Gene
RPS6KA3
ribosomal protein S6 kinase A3
- HGNC 10432↗(opens in a new tab)
- Ensembl gene ENSG00000177189↗(opens in a new tab)
- NCBI Gene 6197↗(opens in a new tab)
Summary
- Cytogenetic location
- Xp22.12
- Coordinates
- Chromosome X: 20,149,911–20,266,909 (GRCh38)
- Exons
- 22 exons across 117 kb
- Protein
- 740 amino acids
- Also known as
- RSK2, HU-3
- Previous symbols
- MRX19, CLS
- MANE Select transcript
- ENST00000379565.9NM_004586.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
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Intellectual Disability
One of 233 genes linked to it
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How RPS6KA3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8 kb of the gene's 117 kb; 2,223 of those bases code for the protein.
Sequencing RPS6KA3
83
positions in RPS6KA3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 117 kb of RPS6KA3, introns included, not only the 8 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to RPS6KA3
The Human Phenotype Ontology lists these as features of the rare conditions RPS6KA3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad columella
- Downward slanting of the opening between the eyelids
- Full lower lip
- Prominent forehead
- Short nose
- Thick nasal alae
- Thick nasal septum
- Abnormality of dental shape
Show 33 more traits
- Coarse facial features
- Depressed nasal bridge
- Drooping lower lip
- Enlargement of craniofacial bones
- Eye folds
- Failure of development of between one and six teeth
- Frontal bossing
- Nasal tip, upturned
- Open mouth
- Widely spaced teeth
- Abnormally small head
- Broad nasal tip
- Cone shaped front tooth
- Decreased size of maxilla
- Early tooth loss
- High palate
- Narrow palate
- Wide mouth
- Wide nose
- Deep central lingual groove
- Delayed eruption of teeth
- Dental crowding
- Early eruption of teeth
- Failure of development of all teeth
- Failure of development of more than six teeth
- Bad bite
- Big lower jaw
- Corners of eye widely separated
- Delayed closure of the soft spot on the skull
- Highly arched eyebrow
- Increased thickness of skull cap
- Prominent brow
- Thick eyebrow
Abnormality of the nervous system
- Global developmental delay
- Intellectual disability
- Intellectual disability, mild
- Ventriculomegaly
- Abnormal speech pattern
- Severe global developmental delay
- Abnormal gait
- Delayed speech and language development
Show 13 more traits
- Abnormality of neuronal migration
- Absent/small cerebellum
- Aplasia/Hypoplasia of the corpus callosum
- Behavioral abnormality
- Bipolar disorder
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Depression
- Epilepsy
- Motor delay
- Pauses in breathing while sleeping
- Psychosis
- Self-injurious behavior
- Sudden loss of muscle tone
Abnormality of the cardiovascular system
- Short chordae tendineae of the mitral valve
- Short chordae tendineae of the tricuspid valve
- Abnormal aortic valve morphology
- Abnormal cardiovascular system morphology
- Abnormal mitral valve morphology
- Abnormal tricuspid valve morphology
- Disease of the heart muscle
- Cutis marmorata
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). RPS6KA3 gene: ribosomal protein S6 kinase A3. Retrieved 17 October 2026, from https://dantelabs.com/genes/rps6ka3
Dante Labs. RPS6KA3 gene: ribosomal protein S6 kinase A3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rps6ka3
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