Gene
ABCA3
ATP binding cassette subfamily A member 3
- HGNC 33(opens in a new tab)
- Ensembl gene ENSG00000167972(opens in a new tab)
- NCBI Gene 21(opens in a new tab)
Summary
- Cytogenetic location
- 16p13.3
- Coordinates
- Chromosome 16: 2,275,881–2,340,728 (GRCh38)
- Exons
- 33 exons across 64.8 kb
- Protein
- 1,704 amino acids
- Also known as
- ABC-C, EST111653, LBM180
- Previous symbols
- ABC3
- MANE Select transcript
- ENST00000301732.10NM_001089.3
- 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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Surfactant Metabolism Dysfunction
- Hereditary Pulmonary Alveolar Proteinosis and Surfactant Dysfunction
Inherited disorders of surfactant production or clearance, including those caused by SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB and MARS1, that range from fatal respiratory distress in newborns to interstitial lung disease in children and adults.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can support earlier diagnosis, specialist respiratory care, consideration of whole-lung lavage or transplant where appropriate, and information for family planning.
How ABCA3 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 6.6 kb of the gene's 64.8 kb; 5,115 of those bases code for the protein.
How a genome test reads ABCA3
141
positions in ABCA3 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 64.8 kb of ABCA3, introns included, not only the 6.6 kb of exons.
Traits linked to ABCA3
The Human Phenotype Ontology lists these as features of the rare conditions ABCA3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the respiratory system
- Ground-glass opacification
- Reticular pattern on pulmonary HRCT
- Abnormality in area between air sacs in lung
- Intraalveolar phospholipid accumulation
- Low blood oxygen level
- Neonatal respiratory distress
- Bronchial wall thickening
- Cough
Show 25 more traits
- Crackles
- Cystic pattern on pulmonary HRCT
- Decreased DLCO
- Desquamative interstitial pneumonitis
- Exertional breathlessness
- Honeycomb lung
- Increased respiratory rate or depth of breathing
- Nasal flaring
- Nonspecific interstitial pneumonia
- Partial or complete collapse of part or entire lung
- Permanent enlargement of the airways of the lungs
- Pulmonary scarring
- Reduced forced vital capacity
- Respiratory failure
- Subpleural honeycombing
- Usual interstitial pneumonia
- Crazy paving pattern
- Nodular pattern on pulmonary HRCT
- Orthodeoxia
- Paraseptal emphysema
- Respiratory tract infection
- Absent bronchoalveolar surfactant-protein C
- Apnea
- Breathing difficulties
- Breathing difficulty
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 2026-10-16: 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 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ABCA3 gene: ATP binding cassette subfamily A member 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/abca3
Dante Labs. ABCA3 gene: ATP binding cassette subfamily A member 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/abca3
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