Entity Details

Primary name CNKSR2
Entity type gene
Source Source Link

Details

PrimaryID22866
RefseqGeneNG_016266
SymbolCNKSR2
Nameconnector enhancer of kinase suppressor of Ras 2
ChromosomeX
LocationXp22.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCNKR2_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0009966 regulation of signal transduction
GO:0019901 protein kinase binding
GO:0035556 intracellular signal transduction
GO:0042802 identical protein binding
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0070062 extracellular exosome
GO:0098978 glutamatergic synapse
GO:0099147 extrinsic component of postsynaptic density membrane
GO:0099173 postsynapse organization

Diseases

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Disease IDSourceNameDescription
301008 OMIMMental retardation, X-linked, syndromic, Houge type (MRXSHG)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHG is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. Carrier females may be mildly affected. The disease is caused by variants affecting the gene represented in this entry.