AutismKB 2.0

Annotation Details for ABCA2


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Basic Information Top
Gene Symbol:ABCA2 ( ABC2,MGC129761 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 2
Band: 9q34.3
Quick LinksEntrez ID:20; OMIM: 600047; Uniprot ID:Q9HC28_HUMAN; ENSEMBL ID: ENSG00000107331; HGNC ID: 32
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005764IDA-lysosome11309290
GO:0005765NAS-lysosomal membrane11309290
GO:0005768IDA-endosome11309290
GO:0005815ISS-microtubule organizing center-
GO:0010008IEA-endosome membrane-
GO:0016020IDA-membrane19946888
GO:0016021IDA-integral component of membrane15999530
GO:0016021NAS-integral component of membrane11309290
GO:0031410ISS-cytoplasmic vesicle-
GO:0043190NAS-ATP-binding cassette (ABC) transporter complex11178988
GO ID Evidence Qualifier GO_term References
GO:0000166NAS-nucleotide binding12363033
GO:0005524IDA-ATP binding15999530
GO:0005524ISS-ATP binding-
GO:0016887IDA-ATPase activity15999530
GO:0042626IBA-ATPase activity, coupled to transmembrane movement of substances-
GO:0042626NAS-ATPase activity, coupled to transmembrane movement of substances7766993
GO ID Evidence Qualifier GO_term References
GO:0006357IDA-regulation of transcription from RNA polymerase II promoter15238223
GO:0006629NAS-lipid metabolic process11178988
GO:0006810NAS-transport7766993
GO:0032383IMP-regulation of intracellular cholesterol transport15238223
GO:0042493TAS-response to drug12363033
GO:0042632IEP-cholesterol homeostasis15238223
GO:0048545IEP-response to steroid hormone15238223
GO:0055085IEA-transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
ABCA2rs908832 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:99606
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-050517-1'