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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Diseases	Cerebellar Diseases	BEFREE	23948991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	23948991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26004606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	25399406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	34301297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	34301297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21159167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	23948991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24957074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	38315381	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24957074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26459268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18254958	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32685482	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCA8 (ATP binding cassette subfamily A member 8)