ATP8B2

Summary

ATP8B2 (ATPase phospholipid transporting 8B2, HGNC:13534) is a protein-coding gene on chromosome 1q21.3, encoding Phospholipid-transporting ATPase ID (P98198). Catalytic component of P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of phosphatidylcholine (PC) from the outer to the inner leaflet of the plasma membrane.

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 57198 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 156 total
• MANE Select transcript: NM_001370597

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13534
Approved symbol	ATP8B2
Name	ATPase phospholipid transporting 8B2
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	ATPID, KIAA1137
Ensembl gene	ENSG00000143515
Ensembl biotype	protein_coding
OMIM	605867
Entrez	57198

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000368487, ENST00000368489, ENST00000368490, ENST00000426445, ENST00000505882, ENST00000514107, ENST00000672630, ENST00000696573, ENST00000933585, ENST00000933586, ENST00000933587, ENST00000972148

RefSeq mRNA: 5 — MANE Select: NM_001370597 NM_001005855, NM_001367934, NM_001370596, NM_001370597, NM_001372009

CCDS: CCDS1066, CCDS41405, CCDS91062

Canonical transcript exons

ENST00000368489 — 28 exons

Exon	Start	End
ENSE00000960572	154342480	154342523
ENSE00000960574	154343113	154343301
ENSE00000960575	154343453	154343568
ENSE00000960577	154344143	154344254
ENSE00000960578	154344395	154344500
ENSE00000960579	154344641	154344785
ENSE00000960580	154344971	154345154
ENSE00000960581	154345322	154345545
ENSE00000960582	154345800	154345883
ENSE00000960584	154346620	154346758
ENSE00000960597	154343893	154344057
ENSE00000960610	154342796	154342961
ENSE00000960617	154346231	154346476
ENSE00001839356	154348840	154351304
ENSE00003469312	154334107	154334265
ENSE00003473168	154334503	154334591
ENSE00003527092	154332618	154332697
ENSE00003554177	154331954	154332024
ENSE00003559402	154330815	154330928
ENSE00003564288	154348408	154348538
ENSE00003585304	154331606	154331678
ENSE00003588896	154330396	154330454
ENSE00003611460	154340854	154341062
ENSE00003619766	154337348	154337544
ENSE00003659276	154328105	154328172
ENSE00003675574	154331444	154331505
ENSE00003677098	154331048	154331146
ENSE00003905460	154325525	154325702

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 95.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.7299 / max 383.7878, expressed in 1716 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5488	24.1508	1705
5491	0.8561	351
5493	0.5575	74
5489	0.3687	89
5494	0.2920	63
5495	0.1884	55
5490	0.1802	88
5496	0.1364	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	95.82	gold quality
right coronary artery	UBERON:0001625	95.63	gold quality
stromal cell of endometrium	CL:0002255	95.62	gold quality
ascending aorta	UBERON:0001496	94.39	gold quality
thoracic aorta	UBERON:0001515	94.37	gold quality
body of uterus	UBERON:0009853	94.10	gold quality
left uterine tube	UBERON:0001303	93.98	gold quality
aorta	UBERON:0000947	93.97	gold quality
popliteal artery	UBERON:0002250	93.74	gold quality
tibial artery	UBERON:0007610	93.73	gold quality
right ovary	UBERON:0002118	93.47	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.39	gold quality
cerebellar hemisphere	UBERON:0002245	93.22	gold quality
cerebellar cortex	UBERON:0002129	93.16	gold quality
descending thoracic aorta	UBERON:0002345	93.09	gold quality
endocervix	UBERON:0000458	92.98	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.93	gold quality
lower esophagus	UBERON:0013473	92.88	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.82	gold quality
cartilage tissue	UBERON:0002418	92.69	gold quality
left ovary	UBERON:0002119	92.58	gold quality
granulocyte	CL:0000094	92.11	gold quality
left coronary artery	UBERON:0001626	92.07	gold quality
cerebellum	UBERON:0002037	92.06	gold quality
jejunal mucosa	UBERON:0000399	91.95	gold quality
tendon of biceps brachii	UBERON:0008188	91.65	gold quality
coronary artery	UBERON:0001621	91.43	gold quality
calcaneal tendon	UBERON:0003701	91.24	gold quality
ovary	UBERON:0000992	90.82	gold quality
cauda epididymis	UBERON:0004360	90.37	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

131 targeting ATP8B2, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548AN	99.97	70.91	2817

Literature-anchored findings (GeneRIF, showing 1)

• the predominant P4 ATPases in pure pancreatic beta cells and human and rat pancreatic islets were ATP8B1, ATP8B2, and ATP9A. ATP8B1 and CDC50A were highly concentrated in ISG (PMID:26240149)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000104450
mus_musculus	Atp8b2	ENSMUSG00000060671
rattus_norvegicus	Atp8b2	ENSRNOG00000020822
drosophila_melanogaster	CG9981	FBGN0030746
drosophila_melanogaster	CG4301	FBGN0030747
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), ATP10D (ENSG00000145246), ATP9B (ENSG00000166377), ATP10A (ENSG00000206190)

Protein

Protein identifiers

Phospholipid-transporting ATPase ID — P98198 (reviewed: P98198)

Alternative names: ATPase class I type 8B member 2, P4-ATPase flippase complex alpha subunit ATP8B2

All UniProt accessions (1): P98198

UniProt curated annotations — full annotation on UniProt →

Function. Catalytic component of P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of phosphatidylcholine (PC) from the outer to the inner leaflet of the plasma membrane. May contribute to the maintenance of membrane lipid asymmetry.

Subunit / interactions. Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit ATP8B2 and an accessory beta subunit TMEM30A or TMEM30B.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane.

Tissue specificity. Isoform 3 is ubiquitous, with highest expression in aorta, cerebellum and uterus.

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

Isoforms (5)

UniProt ID	Names	Canonical?
P98198-1	1	yes
P98198-2	2
P98198-3	3
P98198-4	4
P98198-5	5

RefSeq proteins (5): NP_001005855, NP_001354863, NP_001357525, NP_001357526, NP_001358938 (=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

Pfam: PF13246, PF16209, PF16212

Enzyme classification (BRENDA):

• EC 7.6.2.1 — P-type phospholipid transporter (BRENDA: 22 organisms, 260 substrates, 62 inhibitors, 53 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.016–2.215	41
P-NITROPHENYL PHOSPHATE	1.17–1.46	3
ACETYL PHOSPHATE	1.03–1.31	2
1-PALMITOYL-2-OLEOYL-SN-GLYCERO-3-PHOSPHO-L-SERI	0.111	1

Catalyzed reactions (Rhea), 1 shown:

• a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ADP + phosphate + H(+) (RHEA:38583)

UniProt features (55 total): binding site 18, topological domain 11, transmembrane region 10, splice variant 6, region of interest 2, compositionally biased region 2, mutagenesis site 2, chain 1, active site 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P98198-F1	82.24	0.40

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): 411 (4-aspartylphosphate intermediate)

Ligand- & substrate-binding residues (18): 411; 411; 412; 413; 413; 515; 556; 579; 613; 693; 694; 695 …

Post-translational modifications (1): 1175

Mutagenesis-validated functional residues (2):

Position	Phenotype
204	impairs atpase flippase activity.
411	impairs atpase activity.

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: 199 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GSE45365_NK_CELL_VS_CD8A_DC_UP, RNGTGGGC_UNKNOWN, HORIUCHI_WTAP_TARGETS_DN, GGGNRMNNYCAT_UNKNOWN, RORA1_01, GOZGIT_ESR1_TARGETS_DN, AMIT_SERUM_RESPONSE_20_MCF10A, TATTATA_MIR374, GGGTGGRR_PAX4_03, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1

GO Biological Process (5): Golgi organization (GO:0007030), monoatomic ion transmembrane transport (GO:0034220), phospholipid translocation (GO:0045332), lipid transport (GO:0006869), phospholipid transport (GO:0015914)

GO Molecular Function (10): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), phosphatidylcholine floppase activity (GO:0090554), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), phosphatidylcholine flippase activity (GO:0140345), nucleotide binding (GO:0000166), transporter activity (GO:0005215), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (11): nucleolus (GO:0005730), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), plasma membrane (GO:0005886), phospholipid-translocating ATPase complex (GO:1990531), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), 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	4
cytoplasm	3
ATP-dependent activity	2
phosphatidylcholine intramembrane carrier activity	2
endomembrane system	2
intracellular membrane-bounded organelle	2
organelle organization	1
endomembrane system organization	1
monoatomic ion transport	1
transmembrane transport	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
floppase activity	1
intramembrane lipid carrier activity	1
glycerophospholipid flippase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
cation binding	1
nuclear lumen	1
intracellular membraneless organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
Golgi apparatus subcompartment	1
membrane	1
cell periphery	1
transporter complex	1
intracellular anatomical structure	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1054 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP8B2	CDC50A	Q9NV96	834
ATP8B2	CDC50B	Q3MIR4	766
ATP8B2	PWWP2B	Q6NUJ5	469
ATP8B2	ASB12	Q8WXK4	458
ATP8B2	GPR26	Q8NDV2	454
ATP8B2	RBM12	Q9NTZ6	440
ATP8B2	MSS51	Q4VC12	436
ATP8B2	ALPK3	Q96L96	435
ATP8B2	TGFBRAP1	Q8WUH2	415
ATP8B2	PPEF1	O14829	402
ATP8B2	CREB3L4	Q8TEY5	386
ATP8B2	RLIM	Q9NVW2	370
ATP8B2	INAFM2	P0DMQ5	370
ATP8B2	RAPGEFL1	Q9UHV5	367
ATP8B2	RNFT2	Q96EX2	365

IntAct

45 interactions, top by confidence:

A	B	Type	Score
ATP8B2	TMEM30A	psi-mi:“MI:0915”(physical association)	0.650
ATP8B2	TMEM30A	psi-mi:“MI:0403”(colocalization)	0.650
TMEM30A	ATP8B2	psi-mi:“MI:0915”(physical association)	0.650
TMED2	ATP9A	psi-mi:“MI:0914”(association)	0.640
CHCHD10	CLPX	psi-mi:“MI:0914”(association)	0.640
TMEM30B	ATP8B2	psi-mi:“MI:0915”(physical association)	0.620
TMEM30B	ATP8B2	psi-mi:“MI:0403”(colocalization)	0.620
ATP8B2	TMEM30B	psi-mi:“MI:0915”(physical association)	0.620
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
MCOLN3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
	DENND11	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
CRELD1	TMEM223	psi-mi:“MI:0914”(association)	0.350
AVPR2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
RAMP2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CLEC2D	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
FAXC	METTL15	psi-mi:“MI:0914”(association)	0.350
DGCR2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
TIGIT	FAM171A2	psi-mi:“MI:0914”(association)	0.350
CX3CL1	FAM171A2	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
MAMDC4		psi-mi:“MI:0914”(association)	0.350
NKAIN1	GPR89A	psi-mi:“MI:0914”(association)	0.350

BioGRID (62): ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), ATP8B2 (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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 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
Transport of small molecules	9	6.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	124
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3778 predictions. Top by Δscore:

Variant	Effect	Δscore
1:154330394:A:AG	acceptor_gain	1.0000
1:154330395:G:GG	acceptor_gain	1.0000
1:154330395:GA:G	acceptor_gain	1.0000
1:154330451:TGCGG:T	donor_loss	1.0000
1:154330452:GCG:G	donor_gain	1.0000
1:154330453:CGG:C	donor_loss	1.0000
1:154330454:GGT:G	donor_loss	1.0000
1:154330455:G:A	donor_loss	1.0000
1:154330455:G:GG	donor_gain	1.0000
1:154330456:T:A	donor_loss	1.0000
1:154330805:A:AG	acceptor_gain	1.0000
1:154330805:ACT:A	acceptor_gain	1.0000
1:154330806:C:G	acceptor_gain	1.0000
1:154330807:T:TA	acceptor_gain	1.0000
1:154330811:ATAG:A	acceptor_loss	1.0000
1:154330812:T:G	acceptor_gain	1.0000
1:154330813:A:AG	acceptor_gain	1.0000
1:154330814:G:GA	acceptor_gain	1.0000
1:154330814:GA:G	acceptor_gain	1.0000
1:154330814:GAGT:G	acceptor_gain	1.0000
1:154330814:GAGTA:G	acceptor_gain	1.0000
1:154330887:G:GT	donor_gain	1.0000
1:154330925:GCAG:G	donor_gain	1.0000
1:154330926:CAGG:C	donor_loss	1.0000
1:154330929:G:GA	donor_loss	1.0000
1:154331046:A:AG	acceptor_gain	1.0000
1:154331046:AGTT:A	acceptor_gain	1.0000
1:154331047:G:GA	acceptor_gain	1.0000
1:154331047:GT:G	acceptor_gain	1.0000
1:154331047:GTT:G	acceptor_gain	1.0000

AlphaMissense

7898 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000026795 (1:154324217 G>A,T), RS1000273160 (1:154339214 A>G), RS1000282965 (1:154338807 C>A,G,T), RS1000381897 (1:154324344 C>A,T), RS1000436285 (1:154346538 C>A,T), RS1000535288 (1:154329507 A>T), RS1000561408 (1:154329502 G>A), RS1000576849 (1:154336311 T>C), RS1000944269 (1:154349643 T>A), RS1001158490 (1:154329808 T>C), RS1001316038 (1:154334912 G>A), RS1001399930 (1:154341956 G>A,C), RS1001530885 (1:154324832 T>C), RS1001587701 (1:154332310 G>A), RS1001831280 (1:154341685 C>CG)

Disease associations

OMIM: gene MIM:605867 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST003400_17	Type 2 diabetes	2.000000e-08
GCST003400_54	Type 2 diabetes	5.000000e-06
GCST005528_21	Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular)	1.000000e-08
GCST005987_22	Albumin-globulin ratio	2.000000e-09
GCST007847_52	Type 2 diabetes	3.000000e-08
GCST008103_125	Bipolar disorder	2.000000e-06
GCST009391_722	Metabolite levels	9.000000e-06
GCST010173_127	Triglyceride levels	7.000000e-10
GCST90010715_2	Arthritis (juvenile idiopathic)	4.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005128	albumin:globulin ratio measurement
EFO:0010532	salicylurate measurement
EFO:0004530	triglyceride 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Cyclosporine	decreases expression, increases expression	3
sodium arsenite	affects methylation, decreases expression	2
Estradiol	decreases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
aristolochic acid I	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
deoxynivalenol	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
afimoxifene	decreases expression, decreases reaction	1
manganese chloride	decreases expression, increases abundance	1
nickel sulfate	decreases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	increases expression	1
alpha-Chlorohydrin	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Diazinon	increases methylation	1
Chlorpyrifos	decreases response to substance, decreases expression	1
Estrogens	decreases expression, decreases reaction	1
Ethinyl Estradiol	affects expression	1
Formaldehyde	increases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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