ATP10D
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Also known as ATPVDKIAA1487
Summary
ATP10D (ATPase phospholipid transporting 10D (putative), HGNC:13549) is a protein-coding gene on chromosome 4p12, encoding Phospholipid-transporting ATPase VD (Q9P241). Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of the plasma membrane.
Enables glycosylceramide flippase activity. Predicted to be involved in phospholipid translocation. Located in endoplasmic reticulum; nucleoplasm; and plasma membrane. Part of phospholipid-translocating ATPase complex.
Source: NCBI Gene 57205 — RefSeq curated summary.
At a glance
- GWAS associations: 19
- Clinical variants (ClinVar): 201 total — 1 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_020453
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13549 |
| Approved symbol | ATP10D |
| Name | ATPase phospholipid transporting 10D (putative) |
| Location | 4p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATPVD, KIAA1487 |
| Ensembl gene | ENSG00000145246 |
| Ensembl biotype | protein_coding |
| OMIM | 619815 |
| Entrez | 57205 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000273859, ENST00000503288, ENST00000504445, ENST00000505277, ENST00000505476, ENST00000507889, ENST00000512393, ENST00000907879, ENST00000907880, ENST00000907881, ENST00000917244, ENST00000917246, ENST00000951777
RefSeq mRNA: 1 — MANE Select: NM_020453
NM_020453
CCDS: CCDS3476
Canonical transcript exons
ENST00000273859 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001122033 | 47535902 | 47536033 |
| ENSE00001122038 | 47535509 | 47535615 |
| ENSE00001122042 | 47525557 | 47525642 |
| ENSE00001210501 | 47546624 | 47546862 |
| ENSE00001210504 | 47536686 | 47536938 |
| ENSE00001210508 | 47536437 | 47536564 |
| ENSE00001210512 | 47591042 | 47593486 |
| ENSE00001210524 | 47523012 | 47523216 |
| ENSE00001210533 | 47515476 | 47515670 |
| ENSE00001210542 | 47512504 | 47512830 |
| ENSE00001295580 | 47554726 | 47554914 |
| ENSE00001319074 | 47557664 | 47558273 |
| ENSE00001927498 | 47485275 | 47485519 |
| ENSE00003508466 | 47580398 | 47580478 |
| ENSE00003527843 | 47558923 | 47559029 |
| ENSE00003552319 | 47581960 | 47582064 |
| ENSE00003563070 | 47572154 | 47572230 |
| ENSE00003578397 | 47587019 | 47587206 |
| ENSE00003587764 | 47563581 | 47563765 |
| ENSE00003638268 | 47568837 | 47569146 |
| ENSE00003660954 | 47576773 | 47576973 |
| ENSE00003666093 | 47572872 | 47572997 |
| ENSE00003692134 | 47560949 | 47561075 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 95.33.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3892 / max 302.3318, expressed in 1593 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 47553 | 12.5398 | 1589 |
| 47554 | 0.4584 | 245 |
| 47552 | 0.3910 | 202 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 95.33 | gold quality |
| secondary oocyte | CL:0000655 | 94.00 | gold quality |
| placenta | UBERON:0001987 | 93.94 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.68 | gold quality |
| upper leg skin | UBERON:0004262 | 93.35 | gold quality |
| oocyte | CL:0000023 | 93.13 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 93.01 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.77 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.77 | gold quality |
| gingiva | UBERON:0001828 | 92.38 | gold quality |
| skin of hip | UBERON:0001554 | 92.30 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.24 | gold quality |
| hair follicle | UBERON:0002073 | 91.87 | gold quality |
| thoracic aorta | UBERON:0001515 | 91.76 | gold quality |
| ascending aorta | UBERON:0001496 | 91.71 | gold quality |
| tibia | UBERON:0000979 | 90.83 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 90.55 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 90.42 | gold quality |
| renal glomerulus | UBERON:0000074 | 90.40 | gold quality |
| penis | UBERON:0000989 | 90.35 | gold quality |
| metanephros | UBERON:0000081 | 90.14 | gold quality |
| aorta | UBERON:0000947 | 89.73 | gold quality |
| cauda epididymis | UBERON:0004360 | 89.62 | gold quality |
| blood vessel layer | UBERON:0004797 | 89.54 | gold quality |
| caput epididymis | UBERON:0004358 | 89.53 | gold quality |
| urethra | UBERON:0000057 | 89.30 | gold quality |
| right coronary artery | UBERON:0001625 | 89.28 | gold quality |
| squamous epithelium | UBERON:0006914 | 89.14 | gold quality |
| oral cavity | UBERON:0000167 | 89.08 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 89.02 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9221 | yes | 1981.04 |
| E-ANND-3 | yes | 6.15 |
| E-MTAB-9801 | yes | 5.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
95 targeting ATP10D, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| 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-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
Literature-anchored findings (GeneRIF, showing 1)
- The rs2351791 SNP in the Atp10d gene affects the susceptibility for cardiac and intracranial vascular stenosis in the elderly Japanese population. (PMID:24125428)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atp10d | ENSDARG00000078887 |
| mus_musculus | Atp10d | ENSMUSG00000046808 |
| rattus_norvegicus | Atp10d | ENSRNOG00000002312 |
| 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), ATP8B2 (ENSG00000143515), ATP9B (ENSG00000166377), ATP10A (ENSG00000206190)
Protein
Protein identifiers
Phospholipid-transporting ATPase VD — Q9P241 (reviewed: Q9P241)
Alternative names: ATPase class V type 10D, P4-ATPase flippase complex alpha subunit ATP10D
All UniProt accessions (3): Q9P241, H0Y8M7, Q6PEW3
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 glucosylceramide (GlcCer) from the outer to the inner leaflet of the plasma membrane.
Subunit / interactions. Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit ATP10A and an accessory beta subunit TMEM30A.
Subcellular location. Cell membrane. Endoplasmic reticulum membrane.
Tissue specificity. Expressed in placenta and, to a lesser extent, in kidney.
Post-translational modifications. Autophosphorylated at the conserved aspartate of the P-type ATPase signature sequence.
Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P241-1 | 1 | yes |
| Q9P241-2 | 2 |
RefSeq proteins (1): NP_065186* (*=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 beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine(out) + ATP + H2O = a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine(in) + ADP + phosphate + H(+) (RHEA:66036)
UniProt features (67 total): binding site 20, sequence variant 13, topological domain 11, transmembrane region 10, mutagenesis site 5, sequence conflict 3, 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-Q9P241-F1 | 72.97 | 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): 438 (4-aspartylphosphate intermediate)
Ligand- & substrate-binding residues (20): 438; 438; 439; 440; 440; 730; 772; 796; 840; 920; 921; 922 …
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 110–111 | impairs atpase flippase activity. |
| 215 | impairs atpase flippase activity. |
| 381 | impairs atpase flippase activity. |
| 382 | increases atpase flippase activity. |
| 1148–1149 | impairs atpase flippase 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: 240 (showing top):
DITTMER_PTHLH_TARGETS_UP, CREBP1_Q2, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_MONOATOMIC_CATION_TRANSPORT, chr4p12, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, HUTTMANN_B_CLL_POOR_SURVIVAL_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, E4F1_Q6, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, DOUGLAS_BMI1_TARGETS_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION
GO Biological Process (6): monoatomic cation transport (GO:0006812), 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 (9): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), glycosylceramide flippase activity (GO:0140351), nucleotide binding (GO:0000166), transporter activity (GO:0005215), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (6): nucleoplasm (GO:0005654), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), phospholipid-translocating ATPase complex (GO:1990531)
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 |
|---|---|
| monoatomic ion transport | 2 |
| lipid transport | 2 |
| ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| transmembrane transport | 1 |
| phospholipid transport | 1 |
| lipid translocation | 1 |
| transport | 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 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| intramembrane lipid carrier activity | 1 |
| sphingolipid intramembrane carrier activity | 1 |
| flippase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| transporter complex | 1 |
Protein interactions and networks
STRING
1026 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATP10D | CDC50A | Q9NV96 | 639 |
| ATP10D | CDC50B | Q3MIR4 | 551 |
| ATP10D | TMEM86B | Q8N661 | 541 |
| ATP10D | NCEH1 | Q6PIU2 | 524 |
| ATP10D | TRIML1 | Q8N9V2 | 514 |
| ATP10D | BEND5 | Q7L4P6 | 507 |
| ATP10D | MS4A5 | Q9H3V2 | 428 |
| ATP10D | GCAT | O75600 | 427 |
| ATP10D | ATP10A | O60312 | 419 |
| ATP10D | ADGRF5 | Q8IZF2 | 418 |
| ATP10D | DPEP2 | Q9H4A9 | 418 |
| ATP10D | PROX1 | Q92786 | 409 |
| ATP10D | ATP10B | O94823 | 405 |
| ATP10D | TMEM268 | Q5VZI3 | 401 |
| ATP10D | VSNL1 | P28677 | 397 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATP10D | TMEM30A | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATP10D | VMA21 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (9): ATP10D (Affinity Capture-RNA), ATP10D (Proximity Label-MS), ATP10D (Affinity Capture-RNA), ATP10D (Affinity Capture-MS), EPDR1 (Affinity Capture-MS), VMA21 (Affinity Capture-MS), ATP10D (Affinity Capture-MS), ATP10D (Proximity Label-MS), ATP10D (Affinity Capture-RNA)
ESM2 similar proteins: A0A131MCZ8, A3KMI0, A6H8T7, A7T1N0, B1AWN4, B7ZC32, D3ZEY4, D3ZSI8, F4INY4, G0S196, O36028, O54827, O60312, O60353, O60423, O62852, O94823, P21441, P22717, P32660, P34586, P49619, P49620, Q01063, Q03603, Q09891, Q12675, Q2NKY8, Q38SD2, Q39017, Q3UHC2, Q5BJS0, Q5CZZ9, Q5R607, Q5ZI74, Q6P158, Q6P5D3, Q6P5E8, Q6UQ17, Q7L2E3
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
201 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 164 |
| Likely benign | 12 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 58027 | GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3 | Pathogenic |
| 694454 | GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3 | Likely pathogenic |
SpliceAI
4759 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:47493857:T:A | acceptor_gain | 1.0000 |
| 4:47523004:A:AG | acceptor_gain | 1.0000 |
| 4:47523005:A:G | acceptor_gain | 1.0000 |
| 4:47523008:ACAG:A | acceptor_gain | 1.0000 |
| 4:47523009:C:G | acceptor_gain | 1.0000 |
| 4:47523009:CAGG:C | acceptor_loss | 1.0000 |
| 4:47523010:A:AG | acceptor_gain | 1.0000 |
| 4:47523010:AG:A | acceptor_gain | 1.0000 |
| 4:47523011:G:GT | acceptor_gain | 1.0000 |
| 4:47523011:GG:G | acceptor_gain | 1.0000 |
| 4:47523011:GGA:G | acceptor_gain | 1.0000 |
| 4:47523011:GGAA:G | acceptor_gain | 1.0000 |
| 4:47523011:GGAAA:G | acceptor_gain | 1.0000 |
| 4:47523214:CAGGT:C | donor_loss | 1.0000 |
| 4:47523215:AGG:A | donor_loss | 1.0000 |
| 4:47523217:G:GG | donor_gain | 1.0000 |
| 4:47523217:GT:G | donor_loss | 1.0000 |
| 4:47523218:T:A | donor_loss | 1.0000 |
| 4:47525641:CTG:C | donor_loss | 1.0000 |
| 4:47525642:TG:T | donor_loss | 1.0000 |
| 4:47525643:G:GC | donor_loss | 1.0000 |
| 4:47525643:G:GG | donor_gain | 1.0000 |
| 4:47525644:T:A | donor_loss | 1.0000 |
| 4:47525646:AG:A | donor_loss | 1.0000 |
| 4:47525647:G:C | donor_loss | 1.0000 |
| 4:47536709:T:G | acceptor_gain | 1.0000 |
| 4:47536716:A:AG | acceptor_gain | 1.0000 |
| 4:47536716:ATC:A | acceptor_gain | 1.0000 |
| 4:47536717:T:G | acceptor_gain | 1.0000 |
| 4:47536718:C:CA | acceptor_gain | 1.0000 |
AlphaMissense
9372 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:47536891:T:C | F450S | 0.999 |
| 4:47558018:A:C | S727R | 0.999 |
| 4:47558020:C:A | S727R | 0.999 |
| 4:47558020:C:G | S727R | 0.999 |
| 4:47572169:A:C | D1060A | 0.999 |
| 4:47512698:T:A | V53D | 0.998 |
| 4:47535607:T:A | V292D | 0.998 |
| 4:47536855:A:C | D438A | 0.998 |
| 4:47569090:A:T | K1036I | 0.998 |
| 4:47572168:G:C | D1060H | 0.998 |
| 4:47572169:A:T | D1060V | 0.998 |
| 4:47523040:T:A | W172R | 0.997 |
| 4:47523040:T:C | W172R | 0.997 |
| 4:47523139:T:C | C205R | 0.997 |
| 4:47525599:T:C | C245R | 0.997 |
| 4:47535562:G:C | R277T | 0.997 |
| 4:47535597:G:C | G289R | 0.997 |
| 4:47535911:C:T | T298I | 0.997 |
| 4:47536855:A:T | D438V | 0.997 |
| 4:47536885:T:C | M448T | 0.997 |
| 4:47536890:T:C | F450L | 0.997 |
| 4:47536892:T:A | F450L | 0.997 |
| 4:47536892:T:G | F450L | 0.997 |
| 4:47536899:T:C | C453R | 0.997 |
| 4:47558046:C:A | A736D | 0.997 |
| 4:47558049:C:A | A737D | 0.997 |
| 4:47558153:T:C | F772L | 0.997 |
| 4:47558155:T:A | F772L | 0.997 |
| 4:47558155:T:G | F772L | 0.997 |
| 4:47558177:T:C | S780P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000035718 (4:47519704 C>A,G,T), RS10000432 (4:47509764 T>A,C,G), RS1000047450 (4:47518592 A>C), RS1000096519 (4:47562534 G>T), RS10001204 (4:47537187 G>A), RS1000135805 (4:47566226 A>G), RS1000187872 (4:47570649 C>G,T), RS1000187902 (4:47483928 T>C), RS1000233402 (4:47494590 C>T), RS1000233645 (4:47555758 CTT>C,CT,CTTT,CTTTT,CTTTTT,CTTTTTTT), RS1000246200 (4:47559757 C>T), RS1000250701 (4:47566629 T>C), RS10002592 (4:47576174 A>C,G,T), RS10002787 (4:47495794 A>C,G,T), RS1000303556 (4:47581405 G>T)
Disease associations
OMIM: gene MIM:619815 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000493_1 | Sphingolipid levels | 8.000000e-19 |
| GCST001413_10 | Sphingolipid levels | 2.000000e-19 |
| GCST009255_4 | Fourth ventricle volume | 6.000000e-06 |
| GCST009698_33 | Metabolite levels | 5.000000e-06 |
| GCST009698_81 | Metabolite levels | 3.000000e-15 |
| GCST009698_83 | Metabolite levels | 6.000000e-10 |
| GCST009698_85 | Metabolite levels | 4.000000e-13 |
| GCST009698_86 | Metabolite levels | 6.000000e-16 |
| GCST009698_88 | Metabolite levels | 2.000000e-16 |
| GCST009698_89 | Metabolite levels | 2.000000e-17 |
| GCST009698_92 | Metabolite levels | 9.000000e-15 |
| GCST009698_93 | Metabolite levels | 5.000000e-15 |
| GCST009698_94 | Metabolite levels | 3.000000e-08 |
| GCST009698_96 | Metabolite levels | 2.000000e-08 |
| GCST009698_97 | Metabolite levels | 4.000000e-08 |
| GCST012020_1 | Serum metabolite levels | 8.000000e-40 |
| GCST012020_100 | Serum metabolite levels | 3.000000e-24 |
| GCST012020_276 | Serum metabolite levels | 1.000000e-25 |
| GCST012020_277 | Serum metabolite levels | 1.000000e-15 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
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
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 8 |
| Cyclosporine | decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases abundance, affects cotreatment | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | decreases expression, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, increases mutagenesis | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| phenethyl isothiocyanate | increases expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| entinostat | increases 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 | increases expression, affects cotreatment | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | increases expression, affects cotreatment | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cytarabine | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autism