ABCA3 (ATP binding cassette subfamily A member 3)

2007-02-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
ABC-C,ABC3,EST111653,LBM180,SMDP3
FUSION GENES

Other Information

Locus ID:

NCBI: 21
MIM: 601615
HGNC: 33
Ensembl: ENSG00000167972

Variants:

dbSNP: 21
ClinVar: 21
TCGA: ENSG00000167972
COSMIC: ABCA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167972ENST00000301732Q99758
ENSG00000167972ENST00000382381H0Y3H2
ENSG00000167972ENST00000567910Q99758

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Metabolism of proteinsREACTOMER-HSA-392499
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062
Surfactant metabolismREACTOMER-HSA-5683826

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206569462010Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.81
192200772009Genetic disorders of surfactant dysfunction.71
159763792005ABCA3 mutations associated with pediatric interstitial lung disease.69
218732422011Exosomal evasion of humoral immunotherapy in aggressive B-cell lymphoma modulated by ATP-binding cassette transporter A3.69
119405942002Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3.58
164153542006Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.57
180245382008Clinical, radiological and pathological features of ABCA3 mutations in children.55
175976472007Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.38
248719712014Genotype-phenotype correlations for infants and children with ABCA3 deficiency.38
212148902011Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells.35

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)