RPS6KB2 Gene (Protein Coding)

Ribosomal Protein S6 Kinase B2

GC11P067428
GIFtS:
47
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015] See more...

Aliases for RPS6KB2 Gene

Aliases for RPS6KB2 Gene

  • Ribosomal Protein S6 Kinase B2 2 3 5
  • STK14B 2 3 4
  • 70 KDa Ribosomal Protein S6 Kinase 2 3 4
  • Serine/Threonine-Protein Kinase 14B 3 4
  • Ribosomal Protein S6 Kinase Beta-2 3 4
  • P70 Ribosomal S6 Kinase Beta 3 4
  • S6 Kinase-Related Kinase 3 4
  • P70 S6 Kinase Beta 3 4
  • P70 S6K-Beta 3 4
  • EC 2.7.11.1 4 50
  • S6K-Beta-2 3 4
  • P70-S6K 2 3 4
  • P70-Beta 3 4
  • S6K-Beta 3 4
  • P70 S6KB 3 4
  • S6Kbeta 2 3
  • P70S6Kb 2 3
  • P70S6K2 3 4
  • S6K2 3 4
  • S6KB 2 3
  • KLS 2 3
  • SRK 3 4
  • Ribosomal Protein S6 Kinase, 70kDa, Polypeptide 2 3
  • Ribosomal Protein S6 Kinase, 70kD, Polypeptide 2 2
  • Serine/Threonine-Protein Kinase 14 Beta 3
  • P70(S6K)-Beta 3
  • P70-Beta-1 3
  • P70-Beta-2 3
  • S6K-Beta2 3
  • EC 2.7.11 50
  • P70-BETA 2
  • S6KI(2) 3
  • RPS6KB2 5
  • S6Kβ 2

External Ids for RPS6KB2 Gene

Previous GeneCards Identifiers for RPS6KB2 Gene

  • GC11P069692
  • GC11P068892
  • GC11P067445
  • GC11P066971
  • GC11P066932
  • GC11P066952
  • GC11P067195
  • GC11P063523

Summaries for RPS6KB2 Gene

Entrez Gene Summary for RPS6KB2 Gene

  • This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]

GeneCards Summary for RPS6KB2 Gene

RPS6KB2 (Ribosomal Protein S6 Kinase B2) is a Protein Coding gene. Diseases associated with RPS6KB2 include Progressive Myoclonus Epilepsy 7 and Coffin-Lowry Syndrome. Among its related pathways are RET signaling and Apelin signaling pathway. Gene Ontology (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 RPS6KB1.

UniProtKB/Swiss-Prot Summary for RPS6KB2 Gene

  • Phosphorylates specifically ribosomal protein S6 (PubMed:29750193). Seems to act downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression in an alternative pathway regulated by MEAK7 (PubMed:29750193).

Gene Wiki entry for RPS6KB2 Gene

Additional gene information for RPS6KB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPS6KB2 Gene

Genomics for RPS6KB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RPS6KB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPS6KB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPS6KB2

Top Transcription factor binding sites by QIAGEN in the RPS6KB2 gene promoter:
  • Bach2
  • c-Myc
  • CREB
  • deltaCREB
  • GATA-2
  • HEN1
  • Max
  • p53
  • Sox9

Genomic Locations for RPS6KB2 Gene

Latest Assembly
chr11:67,428,460-67,435,408
(GRCh38/hg38)
Size:
6,949 bases
Orientation:
Plus strand

Previous Assembly
chr11:67,195,965-67,202,872
(GRCh37/hg19 by Entrez Gene)
Size:
6,908 bases
Orientation:
Plus strand

chr11:67,195,931-67,202,872
(GRCh37/hg19 by Ensembl)
Size:
6,942 bases
Orientation:
Plus strand

Genomic View for RPS6KB2 Gene

Genes around RPS6KB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS6KB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS6KB2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RPS6KB2 Gene

Proteins for RPS6KB2 Gene

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  • Protein details for RPS6KB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBS0-KS6B2_HUMAN
    Recommended name:
    Ribosomal protein S6 kinase beta-2
    Protein Accession:
    Q9UBS0
    Secondary Accessions:
    • B2RMZ9
    • B4DML8
    • O94809
    • Q9UEC1

    Protein attributes for RPS6KB2 Gene

    Size:
    482 amino acids
    Molecular mass:
    53455 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA34402.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for RPS6KB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPS6KB2 Gene

Protein Expression for RPS6KB2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for RPS6KB2 Gene

Q9UBS0:
  • YMAPEIL
  • GIIYRDLK
  • SEEDVSQ
  • LQSEEDVSQFD
  • KLTDFGLCKESIH
  • YAFQTGGKLYLILE
  • GGELFTHL
  • IKLTDFG
  • FLGFTYVAPSVL
  • FCGTIEYMAP
  • GHNRAVDWWSLGALMYDMLTG
  • KGGYGKVF
  • EDTACFYLAEI
  • LGKGGYG
  • KLTDFGL
  • AKDTAHT
  • RDLKPEN
  • FTRQTPVDSPDD
  • GHIKLTD
  • DFGLCKE

Post-translational modifications for RPS6KB2 Gene

  • Phosphorylated and activated by MTOR. Phosphorylation by PKC within the NLS in response to mitogenic stimuli causes cytoplasmic retention.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPS6KB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Domains & Families for RPS6KB2 Gene

Gene Families for RPS6KB2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for RPS6KB2 Gene

InterPro:
Blocks:
  • Protein kinase C-terminal domain

Suggested Antigen Peptide Sequences for RPS6KB2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58914, highly similar to Ribosomal protein S6 kinase beta-2 (EC 2.7.11.1) (B4DML8_HUMAN)
  • p70 ribosomal S6 kinase beta (KS6B2_HUMAN)
  • Ribosomal protein S6 kinase, 70kDa, polypeptide 2 (Q9BRS0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBS0

UniProtKB/Swiss-Prot:

KS6B2_HUMAN :
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily.
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 RPS6KB2: view

Function for RPS6KB2 Gene

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  6. Cell Lines for research

Molecular function for RPS6KB2 Gene

UniProtKB/Swiss-Prot Function:
Phosphorylates specifically ribosomal protein S6 (PubMed:29750193). Seems to act downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression in an alternative pathway regulated by MEAK7 (PubMed:29750193).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
GENATLAS Biochemistry:
ribosomal protein S6 kinase,70kDa,polypeptide 2,widely expressed,not involved in vivo in the phosphorylation of RPS6,mediating protein synthesis initiation and elongation induced by hormones or growth factors,maybe playing an essential regulatory role in protein synthesis during cell proliferation

Enzyme Numbers (IUBMB) for RPS6KB2 Gene

Phenotypes From GWAS Catalog for RPS6KB2 Gene

Gene Ontology (GO) - Molecular Function for RPS6KB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA,TAS 9804755
GO:0004674 protein serine/threonine kinase activity TAS,IBA 21873635
GO:0004711 ribosomal protein S6 kinase activity IBA 21873635
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with RPS6KB2: view
genes like me logo Genes that share phenotypes with RPS6KB2: view

Animal Models for RPS6KB2 Gene

MGI Knock Outs for RPS6KB2:

Animal Models for research

  • Taconic Biosciences Mouse Models for RPS6KB2

miRNA for RPS6KB2 Gene

miRTarBase miRNAs that target RPS6KB2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS6KB2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RPS6KB2 Gene

Localization for RPS6KB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPS6KB2 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPS6KB2 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPS6KB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with RPS6KB2: view

Pathways & Interactions for RPS6KB2 Gene

genes like me logo Genes that share pathways with RPS6KB2: view

Pathways by source for RPS6KB2 Gene

8 GeneGo (Thomson Reuters) pathways for RPS6KB2 Gene
  • Apoptosis and survival BAD phosphorylation
  • Development CNTF receptor signaling
  • Development Endothelin-1/EDNRA transactivation of EGFR
  • Regulation of lipid metabolism Insulin signaling-generic cascades
  • Transcription Receptor-mediated HIF regulation
2 Qiagen pathways for RPS6KB2 Gene
  • 14-3-3 Induced Intracellular Signaling
  • FLT3 Signaling
2 Cell Signaling Technology pathways for RPS6KB2 Gene

SIGNOR curated interactions for RPS6KB2 Gene

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

Gene Ontology (GO) - Biological Process for RPS6KB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS 9804755
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction TAS 9804755
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation IBA 21873635
genes like me logo Genes that share ontologies with RPS6KB2: view

Drugs & Compounds for RPS6KB2 Gene

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(9) Drugs for RPS6KB2 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra 0
BI-D1870 Pharma P90 RSK inhibitor,ATP-competitive and cell-permeable 0
FMK Pharma RSK inhibitor 0
LY2584702 Pharma p70 S6 kinase inhibitor 0
PF 4708671 Pharma P70 S6K1 isoform inhibitor,cell-permeable, S6K1 inhibitor 0

(3) Additional Compounds for RPS6KB2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0

(4) ApexBio Compounds for RPS6KB2 Gene

Compound Action Cas Number
BI-D1870 P90 RSK inhibitor,ATP-competitive and cell-permeable 501437-28-1
FMK RSK inhibitor 821794-92-7
LY2584702 p70 S6 kinase inhibitor 1082949-67-4
PF-4708671 P70 S6K1 isoform inhibitor,cell-permeable 1255517-76-0
genes like me logo Genes that share compounds with RPS6KB2: view

Drug products for research

Transcripts for RPS6KB2 Gene

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mRNA/cDNA for RPS6KB2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS6KB2

Alternative Splicing Database (ASD) splice patterns (SP) for RPS6KB2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - -
SP5: -
SP6: -
SP7: -
SP8: - -
SP9: - -
SP10: - - - - -
SP11:
SP12:
SP13: - -
SP14: - - - -
SP15: - - -
SP16:
SP17: -

ExUns: 16 ^ 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for RPS6KB2 Gene

GeneLoc Exon Structure for
RPS6KB2

Expression for RPS6KB2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPS6KB2 Gene

mRNA expression in normal human tissues for RPS6KB2 Gene
mRNA expression by BioGPS for RPS6KB2 GenemRNA expression by GTEx for RPS6KB2 Gene

Protein differential expression in normal tissues from HIPED for RPS6KB2 Gene

This gene is overexpressed in Adrenal (33.6) and Placenta (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPS6KB2 Gene



Protein tissue co-expression partners for RPS6KB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPS6KB2

SOURCE GeneReport for Unigene cluster for RPS6KB2 Gene:

Hs.534345

Evidence on tissue expression from TISSUES for RPS6KB2 Gene

  • Nervous system(4.6)
  • Muscle(2.7)
  • Skin(2.6)
  • Stomach(2.5)
  • Lung(2.4)
  • Pancreas(2.3)
  • Liver(2.3)
  • Intestine(2.2)
  • Kidney(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with RPS6KB2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS6KB2 Gene

Orthologs for RPS6KB2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RPS6KB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RPS6KB2 29 30
  • 99.58 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RPS6KB2 29 30
  • 90.35 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia RPS6KB2 29 30
  • 89.9 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rps6kb2 29 16 30
  • 88.38 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rps6kb2 29
  • 88.31 (n)
Oppossum
(Monodelphis domestica)
 Mammalia RPS6KB2 30
  • 87 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia RPS6KB2 30
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves RPS6KB2 30
  • 90 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RPS6KB2 30
  • 76 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta S6k 30 31
  • 59 (a)
 OneToMany
Pk17E 31
  • 36 (a)
Worm
(Caenorhabditis elegans)
 Secernentea Y47D3A.16 31
  • 57 (a)
R04A9.5 31
  • 51 (a)
rsks-1 30
  • 46 (a)
 OneToMany
F28C10.3 31
  • 34 (a)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADL389W 29
  • 54.98 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SCH9 29 30
  • 52.72 (n)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B03586g 29
  • 50.31 (n)
Species where no ortholog for RPS6KB2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • 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)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for RPS6KB2 Gene

ENSEMBL:
Gene Tree for RPS6KB2 (if available)
TreeFam:
Gene Tree for RPS6KB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPS6KB2: view image
Alliance of Genome Resources:
Additional Orthologs for RPS6KB2

Paralogs for RPS6KB2 Gene

Paralogs for RPS6KB2 Gene

(65) SIMAP similar genes for RPS6KB2 Gene using alignment to 7 proteins:

  • KS6B2_HUMAN
  • B4DML8_HUMAN
  • E9PIP7_HUMAN
  • E9PQF6_HUMAN
  • G3V2F1_HUMAN
  • Q9BRS0_HUMAN
  • R4GN47_HUMAN
genes like me logo Genes that share paralogs with RPS6KB2: view

Variants for RPS6KB2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPS6KB2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs374535834 An ovarian mucinous carcinoma sample p.Thr443Met
rs13859 -- p.Ala420Val
rs55642995 -- p.Val368Met
rs55987642 -- p.Pro267Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RPS6KB2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RPS6KB2 Gene

Variant ID Type Subtype PubMed ID
dgv1977n54 CNV loss 21841781
dgv52n111 CNV deletion 26073780
nsv468604 CNV loss 19166990
nsv521723 CNV loss 19592680
nsv524096 CNV loss 19592680

Variation tolerance for RPS6KB2 Gene

Residual Variation Intolerance Score: 43.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.07; 93.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPS6KB2 Gene

Human Gene Mutation Database (HGMD)
RPS6KB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS6KB2
Leiden Open Variation Database (LOVD)
RPS6KB2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS6KB2 Gene

Disorders for RPS6KB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RPS6KB2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
progressive myoclonus epilepsy 7
  • epm7
coffin-lowry syndrome
  • cls
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RPS6KB2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RPS6KB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPS6KB2 Gene

Publications for RPS6KB2 Gene

  1. Molecular cloning and characterization of a novel p70 S6 kinase, p70 S6 kinase beta containing a proline-rich region. (PMID: 9804755) Gout I … Yonezawa K (The Journal of biological chemistry 1998) 2 3 4 22
  2. Regulation of ribosomal S6 kinase 2 by mammalian target of rapamycin. (PMID: 12087098) Park IH … Chen J (The Journal of biological chemistry 2002) 3 4 22
  3. Characterization of S6K2, a novel kinase homologous to S6K1. (PMID: 10490847) Lee-Fruman KK … Blenis J (Oncogene 1999) 3 4 22
  4. Cloning and characterization of p70(S6K beta) defines a novel family of p70 S6 kinases. (PMID: 9878560) Saitoh M … Ichijo H (Biochemical and biophysical research communications 1998) 2 3 4
  5. Mammalian EAK-7 activates alternative mTOR signaling to regulate cell proliferation and migration. (PMID: 29750193) Nguyen JT … Krebsbach PH (Science advances 2018) 3 4

ExternalLinks

View latest publications for RPS6KB2 gene in Mastermind

Products for RPS6KB2 Gene

Sources for RPS6KB2 Gene