Human Gene CNKSR2 (ENST00000379510.5_8) from GENCODE V47lift37
  Description: connector enhancer of kinase suppressor of Ras 2, transcript variant 1 (from RefSeq NM_014927.5)
Gencode Transcript: ENST00000379510.5_8
Gencode Gene: ENSG00000149970.16_20
Transcript (Including UTRs)
   Position: hg19 chrX:21,392,536-21,672,807 Size: 280,272 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chrX:21,393,016-21,670,639 Size: 277,624 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:21,392,536-21,672,807)mRNA (may differ from genome)Protein (1034 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CNKR2_HUMAN
DESCRIPTION: RecName: Full=Connector enhancer of kinase suppressor of ras 2; Short=Connector enhancer of KSR 2; AltName: Full=CNK homolog protein 2; Short=CNK2;
FUNCTION: May function as an adapter protein or regulator of Ras signaling pathways.
SUBUNIT: Interacts with RAF1, RAB2L and RAL GTPase proteins.
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein.
PTM: Phosphorylated on tyrosine.
SIMILARITY: Belongs to the CNKSR family.
SIMILARITY: Contains 1 CRIC domain.
SIMILARITY: Contains 1 DUF1170 domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CNKSR2
Diseases sorted by gene-association score: undetermined early-onset epileptic encephalopathy* (106), x-linked non-specific intellectual disability* (76), non-syndromic x-linked intellectual disability (14), syndromic x-linked intellectual disability (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.44 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 161.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -215.60480-0.449 Picture PostScript Text
3' UTR -497.402168-0.229 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010599 - CNKSR2
IPR017874 - CRIC_domain
IPR019555 - CRIC_domain_Chordata
IPR001478 - PDZ
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1

Pfam Domains:
PF00169 - PH domain
PF00536 - SAM domain (Sterile alpha motif)
PF00595 - PDZ domain
PF06663 - Protein of unknown function (DUF1170)
PF07647 - SAM domain (Sterile alpha motif)
PF10534 - Connector enhancer of kinase suppressor of ras

SCOP Domains:
47769 - SAM/Pointed domain
50156 - PDZ domain-like
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EAN - NMR MuPIT 3BS5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WXI2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0009966 regulation of signal transduction

Cellular Component:
GO:0005737 cytoplasm
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0045211 postsynaptic membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AB020709 - Homo sapiens mRNA for KIAA0902 protein, partial cds.
AK294728 - Homo sapiens cDNA FLJ61239 complete cds, highly similar to Connector enhancer of kinase suppressor of ras 2.
AF418270 - Homo sapiens connector enhancer of KSR2B mRNA, complete cds.
AF418269 - Homo sapiens connector enhancer of KSR2A mRNA, complete cds.
BC126121 - Homo sapiens connector enhancer of kinase suppressor of Ras 2, mRNA (cDNA clone MGC:161399 IMAGE:8991837), complete cds.
BC136289 - Homo sapiens connector enhancer of kinase suppressor of Ras 2, mRNA (cDNA clone MGC:167899 IMAGE:9020276), complete cds.
BC143839 - Homo sapiens connector enhancer of kinase suppressor of Ras 2, mRNA (cDNA clone MGC:177371 IMAGE:9052354), complete cds.
AK056549 - Homo sapiens cDNA FLJ31987 fis, clone NT2RP7008855, highly similar to Connector enhancer of kinase suppressor of ras 2.
JD144167 - Sequence 125191 from Patent EP1572962.
JD461122 - Sequence 442146 from Patent EP1572962.
JD187226 - Sequence 168250 from Patent EP1572962.
JD404652 - Sequence 385676 from Patent EP1572962.
JD187227 - Sequence 168251 from Patent EP1572962.
JD054985 - Sequence 36009 from Patent EP1572962.
JD410040 - Sequence 391064 from Patent EP1572962.
AK124258 - Homo sapiens cDNA FLJ42264 fis, clone TKIDN2014757.
JD323798 - Sequence 304822 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WXI2 (Reactome details) participates in the following event(s):

R-HSA-5672972 MAP2Ks and MAPKs bind to the activated RAF complex
R-HSA-6802912 High kinase activity BRAF mutants bind MAP2Ks and MAPKs
R-HSA-6802914 RAS:GTP:moderate kinase activity p-RAF complexes bind MAP2Ks and MAPKs
R-HSA-6802925 Mutant RAS:p-RAF complexes bind MAP2Ks and MAPKs
R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs
R-HSA-6802942 RAS:GTP:p-RAF complexes paradoxically bind MAP2Ks and MAPKs
R-HSA-5672980 Dissociation of RAS:RAF complex
R-HSA-6802932 Dissociation of BRAF/RAF fusion complex
R-HSA-6803227 Dissociation of high activity BRAF complexes
R-HSA-6803230 Dissociation of moderate activity BRAF complexes
R-HSA-6803233 Dissociation of oncogenic RAS:RAF complex
R-HSA-6803234 Dissociation of paradoxically activated RAS:BRAF complexes
R-HSA-5672978 RAF phosphorylates MAP2K dimer
R-HSA-5672973 MAP2Ks phosphorylate MAPKs
R-HSA-6802918 Activated MAP2Ks phosphorylate MAPKs downstream of inactive BRAF mutants
R-HSA-6802943 RAS:GTP:inactive p-RAF complexes phosphorylate MAP2Ks
R-HSA-6802919 RAS:GTP:moderate kinase activity p-RAF complexes phosphorylate MAP2Ks
R-HSA-6802921 Activated MAP2Ks phosphorylate MAPKs downstream of moderate kinase activity BRAF mutants
R-HSA-6802911 High kinase activity BRAF complexes phosphorylate MAP2Ks
R-HSA-6802910 Activated MAP2Ks phosphorylate MAPKs downstream of high kinase activity BRAF mutants
R-HSA-6802926 Mutant RAS:p-RAF complexes phosphorylate MAP2Ks
R-HSA-6802922 Activated MAP2Ks phosphorylate MAPKs downstream of oncogenic RAS
R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks
R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers
R-HSA-5674135 MAP2K and MAPK activation
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants
R-HSA-6802949 Signaling by RAS mutants
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5663202 Diseases of signal transduction
R-HSA-5683057 MAPK family signaling cascades
R-HSA-1643685 Disease
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B4DGR4, B7ZLJ1, B9EG83, CNK2, CNKR2_HUMAN, E7ESA4, ENST00000379510.1, ENST00000379510.2, ENST00000379510.3, ENST00000379510.4, KIAA0902, KSR2, NM_014927, O94976, Q5JPK4, Q5JPN0, Q8WXI1, Q8WXI2, uc318paf.1, uc318paf.2
UCSC ID: ENST00000379510.5_8
RefSeq Accession: NM_014927.5
Protein: Q8WXI2 (aka CNKR2_HUMAN or CNR2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.