RPS6KA3 Chromosome X
Ribosomal protein S6 kinase A3
Upload your DNA to see your personal genotypes for variants in RPS6KA3.
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 |
|---|---|---|---|
| RS1040089025 | Health Risk | Conflicting classifications of pathogenicity | Hirsutism, Motor delay, Coffin-Lowry syndrome |
| RS1057518853 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, Coffin-Lowry syndrome, Global developmental delay |
| RS1187541060 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 19 |
| RS1327104134 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS1429116502 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS1555943503 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Coffin-Lowry syndrome, Intellectual disability |
| RS1555950495 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS1603425338 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Lowry syndrome, Inborn genetic diseases, Coffin-Lowry syndrome |
| RS2148643592 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS748680802 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS755566588 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 19 |
| RS756013694 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS762253691 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS937495958 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS1057517947 | Health Risk | Likely pathogenic | — |
| RS1057518020 | Health Risk | Likely pathogenic | — |
| RS1057518914 | Health Risk | Likely pathogenic | 14 conditions, 14 conditions |
| RS1057523854 | Health Risk | Likely pathogenic | — |
| RS1057524393 | Health Risk | Likely pathogenic | — |
| RS1064793356 | Health Risk | Likely pathogenic | — |
| RS1064795003 | Health Risk | Likely pathogenic | — |
| RS1160828151 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS122454127 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1325953089 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1555924704 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1555927532 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1555939456 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS1555939921 | Health Risk | Likely pathogenic | — |
| RS1569216119 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS2067342745 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2067475470 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2067699201 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2067702700 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 19, Intellectual disability |
| RS2148649846 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2148653302 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148664069 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148665223 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2148688172 | Health Risk | Likely pathogenic | — |
| RS2148701796 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 19, Intellectual disability |
| RS2148701829 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Thyroid cancer, nonmedullary |
| RS2148721833 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 19, Intellectual disability |
| RS2148721855 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2148732123 | Health Risk | Likely pathogenic | — |
| RS2519572888 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519573579 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2519625038 | Health Risk | Likely pathogenic | RPS6KA3-related disorder, RPS6KA3-related disorder |
| RS2519625438 | Health Risk | Likely pathogenic | RPS6KA3-related disorder, RPS6KA3-related disorder |
| RS2519686615 | Health Risk | Likely pathogenic | — |
| RS2519725491 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2519762863 | Health Risk | Likely pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |