CNKSR2 gene

connector enhancer of kinase suppressor of Ras 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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

From NCBI Gene:

  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE

From UniProt:

Mental 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. [MIM:301008]

Cytogenetic Location: Xp22.12, which is the short (p) arm of the X chromosome at position 22.12

Molecular Location: base pairs 21,374,298 to 21,654,695 on the X chromosome (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: Xp22.12, which is the short (p) arm of the X chromosome at position 22.12
  • CNK2
  • KSR2
  • MAGUIN
  • MRXSHG