Gene
ATXN7L3
ataxin 7 like 3
- HGNC 25416↗(opens in a new tab)
- Ensembl gene ENSG00000087152↗(opens in a new tab)
- NCBI Gene 56970↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.31
- Coordinates
- Chromosome 17: 44,191,805–44,199,884 (GRCh38)
- Exons
- 13 exons across 8.1 kb
- Protein
- 347 amino acids
- Also known as
- DKFZp761G2113
- MANE Select transcript
- ENST00000587097.6NM_001382309.1
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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No Genome Test report reads ATXN7L3 yet. The test sequences your whole genome, so your data includes it all the same.
How ATXN7L3 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 4 kb of the gene's 8.1 kb; 1,044 of those bases code for the protein.
How a genome test reads ATXN7L3
1
position in ATXN7L3 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 8.1 kb of ATXN7L3, introns included, not only the 4 kb of exons.
Traits linked to ATXN7L3
The Human Phenotype Ontology lists these as features of the rare conditions ATXN7L3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Drooling
- Flat face
- Low frontal hairline
- Oval face
- Small head present at birth
- Downturned corners of mouth
- Eye folds
- Highly arched eyebrow
Show 22 more traits
- Narrow mouth
- Abnormally small head
- Dental crowding
- Drooping lower lip
- Hooded eyelid
- Long eyelashes
- Long philtrum
- Medial flaring of the eyebrow
- Midface retrusion
- Narrow eyelid opening
- Narrow opening between the eyelids
- Narrow palate
- Nasal tip, upturned
- Prominent nasal tip
- Receding chin
- Short nose
- Short philtrum
- Smooth philtrum
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Wide nasal base
- Widely spaced teeth
Abnormality of the nervous system
- Abnormality of balance
- Ataxia
- Communication delay
- Delayed ability to walk
- Inability to walk
- Increased reflexes
- IQ between 34 and 49
- IQ less than 20
Show 16 more traits
- Obstructive sleep apnea
- Pain insensitivity
- Poor eye contact
- Repetitive movements
- Severe global developmental delay
- Delayed speech and language development
- Global developmental delay
- Abnormal gait
- Attention deficit
- Intellectual disability
- Motor delay
- Cerebellar vermis atrophy
- Delayed CNS myelination
- Epilepsy
- Lateral ventricular asymmetry
- Periventricular leukomalacia
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.). ATXN7L3 gene: ataxin 7 like 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/atxn7l3
Dante Labs. ATXN7L3 gene: ataxin 7 like 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atxn7l3
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