Gene
RTTN
rotatin
- HGNC 18654↗(opens in a new tab)
- Ensembl gene ENSG00000176225↗(opens in a new tab)
- NCBI Gene 25914↗(opens in a new tab)
Summary
- Cytogenetic location
- 18q22.2
- Coordinates
- Chromosome 18: 70,003,031–70,205,687 (GRCh38)
- Exons
- 49 exons across 202.7 kb
- Protein
- 2,226 amino acids
- Also known as
- DKFZP434G145
- MANE Select transcript
- ENST00000640769.2NM_173630.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads RTTN yet. The test sequences your whole genome, so your data includes it all the same.
How RTTN 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 7.8 kb of the gene's 202.7 kb; 6,681 of those bases code for the protein.
How a genome test reads RTTN
28
positions in RTTN 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 202.7 kb of RTTN, introns included, not only the 7.8 kb of exons.
Traits linked to RTTN
The Human Phenotype Ontology lists these as features of the rare conditions RTTN can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal pyramidal sign
- EEG abnormality
- Epilepsy
- Degeneration of cerebellum
- Difficulty articulating speech
- Intellectual disability, severe
- More grooves in brain
- Poor speech
Show 25 more traits
- Severe global developmental delay
- Ventriculomegaly
- Abnormal periventricular white matter morphology
- Agenesis of corpus callosum
- Cortical dysplasia
- Degeneration of cerebrum
- Difficulty sleeping
- Dysplastic corpus callosum
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Hyperactive movements
- Hypoplasia of the pons
- Lobar holoprosencephaly
- Olivopontocerebellar hypoplasia
- Periventricular heterotopia
- Repetitive movements
- Self-injurious behavior
- Simplified gyral pattern
- Small cerebellum
- Small cerebrum
- Underdeveloped frontal lobe
- Underdevelopment of part of brain called corpus callosum
- Delayed speech and language development
- IQ between 34 and 49
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.
- 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 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RTTN gene: rotatin. Retrieved 17 October 2026, from https://dantelabs.com/genes/rttn
Dante Labs. RTTN gene: rotatin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rttn
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