ABCA3

Summary

ABCA3 (ATP binding cassette subfamily A member 3, HGNC:33) is a protein-coding gene on chromosome 16p13.3, encoding Phospholipid-transporting ATPase ABCA3 (Q99758). Catalyzes the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar bodies biogenesis and homeostasis of pulmonary surfactant.

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.

Source: NCBI Gene 21 — RefSeq curated summary.

At a glance

• Gene–disease (curated): interstitial lung disease due to ABCA3 deficiency (Definitive, ClinGen)
• GWAS associations: 4
• Clinical variants (ClinVar): 1,923 total — 84 pathogenic, 51 likely-pathogenic
• Phenotypes (HPO): 62
• MANE Select transcript: NM_001089

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33
Approved symbol	ABCA3
Name	ATP binding cassette subfamily A member 3
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	ABC-C, EST111653, LBM180
Ensembl gene	ENSG00000167972
Ensembl biotype	protein_coding
OMIM	601615
Entrez	21

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 3 retained_intron

ENST00000301732, ENST00000382381, ENST00000563623, ENST00000566200, ENST00000567910, ENST00000569062, ENST00000883065, ENST00000937273, ENST00000937274, ENST00000967438, ENST00000967439, ENST00000967440, ENST00000967441, ENST00000967442, ENST00000967443

RefSeq mRNA: 1 — MANE Select: NM_001089 NM_001089

CCDS: CCDS10466

Canonical transcript exons

ENST00000301732 — 33 exons

Exon	Start	End
ENSE00001491999	2329648	2329854
ENSE00001594213	2289434	2289620
ENSE00001596209	2277597	2277670
ENSE00001611128	2278288	2278458
ENSE00001669440	2283186	2283358
ENSE00001675978	2284279	2284437
ENSE00001680180	2285442	2285646
ENSE00001683962	2288026	2288329
ENSE00001743140	2277879	2278069
ENSE00001798339	2286694	2286967
ENSE00001801502	2284779	2284998
ENSE00002590136	2340573	2340728
ENSE00002598890	2328453	2328757
ENSE00002603385	2275881	2276805
ENSE00003477494	2300005	2300148
ENSE00003479427	2317283	2317403
ENSE00003495375	2292140	2292238
ENSE00003517755	2278943	2279130
ENSE00003521488	2295590	2295740
ENSE00003528607	2297329	2297539
ENSE00003577265	2303969	2304150
ENSE00003590422	2281381	2281509
ENSE00003592546	2298386	2298540
ENSE00003597366	2297766	2297921
ENSE00003598225	2323523	2323688
ENSE00003600255	2281027	2281221
ENSE00003625683	2308450	2308623
ENSE00003647694	2326413	2326492
ENSE00003662391	2299403	2299532
ENSE00003662876	2324404	2324531
ENSE00003677412	2326010	2326274
ENSE00003677838	2319581	2319840
ENSE00003690360	2317648	2317764

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 98.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.5307 / max 685.2631, expressed in 1272 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155927	10.1359	1208
155928	1.4117	685
155924	0.7249	72
155925	0.6440	312
155926	0.6142	330

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lower lobe of lung	UBERON:0008949	98.23	gold quality
upper lobe of lung	UBERON:0008948	94.61	gold quality
upper lobe of left lung	UBERON:0008952	94.32	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.52	gold quality
frontal pole	UBERON:0002795	93.13	gold quality
paraflocculus	UBERON:0005351	93.03	gold quality
tendon of biceps brachii	UBERON:0008188	92.93	silver quality
cerebellar hemisphere	UBERON:0002245	92.82	gold quality
cerebellar cortex	UBERON:0002129	92.77	gold quality
cortical plate	UBERON:0005343	92.46	gold quality
lung	UBERON:0002048	92.33	gold quality
prefrontal cortex	UBERON:0000451	92.31	gold quality
right frontal lobe	UBERON:0002810	92.28	gold quality
cerebellum	UBERON:0002037	92.21	gold quality
inferior olivary complex	UBERON:0002127	91.87	gold quality
middle temporal gyrus	UBERON:0002771	91.46	gold quality
Brodmann (1909) area 10	UBERON:0013541	91.16	gold quality
frontal cortex	UBERON:0001870	91.00	gold quality
middle frontal gyrus	UBERON:0002702	90.77	gold quality
neocortex	UBERON:0001950	90.72	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.62	gold quality
cingulate cortex	UBERON:0003027	90.29	gold quality
anterior cingulate cortex	UBERON:0009835	90.26	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.24	gold quality
right lobe of thyroid gland	UBERON:0001119	90.14	gold quality
cerebellar vermis	UBERON:0004720	89.90	gold quality
primary visual cortex	UBERON:0002436	89.77	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.71	gold quality
cerebral cortex	UBERON:0000956	89.66	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.32	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-15	yes	1597.99
E-HCAD-1	yes	105.75
E-GEOD-130148	yes	15.09
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPA, FOXA2, GATA6, NFATC3, NKX2-1, SALL4, SREBF1, SREBF2, STAT3, TXK

miRNA regulators (miRDB)

43 targeting ABCA3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-7151-5P	99.37	67.82	613
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-5587-5P	99.07	68.58	838
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-6829-5P	98.86	65.12	1480

Literature-anchored findings (GeneRIF, showing 40)

• Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3 (PMID:11940594)
• Results suggest that ABCA3 shows ATPase activity, which is induced by lipids, and may be involved in the biogenesis of lamellar body-like structures. (PMID:15465012)
• ABCA3 is required for lysosomal loading of phosphatidylcholine and conversion of lysosomes to lamellar body-like structures (PMID:16415354)
• ABCA3 has a role in drug resistance in childhood acute myeloid leukemia (PMID:16857811)
• ABCA3 mutation is associated with fatal surfactant deficiency (PMID:16959783)
• ABCA17P & ABCA3 form a complex of overlapping genes at their 5’ ends. Non-coding & protein-coding ABC A-transporter RNAs are expressed. This is the 1st demonstration of expression of a pseudogene & its parent from a common overlapping human DNA region. (PMID:16968533)
• ABCA3 mutations were the basis for intractable respiratory distress syndrome in three Norwegian term infants (PMID:17429902)
• ABCA3 mediates ATP-dependent choline-phospholipids uptake into intracellular vesicles. (PMID:17574245)
• Finding of heterozygosity for ABCA3 mutations in severely affected infants with SFTPC I73T, and independent inheritance from disease-free parents supports that ABCA3 acts as a modifier gene for the phenotype associated with an SFTPC mutation. (PMID:17597647)
• In infants with a desquamative interstitial pneumonitis pattern, surfactant or ABCA3 mutations should be evaluated. (PMID:17660803)
• Dense abnormalities of lamellar bodies, characteristic of ABCA3 mutations, were seen by electron microscopy in all adequate specimens. (PMID:18024538)
• ABCA3 mutations impart increased genetic risk for newborn respiratory distress syndrome. (PMID:18317237)
• found ABC transporter A3 to be expressed consistently in acute myeloid leukemia samples. Greater expression of ABCA3 is associated with unfavorable treatment outcome, and in vitro, elevated expression induces resistance to a broad spectrum of cytostatics (PMID:18463677)
• This newborn infant had a heterozygote mutation of ABCA3. (PMID:18603241)
• Mutations in the ABCA3 gene are associated with both fatal respiratory distress in the neonatal period and interstitial lung disease in older infants, children, and adults. (PMID:19220077)
• A case of newborn respiratory distress syndrome associated with ABCA3 transporter deficiency and a ABCA3 mutation is described. (PMID:19252731)
• The identification of one copy of this novel mutation in a premature infant with chronic respiratory insufficiency suggests that ABCA3 haploinsufficiency together with lung prematurity may result in more severe, or more prolonged, respiratory failure (PMID:19861431)
• Decreased ABCA3 expression is associated with breast cancer. (PMID:19902402)
• The segregation of ABCA3 alleles, absence of ABCA3 immunostaining, lung pathology, and ultrastructural findings support genetic ABCA3 deficiency as the cause of lung disease. (PMID:20304423)
• Subclinical fibrotic changes may be present in family members of patients with SFTPC mutation-associated interstitial lung disease and suggest ABCA3 variants could affect disease pathogenesis. (PMID:20371530)
• Data show that the ABCA3 N-terminus is proteolytically removed inside acidic LAMP3-positive vesicles MVB/LB. (PMID:20863830)
• Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATPbinding cassette protein A3 and telomerase, and found no abnormalities. (PMID:21165348)
• Suggest that expression of partially or completely endoplasmic reticulum localized ABCA3 mutant proteins can increase the apoptotic cell death of the affected cells. (PMID:21214890)
• SALL4 was able to bind to the promoter region of ABCA3 and activate its expression while regulating the expression of ABCG2 indirectly. (PMID:21526180)
• A novel conserved targeting motif found in ABCA transporters mediates trafficking to early post-Golgi compartments. (PMID:21586796)
• Lymphoma exosomes shield target cells from antibody attack and that exosome biogenesis is modulated by the lysosome-related organelle-associated ATP-binding cassette (ABC) transporter A3 (ABCA3). (PMID:21873242)
• identification of new ABCA3 mutations in patients with life-threatening neonatal respiratory distress and/or pediatric interstitial lung disease (ILD); two mutations associated with ILD acted via different pathophysiological mechanisms despite similar clinical phenotypes (PMID:22068586)
• the ABCA3 missense mutation E292V had no remarkable effect on pulmonary outcome in VLBW infants. Present results do not rule out the possibility that E292V phenotype is associated with minor difference in the morbidity. (PMID:22145626)
• An intronic ABCA3 mutation is responsible for a fatal respiratory disease in newborns. (PMID:22337229)
• Data suggest the impairment of epithelial function as a mechanism by which ABCA3 mutations cause interstitial lung disease (ILD). (PMID:22434821)
• Genetic variants within ABCA3 may be the genetic cause of or a contributor to some unexplained refractory neonatal respiratory distress syndrome. (PMID:22455634)
• There is an association between a synonymous cSNP rs323043 and the development of neonatal respiratory distress syndrome. (PMID:22800827)
• partially reduced ABCA3 activity due to E292V is not a major risk factor for reduced lung function and COPD in the general population (PMID:22866751)
• Although ABCA3 mutations are individually rare, they are collectively common among European- and African-descent individuals in the general population. (PMID:23166334)
• Tyrosine kinase inhibitor exposure facilitates a protective loop of SALL4 and ABCA3 cooperation in persistent leukaemic cells. (PMID:23432194)
• Identification of novel compound heterozygous mutations in the coding exons of ABCA3 in two brothers with interstitial lung disease. (PMID:23443156)
• Report of ABCA3 mutations in a family with one child exhibiting interstitial lung disease. (PMID:23846195)
• cotranslational N-linked glycosylation at N124 and N140 is critical for ABCA3 stability, and its disruption results in protein destabilization and proteasomal degradation (PMID:24142515)
• Our findings indicate a considerable and direct relationship between mRNA expression levels of ABCA2, ABCA3, MDR1, and MRP1 genes and positive minimal residual disease (MRD) measured after one year of treatment. (PMID:24145140)
• A compound heterozygote for both novel mutations in the ABCA3 gene. (PMID:24269975)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	abca3b	ENSDARG00000100524
mus_musculus	Abca3	ENSMUSG00000024130
rattus_norvegicus	Abca3	ENSRNOG00000050057
drosophila_melanogaster	Eato	FBGN0028539
drosophila_melanogaster	CG1494	FBGN0031169
drosophila_melanogaster	Abca3	FBGN0031170
drosophila_melanogaster	CG1801	FBGN0031171
drosophila_melanogaster	CG8908	FBGN0034493
drosophila_melanogaster	CG6052	FBGN0036747
drosophila_melanogaster	CG31213	FBGN0051213
drosophila_melanogaster	ldd	FBGN0083956
caenorhabditis_elegans		WBGENE00000019
caenorhabditis_elegans	abt-2	WBGENE00000020
caenorhabditis_elegans		WBGENE00000022
caenorhabditis_elegans	abt-5	WBGENE00000023

Paralogs (11): ABCA7 (ENSG00000064687), ABCA2 (ENSG00000107331), ABCA8 (ENSG00000141338), ABCA12 (ENSG00000144452), ABCA9 (ENSG00000154258), ABCA6 (ENSG00000154262), ABCA10 (ENSG00000154263), ABCA5 (ENSG00000154265), ABCA1 (ENSG00000165029), ABCA13 (ENSG00000179869), ABCA4 (ENSG00000198691)

Protein

Protein identifiers

Phospholipid-transporting ATPase ABCA3 — Q99758 (reviewed: Q99758)

Alternative names: ABC-C transporter, ATP-binding cassette sub-family A member 3, ATP-binding cassette transporter 3, Xenobiotic-transporting ATPase ABCA3

All UniProt accessions (2): Q99758, H0Y3H2

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar bodies biogenesis and homeostasis of pulmonary surfactant. Transports preferentially phosphatidylcholine containing short acyl chains. In addition plays a role as an efflux transporter of miltefosine across macrophage membranes and free cholesterol (FC) through intralumenal vesicles by removing FC from the cell as a component of surfactant and protects cells from free cholesterol toxicity.

Subunit / interactions. Homooligomer; disulfide-linked.

Subcellular location. Endosome. Multivesicular body membrane. Cytoplasmic vesicle membrane. Late endosome membrane. Lysosome membrane.

Tissue specificity. Expressed in brain, pancreas, skeletal muscle and heart. Highly expressed in the lung in an AT2-cell-specific manner. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma.

Post-translational modifications. N-glycosylated. Localization at intracellular vesicles is accompanied by processing of oligosaccharide from high mannose type to complex type. N-linked glycosylation at Asn-124 and Asn-140 is required for stability and efficient anterograde trafficking and prevents from proteasomal degradation. Proteolytically cleaved by CTSL and to a lower extent by CTSB within multivesicular bodies (MVB) and lamellar bodies (LB) leading to a mature form of 150 kDa.

Disease relevance. Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. The ATP-dependent phosphatidylcholine transport is competitively inhibited by miltefosine.

Domain organisation. Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.

Induction. Up-regulated in Leishmania Viannia (L.V.) panamensis-infected macrophages exposed to miltefosine. Down-regulated by L.V.panamensis infection.

Similarity. Belongs to the ABC transporter superfamily. ABCA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q99758-1	1	yes
Q99758-2	2

RefSeq proteins (1): NP_001080* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR013525	ABC2_TM	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR026082	ABCA	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR056264	R2_ABCA1-4-like	Domain

Pfam: PF00005, PF12698, PF23321

Catalyzed reactions (Rhea), 4 shown:

• cholesterol(in) + ATP + H2O = cholesterol(out) + ADP + phosphate + H(+) (RHEA:39051)
• a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ADP + phosphate + H(+) (RHEA:66272)
• 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine(in) + ATP + H2O = 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine(out) + ADP + phosphate + H(+) (RHEA:66340)
• a 1,2-diacyl-sn-glycero-3-phospho-(1’-sn-glycerol)(in) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1’-sn-glycerol)(out) + ADP + phosphate + H(+) (RHEA:66344)

UniProt features (224 total): helix 67, strand 62, sequence variant 28, turn 24, transmembrane region 14, mutagenesis site 12, glycosylation site 6, chain 2, domain 2, binding site 2, splice variant 2, sequence conflict 2, site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7W01	ELECTRON MICROSCOPY	3.3
7W02	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99758-F1	81.00	0.23

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 174–175 (cleavage; by ctsl)

Ligand- & substrate-binding residues (2): 566–573; 1416–1423

Glycosylation sites (6): 14, 53, 124, 140, 620, 783

Mutagenesis-validated functional residues (12):

Position	Phenotype
53	does not affect n-glycosylation. does not affect protein expression. does not affect lamellar body membrane location.
124	loss of n-glycosylation. reduces protein expression by 50%. affects anterograde trafficking; when associated with q-140.
140	loss of n-glycosylation. reduces protein expression by 50%. affects anterograde trafficking; when associated with q-124.
173–174	loss of proteolytic processing.
693	does not affect protein oligomerization.
945	does not affect lamellar body membrane location. does not affect protein expression. does not affect proteolytic process
1221	decreases atp hydrolysis activity of 15% compared to the wild-type.
1221	decreases atp hydrolysis activity of 36% compared to the wild-type.
1221	decreases atp hydrolysis activity of 18% compared to the wild-type.
1580	decreases atp hydrolysis activity of 13% compared to the wild-type.
1580	decreases atp hydrolysis activity of 56% compared to the wild-type.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-1369062	ABC transporters in lipid homeostasis
R-HSA-5683678	Defective ABCA3 causes SMDP3
R-HSA-5683826	Surfactant metabolism
R-HSA-5688399	Defective ABCA3 causes SMDP3
R-HSA-1643685	Disease
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport
R-HSA-392499	Metabolism of proteins
R-HSA-5619084	ABC transporter disorders
R-HSA-5619115	Disorders of transmembrane transporters
R-HSA-5668914	Diseases of metabolism
R-HSA-5687613	Diseases associated with surfactant metabolism

MSigDB gene sets: 346 (showing top): GGGACCA_MIR133A_MIR133B, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GRUETZMANN_PANCREATIC_CANCER_DN, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_RESPONSE_TO_CORTICOSTEROID, GOBP_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_POSITIVE_REGULATION_OF_STEROL_TRANSPORT, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_XENOBIOTIC_TRANSMEMBRANE_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_PHOSPHATIDYLGLYCEROL_METABOLIC_PROCESS, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION

GO Biological Process (23): xenobiotic transmembrane transport (GO:0006855), lipid transport (GO:0006869), response to xenobiotic stimulus (GO:0009410), positive regulation of cholesterol efflux (GO:0010875), phospholipid transport (GO:0015914), lung development (GO:0030324), positive regulation of protein homooligomerization (GO:0032464), xenobiotic transport (GO:0042908), surfactant homeostasis (GO:0043129), phosphatidylcholine metabolic process (GO:0046470), phosphatidylglycerol metabolic process (GO:0046471), xenobiotic export from cell (GO:0046618), regulation of lipid biosynthetic process (GO:0046890), response to glucocorticoid (GO:0051384), phospholipid homeostasis (GO:0055091), organelle assembly (GO:0070925), regulation of phosphatidylcholine metabolic process (GO:0150172), positive regulation of phospholipid efflux (GO:1902995), positive regulation of phospholipid transport (GO:2001140), regulation of lipid transport (GO:0032368), lipid translocation (GO:0034204), transmembrane transport (GO:0055085), intermembrane lipid transfer (GO:0120009)

GO Molecular Function (10): lipid carrier activity (GO:0005319), ATP binding (GO:0005524), ABC-type xenobiotic transporter activity (GO:0008559), ATP hydrolysis activity (GO:0016887), ATPase-coupled transmembrane transporter activity (GO:0042626), phosphatidylcholine transfer activity (GO:0120019), phosphatidylcholine flippase activity (GO:0140345), nucleotide binding (GO:0000166), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), ABC-type transporter activity (GO:0140359)

GO Cellular Component (17): obsolete extracellular space (GO:0005615), lysosomal membrane (GO:0005765), late endosome (GO:0005770), plasma membrane (GO:0005886), cytoplasmic vesicle membrane (GO:0030659), multivesicular body membrane (GO:0032585), lamellar body (GO:0042599), alveolar lamellar body (GO:0097208), lamellar body membrane (GO:0097232), alveolar lamellar body membrane (GO:0097233), cytoplasm (GO:0005737), lysosome (GO:0005764), endosome (GO:0005768), endomembrane system (GO:0012505), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), late endosome membrane (GO:0031902)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Disease	2
ABC-family protein mediated transport	1
ABC transporter disorders	1
Metabolism of proteins	1
Diseases associated with surfactant metabolism	1
Transport of small molecules	1
Disorders of transmembrane transporters	1
Diseases of metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity	3
cellular anatomical structure	3
xenobiotic transport	2
transmembrane transport	2
transport	2
lipid transport	2
glycerophospholipid metabolic process	2
cytoplasmic vesicle	2
lamellar body	2
lipid localization	1
response to chemical	1
regulation of cholesterol efflux	1
positive regulation of cholesterol transport	1
cholesterol efflux	1
organophosphate ester transport	1
respiratory tube development	1
animal organ development	1
respiratory system development	1
positive regulation of protein oligomerization	1
regulation of protein homooligomerization	1
protein homooligomerization	1
multicellular organismal-level chemical homeostasis	1
export from cell	1
lipid biosynthetic process	1
regulation of biosynthetic process	1
regulation of lipid metabolic process	1
response to corticosteroid	1
lipid homeostasis	1
organelle organization	1
cellular component assembly	1
phosphatidylcholine metabolic process	1
regulation of phospholipid metabolic process	1
phospholipid efflux	1
regulation of phospholipid efflux	1
positive regulation of phospholipid transport	1
phospholipid transport	1
positive regulation of lipid transport	1
regulation of phospholipid transport	1
regulation of transport	1
regulation of lipid localization	1

Protein interactions and networks

STRING

1264 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCA3	SFTPB	P07988	959
ABCA3	SFTPC	P11686	895
ABCA3	CSF2RA	P15509	809
ABCA3	SFTPA2	P07714	701
ABCA3	X6REF7	X6REF7	650
ABCA3	NKX2-1	P43699	622
ABCA3	AQP5	P55064	572
ABCA3	LPCAT1	Q8NF37	570
ABCA3	ABCC4	O15439	564
ABCA3	P3H3	Q8IVL6	547
ABCA3	SFTPD	P35247	543
ABCA3	SCGB1A1	P11684	506
ABCA3	HOPX	Q9BPY8	488
ABCA3	RTEL1	Q9NZ71	488
ABCA3	CSF2RB	P32927	473

IntAct

73 interactions, top by confidence:

A	B	Type	Score
TMEM9B	DNAJC13	psi-mi:“MI:0914”(association)	0.640
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
MCOLN3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
ZNRF4	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
PCDHB16	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
TMPRSS12	FZD6	psi-mi:“MI:0914”(association)	0.530
TCTN2	TPST2	psi-mi:“MI:0914”(association)	0.530
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
CHRND	TPST2	psi-mi:“MI:0914”(association)	0.530
ABCA3	HTR2B	psi-mi:“MI:0915”(physical association)	0.370
UPK1A	TMEM223	psi-mi:“MI:0914”(association)	0.350
ASIC4	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
CD79B	GOLIM4	psi-mi:“MI:0914”(association)	0.350
IL17RC	C2CD2L	psi-mi:“MI:0914”(association)	0.350
MPPE1	ADAM10	psi-mi:“MI:0914”(association)	0.350
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
CHRND	EXTL3	psi-mi:“MI:0914”(association)	0.350
PMEL	MAN1A2	psi-mi:“MI:0914”(association)	0.350
TTMP	TMEM223	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
ZDHHC12	NBAS	psi-mi:“MI:0914”(association)	0.350
MPPE1	FAM234B	psi-mi:“MI:0914”(association)	0.350
TCTN2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
IL17RC	TMEM131L	psi-mi:“MI:0914”(association)	0.350

BioGRID (99): ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K1Q8, B2RX12, E9PU17, E9PX95, F1MWM0, O00329, O15438, O35600, O75899, O88563, O88871, O94911, O95477, P41233, P55205, P58428, P78363, Q09427, Q09428, Q09429, Q2NKY8, Q5BJS0, Q5R607, Q5ZI74, Q6TL19, Q7L2E3, Q7TNJ2, Q80T41, Q84M24, Q8CF82, Q8IUA7, Q8K440, Q8K441, Q8K442, Q8K448, Q8K449, Q8LPK0, Q8N139, Q8NCL4, Q8R420

Diamond homologs: A0A0G2K1Q8, C0SPB4, E9PU17, E9PX95, E9Q876, F1MWM0, O35600, O52618, O95477, P08720, P0A9U1, P0A9U2, P0DXG8, P0DXU5, P0DXU7, P19844, P22040, P23703, P26050, P30750, P32010, P36879, P37624, P41233, P41234, P44785, P50332, P54592, P55476, P63355, P63356, P70970, P72335, P78363, P94374, P94440, Q05067, Q0I5E9, Q0TLD2, Q13ZJ1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SALL4	“up-regulates quantity by expression”	ABCA3	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 93 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
SLC-mediated transmembrane transport	7	7.7×	4e-03
Transport of small molecules	11	5.1×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1923 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	84
Likely pathogenic	51
Uncertain significance	552
Likely benign	969
Benign	76

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068619	NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)	Pathogenic
1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	Pathogenic
1211382	NM_001089.3(ABCA3):c.3863-98C>T	Pathogenic
1251986	NM_001089.3(ABCA3):c.3235C>T (p.Gln1079Ter)	Pathogenic
1317554	NM_001089.3(ABCA3):c.3997_3998del (p.Arg1333fs)	Pathogenic
1322151	NM_001089.3(ABCA3):c.1286-2A>G	Pathogenic
1331730	NM_001089.3(ABCA3):c.4141_4142del (p.Leu1381fs)	Pathogenic
1437739	NM_001089.3(ABCA3):c.3322del (p.Met1108fs)	Pathogenic
1453370	NM_001089.3(ABCA3):c.2264-2A>G	Pathogenic
147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	Pathogenic
1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	Pathogenic
1730473	NM_001089.3(ABCA3):c.3348_3360del (p.Ile1117fs)	Pathogenic
1735105	NM_001089.3(ABCA3):c.3805G>T (p.Glu1269Ter)	Pathogenic
1736036	NM_001089.3(ABCA3):c.3902dup (p.Val1303fs)	Pathogenic
1738591	NM_001089.3(ABCA3):c.4195G>A (p.Val1399Met)	Pathogenic
1769442	NM_001089.3(ABCA3):c.1302G>A (p.Trp434Ter)	Pathogenic
1772770	NM_001089.3(ABCA3):c.1444C>T (p.Gln482Ter)	Pathogenic
1773031	NM_001089.3(ABCA3):c.1455C>A (p.Tyr485Ter)	Pathogenic
1799308	NM_001089.3(ABCA3):c.3057dup (p.Asn1020Ter)	Pathogenic
2114317	NM_001089.3(ABCA3):c.2769G>A (p.Trp923Ter)	Pathogenic
2149613	NM_001089.3(ABCA3):c.1705G>A (p.Gly569Ser)	Pathogenic
2446039	NM_001089.3(ABCA3):c.2279T>G (p.Met760Arg)	Pathogenic
2628386	NM_001089.3(ABCA3):c.2429_2430del (p.Phe810fs)	Pathogenic
2631175	NM_001089.3(ABCA3):c.4483_4507del (p.Val1495fs)	Pathogenic
2631264	NM_001089.3(ABCA3):c.4776del (p.Phe1592fs)	Pathogenic
2631475	NM_001089.3(ABCA3):c.2404_2405del (p.Ser802fs)	Pathogenic
2694674	NM_001089.3(ABCA3):c.3632del (p.Thr1211fs)	Pathogenic
2697616	NM_001089.3(ABCA3):c.4711del (p.Ser1571fs)	Pathogenic
2714319	NM_001089.3(ABCA3):c.914G>A (p.Trp305Ter)	Pathogenic
2736306	NM_001089.3(ABCA3):c.4899_4903dup (p.Phe1635Ter)	Pathogenic

SpliceAI

5963 predictions. Top by Δscore:

Variant	Effect	Δscore
16:2276804:ACC:A	acceptor_loss	1.0000
16:2276805:CCTT:C	acceptor_gain	1.0000
16:2276806:C:CC	acceptor_gain	1.0000
16:2276806:C:CG	acceptor_loss	1.0000
16:2277592:CTCA:C	donor_loss	1.0000
16:2277593:TCACC:T	donor_loss	1.0000
16:2277594:CACC:C	donor_loss	1.0000
16:2277595:A:AC	donor_gain	1.0000
16:2277596:C:CC	donor_gain	1.0000
16:2277667:CTGC:C	acceptor_gain	1.0000
16:2277668:TGC:T	acceptor_gain	1.0000
16:2277669:GC:G	acceptor_gain	1.0000
16:2277669:GCCT:G	acceptor_loss	1.0000
16:2277670:CC:C	acceptor_gain	1.0000
16:2277671:C:CC	acceptor_gain	1.0000
16:2277674:C:CT	acceptor_gain	1.0000
16:2277676:C:CT	acceptor_gain	1.0000
16:2277677:A:T	acceptor_gain	1.0000
16:2277878:C:CA	donor_loss	1.0000
16:2278065:CCATG:C	acceptor_gain	1.0000
16:2278066:CATG:C	acceptor_gain	1.0000
16:2278066:CATGC:C	acceptor_gain	1.0000
16:2278068:TG:T	acceptor_gain	1.0000
16:2278070:C:CC	acceptor_gain	1.0000
16:2278070:CTGT:C	acceptor_loss	1.0000
16:2278282:CTCTA:C	donor_loss	1.0000
16:2278283:TCTA:T	donor_loss	1.0000
16:2278286:ACCTG:A	donor_loss	1.0000
16:2278314:G:A	donor_gain	1.0000
16:2278454:CACCA:C	acceptor_gain	1.0000

AlphaMissense

11171 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:2292145:G:C	F836L	0.998
16:2292145:G:T	F836L	0.998
16:2292147:A:G	F836L	0.998
16:2278045:G:C	C1581W	0.997
16:2281145:A:G	L1414P	0.997
16:2323601:A:G	W179R	0.997
16:2323601:A:T	W179R	0.997
16:2277986:A:G	L1601P	0.996
16:2278369:T:C	D1546G	0.996
16:2278393:A:G	L1538P	0.996
16:2281140:C:G	G1416R	0.996
16:2285586:G:C	S1113R	0.996
16:2285586:G:T	S1113R	0.996
16:2285588:T:G	S1113R	0.996
16:2297397:C:G	R732P	0.996
16:2278047:A:G	C1581R	0.995
16:2278346:A:G	W1554R	0.995
16:2278346:A:T	W1554R	0.995
16:2278369:T:A	D1546V	0.995
16:2278390:T:A	D1539V	0.995
16:2278438:A:G	L1523P	0.995
16:2281122:T:G	K1422Q	0.995
16:2281148:C:T	G1413D	0.995
16:2286843:G:C	N1043K	0.995
16:2286843:G:T	N1043K	0.995
16:2295611:A:G	L798P	0.995
16:2297343:A:G	L750P	0.995
16:2297416:C:G	A726P	0.995
16:2299430:T:G	K572Q	0.995
16:2319644:G:C	S270R	0.995

dbSNP variants (sampled 300 via entrez): RS1000007320 (16:2285138 G>A), RS1000065231 (16:2317466 G>A), RS1000112690 (16:2315641 G>A), RS1000125695 (16:2289227 G>C), RS1000183379 (16:2303731 T>C), RS1000258122 (16:2280115 A>T), RS1000258629 (16:2303464 A>G), RS1000303594 (16:2284660 T>G), RS1000338546 (16:2318600 C>T), RS1000420786 (16:2313647 G>A), RS1000458168 (16:2326871 C>T), RS1000482212 (16:2312736 T>C), RS1000526809 (16:2339434 T>C), RS1000590897 (16:2308052 G>A,C), RS1000591985 (16:2338268 C>T)

Disease associations

OMIM: gene MIM:601615 | disease phenotypes: MIM:610921, MIM:265120, MIM:611867, MIM:237300, MIM:178500, MIM:609192, MIM:600669, MIM:266920, MIM:617027, MIM:613458

GenCC curated gene-disease

Disease	Classification	Inheritance
interstitial lung disease due to ABCA3 deficiency	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
interstitial lung disease due to ABCA3 deficiency	Definitive	AR

Mondo (17): interstitial lung disease due to ABCA3 deficiency (MONDO:0012582), hereditary pulmonary alveolar proteinosis (MONDO:0012580), chromosome 22q11.2 deletion syndrome, distal (MONDO:0012740), carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376), surfactant metabolism dysfunction, pulmonary, 1 (MONDO:0009929), prostate cancer (MONDO:0008315), interstitial lung disease 2 (MONDO:0800497), Loeys-Dietz syndrome (MONDO:0018954), epilepsy (MONDO:0005027), idiopathic generalized epilepsy (MONDO:0005579), short-rib thoracic dysplasia 9 with or without polydactyly (MONDO:0009964), hyperaldosteronism, familial, type IV (MONDO:0014875), respiratory failure (MONDO:0021113), endometrial carcinoma (MONDO:0002447), chromosome 16p13.3 duplication syndrome (MONDO:0013273)

Orphanet (15): Interstitial lung disease due to ABCA3 deficiency (Orphanet:440402), Hereditary pulmonary alveolar proteinosis (Orphanet:264675), Distal 22q11.2 microdeletion syndrome (Orphanet:261330), Carbamoyl-phosphate synthetase 1 deficiency (Orphanet:147), Neonatal acute respiratory distress syndrome (Orphanet:217563), Familial prostate cancer (Orphanet:1331), Idiopathic pulmonary fibrosis (Orphanet:2032), Acute interstitial pneumonia (Orphanet:79126), Loeys-Dietz syndrome (Orphanet:60030), Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies (Orphanet:100049), Saldino-Mainzer syndrome (Orphanet:140969), Familial hyperaldosteronism type IV (Orphanet:642671), 16p13.3 microduplication syndrome (Orphanet:96078), Rare pulmonary disease (Orphanet:101944), Interstitial lung disease (Orphanet:182095)

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000765	Abnormal thorax morphology
HP:0000961	Cyanosis
HP:0001063	Acrocyanosis
HP:0001217	Clubbing
HP:0001508	Failure to thrive
HP:0001522	Death in infancy
HP:0001622	Premature birth
HP:0001649	Tachycardia
HP:0001662	Bradycardia
HP:0001667	Right ventricular hypertrophy
HP:0001695	Cardiac arrest
HP:0002020	Gastroesophageal reflux
HP:0002090	Pneumonia
HP:0002092	Pulmonary arterial hypertension
HP:0002094	Dyspnea
HP:0002098	Respiratory distress
HP:0002104	Apnea
HP:0002110	Bronchiectasis
HP:0002113	Pulmonary infiltrates
HP:0002206	Pulmonary fibrosis
HP:0002615	Hypotension
HP:0002643	Neonatal respiratory distress
HP:0002789	Tachypnea
HP:0002875	Exertional dyspnea
HP:0002878	Respiratory failure
HP:0003546	Exercise intolerance
HP:0003577	Congenital onset
HP:0003811	Neonatal death
HP:0004876	Spontaneous neonatal pneumothorax

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004011_3	RR interval (tricyclic/tetracyclic antidepressant use interaction)	3.000000e-07
GCST008154_12	Trunk fat mass	8.000000e-07
GCST008362_58	Birth weight	3.000000e-08
GCST012322_20	Triglyceride levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder	4.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004831	RR interval
EFO:0007916	response to tricyclic antidepressant
EFO:0004344	birth weight
EFO:0004530	triglyceride measurement
EFO:0005658	response to selective serotonin reuptake inhibitor

MeSH disease descriptors (12)

Descriptor	Name	Tree numbers
D020165	Carbamoyl-Phosphate Synthase I Deficiency Disease	C10.228.140.163.100.937.249; C16.320.565.100.940.249; C16.320.565.189.937.249; C18.452.132.100.937.249; C18.452.648.100.940.249; C18.452.648.189.937.249; C18.452.660.097
D004827	Epilepsy	C10.228.140.490
D055947	Loeys-Dietz Syndrome	C05.660.207.532; C14.907.055.239.587; C14.907.109.139.587; C16.131.077.537; C16.320.510
D008171	Lung Diseases	C08.381
D017563	Lung Diseases, Interstitial	C08.381.483
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
D012131	Respiratory Insufficiency	C08.618.846
C567511	Chromosome 22q11.2 Deletion Syndrome, Distal (supp.)
C562694	Epilepsy, Idiopathic Generalized (supp.)
C535832	Pulmonary alveolar proteinosis, congenital (supp.)
C566882	Surfactant Metabolism Dysfunction, Pulmonary, 1 (supp.)
C567046	Surfactant Metabolism Dysfunction, Pulmonary, 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs150929	ABCA3		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCA subfamily

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects binding, increases expression, affects cotreatment, decreases expression, affects expression	4
Benzo(a)pyrene	affects methylation, decreases expression	2
Nickel	decreases expression	2
Valproic Acid	affects expression, increases expression	2
Aflatoxin B1	increases methylation	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
ethyl-p-hydroxybenzoate	decreases expression	1
arsenite	affects binding, decreases reaction	1
benzo(e)pyrene	increases methylation	1
didecyldimethylammonium	increases expression	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
abrine	decreases expression	1
(+)-JQ1 compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Docetaxel	decreases expression, decreases response to substance	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Calcitriol	increases expression	1
Copper	increases expression, affects binding	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Disulfiram	affects binding, increases expression	1
Doxorubicin	increases expression, decreases response to substance	1

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A1WW	SMCPGHi001-A	Induced pluripotent stem cell	Male
CVCL_D7JB	Ubigene A-549 ABCA3 KO	Cancer cell line	Male
CVCL_SA92	HAP1 ABCA3 (-) 1	Cancer cell line	Male
CVCL_XK88	HAP1 ABCA3 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
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