ABCB8

Summary

ABCB8 (ATP binding cassette subfamily B member 8, HGNC:49) is a protein-coding gene on chromosome 7q36.1, encoding Mitochondrial potassium channel ATP-binding subunit (Q9NUT2). ATP-binding subunit of the mitochondrial ATP-gated potassium channel (mitoK(ATP)).

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 of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 11194 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 199 total — 36 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_007188

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49
Approved symbol	ABCB8
Name	ATP binding cassette subfamily B member 8
Location	7q36.1
Locus type	gene with protein product
Status	Approved
Aliases	EST328128, M-ABC1, MABC1, MITOSUR
Ensembl gene	ENSG00000197150
Ensembl biotype	protein_coding
OMIM	605464
Entrez	11194

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 12 protein_coding, 7 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay, 2 retained_intron

ENST00000297504, ENST00000358849, ENST00000461373, ENST00000462605, ENST00000466514, ENST00000466956, ENST00000469410, ENST00000470645, ENST00000471796, ENST00000472698, ENST00000477092, ENST00000477719, ENST00000482309, ENST00000482899, ENST00000488370, ENST00000488551, ENST00000488826, ENST00000489192, ENST00000491920, ENST00000493338, ENST00000498578, ENST00000542328, ENST00000879589, ENST00000879590, ENST00000879591, ENST00000879592

RefSeq mRNA: 4 — MANE Select: NM_007188 NM_001282291, NM_001282292, NM_001282293, NM_007188

CCDS: CCDS5913, CCDS64798, CCDS64799, CCDS64800

Canonical transcript exons

ENST00000358849 — 16 exons

Exon	Start	End
ENSE00001598333	151045209	151047782
ENSE00003473911	151033605	151033917
ENSE00003474579	151036073	151036170
ENSE00003489398	151034505	151034599
ENSE00003499684	151028450	151028610
ENSE00003506258	151036544	151036649
ENSE00003554219	151041099	151041232
ENSE00003576834	151034273	151034428
ENSE00003582772	151040498	151040634
ENSE00003586245	151041961	151042108
ENSE00003592541	151043971	151044221
ENSE00003595479	151040268	151040301
ENSE00003609567	151034724	151034829
ENSE00003609699	151035882	151035967
ENSE00003642769	151035581	151035742
ENSE00003675824	151040828	151040922

Expression profiles

Bgee: expression breadth ubiquitous, 197 present calls, max score 93.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.2827 / max 229.3342, expressed in 1807 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
82034	15.4224	1802
82035	2.8603	1418

Top tissues by expression

252 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	93.50	gold quality
apex of heart	UBERON:0002098	92.64	gold quality
right adrenal gland	UBERON:0001233	92.50	gold quality
right adrenal gland cortex	UBERON:0035827	92.32	gold quality
right lobe of thyroid gland	UBERON:0001119	92.10	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.03	gold quality
adenohypophysis	UBERON:0002196	91.68	gold quality
left adrenal gland	UBERON:0001234	91.64	gold quality
left adrenal gland cortex	UBERON:0035825	91.26	gold quality
left lobe of thyroid gland	UBERON:0001120	90.99	gold quality
cerebellar hemisphere	UBERON:0002245	90.85	gold quality
cerebellar cortex	UBERON:0002129	90.74	gold quality
right frontal lobe	UBERON:0002810	90.54	gold quality
body of uterus	UBERON:0009853	90.46	gold quality
granulocyte	CL:0000094	90.35	gold quality
pituitary gland	UBERON:0000007	90.31	gold quality
metanephros cortex	UBERON:0010533	89.82	gold quality
mucosa of transverse colon	UBERON:0004991	89.77	gold quality
right lobe of liver	UBERON:0001114	89.44	gold quality
thyroid gland	UBERON:0002046	89.34	gold quality
anterior cingulate cortex	UBERON:0009835	88.97	gold quality
adrenal cortex	UBERON:0001235	88.86	gold quality
right ovary	UBERON:0002118	88.83	gold quality
adrenal gland	UBERON:0002369	88.79	gold quality
left ovary	UBERON:0002119	88.77	gold quality
right uterine tube	UBERON:0001302	88.74	gold quality
endocervix	UBERON:0000458	88.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.46	gold quality
cerebellum	UBERON:0002037	88.33	gold quality
esophagus mucosa	UBERON:0002469	88.28	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.02
E-GEOD-124858	no	66.14

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

89 targeting ABCB8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-1249-5P	99.61	66.55	2049

Literature-anchored findings (GeneRIF, showing 4)

• ABCB8 confers resistance through the protection of mitochondrial DNA from doxorubicin-induced DNA damage in a melanoma cell line. (PMID:19147539)
• mutations in ABCB8 and ABCB10 is not associated with acute myeloid leukemia. (PMID:19151771)
• Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8. (PMID:33835027)
• Cryo-EM structure of human ABCB8 transporter in nucleotide binding state. (PMID:33872987)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	abcb8	ENSDARG00000056672
mus_musculus	Abcb8	ENSMUSG00000028973
rattus_norvegicus	Abcb8	ENSRNOG00000008557
caenorhabditis_elegans		WBGENE00001817
caenorhabditis_elegans		WBGENE00001818
caenorhabditis_elegans		WBGENE00003995
caenorhabditis_elegans		WBGENE00004000
caenorhabditis_elegans		WBGENE00004001
caenorhabditis_elegans		WBGENE00004002
caenorhabditis_elegans		WBGENE00004003
caenorhabditis_elegans		WBGENE00004006
caenorhabditis_elegans		WBGENE00004008

Paralogs (10): ABCB5 (ENSG00000004846), ABCB4 (ENSG00000005471), ABCB11 (ENSG00000073734), ABCB1 (ENSG00000085563), ABCB6 (ENSG00000115657), ABCB7 (ENSG00000131269), ABCB10 (ENSG00000135776), ABCB9 (ENSG00000150967), TAP1 (ENSG00000168394), TAP2 (ENSG00000204267)

Protein

Protein identifiers

Mitochondrial potassium channel ATP-binding subunit — Q9NUT2 (reviewed: Q9NUT2)

Alternative names: ATP-binding cassette sub-family B member 8, mitochondrial, Mitochondrial ATP-binding cassette 1, Mitochondrial sulfonylurea-receptor

All UniProt accessions (8): C9JA03, C9JTY4, C9JYI3, F2Z2Z1, F2Z3G8, F8WC43, Q9NUT2, H7C5K9

UniProt curated annotations — full annotation on UniProt →

Function. ATP-binding subunit of the mitochondrial ATP-gated potassium channel (mitoK(ATP)). Together with pore-forming subunit CCDC51/MITOK of the mitoK(ATP) channel, mediates ATP-dependent potassium currents across the mitochondrial inner membrane. An increase in ATP intracellular levels closes the channel, inhibiting K(+) transport, whereas a decrease in ATP levels enhances K(+) uptake in the mitochondrial matrix. Plays a role in mitochondrial iron transport. Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes.

Subunit / interactions. The mitochondrial potassium channel (mitoK(ATP)) is composed of 4 subunits of CCDC51/MITOK and 4 subunits of ABCB8/MITOSUR. Interacts with C10orf88/PAAT. Interacts with NRP1; NRP1 regulates ABCB8/MITOSUR protein levels in mitochondria.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Ubiquitous.

Activity regulation. Channel activity inhibited by ATP via ABCB8/MITOSUR subunit.

Induction. SP1 transcription factor binds to the ABCB8 core promoter region, possibly regulating its transcription.

Similarity. Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9NUT2-1	1, Long	yes
Q9NUT2-2	2, Short
Q9NUT2-3	3
Q9NUT2-4	4
Q9NUT2-5	5

RefSeq proteins (4): NP_001269220, NP_001269221, NP_001269222, NP_009119* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR011527	ABC1_TM_dom	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036640	ABC1_TM_sf	Homologous_superfamily
IPR039421	Type_1_exporter	Family

Pfam: PF00005, PF00664

Enzyme classification (BRENDA):

• EC 7.4.2.5 — bacterial ABC-type protein transporter (BRENDA: 33 organisms, 105 substrates, 44 inhibitors, 13 Km, 10 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.05–2.33	11
RRYNASTEL	0.0006	1
RRYQKSTEL	0.0002	1

UniProt features (75 total): helix 25, strand 12, sequence conflict 8, turn 8, splice variant 4, topological domain 4, sequence variant 3, transmembrane region 3, domain 2, mutagenesis site 2, transit peptide 1, chain 1, region of interest 1, binding site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5OCH	X-RAY DIFFRACTION	3.4
7EHL	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NUT2-F1	78.01	0.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 507–514

Mutagenesis-validated functional residues (2):

Position	Phenotype
512–513	renders the protein unstable.
513	abolish binding to atp.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1369007	Mitochondrial ABC transporters
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport

MSigDB gene sets: 142 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, KEGG_ABC_TRANSPORTERS, MARTINEZ_RB1_TARGETS_UP, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, MODULE_256, GOBP_REGULATION_OF_CELL_SIZE, GOCC_MITOCHONDRIAL_ENVELOPE, TGACATY_UNKNOWN, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, GOBP_CELL_VOLUME_HOMEOSTASIS, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOBP_TRANSMEMBRANE_TRANSPORT, GRADE_COLON_AND_RECTAL_CANCER_UP, GOCC_POTASSIUM_CHANNEL_COMPLEX

GO Biological Process (7): cell volume homeostasis (GO:0006884), transmembrane transport (GO:0055085), potassium ion transmembrane transport (GO:0071805), mitochondrial potassium ion transmembrane transport (GO:0140141), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), mitochondrial transmembrane transport (GO:1990542)

GO Molecular Function (6): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ATPase-coupled transmembrane transporter activity (GO:0042626), ABC-type transporter activity (GO:0140359), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (8): nucleoplasm (GO:0005654), nucleolus (GO:0005730), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020), mitochondrial membrane (GO:0031966), ATP-binding cassette (ABC) transporter complex (GO:0043190), mitochondrial ATP-gated potassium channel complex (GO:0062157)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
ABC-family protein mediated transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
ATP-dependent activity	2
nuclear lumen	2
cellular anatomical structure	2
regulation of cell size	1
cellular homeostasis	1
cellular process	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
potassium ion transmembrane transport	1
metal ion transport	1
mitochondrial transport	1
transmembrane transport	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
primary active transmembrane transporter activity	1
ATP hydrolysis activity	1
ATPase-coupled transmembrane transporter activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1
ATPase dependent transmembrane transport complex	1
plasma membrane protein complex	1
potassium channel complex	1

Protein interactions and networks

STRING

2068 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCB8	CCDC51	Q96ER9	930
ABCB8	SLC25A28	Q96A46	821
ABCB8	SLC25A37	Q9NYZ2	769
ABCB8	ABCE1	P61221	575
ABCB8	KCNJ1	P48048	556
ABCB8	ABCF2	Q9UG63	548
ABCB8	FXN	Q16595	482
ABCB8	ABCF3	Q9NUQ8	457
ABCB8	FECH	P22830	452
ABCB8	MCU	Q8NE86	431
ABCB8	FLVCR1	Q9Y5Y0	431
ABCB8	ABCF1	Q8NE71	417
ABCB8	ACO1	P21399	400
ABCB8	SLC40A1	Q9NP59	399
ABCB8	CLEC5A	Q9NY25	398

IntAct

55 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
ABCB8	rep	psi-mi:“MI:0915”(physical association)	0.550
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
SLC15A1	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
VSIG1	TNPO2	psi-mi:“MI:0914”(association)	0.530
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
TMEM171	THAP12	psi-mi:“MI:0914”(association)	0.530
STS	GJA1	psi-mi:“MI:0914”(association)	0.530
ABCB8	CCDC51	psi-mi:“MI:0915”(physical association)	0.520
rep	GPR89A	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350
AVPR2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CMTM5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
CLEC2D	TMEM120B	psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HIDE1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
ATP2A1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
LRCH1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CD80	POTEF	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
AQP3	RTL8C	psi-mi:“MI:0914”(association)	0.350
FPR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
SPPL2B	GPR89A	psi-mi:“MI:0914”(association)	0.350
SLC5A4	GPR89A	psi-mi:“MI:0914”(association)	0.350

BioGRID (80): ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS), ABCB8 (Affinity Capture-MS)

ESM2 similar proteins: A0A125QXJ1, B2GUP8, B5X0E4, B8K1W2, E7F6F7, F1M3J4, H2LNR5, O14286, O70127, O70595, O75027, O95342, P0CL92, P0CL93, P21958, P33310, P36370, P36371, P36372, Q00449, Q0WML0, Q2SIN5, Q4WPP6, Q56A55, Q5B1Q2, Q5RFQ9, Q5RKI8, Q61102, Q6YUU5, Q704E8, Q751N2, Q8LPQ6, Q8RY46, Q9CXJ4, Q9DC29, Q9FNU2, Q9FWX7, Q9FWX8, Q9JI39, Q9JJ59

Diamond homologs: A0A059JJ46, A0A059JK44, A0A095C325, A0A0D1BUH6, A0A1U8QG99, A0A1U9YI12, A0A2P1AAV1, A0A348AXX9, A1KF14, B2GUP8, B2KWH4, B5X0E4, B8K1W2, F2PRR1, F2Q5G0, F2RP52, F2RPA4, F2SQT8, F2T1C4, G5EG61, H6TB12, J9VF33, K3VYH8, O53645, O70127, O80725, O95342, P06795, P08183, P0CU83, P16875, P16876, P16877, P21439, P21440, P21447, P21448, P21449, P23174, P34712

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
SLC-mediated transmembrane transport	11	13.3×	7e-08
Transport of small molecules	13	6.7×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

199 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	36
Likely pathogenic	3
Uncertain significance	114
Likely benign	11
Benign	8

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	Pathogenic
1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	Pathogenic
1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	Pathogenic
1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	Pathogenic
146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	Pathogenic
146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	Pathogenic
147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	Pathogenic
148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	Pathogenic
148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	Pathogenic
148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	Pathogenic
154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	Pathogenic
155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	Pathogenic
1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	Pathogenic
226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	Pathogenic
2425237	NC_000007.13:g.(?150324807)(152373164_?)del	Pathogenic
2427458	NC_000007.13:g.(?150307047)(152613597_?)del	Pathogenic
2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	Pathogenic
2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	Pathogenic
2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	Pathogenic
3245697	NC_000007.13:g.(?150643945)(151573705_?)del	Pathogenic
3391847	GRCh37/hg19 7q34-36.3(chr7:142491993-159119707)x3	Pathogenic
3391899	GRCh37/hg19 7q35-36.3(chr7:147773827-159119707)x1	Pathogenic
393748	GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3	Pathogenic
441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	Pathogenic
442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	Pathogenic
442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	Pathogenic
563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	Pathogenic
57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	Pathogenic
57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	Pathogenic
59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	Pathogenic

SpliceAI

2667 predictions. Top by Δscore:

Variant	Effect	Δscore
7:151031292:G:GG	donor_gain	1.0000
7:151034269:CCAG:C	acceptor_loss	1.0000
7:151034270:CAG:C	acceptor_loss	1.0000
7:151034271:A:AG	acceptor_gain	1.0000
7:151034271:AGCT:A	acceptor_gain	1.0000
7:151034272:G:GG	acceptor_gain	1.0000
7:151034272:GCTG:G	acceptor_gain	1.0000
7:151034367:G:GT	donor_gain	1.0000
7:151034499:TCGCA:T	acceptor_loss	1.0000
7:151034500:CGCAG:C	acceptor_loss	1.0000
7:151034501:GCA:G	acceptor_loss	1.0000
7:151034502:CAGGG:C	acceptor_loss	1.0000
7:151034503:A:C	acceptor_loss	1.0000
7:151034504:G:A	acceptor_loss	1.0000
7:151034616:G:GT	donor_gain	1.0000
7:151034702:A:AG	acceptor_gain	1.0000
7:151034702:ATT:A	acceptor_gain	1.0000
7:151034702:ATTG:A	acceptor_gain	1.0000
7:151034703:T:G	acceptor_gain	1.0000
7:151034704:T:A	acceptor_gain	1.0000
7:151034705:G:A	acceptor_gain	1.0000
7:151034711:T:TA	acceptor_gain	1.0000
7:151034718:T:G	acceptor_gain	1.0000
7:151034718:T:TA	acceptor_gain	1.0000
7:151034720:CCA:C	acceptor_loss	1.0000
7:151034722:A:AG	acceptor_gain	1.0000
7:151034723:G:GG	acceptor_gain	1.0000
7:151034723:G:GT	acceptor_loss	1.0000
7:151034723:GAC:G	acceptor_gain	1.0000
7:151034723:GACAA:G	acceptor_gain	1.0000

AlphaMissense

4584 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:151036613:T:C	L411P	0.998
7:151044022:C:A	A623D	0.998
7:151035590:A:C	S276R	0.997
7:151035592:C:A	S276R	0.997
7:151035592:C:G	S276R	0.997
7:151036621:T:C	F414L	0.997
7:151036623:C:A	F414L	0.997
7:151036623:C:G	F414L	0.997
7:151041996:C:A	N568K	0.997
7:151041996:C:G	N568K	0.997
7:151042054:G:C	A588P	0.997
7:151044008:G:C	Q618H	0.997
7:151044008:G:T	Q618H	0.997
7:151034505:G:A	G206R	0.996
7:151034505:G:C	G206R	0.996
7:151036633:T:C	S418P	0.996
7:151042046:C:A	A585D	0.996
7:151035581:G:A	G273R	0.995
7:151035581:G:C	G273R	0.995
7:151036169:C:A	N387K	0.995
7:151036169:C:G	N387K	0.995
7:151036625:T:C	L415P	0.995
7:151044021:G:C	A623P	0.995
7:151044025:G:C	R624P	0.995
7:151035609:G:A	G282D	0.994
7:151035611:T:C	C283R	0.994
7:151036613:T:A	L411H	0.994
7:151036630:G:C	A417P	0.994
7:151042069:T:C	F593L	0.994
7:151042071:C:A	F593L	0.994

dbSNP variants (sampled 300 via entrez): RS1000015650 (7:151038764 G>A,T), RS1000112131 (7:151028344 G>A,T), RS1000150499 (7:151042271 G>A), RS1000161765 (7:151038123 G>A,C,T), RS1000558146 (7:151026636 C>T), RS1000578005 (7:151032331 G>A), RS1000630447 (7:151032531 T>G), RS1000850187 (7:151027847 T>A), RS1001094717 (7:151037334 T>C), RS1001389994 (7:151047280 C>A,T), RS1001399033 (7:151026694 G>A,T), RS1001517965 (7:151042609 T>C), RS1001587771 (7:151031176 C>A,G,T), RS1001689275 (7:151037700 C>G), RS1001737958 (7:151047019 C>A,T)

Disease associations

OMIM: gene MIM:605464 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): neurodevelopmental disorder (MONDO:0700092), long QT syndrome (MONDO:0002442)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003476_9	Eyebrow thickness	7.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCB subfamily

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol S	affects expression, increases expression	2
GSK-J4	decreases expression	1
bisphenol A	increases expression	1
beta-lapachone	decreases expression, increases expression	1
sodium arsenite	increases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
AC 93253	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	decreases expression	1
bisphenol AF	increases expression	1
Docetaxel	decreases expression, decreases response to substance	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_XK95	HAP1 ABCB8 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

268 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT01648205	PHASE2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	PHASE2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	PHASE2	COMPLETED	Mutation-specific Therapy for the Long QT Syndrome
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT00316459	PHASE1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	PHASE1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	PHASE1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	PHASE1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial