RPS6KA3 Chromosome X
Ribosomal protein S6 kinase A3
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What This Gene Does
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]
Gene Info
Gene Group
"MAPK activated protein kinases|Ribosomal protein S6 kinase family"
Locus Type
gene with protein product
Location
Xp22.12
Ensembl
ENSG00000177189
Associated Conditions (16)
Hirsutism
Motor delay
Coffin-Lowry syndrome
Intellectual disability
X-linked 19
Global developmental delay
Inborn genetic diseases
RPS6KA3-related disorder
Ovarian serous cystadenocarcinoma
14 conditions
See cases
Thyroid cancer
nonmedullary
1
7 conditions
Nonpapillary renal cell carcinoma
Key Variants
RS1040089025
Conflicting classifications of pathogenicity
Hirsutism, Motor delay, Coffin-Lowry syndrome
Health Risk
RS1057518853
Conflicting classifications of pathogenicity
Global developmental delay, Coffin-Lowry syndrome, Global developmental delay
Health Risk
RS1187541060
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked 19
Health Risk
RS1327104134
Conflicting classifications of pathogenicity
Coffin-Lowry syndrome, Intellectual disability, X-linked 19
Health Risk
RS1429116502
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 19, Coffin-Lowry syndrome
Health Risk
RS1555943503
Conflicting classifications of pathogenicity
Inborn genetic diseases, Coffin-Lowry syndrome, Intellectual disability
Health Risk
RS1555950495
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 19, Coffin-Lowry syndrome
Health Risk
RS1603425338
Conflicting classifications of pathogenicity
Coffin-Lowry syndrome, Inborn genetic diseases, Coffin-Lowry syndrome
Health Risk
RS2148643592
Conflicting classifications of pathogenicity
Coffin-Lowry syndrome, Intellectual disability, X-linked 19
Health Risk
RS748680802
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 19, Coffin-Lowry syndrome
Health Risk
RS755566588
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked 19
Health Risk
RS756013694
Conflicting classifications of pathogenicity
Coffin-Lowry syndrome, Intellectual disability, X-linked 19
Health Risk
All Variants (137)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148701884 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148721928 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148721944 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS2519568342 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Thyroid cancer, nonmedullary |
| RS2519572758 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2519573317 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2519604922 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519612941 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2519625017 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2519625088 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519639584 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2519639907 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2519640130 | Health Risk | Pathogenic | RPS6KA3-related disorder, Coffin-Lowry syndrome, RPS6KA3-related disorder |
| RS2519683509 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2519725480 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2519732229 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2519732291 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2519735957 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2519759849 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2519798151 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS387906703 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Intellectual disability |
| RS398122813 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Intellectual disability |
| RS398124175 | Health Risk | Pathogenic | — |
| RS398124177 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Inborn genetic diseases, Coffin-Lowry syndrome |
| RS398124178 | Health Risk | Pathogenic | — |
| RS587776755 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS797045920 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Intellectual disability |
| RS869320705 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS886041328 | Health Risk | Pathogenic | — |
| RS886041330 | Health Risk | Pathogenic | — |
| RS886041331 | Health Risk | Pathogenic | — |
| RS886043293 | Health Risk | Pathogenic | — |
| RS1555924331 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS1569194162 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2068650679 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2519686958 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS28935171 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Lowry syndrome, Intellectual disability, Inborn genetic diseases |