Gene
ATP9A
ATPase phospholipid transporting 9A
- HGNC 13540↗(opens in a new tab)
- Ensembl gene ENSG00000054793↗(opens in a new tab)
- NCBI Gene 10079↗(opens in a new tab)
Summary
- Cytogenetic location
- 20q13.2
- Coordinates
- Chromosome 20: 51,596,514–51,768,390 (GRCh38)
- Exons
- 28 exons across 171.9 kb
- Protein
- 1,047 amino acids
- Also known as
- KIAA0611, ATPIIA
- MANE Select transcript
- ENST00000338821.6NM_006045.3
- 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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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads ATP9A yet. The test sequences your whole genome, so your data includes it all the same.
How ATP9A 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 7.9 kb of the gene's 171.9 kb; 3,144 of those bases code for the protein.
How a genome test reads ATP9A
4
positions in ATP9A 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 171.9 kb of ATP9A, introns included, not only the 7.9 kb of exons.
Traits linked to ATP9A
The Human Phenotype Ontology lists these as features of the rare conditions ATP9A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Aggressive behavior
- Attention deficit
- Delayed speech and language development
- Incoordination
- Motor delay
- Poor fine motor coordination
- Receptive language delay
Show 13 more traits
- Repetitive movements
- Short attention span
- Difficulty sleeping
- Autism spectrum disorder
- Cerebellar vermis hypoplasia
- Delayed CNS myelination
- Depression
- Emotional discomfort
- Epilepsy
- Intellectual disability, mild
- Intellectual disability, severe
- More active than typical
- Underdevelopment of part of brain called corpus callosum
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.). ATP9A gene: ATPase phospholipid transporting 9A. Retrieved 17 October 2026, from https://dantelabs.com/genes/atp9a
Dante Labs. ATP9A gene: ATPase phospholipid transporting 9A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atp9a
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