RPS6KA3 ribosomal protein S6 kinase A3

Gene ID: 6197, updated on 2-Nov-2024
Gene type: protein coding
Also known as: CLS; RSK; HU-3; RSK2; MRX19; ISPK-1; XLID19; p90-RSK2; pp90RSK2; MAPKAPK1B; S6K-alpha3

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). [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Coffin-Lowry syndrome MedGen: C0265252OMIM: 303600GeneReviews: RPS6KA3-Related Intellectual Disability	See labs
Intellectual disability, X-linked 19 MedGen: C0796225OMIM: 300844GeneReviews: RPS6KA3-Related Intellectual Disability	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-06-14) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-06-14) ClinGen Genome Curation PagePubMed

Genomic context

Location:: Xp22.12

Sequence:: Chromosome: X; NC_000023.11 (20149911..20267097, complement)

Total number of exons:: 26

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for RPS6KA3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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