2. Gene
  3. CNKSR2 - connector enhancer of kinase suppressor of Ras 2 Gene

CNKSR2 - connector enhancer of kinase suppressor of Ras 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CNK2; KSR2; MAGUIN; MRXSHG

Gene ID: 22866 | Gene type: protein coding

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

CNKSR2 Protein Structure

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (9 - 71)

CRIC_ras_sig

CRIC_ras_sig: Connector enhancer of kinase suppressor of ras (84 - 178)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (223 - 292)

DUF1170

DUF1170: Protein of unknown function (DUF1170) (338 - 514)

PH

PH: PH domain (573 - 668)

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  • 1034 a.a.
Protein Preferred Names Protein Names

connector enhancer of kinase suppressor of ras 2

CNK homolog protein 2

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02889 CNKSR2 Human Pre-designed siRNA Set A / 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