AutismKB 2.0

Annotation Details for ABCA12


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Basic Information Top
Gene Symbol:ABCA12 ( DKFZp434G232,FLJ41584,ICR2B,LI2 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 12
Band: 2q35
Quick LinksEntrez ID:26154; OMIM: 607800; Uniprot ID:ABCAC_HUMAN; ENSEMBL ID: ENSG00000144452; HGNC ID: 14637
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm23931754
GO:0005743IEA-mitochondrial inner membrane-
GO:0005829IEA-cytosol-
GO:0005886IDA-plasma membrane23931754
GO:0005886TAS-plasma membrane-
GO:0016021NAS-integral component of membrane12697999
GO:0043231IBA-intracellular membrane-bounded organelle-
GO:0097209IDA-epidermal lamellar body16007253
GO ID Evidence Qualifier GO_term References
GO:0005102IPI-receptor binding23931754
GO:0005319IDA-lipid transporter activity16007253
GO:0005319TAS-lipid transporter activity-
GO:0005515IPI-protein binding23931754
GO:0005524NAS-ATP binding12697999
GO:0034040IC-lipid-transporting ATPase activity16007253
GO:0034191IPI-apolipoprotein A-I receptor binding23931754
GO:0042626IBA-ATPase activity, coupled to transmembrane movement of substances-
GO ID Evidence Qualifier GO_term References
GO:0006869IDA-lipid transport16007253
GO:0006869NAS-lipid transport12915478
GO:0010875IDA-positive regulation of cholesterol efflux23931754
GO:0019725NAS-cellular homeostasis12697999
GO:0031424IEA-keratinization-
GO:0032940IMP-secretion by cell16007253
GO:0033700IMP-phospholipid efflux23931754
GO:0035627IEA-ceramide transport-
GO:0043129IEA-surfactant homeostasis-
GO:0045055IMP-regulated exocytosis16007253
GO:0048286IEA-lung alveolus development-
GO:0055085TAS-transmembrane transport-
GO:0055088IEA-lipid homeostasis-
GO:0061436IEA-establishment of skin barrier-
GO:0072659IDA-protein localization to plasma membrane23931754
GO:0072659IMP-protein localization to plasma membrane23931754
GO:2000010IEA-positive regulation of protein localization to cell surface-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
ABCA12rs952718, rs956133 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:2676312
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030131-9790'