Gene Gene information from NCBI Gene database.
Entrez ID 6197
Gene name Ribosomal protein S6 kinase A3
Gene symbol RPS6KA3
Synonyms (NCBI Gene)
CLSHU-3ISPK-1MAPKAPK1BMRX19RSKRSK2S6K-alpha3XLID19p90-RSK2pp90RSK2
Chromosome X
Chromosome location Xp22.12
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) s
SNPs SNP information provided by dbSNP.
65
SNP ID Visualize variation Clinical significance Consequence
rs28935171 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs122454124 C>A Pathogenic Coding sequence variant, missense variant
rs122454125 A>C Pathogenic Coding sequence variant, missense variant
rs122454126 C>A,T Pathogenic Coding sequence variant, missense variant
rs122454127 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1051
miRTarBase ID miRNA Experiments Reference
MIRT030861 hsa-miR-21-5p Microarray 18591254
MIRT031564 hsa-miR-16-5p Microarray 21199864
MIRT049971 hsa-miR-29a-3p CLASH 23622248
MIRT044599 hsa-miR-320a CLASH 23622248
MIRT041136 hsa-miR-503-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NR3C1 Activation 11705993
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0001501 Process Skeletal system development TAS 8955270
GO:0002224 Process Toll-like receptor signaling pathway IEA
GO:0002224 Process Toll-like receptor signaling pathway ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300075 10432 ENSG00000177189
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51812
Protein name Ribosomal protein S6 kinase alpha-3 (S6K-alpha-3) (EC 2.7.11.1) (90 kDa ribosomal protein S6 kinase 3) (p90-RSK 3) (p90RSK3) (Insulin-stimulated protein kinase 1) (ISPK-1) (MAP kinase-activated protein kinase 1b) (MAPK-activated protein kinase 1b) (MAPKAP
Protein 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 R
PDB 4D9T , 4D9U , 4JG6 , 4JG7 , 4JG8 , 4NUS , 4NW5 , 4NW6 , 5D9K , 5D9L , 7OPO , 8EQ5 , 8R58 , 8XEY , 8XFY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 68 327 Protein kinase domain Domain
PF00433 Pkinase_C 350 387 Protein kinase C terminal domain Family
PF00069 Pkinase 422 679 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues, highest levels in skeletal muscle.
Sequence
Sequence length 740
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Oocyte meiosis
mTOR signaling pathway
Thermogenesis
Long-term potentiation
Neurotrophin signaling pathway
Progesterone-mediated oocyte maturation
Insulin resistance
Yersinia infection
Chemical carcinogenesis - receptor activation
  ERK/MAPK targets
CREB phosphorylation
Senescence-Associated Secretory Phenotype (SASP)
CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling
RSK activation
Gastrin-CREB signalling pathway via PKC and MAPK
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Coffin-Lowry syndrome Likely pathogenic; Pathogenic rs398124177, rs2148701884, rs2148721944, rs2148662359, rs2148653302, rs2148701829, rs2148686736, rs2148664069, rs2148649846, rs2148622591, rs2148686409, rs2148686334, rs2148721928, rs2519573579, rs2519686958
View all (58 more)
RCV000760975
RCV001376010
RCV001387622
RCV001788499
RCV001528143
View all (68 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs28935171, rs1555943484, rs2067699201 RCV001257622
RCV001257663
RCV001257664
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 19 Pathogenic; Likely pathogenic rs2148721944, rs1555939456, rs2148721833, rs2148649846, rs2148622591, rs2148686409, rs2148686334, rs2148643497, rs2148701796, rs2519686958, rs2519573317, rs2519725480, rs797045920, rs2519612941, rs2519732229
View all (21 more)
RCV001387622
RCV001809137
RCV001843741
RCV001976344
RCV002014963
View all (31 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma Pathogenic; Likely pathogenic rs2519568342, rs28935171 RCV005930773
RCV005887452
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BONE DISEASES, DEVELOPMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLINODACTYLY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia LHGDN 12562765
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 10528858 Associate
★☆☆☆☆
Found in Text Mining only
bilateral breast cancer Breast Cancer BEFREE 26554380
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Diseases, Developmental Bone Disease CTD_human_DG 8955270
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bone neoplasms Bone neoplasms BEFREE 30361264
★☆☆☆☆
Found in Text Mining only