Entity Details

Primary name ABCA2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BZC7
EntryNameABCA2_HUMAN
FullNameATP-binding cassette sub-family A member 2
TaxID9606
Evidenceevidence at protein level
Length2435
SequenceStatuscomplete
DateCreated2001-07-11
DateModified2021-06-02

Ontological Relatives

GenesABCA2

GO terms

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GOName
GO:0000166 nucleotide binding
GO:0001573 ganglioside metabolic process
GO:0005319 lipid transporter activity
GO:0005524 ATP binding
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005815 microtubule organizing center
GO:0005886 plasma membrane
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006629 lipid metabolic process
GO:0006684 sphingomyelin metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0006869 lipid transport
GO:0007626 locomotory behavior
GO:0010008 endosome membrane
GO:0010872 regulation of cholesterol esterification
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016887 ATP hydrolysis activity
GO:0031410 cytoplasmic vesicle
GO:0032289 central nervous system myelin formation
GO:0032383 regulation of intracellular cholesterol transport
GO:0032384 negative regulation of intracellular cholesterol transport
GO:0032805 positive regulation of low-density lipoprotein particle receptor catabolic process
GO:0042493 response to drug
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042632 cholesterol homeostasis
GO:0042986 positive regulation of amyloid precursor protein biosynthetic process
GO:0043190 ATP-binding cassette (ABC) transporter complex
GO:0043231 intracellular membrane-bounded organelle
GO:0046512 sphingosine biosynthetic process
GO:0048545 response to steroid hormone
GO:0055085 transmembrane transport
GO:0060049 regulation of protein glycosylation
GO:0061135 endopeptidase regulator activity
GO:0070723 response to cholesterol
GO:0071072 negative regulation of phospholipid biosynthetic process
GO:0090155 negative regulation of sphingolipid biosynthetic process
GO:0090156 cellular sphingolipid homeostasis
GO:0090370 negative regulation of cholesterol efflux
GO:0099038 ceramide floppase activity
GO:0099040 ceramide translocation
GO:0150104 transport across blood-brain barrier
GO:0150110 negative regulation of cholesterol esterification
GO:1901873 regulation of post-translational protein modification
GO:1902004 positive regulation of amyloid-beta formation
GO:1902993 positive regulation of amyloid precursor protein catabolic process
GO:1904375 regulation of protein localization to cell periphery
GO:1905598 negative regulation of low-density lipoprotein receptor activity
GO:1905601 negative regulation of receptor-mediated endocytosis involved in cholesterol transport
GO:2000008 regulation of protein localization to cell surface

Subcellular Location

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Subcellular Location
Endosome membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR003439 ABC transporter-like, ATP-binding domainDomainDomain
IPR003593 AAA+ ATPase domainDomainDomain
IPR017871 ABC transporter-like, conserved siteSiteConserved site
IPR026082 ABC transporter AFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030366 ATP-binding cassette subfamily A member 2FamilyFamily

Diseases

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Disease IDSourceNameDescription
618808 OMIMIntellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA)An autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
ABCA2_HUMANCK5P2_HUMANBioGRID, HPRD, IntAct12421765 details
ABCA2_HUMANCAC1A_HUMANBioGRID, IntAct21078624 details
ABCA2_HUMANDRD2_HUMANBioGRID, MINT28298427 details
ABCA2_HUMAN5HT6R_HUMANBioGRID, MINT28298427 details