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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RPS6KA6 Gene

protein-coding   GIFtS: 66
GCID: GC0XM083318

ribosomal protein S6 kinase, 90kDa, polypeptide 6

(Previous names: ribosomal protein S6 kinase, 90kD, polypeptide 6 )
 Explore 13 diseases affiliated with
RPS6KA6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RPS6KA6    

Aliases
for RPS6KA6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ribosomal Protein S6 Kinase, 90kDa, Polypeptide 61 2     EC 2.7.11.13 8
RSK41 2 3 5     Ribosomal Protein S6 Kinase, 90kD, Polypeptide 61
Ribosomal S6 Kinase 42 3     PP90RSK42
90 KDa Ribosomal Protein S6 Kinase 62 3     Ribosomal Protein S6 Kinase Alpha-62
RSK-42 3     S6K-Alpha 62
S6K-Alpha-61     Pp90RSK41
P90-RSK 62 3     EC 2.7.118
P90RSK61     

External Ids:    HGNC: 104351   Entrez Gene: 273302   Ensembl: ENSG000000721337   OMIM: 3003035   UniProtKB: Q9UK323   

Export aliases for RPS6KA6 gene to outside databases

Previous GC identifers: GC0XM078698 GC0XM080395 GC0XM081354 GC0XM082090 GC0XM083125 GC0XM076885


Summaries
for RPS6KA6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RPS6KA6:
This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by
growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it
is not growth factor dependent and may not participate in the same signaling pathways. (provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: KS6A6_HUMAN, Q9UK32
Function: Constitutively active serine/threonine-protein kinase that exhibits growth-factor-independent kinase activity
and that may participate in p53/TP53-dependent cell growth arrest signaling and play an inhibitory role during
embryogenesis

summary for RPS6KA6:
p90 ribosomal S6 kinases (RSKs) are a family of protein serine/threonine kinases that regulate diverse
cellular processes such as cell growth, motility, survival and proliferation. There are four isoforms of
this enzyme; RSK1-4, which are directly activated by ERK1/2 in response to growth factors, many polypeptide
hormones, neurotransmitters and chemokines. p90 RSKs phosphorylate numerous cytosolic and nuclear targets
and act as downstream effectors of the ERK/MAPK signaling cascade. They are expressed ubiquitously in human
tissues and exist in multiple subcellular compartments. Abberant activation of p90 RSKs has been linked to
many human diseases, including breast and prostate cancers.




Genomic Views
for RPS6KA6 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RPS6KA6 gene promoter:
         AML1a   Brachyury   CUTL1   IRF-1   YY1   S8   SRY   E2F   E2F-1   HFH-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RPS6KA6 promoter sequence
   Search SABiosciences Chromatin IP Primers for RPS6KA6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPS6KA6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21   Ensembl cytogenetic band:  Xq21.1   HGNC cytogenetic band: Xq21.1

RPS6KA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPS6KA6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM083318:  view genomic region     (about GC identifiers)

Start:
 83,313,354 bp from pter      End:
 83,442,943 bp from pter
Size:
 129,590 bases      Orientation:
 minus strand

Proteins
for RPS6KA6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: KS6A6_HUMAN, Q9UK32 (See protein sequence)
Recommended Name: Ribosomal protein S6 kinase alpha-6  
Size: 745 amino acids; 83872 Da
Cofactor: Magnesium (By similarity)
Subunit: Forms a complex with MAPK3/ERK1 but not with MAPK9 or MAPK14 in serum-starved cells
Subcellular location: Cytoplasm, cytosol. Nucleus. Note=Predominantly cytosolic
Secondary accessions: B2R854 Q6FHX2 Q8WX28 Q9H4S6

Explore the universe of human proteins at neXtProt for RPS6KA6: NX_Q9UK32

Post-translational modifications:

  • Phosphorylated at Ser-232, Ser-372, and Ser-389 in serum-starved cells1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UK32

    • 4/32 DME Specific Peptides for RPS6KA6 (Q9UK32) (see all 32)
     VVHRDLK  CDIWSLG  KLTDFGL  LYAMKVL 

    RPS6KA6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055311.1  
    ENSEMBL proteins: 
     ENSP00000262752   ENSP00000440830  
    Reactome Protein details: Q9UK32
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant RPS6KA6 Protein
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    Uscn Proteins for RPS6KA6

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--


    RPS6KA6 for ontologies           About GeneDecksing



    RPS6KA6 Antibody Products: 
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    Uscn ELISAs and CLIAs for RPS6KA6

    Protein Domains /
    Families
    for RPS6KA6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RPS6KA6 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR000961 AGC-kinase_C
     IPR011009 Kinase-like_dom
     IPR017892 Pkinase_C

    Graphical View of Domain Structure for InterPro Entry Q9UK32

    ProtoNet protein and cluster: Q9UK32

    1 Blocks protein family: IPB000961 Protein kinase C-terminal domain

    UniProtKB/Swiss-Prot: KS6A6_HUMAN, Q9UK32
    Similarity: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily
    Similarity: Contains 1 AGC-kinase C-terminal domain
    Similarity: Contains 2 protein kinase domains


    Function
    for RPS6KA6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: KS6A6_HUMAN, Q9UK32
    Function: Constitutively active serine/threonine-protein kinase that exhibits growth-factor-independent kinase activity
    and that may participate in p53/TP53-dependent cell growth arrest signaling and play an inhibitory role during
    embryogenesis
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Constitutively activated by phosphorylation at Ser-232, Ser-372, and Ser-389 in serum-starved cells.
    Does not require growth factor stimulation for significant kinase activity

         Genatlas biochemistry entry for RPS6KA6:
    ribosomal protein S6 kinase 4,abundantly expressed in brain and kidney,involved in neuronal development,member of a
    family of growth factor related serine threonine kinases,deleted in patients with complex X-linked mental retardation

    Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

    miRNA
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    8/101 QIAGEN miScript miRNA Assays for microRNAs that regulate RPS6KA6 (see all 101):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-548j hsa-miR-520e hsa-miR-520f hsa-miR-15a hsa-miR-106a hsa-miR-199a-3p
    SwitchGear 3'UTR luciferase reporter plasmid: RPS6KA6 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: RPS6KA6
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for RPS6KA6

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS6KA6

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004672protein kinase activity TAS10644430
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0005524ATP binding IEA--


    RPS6KA6 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RPS6KA6:
     Prevent p53-dependent growth a 

    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Rps6ka6):
     cardiovascular system  craniofacial  embryogenesis 

    RPS6KA6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RPS6KA6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/24 super-pathways (see all 24) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Axon guidance
    		Axon guidance1.00
    		Recycling pathway of L10.15
    		Developmental Biology0.69
    		Signal transduction by L10.12
    		L1CAM interactions0.39
    2Post NMDA receptor activation events
    		Post NMDA receptor activation events1.00
    		CREB phosphorylation through the activation of Ras0.82
    		Activation of NMDA receptor upon glutamate binding and postsynaptic events0.89
    3Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    		Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4mTOR Pathway
    		mTOR Pathway1.00
    		Insulin Pathway0.32
    5Apoptotic Pathways in Synovial Fibroblasts
    		Mitochondrial Apoptosis0.73
    		ERK5 Signaling0.61
    		Cellular Apoptosis Pathway0.65

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RPS6KA6 (see all 15)
        FLT3 Signaling
    MAPK Signaling
    Mitochondrial Apoptosis
    CNTF Signaling
    GDNF-Family Ligands and Receptor Interactions

    5 Tocris Bioscience Pathways for RPS6KA6
        Insulin Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    MAPK Pathway
    mTOR Pathway

    2 BioSystems Pathways for RPS6KA6 
        Cytoplasmic Ribosomal Proteins
    Insulin Signaling

    5/12        Reactome Pathways for RPS6KA6 (see all 12)
        L1CAM interactions
    Developmental Biology
    Transmission across Chemical Synapses
    Post NMDA receptor activation events
    Neuronal System


    5/6         Kegg Pathways  (Kegg details for RPS6KA6) (see all 6):
        MAPK signaling pathway
    Oocyte meiosis
    mTOR signaling pathway
    Long-term potentiation
    Neurotrophin signaling pathway


    RPS6KA6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RPS6KA6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/54 Interacting proteins for RPS6KA6 (Q9UK322, 3 ENSP000002627524) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C14orf1Q9UKR52, 3MINT-8269747 I2D: score=2 
    CEBPZQ037012, 3MINT-8269769 I2D: score=2 
    CENPBP071992, 3MINT-8269780 I2D: score=2 
    CLEC3BP054522, 3MINT-8269791 I2D: score=2 
    DHX34Q141472, 3MINT-8269802 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0006978DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IMP15042092
    GO:0007165signal transduction TAS10644430
    GO:0007243intracellular protein kinase cascade IEA--
    GO:0007268synaptic transmission TAS--


    RPS6KA6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RPS6KA6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for RPS6KA6 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SL 0101-1Selective p90 ribosomal S6 kinase (RSK) inhibitor[77307-50-7]

    3 HMDB Compounds for RPS6KA6    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Search CenterWatch for drugs/clinical trials and news about RPS6KA6 / KS6A6 

    Transcripts
    for RPS6KA6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for RPS6KA6 gene: 
    NM_014496.4  

    Unigene Cluster for RPS6KA6:

    Ribosomal protein S6 kinase, 90kDa, polypeptide 6
    Hs.234478  [show with all ESTs]
    Unigene Representative Sequence: NM_014496
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262752(uc004eej.2 uc011mqt.2 uc011mqu.2) ENST00000495332
    ENST00000460730 ENST00000543399(uc010nmo.1)

    miRNA
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    hsa-miR-411* hsa-miR-140-5p hsa-miR-548j hsa-miR-520e hsa-miR-520f hsa-miR-15a hsa-miR-106a hsa-miR-199a-3p
    SwitchGear 3'UTR luciferase reporter plasmid: RPS6KA6 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF184965.1 AK023104.1 AK026301.1 AK310346.1 AK313240.1 BC143647.1 BC143648.1 CR536566.1 

    4 DOTS entries:

    DT.40204461  DT.40112044  DT.95185890  DT.103574 

    10 AceView cDNA sequences:

    BU739434 BM714450 AA626690 CD359575 AF184965 NM_014496 BX117884 CR536566 
    H82896 H82897 

    GeneLoc Exon Structure


    Expression
    for RPS6KA6 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RPS6KA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RPS6KA6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephrosKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RPS6KA6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPS6KA6

    SOURCE GeneReport for Unigene cluster: Hs.234478
        SABiosciences Custom PCR Arrays for RPS6KA6
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS6KA6

    Orthologs
    for RPS6KA6 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPS6KA6 gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves RPS6KA61 ribosomal protein S6 kinase, 90kDa, polypeptide 6 82.41(n)
    87.55(a)    		   422273  XM_420257.2  XP_420257.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 84(a)
    80(a)
    		 1 ↔ many
    1 ↔ many
    		 AAWZ02037556(166-14922)
    GL343202.1(596342-632837)
    zebrafish
    (Danio rerio)    		 Actinopterygii BC045478.12   -- 75.79(n)   337670  BC045478.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta S6kII3 protein amino acid phosphorylation protein
    serine/threonine more    		 55(a)
    (best of 2)    		   20B1   --
    worm
    (Caenorhabditis elegans)    		 Secernentea T01H8.1b3 Protein kinase C terminal domain 60(a)
    (best of 3)    		   I(8582453-8585937)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons S6K26
    ATPK16
    		 serine/threonine-protein kinase AtPK1/AtPK6
    		 34(a)
    33(a)
    		 many ↔ many
    many ↔ many
    		 3(2648509-2651160)
    3(2651447-2654212)
    rice
    (Oryza sativa)    		 Liliopsida Os.135212 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.06(n)    AK072649.1 


    ENSEMBL Gene Tree for RPS6KA6 (if available)
    TreeFam Gene Tree for RPS6KA6 (if available) 

    Paralogs
    for RPS6KA6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RPS6KA6 gene
    AKT12  RPS6KB12  SGK32  SGK22  RPS6KA12  AKT32  RPS6KA52  RPS6KA42  
    SGK12  RPS6KB22  RPS6KA22  AKT22  RPS6KA32  
    18/71 SIMAP similar genes for RPS6KA6 using alignment to 2 protein entries:     KS6A6_HUMAN (see all proteins) (see all similar genes):
    RPS6KA3    RPS6KA2    RPS6KA1    KIN27    PRKACA    RPS6KB2
    SGK2    DKFZp564L2416    PRKACG    PRKY    PRKACB    AKT3
    SGK1    RPS6KB1    CAMK1D    MARK4    AKT1    PRKG1

    RPS6KA6 for paralogs           About GeneDecksing



    Genomic Variants
    for RPS6KA6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1462 NCBI SNPs in RPS6KA6 are shown (see all 1462)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2001028901,2
    		C,--83312899(+) AAATT-/TCTGTGT 1 -- ds50010--------
    rs1844987921,2
    		--83312937(+) CGGCAC/TACACG 1 -- ds50010--------
    rs66228941,2
    		C,F,H,--83312996(+) AAAAAA/CTGTTG 1 -- ds50014Minor allele frequency- C:0.12NS EA 420
    rs66228951,2
    		C,F,H,--83313048(+) AAAAGG/ATTGTC 1 -- ds50014Minor allele frequency- A:0.12NS EA 414
    rs1893248821,2
    		--83313102(+) TAAAAA/CTACTG 1 -- ds50010--------
    rs1436705361,2
    		--83313241(+) CACCTC/GGCCCC 1 -- ds50010--------
    rs1120299001,2
    		C,--83313263(+) TATCAC/TTGCCA 1 -- ds50011Minor allele frequency- T:0.00CSA 1
    rs66168881,2
    		C,F,A,H,--83313265(+) TCATTG/TCCAAT 1 -- ds50014Minor allele frequency- T:0.13NS EA 414
    rs1927024281,2
    		--83313322(+) TTTTAC/TATCCA 1 -- ds50010--------
    rs66228961,2
    		C,F,H,--83313439(+) ACAGAA/GTTTTA 1 -- ut318Minor allele frequency- G:0.84NS EA NA 564

    HapMap Linkage Disequilibrium report for RPS6KA6 (83313354 - 83442943 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RPS6KA6
         1 CNV: 0248
    Locus Specific Mutation Databases (LSDB): RPS6KA6

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    Disorders / Diseases
    for RPS6KA6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RPS6KA6 for disorders           About GeneDecksing

    OMIM gene information: 300303    OMIM disorders: --

    13 diseases for RPS6KA6:    About MalaCards
    x-linked nonsyndromic deafness    coffin-lowry syndrome    prostate cancer    prostatitis
    autism spectrum disorder    nonsyndromic deafness    choroideremia    endometrial cancer
    lung carcinoma    breast cancer    carcinoma    neuronitis
    choroiditis

    3 diseases from the University of Copenhagen DISEASES database for RPS6KA6:
    X-linked nonsyndromic deafness     Coffin-Lowry syndrome     Choroideremia
    Human Genome Epidemiology (HuGE) Navigator: RPS6KA6 (2 documents)

    Export disorders for RPS6KA6 gene to outside databases

    Publications
    for RPS6KA6 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RPS6KA6 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with RPS6KA6)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. (PubMed id 10644430)1, 2, 3, 9 Yntema H.G.... van Bokhoven H. (1999)
    2. Functional characterization of human RSK4, a new 90-kDa ribosomal S6 kinase, reveals constitutive activation in most cell types. (PubMed id 15632195)1, 2, 9 Dummler B.A....Frodin M. (2005)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    4. A large-scale RNAi screen in human cells identifies new components of the p53 pathway. (PubMed id 15042092)1, 2 Berns K....Bernards R. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. PRKX, TTBK2 and RSK4 expression causes Sunitinib resis tance in kidney carcinoma- and melanoma-cell lines. (PubMed id 22020623)1 Bender C. and Ullrich A. (2012)
    8. The possible role of ribosomal protein S6 kinase 4 in the senescence of endothelial progenitor cells in diabetes mellitus. (PubMed id 22297070)1 Yin Z....Wang Z. (2012)
    9. [Abnormal expression of RSK-4 and its clinical signifi cance in breast cancer]. (PubMed id 21875487)1 Liu J.L....Jiang Y. (2011)
    10. Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (AS D). (PubMed id 21384559)1 KantojAorvi K....JAorvelAo I. (2011)

    External Searches for RPS6KA6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RPS6KA6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27330 HGNC: 10435 AceView: RPS6KA6 Ensembl:ENSG00000072133 euGenes: HUgn27330
    ECgene: RPS6KA6 Kegg: 27330 H-InvDB: RPS6KA6

    Other Databases showing RPS6KA6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RPS6KA6 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RPS6KA6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for RPS6KA6 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for RPS6KA6 gene:
    Search GeneIP for patents involving RPS6KA6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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