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Aliases for CNKSR2 Gene

Aliases for CNKSR2 Gene

  • Connector Enhancer Of Kinase Suppressor Of Ras 2 2 3 5
  • CNK Homolog Protein 2 3 4
  • CNK2 3 4
  • KSR2 3 4
  • Membrane-Associated Guanylate Kinase-Interacting Protein 3
  • Connector Enhancer Of KSR 2 4
  • Connector Enhancer Of KSR2 3
  • KIAA0902 4
  • MAGUIN 3
  • MRXSHG 3

External Ids for CNKSR2 Gene

Previous GeneCards Identifiers for CNKSR2 Gene

  • GC0XP020754
  • GC0XP021152
  • GC0XP021302
  • GC0XP019116

Summaries for CNKSR2 Gene

Entrez Gene Summary for CNKSR2 Gene

  • 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]

GeneCards Summary for CNKSR2 Gene

CNKSR2 (Connector Enhancer Of Kinase Suppressor Of Ras 2) is a Protein Coding gene. Diseases associated with CNKSR2 include Mental Retardation, X-Linked, Syndromic, Houge Type and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are RET signaling and Oncogenic MAPK signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is CNKSR3.

UniProtKB/Swiss-Prot for CNKSR2 Gene

  • May function as an adapter protein or regulator of Ras signaling pathways.

Gene Wiki entry for CNKSR2 Gene

Additional gene information for CNKSR2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNKSR2 Gene

Genomics for CNKSR2 Gene

GeneHancer (GH) Regulatory Elements for CNKSR2 Gene

Promoters and enhancers for CNKSR2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI021373 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.8 +0.5 486 2.6 CTCF MXI1 L3MBTL2 MAX SIN3A POLR2A SCRT2 ZBTB26 EZH2 LOC105373146 CNKSR2 YY2 RARRES2P3
GH0XI021408 Enhancer 0.2 ENCODE 13 +34.1 34144 0.2 CNKSR2 RARRES2P3
GH0XI021438 Enhancer 0.6 Ensembl ENCODE 0.2 +65.1 65138 1.9 ELF1 SPI1 RARRES2P3 CNKSR2 PIR41368
GH0XI021411 Enhancer 0.3 ENCODE 0.3 +37.9 37860 1.6 SP1 RARRES2P3 CNKSR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CNKSR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CNKSR2 gene promoter:

Genomic Locations for CNKSR2 Gene

Genomic Locations for CNKSR2 Gene
280,282 bases
Plus strand

Genomic View for CNKSR2 Gene

Genes around CNKSR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNKSR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNKSR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNKSR2 Gene

Proteins for CNKSR2 Gene

  • Protein details for CNKSR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Connector enhancer of kinase suppressor of ras 2
    Protein Accession:
    Secondary Accessions:
    • B4DGR4
    • B7ZLJ1
    • B9EG83
    • E7ESA4
    • O94976
    • Q5JPK4
    • Q5JPN0
    • Q8WXI1

    Protein attributes for CNKSR2 Gene

    1034 amino acids
    Molecular mass:
    117535 Da
    Quaternary structure:
    • Interacts with RAF1, RAB2L and RAL GTPase proteins.

    Three dimensional structures from OCA and Proteopedia for CNKSR2 Gene

    Alternative splice isoforms for CNKSR2 Gene


neXtProt entry for CNKSR2 Gene

Post-translational modifications for CNKSR2 Gene

No data available for DME Specific Peptides for CNKSR2 Gene

Domains & Families for CNKSR2 Gene

Suggested Antigen Peptide Sequences for CNKSR2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CNKSR family.
  • Belongs to the CNKSR family.
genes like me logo Genes that share domains with CNKSR2: view

Function for CNKSR2 Gene

Molecular function for CNKSR2 Gene

UniProtKB/Swiss-Prot Function:
May function as an adapter protein or regulator of Ras signaling pathways.

Phenotypes From GWAS Catalog for CNKSR2 Gene

Gene Ontology (GO) - Molecular Function for CNKSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18287031
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with CNKSR2: view
genes like me logo Genes that share phenotypes with CNKSR2: view

Human Phenotype Ontology for CNKSR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CNKSR2 Gene

Localization for CNKSR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNKSR2 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNKSR2 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 2
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNKSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0043005 neuron projection IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with CNKSR2: view

Pathways & Interactions for CNKSR2 Gene

SuperPathways for CNKSR2 Gene

SuperPathway Contained pathways
1 RET signaling
2 Signaling by moderate kinase activity BRAF mutants
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 HIV Life Cycle
genes like me logo Genes that share pathways with CNKSR2: view

Pathways by source for CNKSR2 Gene

SIGNOR curated interactions for CNKSR2 Gene


Gene Ontology (GO) - Biological Process for CNKSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009966 regulation of signal transduction IEA --
genes like me logo Genes that share ontologies with CNKSR2: view

Drugs & Compounds for CNKSR2 Gene

No Compound Related Data Available

Transcripts for CNKSR2 Gene

Unigene Clusters for CNKSR2 Gene

Connector enhancer of kinase suppressor of Ras 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNKSR2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP2: -
SP4: -

Relevant External Links for CNKSR2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CNKSR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNKSR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNKSR2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.1), Brain - Frontal Cortex (BA9) (x5.6), Brain - Cerebellum (x5.6), Brain - Nucleus accumbens (basal ganglia) (x4.5), Brain - Anterior cingulate cortex (BA24) (x4.5), and Brain - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for CNKSR2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (68.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CNKSR2 Gene

Protein tissue co-expression partners for CNKSR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CNKSR2 Gene:


SOURCE GeneReport for Unigene cluster for CNKSR2 Gene:


Evidence on tissue expression from TISSUES for CNKSR2 Gene

  • Nervous system(4.9)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with CNKSR2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNKSR2 Gene

Orthologs for CNKSR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNKSR2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CNKSR2 33 34
  • 96.36 (n)
(Canis familiaris)
Mammalia CNKSR2 33 34
  • 95.04 (n)
(Bos Taurus)
Mammalia CNKSR2 33 34
  • 94.91 (n)
(Rattus norvegicus)
Mammalia Cnksr2 33
  • 94.02 (n)
(Monodelphis domestica)
Mammalia CNKSR2 34
  • 94 (a)
(Mus musculus)
Mammalia Cnksr2 33 16 34
  • 93.77 (n)
(Ornithorhynchus anatinus)
Mammalia CNKSR2 34
  • 88 (a)
(Gallus gallus)
Aves CNKSR2 33 34
  • 81.88 (n)
(Anolis carolinensis)
Reptilia CNKSR2 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cnksr2 33
  • 78.71 (n)
(Danio rerio)
Actinopterygii cnksr2b 34
  • 71 (a)
cnksr2a 33 34
  • 68.82 (n)
Dr.26298 33
fruit fly
(Drosophila melanogaster)
Insecta cnk 34
  • 17 (a)
(Caenorhabditis elegans)
Secernentea cnk-1 34
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
Species where no ortholog for CNKSR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNKSR2 Gene

Gene Tree for CNKSR2 (if available)
Gene Tree for CNKSR2 (if available)

Paralogs for CNKSR2 Gene

Paralogs for CNKSR2 Gene

(2) SIMAP similar genes for CNKSR2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CNKSR2: view

Variants for CNKSR2 Gene

Sequence variations from dbSNP and Humsavar for CNKSR2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs606231282 pathogenic, MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE 21,440,715(+) A/AA coding_sequence_variant, frameshift
rs771705122 A colorectal cancer sample 21,426,569(+) G/A coding_sequence_variant, missense_variant
rs904072058 pathogenic, MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE 21,606,868(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs1064793729 pathogenic, not provided 21,606,880(+) G/A splice_donor_variant
rs1064794022 pathogenic, not provided 21,532,046(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for CNKSR2 Gene

Variant ID Type Subtype PubMed ID
esv3309065 CNV mobile element insertion 20981092
esv3334033 CNV insertion 20981092
nsv476176 CNV novel sequence insertion 20440878
nsv510819 CNV deletion 20534489
nsv6830 CNV insertion 18451855

Variation tolerance for CNKSR2 Gene

Residual Variation Intolerance Score: 3.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.38; 42.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNKSR2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNKSR2 Gene

Disorders for CNKSR2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CNKSR2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic, houge type
  • mrxshg
undetermined early-onset epileptic encephalopathy
  • undetermined eoee
x-linked non-specific intellectual disability
  • x-linked non-syndromic intellectual disability
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
syndromic x-linked intellectual disability
  • syndromic intellectual disability, x-linked
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CNKSR2

genes like me logo Genes that share disorders with CNKSR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNKSR2 Gene

Publications for CNKSR2 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Human homologue of Drosophila CNK interacts with Ras effector proteins Raf and Rlf. (PMID: 14597674) Lanigan TM … Guan KL (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2003) 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58

Products for CNKSR2 Gene

Sources for CNKSR2 Gene

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