ATP11B

Summary

ATP11B (ATPase phospholipid transporting 11B (putative), HGNC:13553) is a protein-coding gene on chromosome 3q26.33, encoding Phospholipid-transporting ATPase IF (Q9Y2G3). Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of intracellular membranes.

P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.

Source: NCBI Gene 23200 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 148 total
• MANE Select transcript: NM_014616

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13553
Approved symbol	ATP11B
Name	ATPase phospholipid transporting 11B (putative)
Location	3q26.33
Locus type	gene with protein product
Status	Approved
Aliases	ATPIF, ATPIR, KIAA0956
Ensembl gene	ENSG00000058063
Ensembl biotype	protein_coding
OMIM	605869
Entrez	23200

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000323116, ENST00000466758, ENST00000475636, ENST00000482070, ENST00000482794, ENST00000484691, ENST00000490303, ENST00000491699, ENST00000493826, ENST00000498086, ENST00000868395, ENST00000868396, ENST00000868397, ENST00000868398, ENST00000936699, ENST00000954648

RefSeq mRNA: 1 — MANE Select: NM_014616 NM_014616

CCDS: CCDS33896

Canonical transcript exons

ENST00000323116 — 30 exons

Exon	Start	End
ENSE00000412284	182829672	182829752
ENSE00000781013	182820260	182820376
ENSE00001127532	182859162	182859359
ENSE00001139705	182865456	182865698
ENSE00001139710	182857878	182858028
ENSE00001621458	182828120	182828209
ENSE00001882929	182793504	182793786
ENSE00001897264	182918023	182921629
ENSE00003475411	182884753	182884898
ENSE00003494255	182869228	182869331
ENSE00003495585	182897303	182897406
ENSE00003500858	182887586	182887713
ENSE00003505877	182889410	182889548
ENSE00003512912	182873812	182874015
ENSE00003514813	182845458	182845522
ENSE00003542517	182880879	182880981
ENSE00003556065	182842075	182842122
ENSE00003563249	182848476	182848557
ENSE00003570663	182872356	182872537
ENSE00003590479	182866268	182866443
ENSE00003621516	182836035	182836142
ENSE00003640337	182885951	182886010
ENSE00003640847	182837071	182837174
ENSE00003642539	182896700	182896765
ENSE00003644337	182869078	182869151
ENSE00003653004	182898607	182898772
ENSE00003657077	182867376	182867444
ENSE00003662456	182879496	182879649
ENSE00003674273	182913861	182913994
ENSE00003693613	182836342	182836470

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 96.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.3760 / max 1651.1039, expressed in 1816 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
40052	31.6197	1812
40054	1.3137	749
40051	1.0518	686
40055	0.9952	551
40053	0.8358	368
40056	0.5598	247

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.69	gold quality
esophagus squamous epithelium	UBERON:0006920	95.60	gold quality
colonic epithelium	UBERON:0000397	95.05	gold quality
lower esophagus mucosa	UBERON:0035834	94.96	gold quality
bone marrow cell	CL:0002092	94.93	gold quality
squamous epithelium	UBERON:0006914	94.77	gold quality
sperm	CL:0000019	94.63	gold quality
tongue squamous epithelium	UBERON:0006919	94.54	gold quality
gingival epithelium	UBERON:0001949	94.43	gold quality
secondary oocyte	CL:0000655	94.23	gold quality
bone marrow	UBERON:0002371	94.16	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.16	gold quality
oral cavity	UBERON:0000167	94.12	gold quality
gingiva	UBERON:0001828	94.10	gold quality
tendon	UBERON:0000043	93.98	gold quality
tonsil	UBERON:0002372	93.86	gold quality
epithelium of esophagus	UBERON:0001976	93.19	gold quality
germinal epithelium of ovary	UBERON:0001304	92.84	gold quality
blood	UBERON:0000178	92.71	gold quality
epithelium of nasopharynx	UBERON:0001951	92.70	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.70	gold quality
jejunal mucosa	UBERON:0000399	92.69	gold quality
rectum	UBERON:0001052	92.57	gold quality
esophagus mucosa	UBERON:0002469	92.54	gold quality
hair follicle	UBERON:0002073	92.21	gold quality
superficial temporal artery	UBERON:0001614	92.09	gold quality
body of tongue	UBERON:0011876	92.05	gold quality
penis	UBERON:0000989	92.02	gold quality
skin of hip	UBERON:0001554	91.95	gold quality
male germ cell	CL:0000015	91.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

147 targeting ATP11B, 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-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 4)

• the region containing transmembrane domain 4, corresponding to exon 12, is present in the human homolog of the gene, ATP11B (PMID:11790799)
• colocalization of ATP11B with fluorescent cisplatin and with vesicular trafficking proteins, such as STX6 and VAMP4, strongly suggests that ATP11B contributes to secretory vesicular transport of cisplatin from Golgi to plasma membrane (PMID:23585472)
• Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease. (PMID:36510145)
• LINC00606 promotes glioblastoma progression through sponge miR-486-3p and interaction with ATP11B. (PMID:38725030)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp11b	ENSDARG00000101094
mus_musculus	Atp11b	ENSMUSG00000037400
rattus_norvegicus	Atp11b	ENSRNOG00000052116
drosophila_melanogaster	CG31729	FBGN0051729
caenorhabditis_elegans	tat-5	WBGENE00009498
caenorhabditis_elegans		WBGENE00017174

Paralogs (13): ATP9A (ENSG00000054793), ATP11A (ENSG00000068650), ATP8B1 (ENSG00000081923), ATP11C (ENSG00000101974), ATP8B4 (ENSG00000104043), ATP10B (ENSG00000118322), ATP8A1 (ENSG00000124406), ATP8B3 (ENSG00000130270), ATP8A2 (ENSG00000132932), ATP8B2 (ENSG00000143515), ATP10D (ENSG00000145246), ATP9B (ENSG00000166377), ATP10A (ENSG00000206190)

Protein

Protein identifiers

Phospholipid-transporting ATPase IF — Q9Y2G3 (reviewed: Q9Y2G3)

Alternative names: ATPase IR, ATPase class VI type 11B, P4-ATPase flippase complex alpha subunit ATP11B

All UniProt accessions (7): Q9Y2G3, A0A0C4DG94, H0Y854, H0Y8C7, H7C4E6, H7C4W6, H7C575

UniProt curated annotations — full annotation on UniProt →

Function. Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of intracellular membranes. May contribute to the maintenance of membrane lipid asymmetry in endosome compartment.

Subunit / interactions. Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit ATP11B and an accessory beta subunit TMEM30A.

Subcellular location. Recycling endosome membrane. Early endosome. Endoplasmic reticulum. Golgi apparatus. trans-Golgi network.

Activity regulation. The ATPase activity is up-regulated by aminophospholipids PS and PE.

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

RefSeq proteins (1): NP_055431* (*=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, PF13246, PF16209, PF16212

Catalyzed reactions (Rhea), 2 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) + ADP + phosphate + H(+) (RHEA:38567)
• a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) + ADP + phosphate + H(+) (RHEA:66132)

UniProt features (43 total): binding site 18, topological domain 11, transmembrane region 10, chain 1, active site 1, modified residue 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2G3-F1	82.23	0.45

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): 407 (4-aspartylphosphate intermediate)

Ligand- & substrate-binding residues (18): 407; 407; 408; 409; 409; 531; 572; 595; 626; 706; 707; 708 …

Post-translational modifications (1): 1154

Mutagenesis-validated functional residues (1):

Position	Phenotype
180	impairs atpase activity.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-936837	Ion transport by P-type ATPases
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-382551	Transport of small molecules
R-HSA-983712	Ion channel transport

MSigDB gene sets: 221 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOZGIT_ESR1_TARGETS_DN, chr3q26, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, PUJANA_CHEK2_PCC_NETWORK, GHO_ATF5_TARGETS_UP, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, FOSTER_TOLERANT_MACROPHAGE_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, SCHLOSSER_SERUM_RESPONSE_DN, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER

GO Biological Process (7): monoatomic ion transport (GO:0006811), aminophospholipid transport (GO:0015917), monoatomic ion transmembrane transport (GO:0034220), phospholipid translocation (GO:0045332), lipid transport (GO:0006869), phospholipid transport (GO:0015914), lipid translocation (GO:0034204)

GO Molecular Function (10): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), monoatomic ion transmembrane transporter activity (GO:0015075), ATP hydrolysis activity (GO:0016887), phosphatidylserine floppase activity (GO:0090556), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), nucleotide binding (GO:0000166), transporter activity (GO:0005215), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (13): nuclear inner membrane (GO:0005637), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020), early endosome membrane (GO:0031901), azurophil granule membrane (GO:0035577), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), phospholipid-translocating ATPase complex (GO:1990531), endosome (GO:0005768), early endosome (GO:0005769), endomembrane system (GO:0012505)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Innate Immune System	1
Ion channel transport	1
Immune System	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system	3
transport	2
phospholipid transport	2
lipid transport	2
ATP-dependent activity	2
cytoplasm	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
endosome membrane	2
endosome	2
nitrogen compound transport	1
monoatomic ion transport	1
transmembrane transport	1
lipid translocation	1
lipid localization	1
organophosphate ester transport	1
regulation of membrane lipid distribution	1
metal ion binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
transmembrane transporter activity	1
monoatomic ion transmembrane transport	1
ribonucleoside triphosphate phosphatase activity	1
floppase activity	1
intramembrane lipid carrier activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
cation binding	1
organelle inner membrane	1
nuclear membrane	1
membrane	1
cell periphery	1
early endosome	1
lysosomal membrane	1
secretory granule membrane	1
azurophil granule	1
recycling endosome	1
transporter complex	1

Protein interactions and networks

STRING

1274 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP11B	CDC50A	Q9NV96	717
ATP11B	SCGB1A1	P11684	669
ATP11B	DNAJC19	Q96DA6	576
ATP11B	CDC50B	Q3MIR4	490
ATP11B	DCUN1D1	Q96GG9	475
ATP11B	MCF2L2	Q86YR7	435
ATP11B	DPH3	Q96FX2	434
ATP11B	CYCS	P00001	433
ATP11B	B3GNT5	Q9BYG0	428
ATP11B	MYO18A	O95411	398
ATP11B	FXR1	P51114	391
ATP11B	WDR27	A2RRH5	388
ATP11B	NKX2-8	O15522	368
ATP11B	ATP11A	P98196	367
ATP11B	ATPAF1	Q5TC12	350

IntAct

20 interactions, top by confidence:

A	B	Type	Score
ATP11B	IFNA21	psi-mi:“MI:0915”(physical association)	0.590
TMEM30A	ATP11B	psi-mi:“MI:0915”(physical association)	0.590
ATP11B	TMEM30A	psi-mi:“MI:0915”(physical association)	0.590
ATP11B	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
ARRDC5	PLPP1	psi-mi:“MI:0914”(association)	0.350
LGALS3	SDCBP	psi-mi:“MI:0914”(association)	0.350
FLVCR2	PLPP1	psi-mi:“MI:0914”(association)	0.350
MFSD4A	TIMM23	psi-mi:“MI:0914”(association)	0.350
RHCG	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC19A3	SNAP23	psi-mi:“MI:0914”(association)	0.350
SLC26A3	FLOT1	psi-mi:“MI:0914”(association)	0.350
SLC2A1	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
SLC43A3	PLPP3	psi-mi:“MI:0914”(association)	0.350
SLC46A2	SNAP23	psi-mi:“MI:0914”(association)	0.350
SLC5A12	PLPP3	psi-mi:“MI:0914”(association)	0.350
SLC6A7	ABCB1	psi-mi:“MI:0914”(association)	0.350
SLC7A2	SCAMP3	psi-mi:“MI:0914”(association)	0.350
SLC7A4	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLCO1B3	SNAP23	psi-mi:“MI:0914”(association)	0.350

BioGRID (32): IFNA21 (Affinity Capture-MS), ATP11B (Affinity Capture-RNA), ATP11B (Synthetic Lethality), MSGN1 (Two-hybrid), TCF4 (Two-hybrid), ATP11B (Proximity Label-MS), IFNA21 (Affinity Capture-MS), ATP11B (Affinity Capture-MS), ATP11B (Proximity Label-MS), ATP11B (Affinity Capture-MS), TMEM230 (Cross-Linking-MS (XL-MS)), ATP11B (Cross-Linking-MS (XL-MS)), ATP6V1E1 (Cross-Linking-MS (XL-MS)), RABEP2 (Cross-Linking-MS (XL-MS)), FRY (Cross-Linking-MS (XL-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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	119
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5307 predictions. Top by Δscore:

Variant	Effect	Δscore
3:182793783:GCTG:G	donor_gain	1.0000
3:182828118:A:AG	acceptor_gain	1.0000
3:182828119:G:GG	acceptor_gain	1.0000
3:182828119:GT:G	acceptor_gain	1.0000
3:182828119:GTA:G	acceptor_gain	1.0000
3:182828119:GTAC:G	acceptor_gain	1.0000
3:182828119:GTACA:G	acceptor_gain	1.0000
3:182829662:A:AG	acceptor_gain	1.0000
3:182829663:T:G	acceptor_gain	1.0000
3:182829664:A:AG	acceptor_gain	1.0000
3:182829665:A:G	acceptor_gain	1.0000
3:182829667:TCTA:T	acceptor_loss	1.0000
3:182829668:CTAG:C	acceptor_loss	1.0000
3:182829669:TA:T	acceptor_loss	1.0000
3:182829670:A:AG	acceptor_gain	1.0000
3:182829671:G:GA	acceptor_gain	1.0000
3:182829671:G:GC	acceptor_loss	1.0000
3:182829671:GC:G	acceptor_gain	1.0000
3:182829671:GCT:G	acceptor_gain	1.0000
3:182829671:GCTT:G	acceptor_gain	1.0000
3:182829671:GCTTA:G	acceptor_gain	1.0000
3:182829748:AGCAG:A	donor_loss	1.0000
3:182829749:GCAG:G	donor_gain	1.0000
3:182829750:CAGG:C	donor_loss	1.0000
3:182829751:AGGTA:A	donor_loss	1.0000
3:182829752:GG:G	donor_loss	1.0000
3:182829753:GTAT:G	donor_loss	1.0000
3:182829754:T:G	donor_loss	1.0000
3:182836022:T:TA	acceptor_gain	1.0000
3:182836033:AG:A	acceptor_gain	1.0000

AlphaMissense

7754 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:182828179:C:A	N68K	1.000
3:182828179:C:G	N68K	1.000
3:182828186:T:C	F71L	1.000
3:182828188:T:A	F71L	1.000
3:182828188:T:G	F71L	1.000
3:182828190:T:C	L72P	1.000
3:182829705:A:C	S90R	1.000
3:182829707:T:A	S90R	1.000
3:182829707:T:G	S90R	1.000
3:182829741:G:C	A102P	1.000
3:182829742:C:A	A102D	1.000
3:182829749:G:C	K104N	1.000
3:182829749:G:T	K104N	1.000
3:182836044:G:C	D109H	1.000
3:182836054:G:C	R112P	1.000
3:182836346:G:T	G143V	1.000
3:182836355:T:A	V146D	1.000
3:182857916:T:C	L297P	1.000
3:182857936:A:C	S304R	1.000
3:182857938:C:A	S304R	1.000
3:182857938:C:G	S304R	1.000
3:182859202:T:C	L348P	1.000
3:182859219:C:A	P354T	1.000
3:182859219:C:T	P354S	1.000
3:182859220:C:A	P354Q	1.000
3:182859220:C:G	P354R	1.000
3:182859340:T:C	L394P	1.000
3:182865474:G:C	D407H	1.000
3:182865475:A:C	D407A	1.000
3:182865475:A:G	D407G	1.000

dbSNP variants (sampled 300 via entrez): RS1000004635 (3:182820782 C>T), RS1000061203 (3:182900787 T>C), RS1000067842 (3:182810568 A>C), RS1000068988 (3:182854837 A>C,T), RS1000101156 (3:182807737 C>G), RS1000125099 (3:182798158 T>C), RS1000127472 (3:182897193 G>A), RS1000136939 (3:182803812 A>G), RS1000155621 (3:182849268 C>A,G), RS1000192177 (3:182861349 G>C), RS1000214471 (3:182817725 T>C,G), RS1000228078 (3:182849594 G>T), RS1000258058 (3:182848020 C>G), RS1000260983 (3:182913924 G>A), RS1000261570 (3:182868812 A>C,G)

Disease associations

OMIM: gene MIM:605869 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST003158_3	Subjective response to lithium treatment	9.000000e-07
GCST003772_6	Loneliness (linear analysis)	9.000000e-06
GCST003996_27	Monobrow	2.000000e-31
GCST006095_4	Excessive hairiness	8.000000e-09
GCST007576_386	Chronotype	2.000000e-13
GCST007576_387	Chronotype	7.000000e-10
GCST007576_78	Chronotype	2.000000e-13
GCST90002385_441	High light scatter reticulocyte count	1.000000e-10
GCST90002386_565	High light scatter reticulocyte percentage of red cells	4.000000e-12
GCST90002391_6	Mean corpuscular hemoglobin concentration	4.000000e-14

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007865	loneliness measurement
EFO:0007906	synophrys measurement
EFO:0008328	chronotype measurement
EFO:0007986	reticulocyte count
EFO:0004528	mean corpuscular hemoglobin concentration

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	5
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
dicrotophos	decreases expression	1
geldanamycin	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
sodium arsenite	increases expression, decreases reaction, affects methylation	1
butyraldehyde	decreases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
manganese chloride	decreases expression, increases abundance	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Vorinostat	increases expression	1
Acetaminophen	increases expression	1
Antimycin A	decreases expression	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Manganese	decreases expression, increases abundance	1
Mercuric Chloride	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Rotenone	decreases expression	1

Clinical trials (associated diseases)

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