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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 (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 Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Signaling by GPCR and Oncogenic MAPK signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is CNKSR3.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ021373 | Promoter/Enhancer | 1.6 | EPDnew Ensembl ENCODE CraniofacialAtlas | 250.7 | +2.3 | 2300 | 4.2 | CTCF BHLHE40 POLR2A TAF1 IKZF1 L3MBTL2 RAD21 SIN3A EZH2 ZBTB26 | CNKSR2 5MWI_A-182 ENSG00000283380 LOC105373146 YY2 HSALNG0136941 RARRES2P3 KLHL34 | |
GH0XJ021408 | Enhancer | 0.3 | Ensembl ENCODE | 13 | +35.7 | 35700 | 0.6 | CNKSR2 HSALNG0136941 RARRES2P3 5MWI_A-182 KLHL34 | ||
GH0XJ021395 | Enhancer | 0.2 | Ensembl | 13.1 | +23.0 | 23000 | 1.2 | CNKSR2 5MWI_A-182 RARRES2P3 HSALNG0136941 KLHL34 | ||
GH0XJ021438 | Enhancer | 0.4 | ENCODE | 0.2 | +66.8 | 66751 | 1.9 | SPI1 ELF1 ZBTB40 | HSALNG0136942 CNKSR2 piR-60885-168 KLHL34 | |
GH0XJ021378 | Enhancer | 0.2 | Ensembl | 0.4 | +6.3 | 6300 | 0.6 | 5MWI_A-182 CNKSR2 RARRES2P3 HSALNG0136941 KLHL34 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 18287031 |
GO:0019901 | protein kinase binding | IDA | 14597674 |
GO:0042802 | identical protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IDA | 14597674 |
GO:0014069 | postsynaptic density | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0043005 | neuron projection | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Paradoxical activation of RAF signaling by kinase inactive BRAF | ||
3 | Developmental Biology |
.51
|
|
4 | Cytokine Signaling in Immune system | ||
5 | HIV Life Cycle |
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009966 | regulation of signal transduction | IEA | -- |
GO:0035556 | intracellular signal transduction | IDA | 14597674 |
GO:0099173 | postsynapse organization | IEA | -- |
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: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CNKSR2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CNKSR2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CNKSR2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cnksr2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CNKSR2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cnksr2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CNKSR2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CNKSR2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CNKSR2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cnksr2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cnksr2b 31 |
|
OneToMany | |
cnksr2a 30 31 |
|
OneToMany | |||
Dr.26298 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | cnk 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | cnk-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
620061 | Uncertain Significance: Intellectual disability | 21,426,560(+) |
A/G NM_014927.5(CNKSR2):c.128A>G (p.Gln43Arg) |
MISSENSE | |
620066 | Likely Pathogenic: Intellectual disability | 21,426,661(+) |
G/A NM_014927.5(CNKSR2):c.228+1G>A |
SPLICE_DONOR | |
872222 | Uncertain Significance: not provided | 21,609,569(+) |
G/A NM_014927.5(CNKSR2):c.2644G>A (p.Glu882Lys) |
MISSENSE | |
872223 | Uncertain Significance: not provided | 21,652,504(+) |
A/C NM_014927.5(CNKSR2):c.3088A>C (p.Ile1030Leu) |
MISSENSE | |
930649 | Uncertain Significance: Intellectual disability, X-linked, syndromic, Houge type | 21,561,500(+) |
G/C NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln) |
MISSENSE_VARIANT,INTRON |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, x-linked, syndromic, houge type |
|
|
alacrima, achalasia, and mental retardation syndrome |
|
|
undetermined early-onset epileptic encephalopathy |
|
|
non-syndromic x-linked intellectual disability |
|
|
disease of mental health |
|
|