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 |
|---|---|---|---|
| RS2519814938 | Health Risk | Likely pathogenic | RPS6KA3-related disorder, RPS6KA3-related disorder |
| RS2519910438 | Health Risk | Likely pathogenic | — |
| RS1057520540 | Health Risk | Pathogenic | — |
| RS1057524314 | Health Risk | Pathogenic | — |
| RS1064793597 | Health Risk | Pathogenic | — |
| RS1064796008 | Health Risk | Pathogenic | — |
| RS1085307639 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS122454124 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS122454125 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS122454126 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Thyroid cancer, nonmedullary |
| RS122454128 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS122454129 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Intellectual disability |
| RS122454130 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS122454131 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1555927554 | Health Risk | Pathogenic | Inborn genetic diseases, Coffin-Lowry syndrome, Intellectual disability |
| RS1555928716 | Health Risk | Pathogenic | 7 conditions, Inborn genetic diseases, 7 conditions |
| RS1555928736 | Health Risk | Pathogenic | — |
| RS1555939331 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Inborn genetic diseases, Coffin-Lowry syndrome |
| RS1555939377 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555942692 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS1555943479 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS1555943484 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, Coffin-Lowry syndrome |
| RS1555943492 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1569190602 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS1603417191 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603417213 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603417440 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS1603420690 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603422403 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603422409 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS1603425345 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS1603425362 | Health Risk | Pathogenic | — |
| RS1603426293 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603426295 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS1603426296 | Health Risk | Pathogenic | — |
| RS1603428228 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Thyroid cancer, nonmedullary |
| RS2067184984 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2067343280 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS2067399344 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2067980233 | Health Risk | Pathogenic | — |
| RS2068213764 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2148622591 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2148643497 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Intellectual disability |
| RS2148649878 | Health Risk | Pathogenic | — |
| RS2148662354 | Health Risk | Pathogenic | — |
| RS2148662359 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148664125 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |
| RS2148686334 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 |
| RS2148686409 | Health Risk | Pathogenic | Intellectual disability, X-linked 19, Coffin-Lowry syndrome |
| RS2148686736 | Health Risk | Pathogenic | Coffin-Lowry syndrome, Coffin-Lowry syndrome |