ABCB9

Summary

ABCB9 (ATP binding cassette subfamily B member 9, HGNC:50) is a protein-coding gene on chromosome 12q24.31, encoding ABC-type oligopeptide transporter ABCB9 (Q9NP78). ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen for degradation.

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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities.

Source: NCBI Gene 23457 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 171 total
• Druggable target: yes
• MANE Select transcript: NM_019625

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:50
Approved symbol	ABCB9
Name	ATP binding cassette subfamily B member 9
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	EST122234
Ensembl gene	ENSG00000150967
Ensembl biotype	protein_coding
OMIM	605453
Entrez	23457

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 21 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000280560, ENST00000344275, ENST00000346530, ENST00000392439, ENST00000426173, ENST00000442833, ENST00000536976, ENST00000537276, ENST00000538895, ENST00000540285, ENST00000540971, ENST00000541424, ENST00000541983, ENST00000542448, ENST00000542678, ENST00000543935, ENST00000545373, ENST00000546077, ENST00000546289, ENST00000622723, ENST00000873038, ENST00000873039, ENST00000873040, ENST00000923040, ENST00000923041, ENST00000947336

RefSeq mRNA: 5 — MANE Select: NM_019625 NM_001243013, NM_001243014, NM_019624, NM_019625, NM_203444

CCDS: CCDS58286, CCDS58287, CCDS58288, CCDS9241

Canonical transcript exons

ENST00000280560 — 12 exons

Exon	Start	End
ENSE00002221344	122966287	122966463
ENSE00002400893	122932192	122932328
ENSE00002620540	122959635	122960322
ENSE00003502896	122948624	122948829
ENSE00003550749	122950451	122950565
ENSE00003589949	122940111	122940284
ENSE00003595346	122940807	122940995
ENSE00003619525	122946025	122946222
ENSE00003658889	122949788	122949918
ENSE00003663350	122935272	122935431
ENSE00003715644	122928992	122930171
ENSE00003789807	122944391	122944519

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 90.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.6005 / max 53.8047, expressed in 1699 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133867	2.4090	1222
133869	1.6933	1216
133865	0.6428	311
133868	0.6184	318
133866	0.2371	92

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
type B pancreatic cell	CL:0000169	90.23	silver quality
buccal mucosa cell	CL:0002336	88.42	silver quality
superficial temporal artery	UBERON:0001614	88.10	silver quality
olfactory bulb	UBERON:0002264	87.26	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	86.69	silver quality
right frontal lobe	UBERON:0002810	86.49	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	86.40	gold quality
male germ cell	CL:0000015	86.26	silver quality
right hemisphere of cerebellum	UBERON:0014890	86.23	gold quality
sperm	CL:0000019	86.15	silver quality
oocyte	CL:0000023	86.00	gold quality
cerebellar hemisphere	UBERON:0002245	85.92	gold quality
cerebellar cortex	UBERON:0002129	85.88	gold quality
prefrontal cortex	UBERON:0000451	85.27	gold quality
gingival epithelium	UBERON:0001949	84.78	silver quality
cerebellum	UBERON:0002037	84.63	gold quality
ventral tegmental area	UBERON:0002691	84.42	gold quality
frontal cortex	UBERON:0001870	84.37	gold quality
cardia of stomach	UBERON:0001162	83.99	silver quality
left testis	UBERON:0004533	83.85	gold quality
neocortex	UBERON:0001950	83.84	gold quality
right testis	UBERON:0004534	83.75	gold quality
subthalamic nucleus	UBERON:0001906	83.64	silver quality
Brodmann (1909) area 9	UBERON:0013540	83.63	gold quality
left ventricle myocardium	UBERON:0006566	83.30	gold quality
vena cava	UBERON:0004087	83.26	silver quality
cingulate cortex	UBERON:0003027	83.19	gold quality
primary visual cortex	UBERON:0002436	83.15	gold quality
diaphragm	UBERON:0001103	83.09	gold quality
anterior cingulate cortex	UBERON:0009835	82.90	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	3245.15
E-ANND-3	yes	10.74
E-MTAB-9543	no	5.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting ABCB9, 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-6873-3P	100.00	71.42	2626
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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349

Literature-anchored findings (GeneRIF, showing 12)

• is part of the peptide-loading complex in the classic route of antigen processing via major histocompatibility complex class I molecules (PMID:15863492)
• These findings suggest that the transport activity of hTAPL is important for conferring high valinomycin-sensitive phenotype to yeast. (PMID:16554024)
• the TAPL-specific translocation of peptides into isolated lysosomes strictly requires ATP hydrolysis (PMID:17977821)
• The ATP-binding of TAPL required Mg(2+), and was observed at neutral pH. Chemical cross-linking experiments suggested that TAPL forms a homodimer in the membrane and under the solubilized conditions. (PMID:18175933)
• analysis of lipid activation of the lysosomal transport complex ABCB9 (PMID:18434309)
• These results suggest that the sorting signal for lysosomes is present within the amino-terminal transmembrane domain (Met(1)-Arg(141)) of the TAPL molecule. (PMID:18952056)
• By dissecting ABCB9, distinct functions were assigned to the core complex and the extra N-terminal transmembrane domain. (PMID:20377823)
• These results suggest that TAPL may be localized to the microdomains (lipid rafts) of lysosomal membranes enriched in cholesterol. (PMID:21212514)
• LAMP proteins retain TAPL on the limiting membrane of endosomes and prevent its sorting to intraluminal vesicles. (PMID:22641697)
• The structure of the unique domain of TAPL, is reported. (PMID:24013930)
• the TMD0 of TAPL was expressed via a cell-free expression system and confirmed its correct folding by NMR and interaction studies. (PMID:30353140)
• results expand our knowledge about lysosomal trafficking of TAPL and the general function of extra transmembrane domains of ABC transporters (PMID:30877195)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	abcb9	ENSDARG00000056200
mus_musculus	Abcb9	ENSMUSG00000029408
rattus_norvegicus	Abcb9	ENSRNOG00000001082
caenorhabditis_elegans	haf-9	WBGENE00001819

Paralogs (10): ABCB5 (ENSG00000004846), ABCB4 (ENSG00000005471), ABCB11 (ENSG00000073734), ABCB1 (ENSG00000085563), ABCB6 (ENSG00000115657), ABCB7 (ENSG00000131269), ABCB10 (ENSG00000135776), TAP1 (ENSG00000168394), ABCB8 (ENSG00000197150), TAP2 (ENSG00000204267)

Protein

Protein identifiers

ABC-type oligopeptide transporter ABCB9 — Q9NP78 (reviewed: Q9NP78)

Alternative names: ATP-binding cassette sub-family B member 9, ATP-binding cassette transporter 9, TAP-like protein

All UniProt accessions (11): Q9NP78, F5GX86, F5GXZ5, F5GYI2, F5H0G0, F5H4Y2, F5H5F9, F5H5I5, F5H5Q0, F5H7U2, H7C478

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen for degradation. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Binds and transports smaller and larger peptides with the same affinity. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored.

Subunit / interactions. Homodimer. Interacts (via TMD0 region) with LAMP1; this interaction strongly stabilizes ABCB9 and protects ABCB9 against lysosomal degradation. Interacts (via TMD0 region) with LAMP2 (isoform LAMP-2B). Interacts (via TMD0) with YIF1B; this interaction allows (but is not essential) the ER-to-Golgi trafficking and strongly depends on a salt bridge within TMD0.

Subcellular location. Lysosome membrane.

Tissue specificity. Highly expressed in testis, and at moderate levels in brain, spinal cord, and thyroid. Not expressed in monocytes but strongly expressed during differentiation of monocytes to dendritic cells and macrophages.

Activity regulation. Transport activity is limited by threshold levels of luminal peptide. ATP hydrolysis is reduced in the presence of the spatial challenging 18-mer peptide by 50% and the branched 16-mer peptide by 75%. Transport rate of the longer peptides is strongly reduced.

Domain organisation. Divided into an N-terminal domain (TMD0) comprising four transmembrane helices and the following core domain (coreABCB9). TMD0 is required for lysosomal localization and LAMP1, LAMP2 and YIF1B interaction. The core domain is required for homodimerization and peptide transport activity.

Induction. Not induced by interferon-gamma.

Similarity. Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9NP78-1	1, 12A, c1-l	yes
Q9NP78-2	2, c1-s
Q9NP78-3	3
Q9NP78-5	4, 12B
Q9NP78-6	5, 12C
Q9NP78-7	6

RefSeq proteins (5): NP_001229942, NP_001229943, NP_062570, NP_062571, NP_982269 (=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
IPR030254	ABCB9_6-TMD	Domain
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

Catalyzed reactions (Rhea), 1 shown:

• a oligopeptide + ATP + H2O = a oligopeptide + ADP + phosphate + H(+) (RHEA:14429)

UniProt features (37 total): mutagenesis site 13, transmembrane region 8, splice variant 7, site 4, domain 2, chain 1, binding site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NP78-F1	85.76	0.52

Functional residue map

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

Catalytic / active sites (4): 17 (intramolecular salt bridge with arg-57. essential for the release from the er); 45 (important for the second trafficking step from the golgi to the endosomal and lysosomal compartments); 49 (important for the second trafficking step from the golgi to the endosomal and lysosomal compartments); 57 (intramolecular salt bridge with asp-17. essential for the release from the er)

Ligand- & substrate-binding residues (1): 539–546

Mutagenesis-validated functional residues (13):

Position	Phenotype
17	loss of lysosomal localization. does not affect interaction between coreabcb9 and tmd0 domains. does not affect dimeriza
17	loss of lysosomal localization. does not affect lysosomal localization; when associated with d-57. does not affect inter
45	loss of lysosomal localization; when assosiated with k-49. loss of lysosomal localization; when assosiated with k-49 and
45	decreases lysosomal localization; when associated with n-49.
49	loss of lysosomal localization; when assosiated with k-45. loss of lysosomal localization; when assosiated with k-45 and
49	decreases lysosomal localization; when associated with n-45.
57	decreases lysosomal localization. loss of lysosomal localization; when associated with a-100.
57	loss of lysosomal localization. does not affect lysosomal localization; when associated with r-17. does not affect inter
100	decreases lysosomal localization. loss of lysosomal localization; when associated with a-57.
100	decreases lysosomal localization. loss of lysosomal localization; when assosiated with r-17. loss of lysosomal localizat
136–137	no effect on lysosomal localization.
545	loss of peptide transport activity; whena ssociated with a-699.
699	loss of peptide transport activity; whena ssociated with a-545.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 241 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, ACTACCT_MIR196A_MIR196B, MORF_FLT1, YAGI_AML_WITH_INV_16_TRANSLOCATION, MORF_MSH3, GOCC_VACUOLAR_MEMBRANE, PEREZ_TP63_TARGETS, GCANCTGNY_MYOD_Q6, MORF_BRCA1, KEGG_LYSOSOME, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, MORF_ESR1, CACCAGC_MIR138, CAGCTG_AP4_Q5, CCATCCA_MIR432

GO Biological Process (5): peptide metabolic process (GO:0006518), protein transport (GO:0015031), peptide transport (GO:0015833), transmembrane transport (GO:0055085), oligopeptide transmembrane transport (GO:0035672)

GO Molecular Function (9): ATP binding (GO:0005524), ABC-type oligopeptide transporter activity (GO:0015421), ABC-type peptide transporter activity (GO:0015440), ATP hydrolysis activity (GO:0016887), transmembrane transporter activity (GO:0022857), protein homodimerization activity (GO:0042803), nucleotide binding (GO:0000166), protein binding (GO:0005515), ABC-type transporter activity (GO:0140359)

GO Cellular Component (5): lysosome (GO:0005764), lysosomal membrane (GO:0005765), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endomembrane system (GO:0012505)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
transmembrane transport	2
ABC-type transporter activity	2
cellular anatomical structure	2
metabolic process	1
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
oligopeptide transport	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
oligopeptide transmembrane transporter activity	1
peptide transport	1
peptide transmembrane transporter activity	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
transporter activity	1
identical protein binding	1
protein dimerization activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
ATPase-coupled transmembrane transporter activity	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1218 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCB9	LAMP2	P13473	899
ABCB9	LAMP1	P11279	774
ABCB9	OGFOD2	Q6N063	635
ABCB9	ABCF3	Q9NUQ8	607
ABCB9	ABCD4	O14678	576
ABCB9	ABCE1	P61221	528
ABCB9	ABCF2	Q9UG63	522
ABCB9	ABCG5	Q9H222	427
ABCB9	NADSYN1	Q6IA69	403
ABCB9	SLC19A2	O60779	384
ABCB9	TAPBP	O15533	376
ABCB9	ARL6IP4	Q66PJ3	370
ABCB9	ABCA4	P78363	356
ABCB9	PITPNM2	Q9BZ72	355
ABCB9	MPHOSPH9	Q99550	336

IntAct

28 interactions, top by confidence:

A	B	Type	Score
CNGA3	C2CD2L	psi-mi:“MI:0914”(association)	0.530
TCIRG1	AP3D1	psi-mi:“MI:0914”(association)	0.530
LRRC8B	SLC25A17	psi-mi:“MI:0914”(association)	0.530
KCNA2	TMEM129	psi-mi:“MI:0914”(association)	0.350
ATP2B2	ESYT2	psi-mi:“MI:0914”(association)	0.350
TTMP	TMEM223	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
PCDHA8	TMEM223	psi-mi:“MI:0914”(association)	0.350
HTR3B	TMEM223	psi-mi:“MI:0914”(association)	0.350
RXFP1	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
KCNMB3	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
PCDHAC1	C2CD2L	psi-mi:“MI:0914”(association)	0.350
MARCHF4	C2CD2L	psi-mi:“MI:0914”(association)	0.350
PTCHD3	ABCD4	psi-mi:“MI:0914”(association)	0.350
PCDHA3	ABCD4	psi-mi:“MI:0914”(association)	0.350
GRIN2A	ABCD4	psi-mi:“MI:0914”(association)	0.350
SLC17A2	ABCD4	psi-mi:“MI:0914”(association)	0.350
TLR9	ABCD4	psi-mi:“MI:0914”(association)	0.350
ABCA2	ABCD4	psi-mi:“MI:0914”(association)	0.350
OR10H2	ABCD4	psi-mi:“MI:0914”(association)	0.350
GRIN3B	DAPK3	psi-mi:“MI:0914”(association)	0.350
DCST1	ADCY3	psi-mi:“MI:0914”(association)	0.350
TMEM9B	STX10	psi-mi:“MI:0914”(association)	0.350
TMED7	ATP9A	psi-mi:“MI:0914”(association)	0.350
HSD17B3	UBB	psi-mi:“MI:0914”(association)	0.350
ABCB9	PIK3CA	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): DDX60L (Co-fractionation), ABCB9 (Affinity Capture-MS), ABCB9 (Affinity Capture-MS), ABCB9 (Affinity Capture-MS), ABCB9 (Affinity Capture-MS), ABCB9 (Affinity Capture-MS), ABCB9 (Affinity Capture-MS), ABCB9 (Affinity Capture-MS), ABCB9 (Affinity Capture-MS), ABCB9 (Affinity Capture-MS), ABCB9 (Affinity Capture-RNA), ABCB9 (Proximity Label-MS), ABCB9 (Proximity Label-MS), ABCB9 (Proximity Label-MS), ABCB9 (Proximity Label-MS)

ESM2 similar proteins: A0A125QXJ1, D3ZHR2, E7F6F7, G5EFD4, H2LNR5, O15440, O70595, O75027, P21441, P21958, P33897, P36370, P48410, P70170, P82451, P9WEL8, Q02592, Q08D64, Q09427, Q09428, Q09429, Q10185, Q2UPC0, Q42093, Q4WA92, Q4WPP6, Q61102, Q63120, Q63563, Q704E8, Q751N2, Q7DM58, Q8LPQ6, Q8RY46, Q92887, Q96J65, Q9C8G9, Q9C8H0, Q9C8H1, Q9DC29

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	140
Likely benign	18
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4185 predictions. Top by Δscore:

Variant	Effect	Δscore
12:122932188:TCACC:T	donor_loss	1.0000
12:122932189:CACC:C	donor_loss	1.0000
12:122932190:A:AC	donor_gain	1.0000
12:122932190:A:C	donor_loss	1.0000
12:122932191:C:CC	donor_gain	1.0000
12:122932191:C:CT	donor_loss	1.0000
12:122932324:TGTCT:T	acceptor_gain	1.0000
12:122932325:GTCT:G	acceptor_gain	1.0000
12:122932327:CT:C	acceptor_gain	1.0000
12:122932329:C:CC	acceptor_gain	1.0000
12:122932331:G:GC	acceptor_gain	1.0000
12:122932333:A:AC	acceptor_gain	1.0000
12:122932333:A:C	acceptor_gain	1.0000
12:122932336:G:C	acceptor_gain	1.0000
12:122932336:G:GC	acceptor_gain	1.0000
12:122932343:C:CT	acceptor_gain	1.0000
12:122932345:C:CT	acceptor_gain	1.0000
12:122935266:CCACA:C	donor_loss	1.0000
12:122935267:CACAC:C	donor_loss	1.0000
12:122935268:ACAC:A	donor_loss	1.0000
12:122935271:C:A	donor_loss	1.0000
12:122935286:T:TA	donor_gain	1.0000
12:122935427:GAGAT:G	acceptor_gain	1.0000
12:122935428:AGAT:A	acceptor_gain	1.0000
12:122935429:GAT:G	acceptor_gain	1.0000
12:122935430:AT:A	acceptor_gain	1.0000
12:122935432:C:CC	acceptor_gain	1.0000
12:122935432:CTG:C	acceptor_loss	1.0000
12:122935433:T:G	acceptor_loss	1.0000
12:122940109:A:AC	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000013581 (12:122926237 C>T), RS1000034599 (12:122968939 C>T), RS1000209610 (12:122925228 G>A), RS1000240748 (12:122924833 A>G), RS1000277722 (12:122955200 G>A), RS1000288082 (12:122975098 C>G,T), RS1000305859 (12:122932513 T>C), RS1000377373 (12:122956283 T>C), RS1000400900 (12:122949847 T>C), RS1000432202 (12:122949556 G>A), RS1000466421 (12:122968752 T>A), RS1000523919 (12:122964265 C>T), RS1000556601 (12:122964016 G>C), RS1000580894 (12:122957775 G>A), RS1000623774 (12:122974051 CAAAT>C)

Disease associations

OMIM: gene MIM:605453 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST001061_3	Platelet count	2.000000e-06
GCST002149_20	Schizophrenia	2.000000e-08
GCST002539_19	Schizophrenia	2.000000e-14
GCST004521_72	Autism spectrum disorder or schizophrenia	8.000000e-12
GCST004894_117	Type 2 diabetes	2.000000e-07
GCST004894_13	Type 2 diabetes	2.000000e-07
GCST004946_85	Schizophrenia	6.000000e-18
GCST006803_10	Schizophrenia	6.000000e-16
GCST007277_17	Tourette syndrome	2.000000e-06
GCST007483_50	Waist-to-hip ratio adjusted for BMI (additive genetic model)	1.000000e-08
GCST007487_14	Waist-to-hip ratio adjusted for BMI (additive genetic model)	4.000000e-09
GCST007500_17	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-06
GCST007502_13	Waist-to-hip ratio adjusted for BMI (additive genetic model)	8.000000e-07
GCST007680_3	Triiodothyronine levels and thyroxine levels	1.000000e-06
GCST010703_43	Brain morphology (MOSTest)	1.000000e-08
GCST90020024_435	A body shape index	2.000000e-10
GCST90020024_439	A body shape index	1.000000e-10
GCST90020024_441	A body shape index	2.000000e-13
GCST90020025_406	Waist-to-hip ratio adjusted for BMI	8.000000e-17
GCST90020025_408	Waist-to-hip ratio adjusted for BMI	3.000000e-18
GCST90020027_1254	Waist-hip index	4.000000e-11
GCST90020027_1258	Waist-hip index	3.000000e-16
GCST90020027_1260	Waist-hip index	2.000000e-17
GCST90020028_1261	Hip circumference adjusted for BMI	5.000000e-12
GCST90020029_366	Waist circumference adjusted for body mass index	1.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008392	triiodothyronine measurement
EFO:0004346	neuroimaging measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1293189 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs4148866	ABCB9		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — ABCB subfamily

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	3
Cisplatin	affects cotreatment, increases expression, affects expression	2
Aflatoxin B1	increases methylation, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
chloroacetaldehyde	increases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	increases expression	1
Cidofovir	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Vehicle Emissions	decreases expression, increases abundance	1
Dexamethasone	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Clodronic Acid	increases expression	1
Doxorubicin	decreases expression	1
Ifosfamide	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Oxygen	increases expression	1
Progesterone	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1292654	Binding	Effect on human GFP-tagged TAPL-mediated cellular uptake expressed in CHO-K1 cells assessed as localization to endoplasmic reticulum at 10 uM after 5 hrs using ER-Tracker red staining by confocal laser scanning microscopic analysis	Convergent synthesis of fluorescence-labeled probes of Annonaceous acetogenins and visualization of their cell distribution. — Bioorg Med Chem

Clinical trials (associated diseases)

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