ATP9B

Summary

ATP9B (ATPase phospholipid transporting 9B, HGNC:13541) is a protein-coding gene on chromosome 18q23, encoding Probable phospholipid-transporting ATPase IIB (O43861).

Predicted to enable ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in endocytosis; phospholipid translocation; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in perinuclear region of cytoplasm and trans-Golgi network.

Source: NCBI Gene 374868 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 249 total — 2 pathogenic
• MANE Select transcript: NM_198531

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13541
Approved symbol	ATP9B
Name	ATPase phospholipid transporting 9B
Location	18q23
Locus type	gene with protein product
Status	Approved
Aliases	ATPIIB
Ensembl gene	ENSG00000166377
Ensembl biotype	protein_coding
OMIM	614446
Entrez	374868

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 24 protein_coding, 9 retained_intron, 6 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000307671, ENST00000426216, ENST00000490210, ENST00000585674, ENST00000586366, ENST00000586672, ENST00000586722, ENST00000586774, ENST00000587410, ENST00000587878, ENST00000587919, ENST00000588600, ENST00000588772, ENST00000588895, ENST00000588921, ENST00000589326, ENST00000589732, ENST00000589951, ENST00000590163, ENST00000590271, ENST00000590477, ENST00000590608, ENST00000591395, ENST00000591464, ENST00000591518, ENST00000899989, ENST00000899990, ENST00000899991, ENST00000899992, ENST00000899993, ENST00000899994, ENST00000899995, ENST00000940834, ENST00000940835, ENST00000940836, ENST00000963364, ENST00000963365, ENST00000963366, ENST00000963367, ENST00000963368, ENST00000963369, ENST00000963370

RefSeq mRNA: 2 — MANE Select: NM_198531 NM_001306085, NM_198531

CCDS: CCDS12014, CCDS77202

Canonical transcript exons

ENST00000426216 — 30 exons

Exon	Start	End
ENSE00002804876	79069394	79069529
ENSE00002907374	79377247	79378283
ENSE00003460183	79113241	79113354
ENSE00003500111	79110355	79110505
ENSE00003512812	79345775	79345839
ENSE00003522135	79347770	79347925
ENSE00003542338	79342268	79342366
ENSE00003566056	79345428	79345572
ENSE00003566891	79359354	79359462
ENSE00003573559	79126267	79126375
ENSE00003582657	79344265	79344354
ENSE00003586322	79306986	79307234
ENSE00003588591	79372825	79372882
ENSE00003605429	79213962	79214038
ENSE00003606422	79154504	79154555
ENSE00003608960	79329141	79329302
ENSE00003626646	79176813	79176907
ENSE00003632982	79375394	79375426
ENSE00003637813	79143802	79143860
ENSE00003642337	79337279	79337449
ENSE00003648208	79253381	79253541
ENSE00003649880	79096476	79096649
ENSE00003651762	79330012	79330104
ENSE00003659061	79277054	79277196
ENSE00003659967	79336628	79336711
ENSE00003661910	79193183	79193263
ENSE00003664371	79303604	79303716
ENSE00003676250	79348132	79348196
ENSE00003677118	79373898	79374101
ENSE00003683253	79206937	79207012

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 95.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.2445 / max 178.7572, expressed in 1801 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170890	12.8133	1793
170891	1.5245	597
170889	0.6003	252
208611	0.1777	76
170897	0.0646	28
170898	0.0407	18
170896	0.0234	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	95.09	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.79	gold quality
colonic epithelium	UBERON:0000397	93.38	gold quality
calcaneal tendon	UBERON:0003701	93.06	gold quality
ventricular zone	UBERON:0003053	91.52	gold quality
adrenal tissue	UBERON:0018303	90.74	gold quality
right testis	UBERON:0004534	90.53	gold quality
left testis	UBERON:0004533	90.48	gold quality
testis	UBERON:0000473	89.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.91	gold quality
left ovary	UBERON:0002119	88.53	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.35	gold quality
ectocervix	UBERON:0012249	88.27	gold quality
tibial nerve	UBERON:0001323	88.07	gold quality
right ovary	UBERON:0002118	87.97	gold quality
ganglionic eminence	UBERON:0004023	87.87	gold quality
cervix squamous epithelium	UBERON:0006922	87.77	silver quality
lower esophagus mucosa	UBERON:0035834	87.73	gold quality
stromal cell of endometrium	CL:0002255	87.62	gold quality
ovary	UBERON:0000992	87.57	gold quality
endocervix	UBERON:0000458	87.45	gold quality
right uterine tube	UBERON:0001302	87.29	gold quality
skin of leg	UBERON:0001511	87.03	gold quality
stomach	UBERON:0000945	86.71	gold quality
body of stomach	UBERON:0001161	86.67	gold quality
skin of abdomen	UBERON:0001416	86.52	gold quality
mucosa of transverse colon	UBERON:0004991	86.45	gold quality
body of uterus	UBERON:0009853	86.45	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.42	gold quality
spinal cord	UBERON:0002240	86.32	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.11
E-CURD-135	no	2928.00
E-HCAD-6	no	448.08
E-HCAD-8	no	442.67
E-MTAB-7249	no	271.29
E-GEOD-137537	no	5.64

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNBL1, MYB, MYF5, MYOD1, SPI1

miRNA regulators (miRDB)

61 targeting ATP9B, 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-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-3120-5P	100.00	65.56	965
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-3606-5P	99.31	69.67	1168
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6868-5P	99.06	65.69	1284

Literature-anchored findings (GeneRIF, showing 1)

• These results revealed that human human macrophage MHC receptor 1 on monocytes is a novel receptor specific for HLA-B44. (PMID:22525042)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp9b	ENSDARG00000062521
mus_musculus	Atp9b	ENSMUSG00000024566
rattus_norvegicus	Atp9b	ENSRNOG00000032039
drosophila_melanogaster	CG31729	FBGN0051729
caenorhabditis_elegans	tat-5	WBGENE00009498
caenorhabditis_elegans		WBGENE00017174

Paralogs (13): ATP9A (ENSG00000054793), ATP11B (ENSG00000058063), ATP11A (ENSG00000068650), ATP8B1 (ENSG00000081923), ATP11C (ENSG00000101974), ATP8B4 (ENSG00000104043), ATP10B (ENSG00000118322), ATP8A1 (ENSG00000124406), ATP8B3 (ENSG00000130270), ATP8A2 (ENSG00000132932), ATP8B2 (ENSG00000143515), ATP10D (ENSG00000145246), ATP10A (ENSG00000206190)

Protein

Protein identifiers

Probable phospholipid-transporting ATPase IIB — O43861 (reviewed: O43861)

Alternative names: ATPase class II type 9B

All UniProt accessions (12): O43861, B4DJ94, K7EII3, K7EJG1, K7EJP9, K7EJS3, K7EL57, K7EPH4, K7EQ39, K7EQQ5, K7ERE0, K7ES39

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Golgi apparatus. trans-Golgi network membrane.

Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
O43861-1	1	yes
O43861-2	2

RefSeq proteins (2): NP_001293014, NP_940933* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001757	P_typ_ATPase	Family
IPR006539	P-type_ATPase_IV	Family
IPR008250	ATPase_P-typ_transduc_dom_A_sf	Homologous_superfamily
IPR018303	ATPase_P-typ_P_site	PTM
IPR023214	HAD_sf	Homologous_superfamily
IPR023298	ATPase_P-typ_TM_dom_sf	Homologous_superfamily
IPR023299	ATPase_P-typ_cyto_dom_N	Homologous_superfamily
IPR032630	P_typ_ATPase_c	Domain
IPR032631	P-type_ATPase_N	Domain
IPR036412	HAD-like_sf	Homologous_superfamily
IPR044492	P_typ_ATPase_HD_dom	Domain
IPR059000	ATPase_P-type_domA	Domain

Pfam: PF00122, PF00702, PF16209, PF16212

UniProt features (58 total): binding site 20, topological domain 11, transmembrane region 10, sequence conflict 8, sequence variant 4, chain 1, region of interest 1, compositionally biased region 1, active site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43861-F1	79.49	0.29

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 (1): 468 (4-aspartylphosphate intermediate)

Ligand- & substrate-binding residues (20): 468; 468; 469; 470; 470; 591; 633; 638; 657; 686; 687; 766 …

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-936837	Ion transport by P-type ATPases
R-HSA-382551	Transport of small molecules
R-HSA-983712	Ion channel transport

MSigDB gene sets: 145 (showing top): IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, FOSTER_TOLERANT_MACROPHAGE_UP, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_IMPORT_INTO_CELL, GOBP_LIPID_LOCALIZATION, GOBP_ENDOCYTOSIS, GRYDER_PAX3FOXO1_TOP_ENHANCERS

GO Biological Process (5): retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), endocytosis (GO:0006897), phospholipid translocation (GO:0045332), lipid transport (GO:0006869), phospholipid transport (GO:0015914)

GO Molecular Function (7): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), nucleotide binding (GO:0000166), transporter activity (GO:0005215), metal ion binding (GO:0046872)

GO Cellular Component (7): endosome (GO:0005768), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471), Golgi apparatus (GO:0005794), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Ion channel transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ATP-dependent activity	2
endomembrane system	2
cytoplasm	2
Golgi vesicle transport	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
phospholipid transport	1
lipid translocation	1
transport	1
lipid localization	1
lipid transport	1
organophosphate ester transport	1
metal ion binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
intramembrane lipid carrier activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cation binding	1
cytoplasmic vesicle	1
Golgi apparatus subcompartment	1
membrane	1
cell periphery	1
intracellular membrane-bounded organelle	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

448 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP9B	CDC50A	Q9NV96	651
ATP9B	CDC50B	Q3MIR4	643
ATP9B	SLC66A2	Q8N2U9	524
ATP9B	DOP1A	Q5JWR5	509
ATP9B	MON2	Q7Z3U7	506
ATP9B	NEO1	Q92859	487
ATP9B	DOP1B	Q9Y3R5	407
ATP9B	UBE2G1	P62253	397
ATP9B	ZNF407	Q9C0G0	374
ATP9B	TXNL4A	P83876	360
ATP9B	SALL3	Q9BXA9	351
ATP9B	ATPAF1	Q5TC12	340
ATP9B	SNX3	O60493	330
ATP9B	RBFA	Q8N0V3	322
ATP9B	ANKLE1	Q8NAG6	321

IntAct

23 interactions, top by confidence:

A	B	Type	Score
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
OPALIN	BTAF1	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
SLC31A2	PLSCR1	psi-mi:“MI:0914”(association)	0.350
ATP9A	ATP9B	psi-mi:“MI:0914”(association)	0.350
TSPAN8	POTEF	psi-mi:“MI:0914”(association)	0.350
ACKR3	PDE2A	psi-mi:“MI:0914”(association)	0.350
AVPR2	ATP9B	psi-mi:“MI:0914”(association)	0.350
CXCR3	RIMOC1	psi-mi:“MI:0914”(association)	0.350
CXCR4	ESYT2	psi-mi:“MI:0914”(association)	0.350
HTR1E	ESYT2	psi-mi:“MI:0914”(association)	0.350
LGALS3	SDCBP	psi-mi:“MI:0914”(association)	0.350
NPTN	RIMOC1	psi-mi:“MI:0914”(association)	0.350
RETREG3	NPC1	psi-mi:“MI:0914”(association)	0.350
MFSD5	ILVBL	psi-mi:“MI:0914”(association)	0.350
SLC15A3	GXYLT2	psi-mi:“MI:0914”(association)	0.350
SLC19A2	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC2A7	GPR89A	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC35C2	PGRMC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): ATP9B (Affinity Capture-RNA), ATP9B (Affinity Capture-RNA), ATP9B (Affinity Capture-RNA), ATP9B (Affinity Capture-MS), ATP9B (Affinity Capture-MS), ATP9B (Affinity Capture-MS), ATP9B (Affinity Capture-MS), ATP9B (Affinity Capture-MS), ATP9B (Proximity Label-MS), ATP9B (Co-fractionation), ATP9B (Co-fractionation), IGSF8 (Co-fractionation), PTK7 (Co-fractionation), ATP9B (Protein-peptide), ATP9B (Affinity Capture-MS)

ESM2 similar proteins: A1A4J6, D4ABB8, F1Q4S1, G5EBH1, O14072, O43520, O43861, O70228, O75110, P09626, P19156, P20648, P27112, P40527, P50996, P57792, P90747, P98195, P98196, P98197, P98198, P98199, Q10309, Q27533, Q3TYU2, Q4VNC1, Q4WYP6, Q5XF89, Q5XF90, Q5ZKB7, Q64436, Q6DFW5, Q8NB49, Q92126, Q93084, Q95JN5, Q9EPE9, Q9H7F0, Q9HD20, Q9LI83

Diamond homologs: A1A4J6, A3FIN4, D4ABB8, F1Q4S1, G2X7W6, G5EBH1, O43861, O70228, O75110, O94296, P05025, P13607, P25489, P35317, P39524, P40527, P57792, P70704, P98195, P98196, P98197, P98198, P98199, P98205, Q10309, Q29449, Q6DFW5, Q6RWA9, Q8TF62, Q92123, Q9GKS6, Q9LK90, Q9N0Z4, Q9NTI2, Q9Y2G3, Q9Y2Q0, Q9YH26, S7VVK4, B1AWN4, C7EXK4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	181
Likely benign	15
Benign	5

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
149476	GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1	Pathogenic
564566	GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1	Pathogenic

SpliceAI

7841 predictions. Top by Δscore:

Variant	Effect	Δscore
18:79069525:AGCAG:A	donor_loss	1.0000
18:79069526:GCAG:G	donor_gain	1.0000
18:79069527:CAG:C	donor_loss	1.0000
18:79069528:AGGT:A	donor_loss	1.0000
18:79069529:GG:G	donor_loss	1.0000
18:79069530:G:C	donor_loss	1.0000
18:79069531:T:G	donor_loss	1.0000
18:79110457:G:GT	donor_gain	1.0000
18:79113351:TCTGG:T	donor_loss	1.0000
18:79113353:TGGTA:T	donor_loss	1.0000
18:79113354:GGT:G	donor_loss	1.0000
18:79113355:GT:G	donor_loss	1.0000
18:79113356:T:A	donor_loss	1.0000
18:79126263:ATAG:A	acceptor_gain	1.0000
18:79126263:ATAGG:A	acceptor_gain	1.0000
18:79126265:A:AG	acceptor_gain	1.0000
18:79126265:A:C	acceptor_loss	1.0000
18:79126265:AG:A	acceptor_gain	1.0000
18:79126265:AGG:A	acceptor_gain	1.0000
18:79126266:G:GA	acceptor_gain	1.0000
18:79126266:GG:G	acceptor_gain	1.0000
18:79126266:GGG:G	acceptor_gain	1.0000
18:79126266:GGGA:G	acceptor_gain	1.0000
18:79126266:GGGAT:G	acceptor_gain	1.0000
18:79126336:G:GT	donor_gain	1.0000
18:79126336:G:T	donor_gain	1.0000
18:79126369:G:GG	donor_gain	1.0000
18:79126373:GAG:G	donor_gain	1.0000
18:79126373:GAGGT:G	donor_loss	1.0000
18:79126374:AG:A	donor_loss	1.0000

AlphaMissense

7532 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:79277187:G:C	D468H	1.000
18:79277188:A:C	D468A	1.000
18:79307223:A:C	S588R	1.000
18:79307225:C:A	S588R	1.000
18:79307225:C:G	S588R	1.000
18:79329283:G:C	R639P	1.000
18:79330048:G:C	G658R	1.000
18:79372870:A:C	S1020R	1.000
18:79372872:T:A	S1020R	1.000
18:79372872:T:G	S1020R	1.000
18:79193208:T:A	V300D	0.999
18:79193249:G:C	G314R	0.999
18:79206988:T:A	W336R	0.999
18:79206988:T:C	W336R	0.999
18:79207004:T:A	V341D	0.999
18:79213973:G:C	G348R	0.999
18:79213974:G:A	G348D	0.999
18:79253535:C:A	P421H	0.999
18:79253535:C:G	P421R	0.999
18:79253540:A:C	S423R	0.999
18:79277054:T:A	S423R	0.999
18:79277054:T:G	S423R	0.999
18:79277188:A:T	D468V	0.999
18:79277190:A:C	K469Q	0.999
18:79277191:A:T	K469I	0.999
18:79277192:A:C	K469N	0.999
18:79277192:A:T	K469N	0.999
18:79303604:G:A	G471E	0.999
18:79303625:T:C	M478T	0.999
18:79303625:T:G	M478R	0.999

dbSNP variants (sampled 300 via entrez): RS1000011090 (18:79257513 A>G), RS1000012026 (18:79253841 T>A,C), RS1000034660 (18:79213719 G>A), RS1000052661 (18:79099172 G>A,T), RS1000058697 (18:79076544 G>A), RS1000063855 (18:79178015 A>T), RS1000067678 (18:79178355 G>A), RS1000090230 (18:79089610 A>G), RS1000094736 (18:79304711 A>C), RS1000095517 (18:79176424 A>T), RS1000102805 (18:79096858 A>G), RS1000105150 (18:79330375 A>G), RS1000111739 (18:79280621 G>A), RS1000112191 (18:79200787 G>A,C), RS1000113682 (18:79238851 C>T)

Disease associations

OMIM: gene MIM:614446 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (1): Non-syndromic anorectal malformation (Orphanet:557)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001942_18	Prostate cancer	2.000000e-09
GCST006148_11	Frontotemporal dementia with GRN mutation	1.000000e-06
GCST006154_6	Frontotemporal dementia	6.000000e-06
GCST009391_1282	Metabolite levels	3.000000e-06
GCST011983_19	Fasting glucose	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009792	valine measurement

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 — P4 P-type ATPases: Phospholipid-transporting ATPases

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	2
sodium arsenite	decreases expression, increases abundance, increases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression	2
Aflatoxin B1	affects methylation, decreases methylation	2
Cadmium Chloride	increases abundance, increases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
arsenite	affects binding, decreases reaction	1
1,6-hexamethylene diisocyanate	increases methylation	1
manganese chloride	increases abundance, decreases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	decreases methylation	1
Resveratrol	increases expression	1
Cadmium	increases abundance, increases expression	1
Cocaine	affects response to substance	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	increases expression	1
Manganese	decreases expression, increases abundance	1
Sarin	increases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Uranium	affects expression	1
Valproic Acid	decreases methylation	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases methylation	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SE22	HAP1 ATP9B (-) 1	Cancer cell line	Male
CVCL_XL79	HAP1 ATP9B (-) 2	Cancer cell line	Male
CVCL_XL80	HAP1 ATP9B (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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