ATP8B3
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Also known as ATPIK
Summary
ATP8B3 (ATPase phospholipid transporting 8B3, HGNC:13535) is a protein-coding gene on chromosome 19p13.3, encoding Phospholipid-transporting ATPase IK (O60423). P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids.
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 the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 148229 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 314 total — 1 likely-pathogenic
- MANE Select transcript:
NM_138813
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13535 |
| Approved symbol | ATP8B3 |
| Name | ATPase phospholipid transporting 8B3 |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATPIK |
| Ensembl gene | ENSG00000130270 |
| Ensembl biotype | protein_coding |
| OMIM | 605866 |
| Entrez | 148229 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000310127, ENST00000525591, ENST00000526092, ENST00000526847, ENST00000531925, ENST00000533107, ENST00000533993, ENST00000587160
RefSeq mRNA: 2 — MANE Select: NM_138813
NM_001178002, NM_138813
CCDS: CCDS45901, CCDS54196
Canonical transcript exons
ENST00000310127 — 29 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000655343 | 1792001 | 1792135 |
| ENSE00001246630 | 1811489 | 1811884 |
| ENSE00002165246 | 1782075 | 1783270 |
| ENSE00002197461 | 1812186 | 1812276 |
| ENSE00002836609 | 1806097 | 1806169 |
| ENSE00003476114 | 1805888 | 1805958 |
| ENSE00003480627 | 1810622 | 1810683 |
| ENSE00003503834 | 1785469 | 1785708 |
| ENSE00003509138 | 1796711 | 1796879 |
| ENSE00003512589 | 1789361 | 1789727 |
| ENSE00003515487 | 1789890 | 1789989 |
| ENSE00003520444 | 1790757 | 1790832 |
| ENSE00003533835 | 1805374 | 1805456 |
| ENSE00003542141 | 1784819 | 1784946 |
| ENSE00003543285 | 1801956 | 1802044 |
| ENSE00003544148 | 1785159 | 1785297 |
| ENSE00003560049 | 1787103 | 1787186 |
| ENSE00003574407 | 1791750 | 1791861 |
| ENSE00003588453 | 1802487 | 1802645 |
| ENSE00003590682 | 1796974 | 1797005 |
| ENSE00003613454 | 1808222 | 1808335 |
| ENSE00003615677 | 1806628 | 1806689 |
| ENSE00003618597 | 1796077 | 1796265 |
| ENSE00003622804 | 1800259 | 1800449 |
| ENSE00003625036 | 1788897 | 1789120 |
| ENSE00003636843 | 1795875 | 1795987 |
| ENSE00003655788 | 1799947 | 1800155 |
| ENSE00003658002 | 1809643 | 1809734 |
| ENSE00003785758 | 1807168 | 1807266 |
Expression profiles
Bgee: expression breadth ubiquitous, 169 present calls, max score 90.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8830 / max 137.5809, expressed in 1161 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178067 | 3.7426 | 1148 |
| 178065 | 0.0707 | 35 |
| 178066 | 0.0698 | 23 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 90.78 | gold quality |
| right testis | UBERON:0004534 | 90.67 | gold quality |
| testis | UBERON:0000473 | 88.40 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.52 | gold quality |
| adult organism | UBERON:0007023 | 85.12 | gold quality |
| stromal cell of endometrium | CL:0002255 | 80.63 | gold quality |
| right adrenal gland | UBERON:0001233 | 77.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 76.76 | gold quality |
| granulocyte | CL:0000094 | 76.43 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.84 | gold quality |
| left adrenal gland | UBERON:0001234 | 75.59 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 75.10 | gold quality |
| spleen | UBERON:0002106 | 74.91 | gold quality |
| adrenal cortex | UBERON:0001235 | 73.89 | gold quality |
| sperm | CL:0000019 | 73.06 | silver quality |
| adrenal gland | UBERON:0002369 | 73.02 | gold quality |
| male germ cell | CL:0000015 | 71.23 | silver quality |
| leukocyte | CL:0000738 | 69.85 | gold quality |
| monocyte | CL:0000576 | 69.82 | gold quality |
| mononuclear cell | CL:0000842 | 69.63 | gold quality |
| bone marrow cell | CL:0002092 | 68.85 | gold quality |
| blood | UBERON:0000178 | 68.57 | gold quality |
| right ovary | UBERON:0002118 | 68.43 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 68.25 | gold quality |
| vagina | UBERON:0000996 | 67.98 | gold quality |
| amniotic fluid | UBERON:0000173 | 67.86 | silver quality |
| adrenal tissue | UBERON:0018303 | 67.76 | gold quality |
| oocyte | CL:0000023 | 66.02 | gold quality |
| vermiform appendix | UBERON:0001154 | 65.04 | gold quality |
| ectocervix | UBERON:0012249 | 65.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting ATP8B3, 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-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-29B-1-5P | 98.86 | 68.35 | 1364 |
| HSA-MIR-2355-5P | 98.83 | 65.51 | 1589 |
| HSA-MIR-138-5P | 98.43 | 70.49 | 1292 |
| HSA-MIR-4782-5P | 98.35 | 69.33 | 1474 |
| HSA-MIR-5706 | 98.35 | 69.33 | 1463 |
| HSA-MIR-6826-3P | 98.19 | 66.32 | 1153 |
| HSA-MIR-6842-3P | 98.07 | 66.33 | 1325 |
| HSA-MIR-1245B-3P | 98.01 | 68.91 | 1387 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-1289 | 97.46 | 65.37 | 655 |
| HSA-MIR-10400-3P | 97.29 | 64.66 | 597 |
Literature-anchored findings (GeneRIF, showing 1)
- Association of ATP8B3 gene polymorphisms with aspirin-exacerbated respiratory disease in asthmatics. (PMID:35997042)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atp8b3 | ENSDARG00000042285 |
| mus_musculus | Atp8b3 | ENSMUSG00000003341 |
| rattus_norvegicus | Atp8b3 | ENSRNOG00000024975 |
| 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), ATP8A2 (ENSG00000132932), ATP8B2 (ENSG00000143515), ATP10D (ENSG00000145246), ATP9B (ENSG00000166377), ATP10A (ENSG00000206190)
Protein
Protein identifiers
Phospholipid-transporting ATPase IK — O60423 (reviewed: O60423)
Alternative names: ATPase class I type 8B member 3
All UniProt accessions (5): O60423, F5GZM8, F5H3R9, H0YFS1, K7EJ52
UniProt curated annotations — full annotation on UniProt →
Function. P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signaling molecules. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida.
Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Acrosome membrane. Endoplasmic reticulum membrane.
Tissue specificity. Isoform 3 was only detected in testis.
Miscellaneous. Association with flippase complex beta subunits TMEM30A and TMEM30A has not been detected, neither did their coexpression change the localization in ER.
Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60423-2 | 1 | yes |
| O60423-1 | 2 | |
| O60423-3 | 3 |
RefSeq proteins (2): NP_001171473, NP_620168* (*=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
Catalyzed reactions (Rhea), 1 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)
UniProt features (50 total): binding site 18, topological domain 11, transmembrane region 10, splice variant 3, region of interest 2, compositionally biased region 2, sequence variant 2, chain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60423-F1 | 75.37 | 0.24 |
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): 495 (4-aspartylphosphate intermediate)
Ligand- & substrate-binding residues (18): 495; 495; 496; 497; 497; 596; 637; 660; 693; 763; 764; 765 …
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: 118 (showing top):
GOBP_SINGLE_FERTILIZATION, GOCC_SECRETORY_GRANULE, MODULE_308, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, NF1_Q6_01, GOBP_SPERM_EGG_RECOGNITION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION, GOBP_FERTILIZATION, GOBP_CELL_CELL_RECOGNITION, GOBP_LIPID_LOCALIZATION, GOBP_BINDING_OF_SPERM_TO_ZONA_PELLUCIDA
GO Biological Process (6): Golgi organization (GO:0007030), binding of sperm to zona pellucida (GO:0007339), phospholipid translocation (GO:0045332), establishment of localization in cell (GO:0051649), lipid transport (GO:0006869), phospholipid transport (GO:0015914)
GO Molecular Function (8): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), 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), metal ion binding (GO:0046872)
GO Cellular Component (10): acrosomal membrane (GO:0002080), endoplasmic reticulum membrane (GO:0005789), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), membrane (GO:0016020), phospholipid-translocating ATPase complex (GO:1990531), acrosomal vesicle (GO:0001669), endoplasmic reticulum (GO:0005783), endomembrane system (GO:0012505), cytoplasmic vesicle (GO:0031410)
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 |
|---|---|
| ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| sperm-egg recognition | 1 |
| phospholipid transport | 1 |
| lipid translocation | 1 |
| establishment of localization | 1 |
| cellular localization | 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 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| cation binding | 1 |
| acrosomal vesicle | 1 |
| secretory granule membrane | 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 |
| secretory granule | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
1002 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATP8B3 | CDC50A | Q9NV96 | 578 |
| ATP8B3 | CDC50B | Q3MIR4 | 550 |
| ATP8B3 | MS4A14 | Q96JA4 | 426 |
| ATP8B3 | SLC35F1 | Q5T1Q4 | 395 |
| ATP8B3 | FDXACB1 | Q9BRP7 | 393 |
| ATP8B3 | ATP6AP1L | Q52LC2 | 393 |
| ATP8B3 | SLC4A9 | Q96Q91 | 386 |
| ATP8B3 | C19orf25 | Q9UFG5 | 371 |
| ATP8B3 | SPAG17 | Q6Q759 | 348 |
| ATP8B3 | DYNLT2 | Q8IZS6 | 348 |
| ATP8B3 | ZNF710 | Q8N1W2 | 344 |
| ATP8B3 | DCDC2B | A2VCK2 | 343 |
| ATP8B3 | MMP27 | Q9H306 | 324 |
| ATP8B3 | CLSTN2 | Q9H4D0 | 322 |
| ATP8B3 | SLC13A1 | Q9BZW2 | 317 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATP8B3 | SPTAN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (6): ATP8B3 (Affinity Capture-RNA), SPTAN1 (Proximity Label-MS), ATP8B3 (Affinity Capture-MS), ATP8B3 (Negative Genetic), ATP8B3 (Affinity Capture-MS), ATP8B3 (Affinity Capture-RNA)
ESM2 similar proteins: A3FIN4, D3K0R6, D4AA47, O14072, O23087, O43520, O60423, O75185, O94296, P22189, P23634, P39524, P54678, P57709, P90747, P98194, P98196, P98197, P98198, P98199, P98204, P98205, Q09891, Q10309, Q148W0, Q21286, Q27533, Q3TYU2, Q42883, Q4VNC0, Q4VNC1, Q5BL50, Q5XF90, Q5ZKB7, Q64542, Q6DFW5, Q6Q477, Q6UQ17, Q7XB51, Q8NB49
Diamond homologs: A1A4J6, A3FIN4, B1AWN4, C7EXK4, D4AA47, D4ABB8, F1Q4S1, G0S196, G2X7W6, G5EBH1, O36028, O43520, O43861, O54827, O60312, O60423, O94296, O94823, P32660, P39524, P40527, P57792, P70704, P98195, P98196, P98197, P98198, P98199, P98200, P98204, P98205, Q09891, Q10309, Q12675, Q148W0, Q29449, Q37145, Q5BL50, Q6DFW5, Q6UQ17
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
314 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 259 |
| Likely benign | 32 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 425154 | NM_138813.4(ATP8B3):c.1009C>T (p.Arg337Ter) | Likely pathogenic |
SpliceAI
6073 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:1784814:CTCA:C | donor_loss | 1.0000 |
| 19:1784817:ACCTT:A | donor_loss | 1.0000 |
| 19:1784829:AGCT:A | donor_gain | 1.0000 |
| 19:1784830:G:C | donor_gain | 1.0000 |
| 19:1784907:A:T | acceptor_gain | 1.0000 |
| 19:1785186:CT:C | donor_gain | 1.0000 |
| 19:1787193:C:CT | acceptor_gain | 1.0000 |
| 19:1787193:C:T | acceptor_gain | 1.0000 |
| 19:1787194:G:T | acceptor_gain | 1.0000 |
| 19:1788892:CGCA:C | donor_loss | 1.0000 |
| 19:1788893:GCA:G | donor_loss | 1.0000 |
| 19:1788894:CACC:C | donor_loss | 1.0000 |
| 19:1788895:A:C | donor_loss | 1.0000 |
| 19:1788896:C:CA | donor_loss | 1.0000 |
| 19:1789117:GCGG:G | acceptor_gain | 1.0000 |
| 19:1789118:CGG:C | acceptor_gain | 1.0000 |
| 19:1789118:CGGC:C | acceptor_gain | 1.0000 |
| 19:1789120:GCT:G | acceptor_loss | 1.0000 |
| 19:1789121:C:CC | acceptor_gain | 1.0000 |
| 19:1789121:CTG:C | acceptor_loss | 1.0000 |
| 19:1789359:A:AC | donor_gain | 1.0000 |
| 19:1789360:C:CC | donor_gain | 1.0000 |
| 19:1789360:CT:C | donor_gain | 1.0000 |
| 19:1789424:T:TA | donor_gain | 1.0000 |
| 19:1789424:TCTTG:T | donor_gain | 1.0000 |
| 19:1790751:TCTTA:T | donor_loss | 1.0000 |
| 19:1790752:CTTA:C | donor_loss | 1.0000 |
| 19:1790753:TTA:T | donor_loss | 1.0000 |
| 19:1790755:ACC:A | donor_loss | 1.0000 |
| 19:1790756:C:CA | donor_loss | 1.0000 |
AlphaMissense
8557 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:1789378:T:G | D943A | 0.998 |
| 19:1800015:T:G | D495A | 0.997 |
| 19:1789378:T:A | D943V | 0.996 |
| 19:1789394:C:A | G938W | 0.996 |
| 19:1789402:A:G | L935P | 0.996 |
| 19:1791774:A:G | W760R | 0.996 |
| 19:1791774:A:T | W760R | 0.996 |
| 19:1800015:T:A | D495V | 0.996 |
| 19:1805935:G:C | S258R | 0.996 |
| 19:1805935:G:T | S258R | 0.996 |
| 19:1805937:T:G | S258R | 0.996 |
| 19:1789377:G:C | D943E | 0.995 |
| 19:1789377:G:T | D943E | 0.995 |
| 19:1800016:C:G | D495H | 0.995 |
| 19:1789379:C:G | D943H | 0.994 |
| 19:1789393:C:T | G938E | 0.994 |
| 19:1789399:G:T | A936D | 0.994 |
| 19:1789400:C:G | A936P | 0.994 |
| 19:1791767:A:G | L762P | 0.994 |
| 19:1789009:C:T | G986D | 0.993 |
| 19:1802598:C:A | G318W | 0.993 |
| 19:1789378:T:C | D943G | 0.992 |
| 19:1789475:A:G | C911R | 0.992 |
| 19:1789480:A:T | V909D | 0.992 |
| 19:1789490:A:G | C906R | 0.992 |
| 19:1791797:A:G | L752P | 0.992 |
| 19:1796091:C:G | R643P | 0.992 |
| 19:1796108:G:C | F637L | 0.992 |
| 19:1796108:G:T | F637L | 0.992 |
| 19:1796110:A:G | F637L | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000051791 (19:1810988 C>T), RS1000093288 (19:1798573 T>C), RS1000176746 (19:1788637 G>C), RS1000278363 (19:1792758 A>C), RS1000387416 (19:1803810 C>G,T), RS1000438143 (19:1794070 C>T), RS1000566212 (19:1811815 C>A,T), RS1000621471 (19:1787756 A>C,T), RS1000678039 (19:1807007 C>G), RS1000761433 (19:1784062 A>G,T), RS1000778562 (19:1787986 G>A,C), RS1000793692 (19:1806822 C>A,T), RS1000832168 (19:1797267 G>A), RS1001041997 (19:1793201 C>A,T), RS1001093557 (19:1797468 T>A)
Disease associations
OMIM: gene MIM:605866 | disease phenotypes: MIM:189800
GenCC curated gene-disease
Mondo (1): preeclampsia (MONDO:0005081)
Orphanet (1): Preeclampsia (Orphanet:275555)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_341 | Obesity-related traits | 7.000000e-06 |
| GCST008972_185 | Urate levels | 4.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011225 | Pre-Eclampsia | C12.050.703.395.249 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
3 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs10421558 | ATP8B3 | 0.00 | 0 | ||
| rs10403288 | ATP8B3 | 0.00 | 0 | ||
| rs45574836 | ATP8B3 | 0.00 | 0 |
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
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases methylation, affects cotreatment, increases expression | 9 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | increases methylation, increases mutagenesis | 2 |
| Estradiol | affects cotreatment, increases expression, affects expression, increases reaction | 2 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| lead acetate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| cupric chloride | decreases expression | 1 |
| pentanal | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| ormosil | affects binding, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00117546 | PHASE4 | UNKNOWN | Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia |
| NCT00567957 | PHASE4 | UNKNOWN | Remifentanil for General Anesthesia in Preeclamptics |
| NCT01030627 | PHASE4 | COMPLETED | Treatment Approaches to Preeclampsia |
| NCT01352234 | PHASE4 | COMPLETED | Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia |
| NCT01361425 | PHASE4 | UNKNOWN | Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape) |
| NCT01729468 | PHASE4 | COMPLETED | Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers |
| NCT01761916 | PHASE4 | COMPLETED | Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure |
| NCT01912677 | PHASE4 | COMPLETED | Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy |
| NCT02025426 | PHASE4 | TERMINATED | Phenylephrine Versus Ephedrine in Pre-eclampsia |
| NCT02091401 | PHASE4 | COMPLETED | A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen |
| NCT02163655 | PHASE4 | COMPLETED | Diuretics for Postpartum High Blood Pressure in Preeclampsia |
| NCT02338687 | PHASE4 | COMPLETED | Low Dose Calcium to Prevent Preeclampsia |
| NCT02396030 | PHASE4 | TERMINATED | Different Schemes of Magnesium Sulfate for Preeclampsia |
| NCT02531490 | PHASE4 | UNKNOWN | Early Vascular Adjustments During Hypertensive Pregnancy |
| NCT02699827 | PHASE4 | COMPLETED | Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia |
| NCT02835339 | PHASE4 | COMPLETED | Magnesium Sulfate in Obese Preeclamptics |
| NCT02891174 | PHASE4 | COMPLETED | The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy |
| NCT02911701 | PHASE4 | COMPLETED | Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features |
| NCT03171480 | PHASE4 | COMPLETED | Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia |
| NCT03233880 | PHASE4 | UNKNOWN | Impact of Antichlamydial Treatment on the Rate of Preeclampsia |
| NCT03237000 | PHASE4 | UNKNOWN | Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients |
| NCT03506724 | PHASE4 | COMPLETED | Response to Anti-hypertensives in Pregnant and Postpartum Patients |
| NCT03674606 | PHASE4 | COMPLETED | Trial of Early Screening Test for Pre-eclampsia and Growth Restriction |
| NCT03735433 | PHASE4 | TERMINATED | The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia |
| NCT03824119 | PHASE4 | UNKNOWN | Postpartum NSAIDS and Maternal Hypertension |
| NCT04051567 | PHASE4 | UNKNOWN | Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies |
| NCT04077853 | PHASE4 | COMPLETED | Progesterone in Expectantly Managed Early-onset Preeclampsia |
| NCT04158830 | PHASE4 | WITHDRAWN | Aspirin (ASA) Therapy and Preeclampsia Prevention |
| NCT04424693 | PHASE4 | UNKNOWN | Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36 |
| NCT04631627 | PHASE4 | UNKNOWN | Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort |
| NCT04656665 | PHASE4 | UNKNOWN | The Effectiveness of Aspirin on Preventing Pre-eclampsia |
| NCT04797949 | PHASE4 | WITHDRAWN | Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia |
| NCT04908982 | PHASE4 | UNKNOWN | Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension |
| NCT05221164 | PHASE4 | UNKNOWN | 162 mg of Aspirin for Prevention of Preeclampsia |
| NCT05294952 | PHASE4 | UNKNOWN | co Ihibtory Receptor in Preeclampsia |
| NCT05514847 | PHASE4 | ACTIVE_NOT_RECRUITING | Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients |
| NCT05586373 | PHASE4 | COMPLETED | Ibuprofen vs Dipyrone After C-section in Preeclampsia |
| NCT06069102 | PHASE4 | COMPLETED | Optimal Blood Pressure Treatment Thresholds Postpartum |
| NCT06107335 | PHASE4 | NOT_YET_RECRUITING | Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia |
| NCT06281665 | PHASE4 | RECRUITING | Treatment With Aspirin After Preeclampsia: TAP Trial |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): preeclampsia