ENSG00000149970


Homo sapiens

Features
Gene ID: ENSG00000149970
  
Biological name :CNKSR2
  
Synonyms : CNKSR2 / connector enhancer of kinase suppressor of Ras 2 / Q8WXI2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p22.12
Gene start: 21372801
Gene end: 21654695
  
Corresponding Affymetrix probe sets: 1554607_at (Human Genome U133 Plus 2.0 Array)   206731_at (Human Genome U133 Plus 2.0 Array)   229116_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496573
Ensembl peptide - ENSP00000496709
Ensembl peptide - ENSP00000279451
Ensembl peptide - ENSP00000368824
Ensembl peptide - ENSP00000397906
Ensembl peptide - ENSP00000444633
Ensembl peptide - ENSP00000494115
Ensembl peptide - ENSP00000494416
Ensembl peptide - ENSP00000494906
Ensembl peptide - ENSP00000494962
Ensembl peptide - ENSP00000494983
Ensembl peptide - ENSP00000495012
Ensembl peptide - ENSP00000495189
Ensembl peptide - ENSP00000495325
Ensembl peptide - ENSP00000495501
Ensembl peptide - ENSP00000495695
Ensembl peptide - ENSP00000495954
Ensembl peptide - ENSP00000496088
Ensembl peptide - ENSP00000496186
NCBI entrez gene - 22866     See in Manteia.
OMIM - 300724
RefSeq - NM_001168647
RefSeq - NM_001168648
RefSeq - NM_001168649
RefSeq - NM_001330770
RefSeq - NM_001330773
RefSeq - NM_014927
RefSeq - XM_017029358
RefSeq - XM_011545471
RefSeq - XM_011545472
RefSeq Peptide - NP_001317699
RefSeq Peptide - NP_001317700
RefSeq Peptide - NP_001317702
RefSeq Peptide - NP_055742
RefSeq Peptide - NP_001162120
RefSeq Peptide - NP_001162118
RefSeq Peptide - NP_001162119
swissprot - Q8WXI2
Ensembl - ENSG00000149970
  
Related genetic diseases (OMIM): 301008 - Mental retardation, X-linked, syndromic, Houge type, 301008
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cnksr2aENSDARG00000074480Danio rerio
 cnksr2bENSDARG00000073707Danio rerio
 ENSGALG00000033942Gallus gallus
 ENSGALG00000016391Gallus gallus
 Ksr2ENSMUSG00000025658Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CNKSR3 / Q6P9H4 / CNKSR family member 3ENSG0000015372130
CNKSR1 / Q969H4 / connector enhancer of kinase suppressor of Ras 1ENSG0000014267522
IPCEF1 / Q8WWN9 / interaction protein for cytohesin exchange factors 1ENSG0000007470616


Protein motifs (from Interpro)
Interpro ID Name
 IPR001478  PDZ domain
 IPR001660  Sterile alpha motif domain
 IPR001849  Pleckstrin homology domain
 IPR010599  Connector enhancer of kinase suppressor of ras 2
 IPR011993  PH-like domain superfamily
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR017874  CRIC domain
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0009966 regulation of signal transduction IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by RAS mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001249 Mental retardation 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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