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Aliases for RPS6KA3 Gene

Aliases for RPS6KA3 Gene

  • Ribosomal Protein S6 Kinase A3 2 3
  • Ribosomal Protein S6 Kinase, 90kDa, Polypeptide 3 3 5
  • MAP Kinase-Activated Protein Kinase 1b 3 4
  • Insulin-Stimulated Protein Kinase 1 3 4
  • MAPK-Activated Protein Kinase 1b 3 4
  • Ribosomal S6 Kinase 2 3 4
  • MAPKAP Kinase 1b 3 4
  • S6K-Alpha-3 3 4
  • EC 2.7.11.1 4 63
  • MAPKAPK-1b 3 4
  • P90-RSK 3 3 4
  • MAPKAPK1B 3 4
  • Pp90RSK2 3 4
  • ISPK-1 3 4
  • RSK-2 3 4
  • RSK2 3 4
  • Ribosomal Protein S6 Kinase, 90kD, Polypeptide 3 2
  • 90 KDa Ribosomal Protein S6 Kinase 3 4
  • S6K-Alpha3 3
  • EC 2.7.11 63
  • P90-RSK2 3
  • P90RSK3 4
  • MRX19 3
  • ISPK1 4
  • HU-3 3
  • CLS 3
  • RSK 3

External Ids for RPS6KA3 Gene

Previous HGNC Symbols for RPS6KA3 Gene

  • MRX19
  • CLS

Previous GeneCards Identifiers for RPS6KA3 Gene

  • GC0XU990207
  • GC0XM018839
  • GC0XM019371
  • GC0XM019534
  • GC0XM019933
  • GC0XM020077
  • GC0XM020168
  • GC0XM017910

Summaries for RPS6KA3 Gene

Entrez Gene Summary for RPS6KA3 Gene

  • 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]

GeneCards Summary for RPS6KA3 Gene

RPS6KA3 (Ribosomal Protein S6 Kinase A3) is a Protein Coding gene. Diseases associated with RPS6KA3 include coffin-lowry syndrome and non-syndromic x-linked intellectual disability. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is AKT1.

UniProtKB/Swiss-Prot for RPS6KA3 Gene

  • Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at Ser-10, which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at Ser-9 and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the preinitiation complex. In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at Ser-1798, which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression. In LPS-stimulated dendritic cells, is involved in TLR4-induced macropinocytosis, and in myeloma cells, acts as effector of FGFR3-mediated transformation signaling, after direct phosphorylation at Tyr-529 by FGFR3. Phosphorylates DAPK1.

Tocris Summary for RPS6KA3 Gene

  • Ribosomal S6 protein kinases (RSKs) are a family of protein serine/threonine kinases that regulate diverse cellular processes such as cellular growth, motility, survival and proliferation. The RSK family can be divided into two subfamilies, namely p90 RSK and p70 S6K.

Gene Wiki entry for RPS6KA3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS6KA3 Gene

Genomics for RPS6KA3 Gene

Regulatory Elements for RPS6KA3 Gene

Promoters for RPS6KA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RPS6KA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for RPS6KA3 Gene

Chromosome:
X
Start:
20,149,911 bp from pter
End:
20,267,100 bp from pter
Size:
117,190 bases
Orientation:
Minus strand

Genomic View for RPS6KA3 Gene

Genes around RPS6KA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS6KA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS6KA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS6KA3 Gene

Proteins for RPS6KA3 Gene

  • Protein details for RPS6KA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51812-KS6A3_HUMAN
    Recommended name:
    Ribosomal protein S6 kinase alpha-3
    Protein Accession:
    P51812
    Secondary Accessions:
    • B2R9V4
    • Q4VAP3
    • Q59H26
    • Q5JPK8
    • Q7Z3Z7

    Protein attributes for RPS6KA3 Gene

    Size:
    740 amino acids
    Molecular mass:
    83736 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Forms a complex with either MAPK1/ERK2 or MAPK3/ERK1 in quiescent cells. Transiently dissociates following mitogenic stimulation (By similarity). Interacts with NFATC4, ETV1/ER81 and FGFR1.
    SequenceCaution:
    • Sequence=BAD92170.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RPS6KA3 Gene

neXtProt entry for RPS6KA3 Gene

Proteomics data for RPS6KA3 Gene at MOPED

Post-translational modifications for RPS6KA3 Gene

  • Activated by phosphorylation at Ser-227 by PDPK1. Autophosphorylated on Ser-386, as part of the activation process. May be phosphorylated at Thr-365 and Ser-369 by MAPK1/ERK2 and MAPK3/ERK1. Can also be activated via phosphorylation at Ser-386 by MAPKAPK2.
  • N-terminal myristoylation results in an activated kinase in the absence of added growth factors.
  • Ubiquitination at Lys 81
  • Modification sites at PhosphoSitePlus

Other Protein References for RPS6KA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RPS6KA3 (RSK2)

Domains & Families for RPS6KA3 Gene

Graphical View of Domain Structure for InterPro Entry

P51812

UniProtKB/Swiss-Prot:

KS6A3_HUMAN :
  • Contains 1 AGC-kinase C-terminal domain.
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily.
Domain:
  • Contains 1 AGC-kinase C-terminal domain.
  • Contains 2 protein kinase domains.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily.
genes like me logo Genes that share domains with RPS6KA3: view

Function for RPS6KA3 Gene

Molecular function for RPS6KA3 Gene

GENATLAS Biochemistry:
ribosomal S6 kinase,polypeptide 3,growth factor regulated serine /threonine kinase family,responsive for the activation of glycogen synthesis,involved in cell proliferation and differentiation but not in vivo in the phosphorylation of RPS6,mediating protein synthesis initiation and elongation induced by hormones or growth factors,maybe playing an essentilal regulatory role in protein synthesis during cell proliferation,required for epidermal growth factor activated phosphorylation of histone H3
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Upon extracellular signal or mitogen stimulation, phosphorylated at Thr-577 in the C-terminal kinase domain (CTKD) by MAPK1/ERK2 and MAPK3/ERK1. The activated CTKD then autophosphorylates Ser-386, allowing binding of PDPK1, which in turn phosphorylates Ser-227 in the N-terminal kinase domain (NTDK) leading to the full activation of the protein and subsequent phosphorylation of the substrates by the NTKD.
UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at Ser-10, which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at Ser-9 and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the preinitiation complex. In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at Ser-1798, which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression. In LPS-stimulated dendritic cells, is involved in TLR4-induced macropinocytosis, and in myeloma cells, acts as effector of FGFR3-mediated transformation signaling, after direct phosphorylation at Tyr-529 by FGFR3. Phosphorylates DAPK1.

Enzyme Numbers (IUBMB) for RPS6KA3 Gene

Gene Ontology (GO) - Molecular Function for RPS6KA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA 18402937
genes like me logo Genes that share ontologies with RPS6KA3: view
genes like me logo Genes that share phenotypes with RPS6KA3: view

Human Phenotype Ontology for RPS6KA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RPS6KA3 Gene

MGI Knock Outs for RPS6KA3:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets and HOMER Transcription for RPS6KA3 Gene

Localization for RPS6KA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPS6KA3 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RPS6KA3 Gene COMPARTMENTS Subcellular localization image for RPS6KA3 gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 2
cytoskeleton 1
extracellular 1
golgi apparatus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for RPS6KA3 Gene

Pathways & Interactions for RPS6KA3 Gene

SuperPathways for RPS6KA3 Gene

Superpath Contained pathways
1 MyD88 cascade initiated on plasma membrane
2 Post NMDA receptor activation events
3 MAPK targets/ Nuclear events mediated by MAP kinases
4 Cellular Senescence
5 Interleukin-3, 5 and GM-CSF signaling
genes like me logo Genes that share pathways with RPS6KA3: view

SIGNOR curated interactions for RPS6KA3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for RPS6KA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 8955270
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction TAS 10436156
genes like me logo Genes that share ontologies with RPS6KA3: view

Drugs & Compounds for RPS6KA3 Gene

(18) Drugs for RPS6KA3 Gene - From: HMDB, Novoseek, Tocris, DrugBank, DGIdb, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker, Target 1029
Adenosine triphosphate Approved Nutra 0
Kaempferol Experimental Pharma Apoptosis inducer;antioxidant;flavonoid, Proapoptotic; downregulates PLK1 expression and activates mitochondrial Ca2+ uniporter 0
AT9283 Investigational Pharma inhibitor Aurora kinase/JAK inhibitor, Kinase Inhibitors, Inhibitors of mitosis Aurora kinase inhibitors 0
PF-4708671 Pharma P70 S6K1 isoform inhibitor,cell-permeable, S6K1 inhibitor 0

(6) Additional Compounds for RPS6KA3 Gene - From: HMDB, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
BRD 7389
376382-11-5
SL 0101-1
77307-50-7
genes like me logo Genes that share compounds with RPS6KA3: view

Drug Products

Transcripts for RPS6KA3 Gene

Unigene Clusters for RPS6KA3 Gene

Ribosomal protein S6 kinase, 90kDa, polypeptide 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RPS6KA3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b
SP1: - - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for RPS6KA3 Gene

GeneLoc Exon Structure for
RPS6KA3
ECgene alternative splicing isoforms for
RPS6KA3

Expression for RPS6KA3 Gene

mRNA expression in normal human tissues for RPS6KA3 Gene

mRNA differential expression in normal tissues according to GTEx for RPS6KA3 Gene

This gene is overexpressed in Muscle - Skeletal (x4.0).

Protein differential expression in normal tissues from HIPED for RPS6KA3 Gene

This gene is overexpressed in Lymph node (16.4) and Peripheral blood mononuclear cells (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RPS6KA3 Gene



SOURCE GeneReport for Unigene cluster for RPS6KA3 Gene Hs.445387

mRNA Expression by UniProt/SwissProt for RPS6KA3 Gene

P51812-KS6A3_HUMAN
Tissue specificity: Expressed in many tissues, highest levels in skeletal muscle.
genes like me logo Genes that share expression patterns with RPS6KA3: view

Protein tissue co-expression partners for RPS6KA3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for RPS6KA3 Gene

Orthologs for RPS6KA3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS6KA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPS6KA3 35
  • 96.66 (n)
  • 96.07 (a)
cow
(Bos Taurus)
Mammalia RPS6KA3 36
  • 100 (a)
OneToOne
RPS6KA3 35
  • 95.77 (n)
  • 99.86 (a)
dog
(Canis familiaris)
Mammalia RPS6KA3 35
  • 95.93 (n)
  • 99.86 (a)
RPS6KA3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rps6ka3 16
Rps6ka3 36
  • 100 (a)
OneToOne
Rps6ka3 35
  • 94.41 (n)
  • 99.86 (a)
oppossum
(Monodelphis domestica)
Mammalia RPS6KA3 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPS6KA3 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rps6ka3 35
  • 94.95 (n)
  • 99.73 (a)
chicken
(Gallus gallus)
Aves RPS6KA3 35
  • 86.43 (n)
  • 96.81 (a)
RPS6KA3 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPS6KA3 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33175 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496161 35
  • 79.63 (n)
  • 91.52 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.21039 35
rps6ka3b 35
  • 73.83 (n)
  • 85.63 (a)
rps6ka3a 36
  • 86 (a)
OneToMany
rps6ka3b 36
  • 86 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003040 35
  • 59.08 (n)
  • 67.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta S6kII 36
  • 48 (a)
OneToMany
Pk17E 37
  • 42 (a)
S6kII 37
  • 57 (a)
S6kII 35
  • 57.85 (n)
  • 63.08 (a)
worm
(Caenorhabditis elegans)
Secernentea rskn-1 36
  • 56 (a)
OneToMany
F28C10.3 37
  • 36 (a)
R04A9.5 37
  • 41 (a)
T01H8.1b 37
  • 62 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5313 35
soybean
(Glycine max)
eudicotyledons Gma.3835 35
barley
(Hordeum vulgare)
Liliopsida Hv.12219 35
rice
(Oryza sativa)
Liliopsida Os.11068 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8096 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 71 (a)
OneToMany
Species with no ortholog for RPS6KA3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPS6KA3 Gene

ENSEMBL:
Gene Tree for RPS6KA3 (if available)
TreeFam:
Gene Tree for RPS6KA3 (if available)

Paralogs for RPS6KA3 Gene

genes like me logo Genes that share paralogs with RPS6KA3: view

Variants for RPS6KA3 Gene

Sequence variations from dbSNP and Humsavar for RPS6KA3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs2230488 -- 20,186,343(-) ACACT(A/C)CCTTT reference, synonymous-codon
rs4129871 -- 20,207,075(-) agCAT(G/T)AACTA intron-variant
rs5901672 -- 20,246,143(+) AAAAA(-/A)GGGAA intron-variant
rs4825336 -- 20,245,263(+) ATTAA(A/G)GTTAT intron-variant
rs5909358 -- 20,149,778(+) GCATG(C/G)AAAAA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for RPS6KA3 Gene

Variant ID Type Subtype PubMed ID
nsv526033 CNV Gain 19592680
nsv520690 CNV Gain 19592680
esv2672797 CNV Deletion 23128226

Variation tolerance for RPS6KA3 Gene

Residual Variation Intolerance Score: 54.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPS6KA3 Gene

HapMap Linkage Disequilibrium report
RPS6KA3
Human Gene Mutation Database (HGMD)
RPS6KA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS6KA3 Gene

Disorders for RPS6KA3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for RPS6KA3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

KS6A3_HUMAN
  • Coffin-Lowry syndrome (CLS) [MIM:303600]: A X-linked mental retardation associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders. {ECO:0000269 PubMed:10094187, ECO:0000269 PubMed:10528858, ECO:0000269 PubMed:14986828, ECO:0000269 PubMed:15214012, ECO:0000269 PubMed:8955270, ECO:0000269 PubMed:9837815}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, X-linked 19 (MRX19) [MIM:300844]: A non-syndromic form of mild to moderate mental retardation. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation. {ECO:0000269 PubMed:10319851, ECO:0000269 PubMed:17100996}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RPS6KA3

Genetic Association Database (GAD)
RPS6KA3
Human Genome Epidemiology (HuGE) Navigator
RPS6KA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPS6KA3
genes like me logo Genes that share disorders with RPS6KA3: view

No data available for Genatlas for RPS6KA3 Gene

Publications for RPS6KA3 Gene

  1. Human rsk isoforms: cloning and characterization of tissue-specific expression. (PMID: 8141249) Moller D.E. … Jakubowski M. (Am. J. Physiol. 1994) 2 3 4 23 67
  2. Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. (PMID: 16879200) Delaunoy J.P. … Hanauer A. (Clin. Genet. 2006) 2 3 23
  3. X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1). (PMID: 11896450) Jacquot S. … Hanauer A. (Eur. J. Hum. Genet. 2002) 2 3 23
  4. p90 ribosomal S6 kinase 2 promotes invasion and metastasis of human head and neck squamous cell carcinoma cells. (PMID: 20234090) Kang S. … Chen J. (J. Clin. Invest. 2010) 3 23
  5. Mitogen-activated protein kinase-activated kinase RSK2 plays a role in innate immune responses to influenza virus infection. (PMID: 19129453) Kakugawa S. … Kawaoka Y. (J. Virol. 2009) 3 23

Products for RPS6KA3 Gene

Sources for RPS6KA3 Gene

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