ABCA3 (ATP binding cassette subfamily A member 3)

2007-02-01  

Identity

HGNC
ABCA3
LOCATION
16p13.3
LOCUSID
21
ALIAS
ABC-C,ABC3,EST111653,LBM180,SMDP3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376579922024Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.0
382266232024Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.1
383451072024Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.0
385411452024Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome-A Pilot Study.0
376579922024Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.0
382266232024Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.1
383451072024Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.0
385411452024Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome-A Pilot Study.0
363242782023Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.0
368080832023ABCA3-related interstitial lung disease beyond infancy.8
371758872023ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.3
380192572023Increased Expression of the ABCA1 and ABCA3 Transporter Genes is Associated with Cisplatin Resistance in Breast Cancer Cells.1
363242782023Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.0
368080832023ABCA3-related interstitial lung disease beyond infancy.8
371758872023ABCA3 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