Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CNKSR2 Gene

Aliases for CNKSR2 Gene

  • Connector Enhancer Of Kinase Suppressor Of Ras 2 2 3 5
  • Connector Enhancer Of KSR 2 3 4
  • CNK Homolog Protein 2 3 4
  • CNK2 3 4
  • KSR2 3 4
  • Membrane-Associated Guanylate Kinase-Interacting Protein 3
  • Connector Enhancer Of KSR2 3
  • KIAA0902 4
  • MAGUIN 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 undetermined early-onset epileptic encephalopathy and syndromic x-linked intellectual disability. Among its related pathways are Interleukin-3, 5 and GM-CSF signaling and Developmental Biology. GO annotations related to this gene include identical protein binding. An important paralog of this gene is CNKSR1.

UniProtKB/Swiss-Prot for CNKSR2 Gene

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

Gene Wiki entry for CNKSR2 Gene

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

Genomics for CNKSR2 Gene

Regulatory Elements for CNKSR2 Gene

Enhancers for CNKSR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CNKSR2 on UCSC Golden Path with GeneCards custom track

Promoters for CNKSR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CNKSR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNKSR2 Gene

Chromosome:
X
Start:
21,374,414 bp from pter
End:
21,654,695 bp from pter
Size:
280,282 bases
Orientation:
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:
    Q8WXI2-CNKR2_HUMAN
    Recommended name:
    Connector enhancer of kinase suppressor of ras 2
    Protein Accession:
    Q8WXI2
    Secondary Accessions:
    • B4DGR4
    • B7ZLJ1
    • B9EG83
    • E7ESA4
    • O94976
    • Q5JPK4
    • Q5JPN0
    • Q8WXI1

    Protein attributes for CNKSR2 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for CNKSR2 Gene

Proteomics data for CNKSR2 Gene at MOPED

Post-translational modifications for CNKSR2 Gene

Other Protein References for CNKSR2 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CNKSR2

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

Q8WXI2

UniProtKB/Swiss-Prot:

CNKR2_HUMAN :
  • Contains 1 CRIC domain.
  • Belongs to the CNKSR family.
Domain:
  • Contains 1 CRIC domain.
  • Contains 1 DUF1170 domain.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 PH domain.
  • Contains 1 SAM (sterile alpha motif) domain.
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.
genes like me logo Genes that share phenotypes with CNKSR2: view

Animal Model Products

CRISPR Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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

COMPARTMENTS
Jensen Localization Image for CNKSR2 Gene COMPARTMENTS Subcellular localization image for CNKSR2 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for CNKSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0043005 neuron projection IEA --
GO:0043025 neuronal cell body IEA --
GO:0045211 postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with CNKSR2: view

Pathways & Interactions for CNKSR2 Gene

SuperPathways for CNKSR2 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Developmental Biology
3 Immune System
4 Signaling by GPCR
5 MAP2K and MAPK activation
genes like me logo Genes that share pathways with CNKSR2: view

Pathways by source for CNKSR2 Gene

SIGNOR curated interactions for CNKSR2 Gene

Activates:

Gene Ontology (GO) - Biological Process for CNKSR2 Gene

None

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:

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
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for CNKSR2 Gene

GeneLoc Exon Structure for
CNKSR2
ECgene alternative splicing isoforms for
CNKSR2

Expression for CNKSR2 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for CNKSR2 Gene



SOURCE GeneReport for Unigene cluster for CNKSR2 Gene Hs.555917

genes like me logo Genes that share expression patterns with CNKSR2: view

Protein tissue co-expression partners for CNKSR2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia CNKSR2 35
  • 94.91 (n)
  • 99.42 (a)
CNKSR2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNKSR2 35
  • 95.04 (n)
  • 99.32 (a)
CNKSR2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cnksr2 35
  • 93.77 (n)
  • 98.74 (a)
Cnksr2 16
Cnksr2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNKSR2 35
  • 96.36 (n)
  • 95.34 (a)
CNKSR2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnksr2 35
  • 94.02 (n)
  • 99.13 (a)
oppossum
(Monodelphis domestica)
Mammalia CNKSR2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNKSR2 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNKSR2 35
  • 81.88 (n)
  • 90.43 (a)
CNKSR2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNKSR2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnksr2 35
  • 78.71 (n)
  • 86.37 (a)
zebrafish
(Danio rerio)
Actinopterygii cnksr2a 35
  • 68.82 (n)
  • 78.18 (a)
Dr.26298 35
cnksr2a 36
  • 76 (a)
OneToMany
cnksr2b 36
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cnk 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cnk-1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for CNKSR2:
  • 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

ENSEMBL:
Gene Tree for CNKSR2 (if available)
TreeFam:
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 Sequence Context AA Info Type
VAR_035681 A colorectal cancer sample
rs747677939 -- 21,580,625(+) TAAAT(A/G)TGATT intron-variant
rs747695290 -- 21,550,991(+) AGACC(A/G)TTGCA intron-variant
rs747707139 -- 21,422,644(+) ACTTA(C/T)AGTTG intron-variant
rs747709956 -- 21,586,251(+) AAGCA(A/G)AGCTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv510819 CNV Loss 20534489
esv273338 CNV Insertion 20981092
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)

Relevant External Links for CNKSR2 Gene

HapMap Linkage Disequilibrium report
CNKSR2
Human Gene Mutation Database (HGMD)
CNKSR2

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

Disorders for CNKSR2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CNKSR2 Gene - From: Orphanet and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CNKSR2

Genetic Association Database (GAD)
CNKSR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.T. … Bentley D.R. (Nature 2005) 3 4 67
  2. CNKSR2 deletions: a novel cause of X-linked intellectual disability and seizures. (PMID: 25754917) Aypar U. … Hoppman N.L. (Am. J. Med. Genet. A 2015) 3
  3. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3
  4. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. (PMID: 25223753) Vaags A.K. … Minassian B.A. (Ann. Neurol. 2014) 3
  5. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. (PMID: 22511892) Houge G. … Hovland R. (Mol Syndromol 2012) 3

Products for CNKSR2 Gene

Sources for CNKSR2 Gene

Content