Summary: 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, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008].

ATP binding cassette subfamily A member 12MIM:607800Ensembl:ENSG00000144452HGNC:HGNC:14637PA296042q35

GO terms in ABCA12

Term TypeEvidence TypeGO Term IDGO Des.
BPIBAGO:0006869lipid transport
BPIDAGO:0006869lipid transport
BPNASGO:0006869lipid transport
BPIDAGO:0010875positive regulation of cholesterol efflux
BPNASGO:0019725cellular homeostasis
BPIMPGO:0032940secretion by cell
BPIMPGO:0033700phospholipid efflux
BPIEAGO:0035627ceramide transport
BPIEAGO:0043129surfactant homeostasis
BPIMPGO:0045055regulated exocytosis
BPIEAGO:0048286lung alveolus development
BPTASGO:0055085transmembrane transport
BPIEAGO:0055088lipid homeostasis
BPIEAGO:0061436establishment of skin barrier
BPIDAGO:0072659protein localization to plasma membrane
BPIMPGO:0072659protein localization to plasma membrane
BPIEAGO:2000010positive regulation of protein localization to cell surface
CCIDAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCNASGO:0016021integral component of membrane
CCIBAGO:0043231intracellular membrane-bounded organelle
CCIDAGO:0097209epidermal lamellar body
MFIPIGO:0005102signaling receptor binding
MFIDAGO:0005319lipid transporter activity
MFTASGO:0005319lipid transporter activity
MFIPIGO:0005515protein binding
MFNASGO:0005524ATP binding
MFICGO:0034040lipid-transporting ATPase activity
MFIPIGO:0034191apolipoprotein A-I receptor binding
MFIBAGO:0042626ATPase activity, coupled to transmembrane movement of substances

Gene expression in normal tissue: ABCA12

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ABCA12

DatabasePathway IDPathway Des.
kegghsa02010ABC transporters - Homo sapiens (human)
reactomeR-HSA-1369062ABC transporters in lipid homeostasis
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-382556ABC-family proteins mediated transport
reactomeR-HSA-5619084ABC transporter disorders
reactomeR-HSA-5619115Disorders of transmembrane transporters
reactomeR-HSA-5682294Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ABCA12