ABCA2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0060049Biological processregulation of protein glycosylation
GO_0032384Biological processnegative regulation of intracellular cholesterol transport
GO_0070723Biological processresponse to cholesterol
GO_0006687Biological processglycosphingolipid metabolic process
GO_0090370Biological processnegative regulation of cholesterol efflux
GO_0019218Biological processregulation of steroid metabolic process
GO_0001573Biological processganglioside metabolic process
GO_0006684Biological processsphingomyelin metabolic process
GO_0055085Biological processtransmembrane transport
GO_0150104Biological processtransport across blood-brain barrier
GO_1904375Biological processregulation of protein localization to cell periphery
GO_2000008Biological processregulation of protein localization to cell surface
GO_0032289Biological processcentral nervous system myelin formation
GO_1905598Biological processnegative regulation of low-density lipoprotein receptor activity
GO_0006869Biological processlipid transport
GO_0045939Biological processnegative regulation of steroid metabolic process
GO_0090156Biological processintracellular sphingolipid homeostasis
GO_1902004Biological processpositive regulation of amyloid-beta formation
GO_1902993Biological processpositive regulation of amyloid precursor protein catabolic process
GO_0046512Biological processsphingosine biosynthetic process
GO_1901873Biological processregulation of post-translational protein modification
GO_0032805Biological processpositive regulation of low-density lipoprotein particle receptor catabolic process
GO_0045540Biological processregulation of cholesterol biosynthetic process
GO_0048545Biological processresponse to steroid hormone
GO_0042986Biological processpositive regulation of amyloid precursor protein biosynthetic process
GO_0009410Biological processresponse to xenobiotic stimulus
GO_0006629Biological processlipid metabolic process
GO_1905601Biological processnegative regulation of receptor-mediated endocytosis involved in cholesterol transport
GO_0007626Biological processlocomotory behavior
GO_0032383Biological processregulation of intracellular cholesterol transport
GO_0042632Biological processcholesterol homeostasis
GO_0005886Cellular componentplasma membrane
GO_0031410Cellular componentcytoplasmic vesicle
GO_0016020Cellular componentmembrane
GO_0043190Cellular componentATP-binding cassette (ABC) transporter complex
GO_0005815Cellular componentmicrotubule organizing center
GO_0005764Cellular componentlysosome
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0010008Cellular componentendosome membrane
GO_0005768Cellular componentendosome
GO_0005765Cellular componentlysosomal membrane
GO_0140359Molecular functionABC-type transporter activity
GO_0099038Molecular functionceramide floppase activity
GO_0000166Molecular functionnucleotide binding
GO_0061135Molecular functionendopeptidase regulator activity
GO_0005524Molecular functionATP binding
GO_0005319Molecular functionlipid transporter activity
GO_0042626Molecular functionATPase-coupled transmembrane transporter activity
GO_0016887Molecular functionATP hydrolysis activity

IV. Literature review

[source]
Gene nameABCA2
Protein nameATP binding cassette subfamily A member 2
ATP-binding cassette sub-family A member 2 (EC 7.6.2.-) (ATP-binding cassette transporter 2) (ATP-binding cassette 2)
ABCA2 protein
ATP-binding cassette protein
ATP-binding cassette sub-family A member 2
SynonymsABC2
KIAA1062
DescriptionFUNCTION: Probable lipid transporter that modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis (Probable). May alter the transbilayer distribution of ceramide in the intraluminal membrane lipid bilayer, favoring its retention in the outer leaflet that results in increased acid ceramidase activity in the late endosome/lysosome, facilitating ceramide deacylation to sphingosine leading to the sequestration of free cholesterol in lysosomes . In addition regulates amyloid-beta production either by activating a signaling pathway that regulates amyloid precursor protein transcription through the modulation of sphingolipid metabolism or through its role in gamma-secretase processing of APP . May play a role in myelin formation (By similarity). .

AccessionsENST00000371605.7 [Q9BZC7-1]
H7C5M6
ENST00000490486.2
H0Y8C9
Q08EJ9
ENST00000614293
ENST00000341511.11 [Q9BZC7-3]
H0Y8E3
Q9BZC7
Q13039
Q96HC2
ENST00000488535.2
ENST00000479446.5
Q6P2G5
ENST00000614293.5 [Q9BZC7-4]
H0Y8D6
A0A087WXK5
ENST00000470535.2
ENST00000487109.5
E9PGB2