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Rps6ka3 Gene Detail
Summary
  • Symbol
    Rps6ka3
  • Name
    ribosomal protein S6 kinase polypeptide 3
  • Synonyms
    Rsk2
  • Feature Type
    protein coding gene
  • IDs
    MGI:104557
    NCBI Gene: 110651
  • Gene Overview
    MyGene.info: RPS6KA3
Location & Maps
more
  • Sequence Map
    ChrX:159210307-159368244 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      157938 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    RPS6KA3, ribosomal protein S6 kinase A3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RPS6KA3, ribosomal protein S6 kinase A3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CLS, HU-3, ISPK-1, MAPKAPK1B, MRX19, p90-RSK2, pp90RSK2, RSK, RSK2, S6K-alpha3
  • Links
    NCBI Gene ID: 6197
    neXtProt AC: NX_P51812

  • Chr Location
    Xp22.2-p22.1; chrX:20149911-20267095 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Rps6ka3 mouse models; 2 with human RPS6KA3 associations

Human Disease Mouse Models
       Coffin-Lowry Syndrome; CLS   OMIM: 303600 View 5 models
       Mental Retardation, X-Linked 19; MRX19   OMIM: 300844
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    57 phenotypes from 2 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Gene trapped
    8
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Rps6ka3
  • Incidental Mutations
Homozygotes/hemizygotes are a model for Coffin-Lowry Syndrome. One allele shows impaired osteoblast function with reduced long and craniofacial bones. Another allele shows infertility, lipodystrophy, impaired glycogen, glucose, and insulin metabolism, and impaired memory and coordination.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016505 VEGA Gene Model | MGI Sequence Detail 157938 C57BL/6J ±  kb
transcript OTTMUST00000039877 VEGA | MGI Sequence Detail 7244 Not Applicable  
polypeptide OTTMUSP00000017786 VEGA | MGI Sequence Detail 740 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    442 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 17
    Genomic 1
    cDNA 15
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-25991
References
more
  • Summaries
    All 57
    Developmental Gene Expression 7
    Diseases 5
    Gene Ontology 6
    Phenotypes 25
  • Earliest
    J:10010 Alcorta DA, et al., Sequence and expression of chicken and mouse rsk: homologs of Xenopus laevis ribosomal S6 kinase. Mol Cell Biol. 1989 Sep;9(9):3850-9
  • Latest
    J:211945 Laugel-Haushalter V, et al., RSK2 is a modulator of craniofacial development. PLoS One. 2014;9(1):e84343

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory