Gene: RPS6KA3

Alternate names for this Gene: CLS|HU-3|ISPK-1|MAPKAPK1B|MRX19|RSK|RSK2|S6K-alpha3|p90-RSK2|pp90RSK2

Gene Summary: This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS).

Gene is located in Chromosome: X

Location in Chromosome : Xp22.12

Description of this Gene: ribosomal protein S6 kinase A3

Type of Gene: protein-coding

rs122454124 in RPS6KA3 gene and Coffin-Lowry syndrome PMID 15214012 2004 Cardiomyopathy in Coffin-Lowry syndrome.

PMID 8955270 1996 Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.

PMID 9837815 1998 Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

PMID 14986828 2003 Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

PMID 10528858 1999 Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.

PMID 10094187 1999 Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).

PMID 14986828 2003 Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

rs1555927554 in RPS6KA3 gene and Dysmorphic features PMID 26043507 2015 A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 17100996 2006 Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

PMID 24311527 2014 Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

PMID 25044551 2014 The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

PMID 20637903 2011 Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

PMID 24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 11180593 2001 Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

PMID 15668050 2005 RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

PMID 12030896 2002 Cognitive function in Coffin-Lowry syndrome.

rs122454129 in RPS6KA3 gene and Mental Retardation, X-Linked 19 PMID 10319851 1999 A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.

PMID 17100996 2006 Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

rs1555927554 in RPS6KA3 gene and Multiple congenital anomalies PMID 12030896 2002 Cognitive function in Coffin-Lowry syndrome.

PMID 20637903 2011 Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

PMID 24311527 2014 Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

PMID 11180593 2001 Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

PMID 25044551 2014 The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

PMID 26043507 2015 A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

PMID 15668050 2005 RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

PMID 17100996 2006 Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

rs1555939377 in RPS6KA3 gene and Muscle hypotonia PMID 15668050 2005 RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

PMID 11180593 2001 Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

PMID 20637903 2011 Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 12030896 2002 Cognitive function in Coffin-Lowry syndrome.

PMID 17100996 2006 Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

PMID 25044551 2014 The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

PMID 24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

PMID 24311527 2014 Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

PMID 26043507 2015 A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.