Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
ABC-C,ABC3,EST111653,LBM180,SMDP3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 21
MIM: 601615
HGNC: 33
Ensembl: ENSG00000167972
Variants:
dbSNP: 21
ClinVar: 21
TCGA: ENSG00000167972
COSMIC: ABCA3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000167972 | ENST00000301732 | Q99758 |
| ENSG00000167972 | ENST00000382381 | H0Y3H2 |
| ENSG00000167972 | ENST00000567910 | Q99758 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37657992 | 2024 | Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury. | 0 |
| 38226623 | 2024 | Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations. | 1 |
| 38345107 | 2024 | Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults. | 0 |
| 38541145 | 2024 | Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome-A Pilot Study. | 0 |
| 37657992 | 2024 | Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury. | 0 |
| 38226623 | 2024 | Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations. | 1 |
| 38345107 | 2024 | Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults. | 0 |
| 38541145 | 2024 | Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome-A Pilot Study. | 0 |
| 36324278 | 2023 | Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants. | 0 |
| 36808083 | 2023 | ABCA3-related interstitial lung disease beyond infancy. | 8 |
| 37175887 | 2023 | ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine. | 3 |
| 38019257 | 2023 | Increased Expression of the ABCA1 and ABCA3 Transporter Genes is Associated with Cisplatin Resistance in Breast Cancer Cells. | 1 |
| 36324278 | 2023 | Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants. | 0 |
| 36808083 | 2023 | ABCA3-related interstitial lung disease beyond infancy. | 8 |
| 37175887 | 2023 | ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine. | 3 |
Citation
Dessen P
ABCA3 (ATP binding cassette subfamily A member 3)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45536/abca3-(atp-binding-cassette-subfamily-a-member-3)
