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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	11194
Gene name	ATP binding cassette subfamily B member 8
Gene symbol	ABCB8
Synonyms (NCBI Gene)	EST328128M-ABC1MABC1MITOSUR
Chromosome	7
Chromosome location	7q36.1
Summary	This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051898	hsa-let-7b-5p	CLASH	23622248
MIRT051898	hsa-let-7b-5p	CLASH	23622248
MIRT758214	hsa-miR-1245b-5p	CLIP-seq
MIRT758215	hsa-miR-1258	CLIP-seq
MIRT758216	hsa-miR-1291	CLIP-seq
MIRT758217	hsa-miR-1295	CLIP-seq
MIRT758218	hsa-miR-146b-3p	CLIP-seq
MIRT758219	hsa-miR-2861	CLIP-seq
MIRT758220	hsa-miR-296-5p	CLIP-seq
MIRT758221	hsa-miR-299-3p	CLIP-seq
MIRT758222	hsa-miR-3142	CLIP-seq
MIRT758223	hsa-miR-3147	CLIP-seq
MIRT758224	hsa-miR-3165	CLIP-seq
MIRT758225	hsa-miR-329	CLIP-seq
MIRT758226	hsa-miR-362-3p	CLIP-seq
MIRT758227	hsa-miR-3657	CLIP-seq
MIRT758228	hsa-miR-3691-5p	CLIP-seq
MIRT758229	hsa-miR-370	CLIP-seq
MIRT758230	hsa-miR-4265	CLIP-seq
MIRT758231	hsa-miR-4296	CLIP-seq
MIRT758232	hsa-miR-4322	CLIP-seq
MIRT758233	hsa-miR-4417	CLIP-seq
MIRT758234	hsa-miR-4425	CLIP-seq
MIRT758235	hsa-miR-4669	CLIP-seq
MIRT758236	hsa-miR-4731-5p	CLIP-seq
MIRT758237	hsa-miR-4762-5p	CLIP-seq
MIRT758238	hsa-miR-4764-5p	CLIP-seq
MIRT758239	hsa-miR-4772-3p	CLIP-seq
MIRT758240	hsa-miR-486-3p	CLIP-seq
MIRT758241	hsa-miR-661	CLIP-seq
MIRT758242	hsa-miR-891b	CLIP-seq
MIRT1923596	hsa-miR-103a	CLIP-seq
MIRT1923597	hsa-miR-107	CLIP-seq
MIRT1923598	hsa-miR-1184	CLIP-seq
MIRT1923599	hsa-miR-1202	CLIP-seq
MIRT1923600	hsa-miR-1205	CLIP-seq
MIRT1923601	hsa-miR-1265	CLIP-seq
MIRT1923602	hsa-miR-148a	CLIP-seq
MIRT1923603	hsa-miR-148b	CLIP-seq
MIRT1923604	hsa-miR-152	CLIP-seq
MIRT1923605	hsa-miR-198	CLIP-seq
MIRT1923606	hsa-miR-3124-3p	CLIP-seq
MIRT1923607	hsa-miR-3150a-3p	CLIP-seq
MIRT1923608	hsa-miR-3158-5p	CLIP-seq
MIRT1923609	hsa-miR-3169	CLIP-seq
MIRT1923610	hsa-miR-3175	CLIP-seq
MIRT1923611	hsa-miR-3194-5p	CLIP-seq
MIRT1923612	hsa-miR-331-3p	CLIP-seq
MIRT1923613	hsa-miR-3664-3p	CLIP-seq
MIRT1923614	hsa-miR-3689d	CLIP-seq
MIRT1923615	hsa-miR-3972	CLIP-seq
MIRT1923616	hsa-miR-423-3p	CLIP-seq
MIRT1923617	hsa-miR-4419a	CLIP-seq
MIRT1923618	hsa-miR-4436a	CLIP-seq
MIRT1923619	hsa-miR-4446-3p	CLIP-seq
MIRT1923620	hsa-miR-4468	CLIP-seq
MIRT1923621	hsa-miR-4510	CLIP-seq
MIRT1923622	hsa-miR-4519	CLIP-seq
MIRT1923623	hsa-miR-4656	CLIP-seq
MIRT1923624	hsa-miR-4707-5p	CLIP-seq
MIRT1923625	hsa-miR-4721	CLIP-seq
MIRT1923626	hsa-miR-4722-3p	CLIP-seq
MIRT1923627	hsa-miR-4728-5p	CLIP-seq
MIRT1923628	hsa-miR-4757-5p	CLIP-seq
MIRT758240	hsa-miR-486-3p	CLIP-seq
MIRT1923629	hsa-miR-510	CLIP-seq
MIRT1923630	hsa-miR-587	CLIP-seq
MIRT1923631	hsa-miR-654-3p	CLIP-seq
MIRT1923632	hsa-miR-885-5p	CLIP-seq
MIRT1923633	hsa-miR-939	CLIP-seq
MIRT2165072	hsa-miR-1193	CLIP-seq
MIRT2165073	hsa-miR-1262	CLIP-seq
MIRT2165074	hsa-miR-128	CLIP-seq
MIRT2165075	hsa-miR-1285	CLIP-seq
MIRT2165076	hsa-miR-1293	CLIP-seq
MIRT2165077	hsa-miR-135a	CLIP-seq
MIRT2165078	hsa-miR-135b	CLIP-seq
MIRT2165079	hsa-miR-1909	CLIP-seq
MIRT2165080	hsa-miR-1911	CLIP-seq
MIRT2165081	hsa-miR-1915	CLIP-seq
MIRT2165082	hsa-miR-2355-5p	CLIP-seq
MIRT2165083	hsa-miR-2467-5p	CLIP-seq
MIRT758219	hsa-miR-2861	CLIP-seq
MIRT2165084	hsa-miR-29a	CLIP-seq
MIRT2165085	hsa-miR-29b	CLIP-seq
MIRT2165086	hsa-miR-29c	CLIP-seq
MIRT2165087	hsa-miR-3120-3p	CLIP-seq
MIRT2165088	hsa-miR-3120-5p	CLIP-seq
MIRT2165089	hsa-miR-3136-5p	CLIP-seq
MIRT1923607	hsa-miR-3150a-3p	CLIP-seq
MIRT2165090	hsa-miR-3168	CLIP-seq
MIRT1923609	hsa-miR-3169	CLIP-seq
MIRT2165091	hsa-miR-3170	CLIP-seq
MIRT1923610	hsa-miR-3175	CLIP-seq
MIRT2165092	hsa-miR-3176	CLIP-seq
MIRT2165093	hsa-miR-3187-5p	CLIP-seq
MIRT2165094	hsa-miR-3188	CLIP-seq
MIRT2165095	hsa-miR-3202	CLIP-seq
MIRT2165096	hsa-miR-330-3p	CLIP-seq
MIRT2165097	hsa-miR-3612	CLIP-seq
MIRT2165098	hsa-miR-378g	CLIP-seq
MIRT2165099	hsa-miR-3914	CLIP-seq
MIRT2165100	hsa-miR-3922-3p	CLIP-seq
MIRT2165101	hsa-miR-3929	CLIP-seq
MIRT2165102	hsa-miR-3975	CLIP-seq
MIRT2165103	hsa-miR-409-5p	CLIP-seq
MIRT758230	hsa-miR-4265	CLIP-seq
MIRT2165104	hsa-miR-4267	CLIP-seq
MIRT758231	hsa-miR-4296	CLIP-seq
MIRT758232	hsa-miR-4322	CLIP-seq
MIRT758233	hsa-miR-4417	CLIP-seq
MIRT2165105	hsa-miR-4419b	CLIP-seq
MIRT2165106	hsa-miR-4439	CLIP-seq
MIRT2165107	hsa-miR-4478	CLIP-seq
MIRT2165108	hsa-miR-4481	CLIP-seq
MIRT2165109	hsa-miR-4483	CLIP-seq
MIRT2165110	hsa-miR-4486	CLIP-seq
MIRT2165111	hsa-miR-4502	CLIP-seq
MIRT2165112	hsa-miR-4513	CLIP-seq
MIRT2165113	hsa-miR-4533	CLIP-seq
MIRT2165114	hsa-miR-4640-5p	CLIP-seq
MIRT2165115	hsa-miR-4645-5p	CLIP-seq
MIRT2165116	hsa-miR-4646-3p	CLIP-seq
MIRT2165117	hsa-miR-4649-3p	CLIP-seq
MIRT2165118	hsa-miR-4673	CLIP-seq
MIRT2165119	hsa-miR-4680-5p	CLIP-seq
MIRT2165120	hsa-miR-4690-3p	CLIP-seq
MIRT2165121	hsa-miR-4701-3p	CLIP-seq
MIRT2165122	hsa-miR-4711-5p	CLIP-seq
MIRT2165123	hsa-miR-4726-3p	CLIP-seq
MIRT2165124	hsa-miR-4726-5p	CLIP-seq
MIRT1923627	hsa-miR-4728-5p	CLIP-seq
MIRT758236	hsa-miR-4731-5p	CLIP-seq
MIRT2165125	hsa-miR-4740-5p	CLIP-seq
MIRT2165126	hsa-miR-4745-5p	CLIP-seq
MIRT2165127	hsa-miR-4749-3p	CLIP-seq
MIRT1923628	hsa-miR-4757-5p	CLIP-seq
MIRT2165128	hsa-miR-4758-5p	CLIP-seq
MIRT2165129	hsa-miR-4780	CLIP-seq
MIRT2165130	hsa-miR-4802-5p	CLIP-seq
MIRT2165131	hsa-miR-485-5p	CLIP-seq
MIRT2165132	hsa-miR-491-5p	CLIP-seq
MIRT2165133	hsa-miR-541	CLIP-seq
MIRT2165134	hsa-miR-544b	CLIP-seq
MIRT2165135	hsa-miR-576-3p	CLIP-seq
MIRT2165136	hsa-miR-612	CLIP-seq
MIRT2165137	hsa-miR-623	CLIP-seq
MIRT2165138	hsa-miR-634	CLIP-seq
MIRT2165139	hsa-miR-650	CLIP-seq
MIRT2165140	hsa-miR-654-5p	CLIP-seq
MIRT758241	hsa-miR-661	CLIP-seq
MIRT2165141	hsa-miR-767-5p	CLIP-seq
MIRT2165142	hsa-miR-873	CLIP-seq
MIRT1923633	hsa-miR-939	CLIP-seq
MIRT2165092	hsa-miR-3176	CLIP-seq
MIRT2165100	hsa-miR-3922-3p	CLIP-seq
MIRT1923599	hsa-miR-1202	CLIP-seq
MIRT2442911	hsa-miR-3138	CLIP-seq
MIRT2442912	hsa-miR-3157-5p	CLIP-seq
MIRT2442913	hsa-miR-3158-3p	CLIP-seq
MIRT1923611	hsa-miR-3194-5p	CLIP-seq
MIRT1923615	hsa-miR-3972	CLIP-seq
MIRT2442914	hsa-miR-4691-3p	CLIP-seq
MIRT2442915	hsa-miR-4752	CLIP-seq
MIRT2442916	hsa-miR-4800-5p	CLIP-seq
MIRT758240	hsa-miR-486-3p	CLIP-seq

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Transcription factor	Regulation	Reference
SP1	Activation	21046154

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	25063848, 31435016
GO:0005524	Function	ATP binding	IDA	31435016
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	22655043
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	3145016
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006884	Process	Cell volume homeostasis	IDA	31435016
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	9878413
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	TAS	9878413
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0062157	Component	Mitochondrial ATP-gated potassium channel complex	IDA	31435016
GO:0062157	Component	Mitochondrial ATP-gated potassium channel complex	IEA
GO:0062157	Component	Mitochondrial ATP-gated potassium channel complex	IPI	31435016
GO:0071805	Process	Potassium ion transmembrane transport	IDA	31435016
GO:0140141	Process	Mitochondrial potassium ion transmembrane transport	IDA	31435016
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1990542	Process	Mitochondrial transmembrane transport	IEA

MIM	HGNC	e!Ensembl
605464	49	ENSG00000197150

Q9NUT2

Protein name

Mitochondrial potassium channel ATP-binding subunit (ATP-binding cassette sub-family B member 8, mitochondrial) (ABCB8) (Mitochondrial ATP-binding cassette 1) (M-ABC1) (Mitochondrial sulfonylurea-receptor) (MITOSUR)

Protein function

ATP-binding subunit of the mitochondrial ATP-gated potassium channel (mitoK(ATP)) (PubMed:31435016). Together with pore-forming subunit CCDC51/MITOK of the mitoK(ATP) channel, mediates ATP-dependent potassium currents across the mitochondrial in

PDB

5OCH , 7EHL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	148 → 425	ABC transporter transmembrane region	Family
PF00005	ABC_tran	490 → 640	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRNTWRNGKTGQLHKAEGEYSDGYRSSSLL
RAVAHLRSQLWAHLPRAPLAPRWSPSAWCWVGGALLGPMVLSKHPHLCLVALCEAEEAPP
ASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVVLALGAALVNVQIPLLLGQLVEVVAKYT
RDHVGSFMTESQNLSTHLLILYGVQGLLTFGYLVLLSHVGERMAVDMRRALFSSLLRQDI
TFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMV
ATPALMGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAE
LEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSLVAGQQLTGGDLMSFLVASQT
VQRSMANLSVLFGQVVRGLSAGARVFEYMALNPCIPLSGGCCVPKEQLRGSVTFQNVCFS
YPCRPGFEVLKDFTLTLPPGKIVALVGQSGGGKTTVASLLERFYDPTAGVVMLDGRDLRT
LDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFPEG
YNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAESERVVQEALDRASAG
RTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLKKGGLYAELIRRQALDAPRTAAP
PPKKPEGPRSHQHKS

Sequence length

735

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 (1)

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.
THYROID NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19147539, 21046154		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	19147539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19147539, 28293855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCB8 (ATP binding cassette subfamily B member 8)