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CNKSR2 - connector enhancer of kinase suppressor of Ras 2 Gene

Also Known as CNK2; KSR2; MAGUIN; MRXSHG

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22866

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18287031	GOA
enables protein kinase binding	IDA IDA: Inferred from direct assay	14597674	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within intracellular signal transduction	IDA IDA: Inferred from direct assay	14597674	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	14597674	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

CNKSR2 Protein Structure

SAM_1

CRIC_ras_sig

PDZ

DUF1170

0
200
400
600
800
1034 a.a.

Protein Preferred Names	Protein Names
connector enhancer of kinase suppressor of ras 2	CNK homolog protein 2

CNKSR2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02889	CNKSR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	CNKSR2	NCBI