Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	10351
Gene name	ATP binding cassette subfamily A member 8
Gene symbol	ABCA8
Synonyms (NCBI Gene)	-
Chromosome	17
Chromosome location	17q24.2
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 s

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004151	hsa-miR-192-5p	Microarray	16822819
MIRT017399	hsa-miR-335-5p	Microarray	18185580
MIRT757982	hsa-miR-3170	CLIP-seq
MIRT757983	hsa-miR-338-5p	CLIP-seq
MIRT757984	hsa-miR-4260	CLIP-seq
MIRT757985	hsa-miR-548k	CLIP-seq
MIRT757986	hsa-miR-548n	CLIP-seq
MIRT757987	hsa-miR-873	CLIP-seq
MIRT1923575	hsa-miR-4504	CLIP-seq
MIRT1923576	hsa-miR-4789-5p	CLIP-seq
MIRT1923576	hsa-miR-4789-5p	CLIP-seq
MIRT1923576	hsa-miR-4789-5p	CLIP-seq
MIRT2466980	hsa-miR-1224-3p	CLIP-seq
MIRT2466981	hsa-miR-1260	CLIP-seq
MIRT2466982	hsa-miR-1260b	CLIP-seq
MIRT2466983	hsa-miR-1280	CLIP-seq
MIRT2466984	hsa-miR-183	CLIP-seq
MIRT2466985	hsa-miR-1912	CLIP-seq
MIRT2466986	hsa-miR-3065-3p	CLIP-seq
MIRT2466987	hsa-miR-3121-3p	CLIP-seq
MIRT2466988	hsa-miR-3130-5p	CLIP-seq
MIRT2466989	hsa-miR-3163	CLIP-seq
MIRT2466990	hsa-miR-3686	CLIP-seq
MIRT2466991	hsa-miR-369-3p	CLIP-seq
MIRT2466992	hsa-miR-374a	CLIP-seq
MIRT2466993	hsa-miR-374b	CLIP-seq
MIRT2466994	hsa-miR-4263	CLIP-seq
MIRT2466995	hsa-miR-4482	CLIP-seq
MIRT2466996	hsa-miR-4496	CLIP-seq
MIRT1923575	hsa-miR-4504	CLIP-seq
MIRT2466997	hsa-miR-4652-3p	CLIP-seq
MIRT2466998	hsa-miR-4773	CLIP-seq
MIRT2466999	hsa-miR-4799-5p	CLIP-seq
MIRT2467000	hsa-miR-532-3p	CLIP-seq
MIRT2467001	hsa-miR-548c-3p	CLIP-seq
MIRT2467002	hsa-miR-548l	CLIP-seq
MIRT2467003	hsa-miR-576-5p	CLIP-seq
MIRT2467004	hsa-miR-589	CLIP-seq
MIRT2466980	hsa-miR-1224-3p	CLIP-seq
MIRT2466981	hsa-miR-1260	CLIP-seq
MIRT2466982	hsa-miR-1260b	CLIP-seq
MIRT2466983	hsa-miR-1280	CLIP-seq
MIRT2466984	hsa-miR-183	CLIP-seq
MIRT2466985	hsa-miR-1912	CLIP-seq
MIRT2466986	hsa-miR-3065-3p	CLIP-seq
MIRT2466987	hsa-miR-3121-3p	CLIP-seq
MIRT2466988	hsa-miR-3130-5p	CLIP-seq
MIRT2466990	hsa-miR-3686	CLIP-seq
MIRT2466991	hsa-miR-369-3p	CLIP-seq
MIRT2466992	hsa-miR-374a	CLIP-seq
MIRT2466993	hsa-miR-374b	CLIP-seq
MIRT2466994	hsa-miR-4263	CLIP-seq
MIRT2466995	hsa-miR-4482	CLIP-seq
MIRT1923575	hsa-miR-4504	CLIP-seq
MIRT2466997	hsa-miR-4652-3p	CLIP-seq
MIRT2466998	hsa-miR-4773	CLIP-seq
MIRT2466999	hsa-miR-4799-5p	CLIP-seq
MIRT2467000	hsa-miR-532-3p	CLIP-seq
MIRT2467001	hsa-miR-548c-3p	CLIP-seq
MIRT2467003	hsa-miR-576-5p	CLIP-seq
MIRT2467004	hsa-miR-589	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005319	Function	Lipid transporter activity	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	28882873
GO:0005886	Component	Plasma membrane	IDA	28882873, 29300488
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006686	Process	Sphingomyelin biosynthetic process	IMP	23560799
GO:0006855	Process	Xenobiotic transmembrane transport	IDA	12379217
GO:0006869	Process	Lipid transport	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IDA	12379217
GO:0008559	Function	ABC-type xenobiotic transporter activity	IMP	12379217
GO:0010874	Process	Regulation of cholesterol efflux	IMP	28882873
GO:0010875	Process	Positive regulation of cholesterol efflux	IMP	23560799
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030301	Process	Cholesterol transport	IMP	29300488
GO:0030301	Process	Cholesterol transport	ISS
GO:0033344	Process	Cholesterol efflux	IMP	29300488
GO:0033344	Process	Cholesterol efflux	ISS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS
GO:0042908	Process	Xenobiotic transport	IMP	12379217
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0140359	Function	ABC-type transporter activity	IMP	29300488
GO:0140359	Function	ABC-type transporter activity	ISS

MIM	HGNC	e!Ensembl
612505	38	ENSG00000141338

O94911

Protein name

ABC-type organic anion transporter ABCA8 (EC 7.6.2.-) (ATP-binding cassette sub-family A member 8)

Protein function

[Isoform 1]: Catalyzes ATP-dependent import of organic anions such as taurocholate and estrone sulfate (PubMed:12379217). In vitro, also imports ochratoxin A (PubMed:12379217). Also mediates cholesterol efflux independent of apolipoprotein, and

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12698	ABC2_membrane_3	28 → 418		Family
PF00005	ABC_tran	499 → 654	ABC transporter	Domain
PF12698	ABC2_membrane_3	869 → 1177		Family
PF00005	ABC_tran	1266 → 1406	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with higher expression in heart, skeletal muscle and liver (PubMed:12379217, PubMed:28882873, PubMed:29300488). Highly expressed in the superior frontal white matter and inferior temporal white matter (PubMed:12379217)

Sequence

MRKRKISVCQQTWALLCKNFLKKWRMKRESLMEWLNSLLLLLCLYIYPHSHQVNDFSSLL
TMDLGRVDTFNESRFSVVYTPVTNTTQQIMNKVASTPFLAGKEVLGLPDEESIKEFTANY
PEEIVRVTFTNTYSYHLKFLLGHGMPAKKEHKDHTAHCYETNEDVYCEVSVFWKEGFVAL
QAAINAAIIEITTNHSVMEELMSVTGKNMKMHSFIGQSGVITDLYLFSCIISFSSFIYYA
SVNVTRERKRMKALMTMMGLRDSAFWLSWGLLYAGFIFIMALFLALVIRSTQFIILSGFM
VVFSLFLLYGLSLVALAFLMSILVKKSFLTGLVVFLLTVFWGCLGFTSLYRHLPASLEWI
LSLLSPFAFMLGMAQLLHLDYDLNSNAFPHPSDGSNLIVATNFMLAFDTCLYLALAIYFE
KILPNEYGHRRPPLFFLKSSFWSQTQKTDHVALEDEMDADPSFHDSFEQAPPEFQGKEAI
RIRNVTKEYKGKPDKIEALKDLVFDIYEGQITAILGHSGAGKSTLLNILSGLSVPTKGSV
TIYNNKLSEMADLENLSKLTGVCPQSNVQFDFLTVRENLRLFAKIKGILPQEVDKEIQRV
LLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQIFLLDEPTAGLDPFSRHQVWNLLK
ERKTDRVILFSTQFMDEADILADRKVFLSQGKLKCAGSSLFLKKKWGIGYHLSLQLNEIC
VEENITSLVKQHIPDAKLSAKSEGKLIYTLPLERTNKFPELYKDLDSYPDLGIENYGVSM
TTLNEVFLKLEGKSTINESDIAILGEVQAEKADDTERLVEMEQVLSSLNKMRKTIGGVAL
WRQQICAIARVRLLKLKHERKALLALLLILMAGFCPLLVEYTMVKIYQNSYTWELSPHLY
FLAPGQQPHDPLTQLLIINKTGASIDDFIQSVEHQNIALEVDAFGTRNGTDDPSYNGAIT
VCCNEKNYSFSLACNAKRLNCFPVLMDIVSNGLLGMVKPSVHIRTERSTFLENGQDNPIG
FLAYIMFWLVLTSSCPPYIAMSSIDDYKNRARSQLRISGLSPSAYWFGQALVDVSLYFLV
FVFIYLMSYISNFEDMLLTIIHIIQIPCAVGYSFSLIFMTYVISFIFRKGRKNSGIWSFC
FYVVTVFSVAGFAFSIFESDIPFIFTFLIPPATMIGCLFLSSHLLFSSLFSEERMDVQPF
LVFLIPFLHFIIFLFTLRCLEWKFGKKSMRKDPFFRISPRSSDVCQNPEEPEGEDEDVQM
ERVRTANALNSTNFDEKPVIIASCLRKEYAGKRKGCFSKRKNKIATRNVSFCVRKGEVLG
LLGHNGAGKSTSIKVITGDTKPTAGQVLLKGSGGGDALEFLGYCPQENALWPNLTVRQHL
EVYAAVKGLRKGDAEVAITRLVDALKLQDQLKSPVKTLSEGIKRKLCFVLSILGNPSVVL
LDEPSTGMDPEGQQQMWQAIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIG
SIQHLKSKFGKDYLLEMKVKNLAQVEPLHAEILRLFPQAARQERYSSLMVYKLPVEDVQP
LAQAFFKLEKVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDFEEDFDPSVKWKLLPQEE
P

Sequence length

1621

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Thyroid cancer, nonmedullary, 1	Benign	rs184510635	RCV005905181

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	24890784
Carcinoma Non Small Cell Lung	Associate	36202977
Esophageal Squamous Cell Carcinoma	Associate	26004606
Fibroadenoma	Associate	26961242
Focal Cortical Dysplasia	Associate	34301297
Focal cortical dysplasia of Taylor	Associate	34301297
Multiple System Atrophy	Associate	23948991
Osteosarcoma	Inhibit	38315381
Ovarian Neoplasms	Associate	24957074
Phyllodes Tumor	Associate	26961242
Prostatic Neoplasms	Associate	26459268
Squamous Cell Carcinoma of Head and Neck	Inhibit	18254958
Stomach Neoplasms	Associate	32685482

ABCA8 (ATP binding cassette subfamily A member 8)