Drosophila melanogaster	Q8ML92	GMS	18287031
Cross	CNKSR2	Q8WXI2	ave	Drosophila melanogaster	Q8ML92	SPR	18287031
Cross	CNKSR2	Q8WXI2	ave	Drosophila melanogaster	Q8ML92	X-Ray Diffraction	18287031
Cross	CNKSR2	Q8WXI2	ave	Drosophila melanogaster	Q8ML92	Pull Down	18287031

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type

Mental Retardation, X-Linked, Syndromic, Houge Type	MRXSHG
Intellectual Developmental Disorder, X-Linked Syndromic, Houge Type

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Aphasia

Landau-Kleffner Syndrome

Acquired Epileptic Aphasia	Lks
Acquired Aphasia With Convulsive Disorder	Acquired Epileptiform Aphasia
Landau Kleffner Syndrome	Childhood Epileptic Aphasia

Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability

Congenital Muscular Dystrophy With Cataracts And Intellectual Disability

MDCCAID

Christianson Syndrome

X-Linked Angelman-Like Syndrome	X-Linked Intellectual Disability, South African Type
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome	Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
Mental Retardation, X-Linked Syndromic, Christianson Type	Mrxsch
Angelman-Like Syndrome X-Linked	Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome
Intellectual Disability X-Linked Syndromic Christianson Type	Mrxs Christianson
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy	Angelman-Like Syndrome, X-Linked
Intellectual Deficit, X-Linked, South African Type	Mental Retardation X-Linked, South African Type
Mental Retardation, X-Linked, Syndromic, Christianson Type

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Syndromic Intellectual Disability

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02889	CNKSR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	CNKSR2	VGNC	VGNC:27505
Macaca mulatta	CNKSR2	VGNC	VGNC:71223
Canis familiaris	CNKSR2	VGNC	VGNC:39404
Mus musculus	CNKSR2	MGD	MGI:2661175
Rattus norvegicus	CNKSR2	RGD	RGD:708454
Felis catus	CNKSR2	VGNC	VGNC:61018

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