Gene
ATAD3A
ATPase family AAA domain containing 3A
- HGNC 25567(opens in a new tab)
- Ensembl gene ENSG00000197785(opens in a new tab)
- NCBI Gene 55210(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.33
- Coordinates
- Chromosome 1: 1,512,162–1,534,685 (GRCh38)
- Exons
- 16 exons across 22.5 kb
- Protein
- 586 amino acids
- Also known as
- FLJ10709
- MANE Select transcript
- ENST00000378756.8NM_001170535.3
- 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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No Genome Test report reads ATAD3A yet. The test sequences your whole genome, so your data includes it all the same.
How ATAD3A 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 2.5 kb of the gene's 22.5 kb; 1,761 of those bases code for the protein.
How a genome test reads ATAD3A
16
positions in ATAD3A where ClinVar classes a change as pathogenic or likely pathogenic
16 of them (100%) fall in regions short reads find hard.
- Low mappability (10 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (16 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 22.5 kb of ATAD3A, introns included, not only the 2.5 kb of exons.
Traits linked to ATAD3A
The Human Phenotype Ontology lists these as features of the rare conditions ATAD3A can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Big lower jaw
- Frontal bossing
- High forehead
- Little lower jaw
- Long face
- Short nose
- Upward slanting of the opening between the eyelids
- Narrow mouth
Show 3 more traits
Abnormality of the eye
- Close sighted
- Inward turning cross eyed
- Optic atrophy
- Clouding of the lens of the eye
- Clouding of the lens of the eye at birth
- Corneal opacity
- Deeply set eye
- Involuntary, rapid, rhythmic eye movements
Show 1 more trait
Abnormality of the musculoskeletal system
- Involuntary muscle stiffness, contraction, or spasm
- Low muscle tone
- Low muscle tone in trunk
- Lower limb amyotrophy
- Spastic walk
- Abnormal formation of the hip
- Distal muscle wasting
- Pigeon chest
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.
- 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.). ATAD3A gene: ATPase family AAA domain containing 3A. Retrieved 17 October 2026, from https://dantelabs.com/genes/atad3a
Dante Labs. ATAD3A gene: ATPase family AAA domain containing 3A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atad3a
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