ATP8B4
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Also known as ATPIMKIAA1939
Summary
ATP8B4 (ATPase phospholipid transporting 8B4 (putative), HGNC:13536) is a protein-coding gene on chromosome 15q21.2, encoding Probable phospholipid-transporting ATPase IM (Q8TF62). Component of a P4-ATPase flippase complex 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.
This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 79895 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 193 total — 2 pathogenic
- MANE Select transcript:
NM_024837
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13536 |
| Approved symbol | ATP8B4 |
| Name | ATPase phospholipid transporting 8B4 (putative) |
| Location | 15q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATPIM, KIAA1939 |
| Ensembl gene | ENSG00000104043 |
| Ensembl biotype | protein_coding |
| OMIM | 609123 |
| Entrez | 79895 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 14 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined
ENST00000284509, ENST00000557955, ENST00000558024, ENST00000558203, ENST00000558458, ENST00000558498, ENST00000558829, ENST00000558906, ENST00000558959, ENST00000559726, ENST00000559829, ENST00000559998, ENST00000560161, ENST00000560354, ENST00000560437, ENST00000560479, ENST00000561104, ENST00000561385, ENST00000674213, ENST00000895127, ENST00000895128, ENST00000895129, ENST00000895130, ENST00000895131, ENST00000895132, ENST00000966552, ENST00000966553
RefSeq mRNA: 1 — MANE Select: NM_024837
NM_024837
CCDS: CCDS32238
Canonical transcript exons
ENST00000284509 — 28 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001015182 | 50047351 | 50047464 |
| ENSE00001015187 | 50044594 | 50044692 |
| ENSE00001335315 | 50074127 | 50074185 |
| ENSE00001409398 | 50106939 | 50107008 |
| ENSE00001410822 | 50119123 | 50119233 |
| ENSE00003458760 | 50038768 | 50038829 |
| ENSE00003462316 | 50002153 | 50002223 |
| ENSE00003479631 | 49901092 | 49901239 |
| ENSE00003484702 | 49879376 | 49879459 |
| ENSE00003495337 | 49918839 | 49918950 |
| ENSE00003498008 | 49916934 | 49917039 |
| ENSE00003502436 | 49972582 | 49972790 |
| ENSE00003514055 | 49979617 | 49979813 |
| ENSE00003529878 | 49981206 | 49981294 |
| ENSE00003538639 | 49898068 | 49898251 |
| ENSE00003553728 | 49961977 | 49962020 |
| ENSE00003588538 | 49866346 | 49866484 |
| ENSE00003601952 | 49987391 | 49987549 |
| ENSE00003626253 | 49897292 | 49897515 |
| ENSE00003660187 | 49934017 | 49934182 |
| ENSE00003669068 | 49876278 | 49876523 |
| ENSE00003671300 | 49931119 | 49931307 |
| ENSE00003672617 | 49923379 | 49923494 |
| ENSE00003674000 | 49920246 | 49920410 |
| ENSE00003676761 | 49996677 | 49996759 |
| ENSE00003677893 | 50010845 | 50010917 |
| ENSE00003686704 | 49862245 | 49862375 |
| ENSE00003727775 | 49858238 | 49860475 |
Expression profiles
Bgee: expression breadth ubiquitous, 195 present calls, max score 93.47.
FANTOM5 (CAGE): breadth broad, TPM avg 7.5501 / max 1063.3763, expressed in 514 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 149837 | 2.4484 | 150 |
| 149838 | 1.4202 | 127 |
| 149840 | 0.9212 | 99 |
| 149834 | 0.6783 | 246 |
| 149835 | 0.6192 | 238 |
| 149843 | 0.4768 | 106 |
| 149841 | 0.3149 | 134 |
| 149836 | 0.2258 | 88 |
| 149833 | 0.1837 | 102 |
| 149828 | 0.0856 | 25 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow cell | CL:0002092 | 93.47 | gold quality |
| bone marrow | UBERON:0002371 | 91.07 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.23 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.27 | gold quality |
| left uterine tube | UBERON:0001303 | 86.67 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 85.86 | gold quality |
| monocyte | CL:0000576 | 84.83 | gold quality |
| mononuclear cell | CL:0000842 | 84.52 | gold quality |
| gall bladder | UBERON:0002110 | 84.29 | gold quality |
| leukocyte | CL:0000738 | 84.14 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 84.07 | gold quality |
| adipose tissue | UBERON:0001013 | 80.72 | gold quality |
| connective tissue | UBERON:0002384 | 80.25 | gold quality |
| granulocyte | CL:0000094 | 79.81 | gold quality |
| body of uterus | UBERON:0009853 | 79.76 | gold quality |
| right coronary artery | UBERON:0001625 | 78.37 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.23 | gold quality |
| colonic epithelium | UBERON:0000397 | 77.70 | gold quality |
| omental fat pad | UBERON:0010414 | 76.70 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 76.68 | gold quality |
| peritoneum | UBERON:0002358 | 76.60 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 76.30 | gold quality |
| tibial nerve | UBERON:0001323 | 76.26 | gold quality |
| endocervix | UBERON:0000458 | 75.89 | gold quality |
| sural nerve | UBERON:0015488 | 75.78 | gold quality |
| spleen | UBERON:0002106 | 75.24 | gold quality |
| left coronary artery | UBERON:0001626 | 74.03 | gold quality |
| rectum | UBERON:0001052 | 73.89 | gold quality |
| blood | UBERON:0000178 | 73.59 | gold quality |
| right ovary | UBERON:0002118 | 73.05 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 32.81 |
| E-MTAB-6678 | yes | 26.58 |
| E-HCAD-25 | yes | 15.01 |
| E-CURD-122 | yes | 12.59 |
| E-ANND-3 | yes | 11.58 |
| E-MTAB-9067 | yes | 11.43 |
| E-CURD-112 | yes | 10.08 |
| E-MTAB-9801 | yes | 8.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
102 targeting ATP8B4, 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-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
Literature-anchored findings (GeneRIF, showing 3)
- ATP8B4 gene was associated with a significant increase in the risk of systemic sclerosis. ATP8B4 is overexpressed in systemic sclerosis patients. (PMID:26473621)
- Study did not find statistically significant differences in the frequency of the ATP8B4 rs55687265*C allele between the SSc patients and controls. (PMID:28141915)
- Study found that circATP8B4 in extracellular vesicles isolated from radioresistant U251 glioma cells acts as a U251 miR766 sponge, which may be involved in glioma radioresistance. (PMID:30664179)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atp8b4 | ENSDARG00000079453 |
| mus_musculus | Atp8b4 | ENSMUSG00000060131 |
| rattus_norvegicus | Atp8b4 | ENSRNOG00000031598 |
| drosophila_melanogaster | CG31729 | FBGN0051729 |
| caenorhabditis_elegans | tat-5 | WBGENE00009498 |
| caenorhabditis_elegans | WBGENE00017174 |
Paralogs (13): ATP9A (ENSG00000054793), ATP11B (ENSG00000058063), ATP11A (ENSG00000068650), ATP8B1 (ENSG00000081923), ATP11C (ENSG00000101974), ATP10B (ENSG00000118322), ATP8A1 (ENSG00000124406), ATP8B3 (ENSG00000130270), ATP8A2 (ENSG00000132932), ATP8B2 (ENSG00000143515), ATP10D (ENSG00000145246), ATP9B (ENSG00000166377), ATP10A (ENSG00000206190)
Protein
Protein identifiers
Probable phospholipid-transporting ATPase IM — Q8TF62 (reviewed: Q8TF62)
Alternative names: ATPase class I type 8B member 4, P4-ATPase flippase complex alpha subunit ATP8B4
All UniProt accessions (8): A0A6I8PRR9, A0A6I8PS08, Q8TF62, H0YLC1, H0YLJ1, H0YM66, H0YMB5, H0YMP8
UniProt curated annotations — full annotation on UniProt →
Function. Component of a P4-ATPase flippase complex 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.
Subunit / interactions. Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit. Interacts with beta subunits TMEM30A and TMEM30B.
Subcellular location. Cell membrane. Golgi apparatus.
Tissue specificity. Ubiquitously expressed at moderate levels.
Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
RefSeq proteins (1): NP_079113* (*=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
UniProt features (49 total): binding site 18, topological domain 11, transmembrane region 10, sequence variant 4, region of interest 2, chain 1, compositionally biased region 1, active site 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TF62-F1 | 82.12 | 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): 392 (4-aspartylphosphate intermediate)
Ligand- & substrate-binding residues (18): 392; 392; 393; 394; 394; 496; 537; 560; 594; 674; 675; 676 …
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: 244 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_LIPID_LOCALIZATION, GOBP_GOLGI_ORGANIZATION, GOCC_SECRETORY_VESICLE, GAVIN_FOXP3_TARGETS_CLUSTER_P4, GOCC_SPECIFIC_GRANULE, GOCC_SECRETORY_GRANULE_MEMBRANE
GO Biological Process (5): Golgi organization (GO:0007030), phospholipid translocation (GO:0045332), lipid transport (GO:0006869), phospholipid transport (GO:0015914), lipid translocation (GO:0034204)
GO Molecular Function (8): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), nucleotide binding (GO:0000166), transporter activity (GO:0005215), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (9): Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), specific granule membrane (GO:0035579), tertiary granule membrane (GO:0070821), phospholipid-translocating ATPase complex (GO:1990531), cytoplasm (GO:0005737), endomembrane system (GO:0012505), membrane (GO:0016020)
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 |
|---|---|
| cellular anatomical structure | 3 |
| lipid transport | 2 |
| ATP-dependent activity | 2 |
| secretory granule membrane | 2 |
| organelle organization | 1 |
| endomembrane system organization | 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 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| Golgi apparatus subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| specific granule | 1 |
| tertiary granule | 1 |
| transporter complex | 1 |
| intracellular anatomical structure | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1194 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATP8B4 | CDC50B | Q3MIR4 | 746 |
| ATP8B4 | CDC50A | Q9NV96 | 583 |
| ATP8B4 | SLC27A2 | O14975 | 535 |
| ATP8B4 | DEPDC7 | Q96QD5 | 466 |
| ATP8B4 | FLRT3 | Q9NZU0 | 418 |
| ATP8B4 | RPN2 | P04844 | 412 |
| ATP8B4 | GCFC2 | P16383 | 393 |
| ATP8B4 | C10orf120 | Q5SQS8 | 391 |
| ATP8B4 | ABTB2 | Q8N961 | 379 |
| ATP8B4 | PAXBP1 | Q9Y5B6 | 378 |
| ATP8B4 | MOSPD2 | Q8NHP6 | 363 |
| ATP8B4 | TDRD9 | Q8NDG6 | 342 |
| ATP8B4 | DEPDC4 | Q8N2C3 | 330 |
| ATP8B4 | PARVG | Q9HBI0 | 326 |
| ATP8B4 | CEP128 | Q6ZU80 | 325 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATP8B4 | TMEM30A | psi-mi:“MI:0915”(physical association) | 0.650 |
| ATP8B4 | TMEM30A | psi-mi:“MI:0403”(colocalization) | 0.650 |
| TMEM30A | ATP8B4 | psi-mi:“MI:0915”(physical association) | 0.650 |
| TMEM30A | ATP8B4 | psi-mi:“MI:0403”(colocalization) | 0.650 |
| ATP8B4 | TMEM30B | psi-mi:“MI:0915”(physical association) | 0.570 |
| ATP8B4 | TMEM30B | psi-mi:“MI:0403”(colocalization) | 0.570 |
| TMEM30B | ATP8B4 | psi-mi:“MI:0403”(colocalization) | 0.570 |
| ATP8B4 | ELAVL4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (6): ATP8B4 (Affinity Capture-MS), ATP8B4 (Affinity Capture-RNA), ELAVL4 (Affinity Capture-MS), ATP8B2 (Affinity Capture-MS), TMEM230 (Affinity Capture-MS), ATP8B4 (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, 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
193 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 162 |
| Likely benign | 9 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1526451 | GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056) | Pathogenic |
| 815710 | GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1 | Pathogenic |
SpliceAI
6281 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:49860473:GATC:G | acceptor_loss | 1.0000 |
| 15:49860474:ATCT:A | acceptor_loss | 1.0000 |
| 15:49860475:TCTGG:T | acceptor_loss | 1.0000 |
| 15:49860476:C:CC | acceptor_gain | 1.0000 |
| 15:49860476:C:CG | acceptor_loss | 1.0000 |
| 15:49879456:CAGT:C | acceptor_gain | 1.0000 |
| 15:49897403:T:A | donor_gain | 1.0000 |
| 15:49898066:A:AC | donor_gain | 1.0000 |
| 15:49898067:C:CC | donor_gain | 1.0000 |
| 15:49916929:CCTA:C | donor_loss | 1.0000 |
| 15:49916930:CTA:C | donor_loss | 1.0000 |
| 15:49916932:A:AT | donor_loss | 1.0000 |
| 15:49916933:C:CG | donor_loss | 1.0000 |
| 15:49917036:GTTT:G | acceptor_gain | 1.0000 |
| 15:49917036:GTTTC:G | acceptor_loss | 1.0000 |
| 15:49917037:TTT:T | acceptor_gain | 1.0000 |
| 15:49917038:TT:T | acceptor_gain | 1.0000 |
| 15:49917038:TTCTA:T | acceptor_loss | 1.0000 |
| 15:49917039:TCT:T | acceptor_loss | 1.0000 |
| 15:49917040:C:CC | acceptor_gain | 1.0000 |
| 15:49917040:CTAA:C | acceptor_loss | 1.0000 |
| 15:49917041:T:A | acceptor_loss | 1.0000 |
| 15:49918956:T:C | acceptor_gain | 1.0000 |
| 15:49918956:T:TC | acceptor_gain | 1.0000 |
| 15:49920241:CATA:C | donor_loss | 1.0000 |
| 15:49920242:ATAC:A | donor_gain | 1.0000 |
| 15:49920243:TACC:T | donor_loss | 1.0000 |
| 15:49920244:A:AC | donor_gain | 1.0000 |
| 15:49920245:C:CC | donor_gain | 1.0000 |
| 15:49920245:CCAT:C | donor_gain | 1.0000 |
AlphaMissense
7930 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:49931150:G:C | F537L | 0.999 |
| 15:49931150:G:T | F537L | 0.999 |
| 15:49931152:A:G | F537L | 0.999 |
| 15:49979635:G:C | P339R | 0.999 |
| 15:50010882:C:T | G133E | 0.999 |
| 15:49898085:T:G | D819A | 0.998 |
| 15:49898157:T:A | K795I | 0.998 |
| 15:49917033:G:T | A681D | 0.998 |
| 15:49918856:A:G | L673P | 0.998 |
| 15:49923457:T:A | K560N | 0.998 |
| 15:49923457:T:G | K560N | 0.998 |
| 15:49931223:C:G | R513P | 0.998 |
| 15:49972650:T:G | D392A | 0.998 |
| 15:49972790:A:C | S345R | 0.998 |
| 15:49972790:A:T | S345R | 0.998 |
| 15:49979618:T:G | S345R | 0.998 |
| 15:49979635:G:T | P339H | 0.998 |
| 15:50002200:A:C | S153R | 0.998 |
| 15:50002200:A:T | S153R | 0.998 |
| 15:50002202:T:G | S153R | 0.998 |
| 15:50010882:C:A | G133V | 0.998 |
| 15:50047372:A:C | F60L | 0.998 |
| 15:50047372:A:T | F60L | 0.998 |
| 15:50047374:A:G | F60L | 0.998 |
| 15:49866428:G:C | S1028R | 0.997 |
| 15:49866428:G:T | S1028R | 0.997 |
| 15:49866430:T:G | S1028R | 0.997 |
| 15:49897349:A:C | N880K | 0.997 |
| 15:49897349:A:T | N880K | 0.997 |
| 15:49897352:C:A | K879N | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000002345 (15:49906434 C>A,T), RS1000003259 (15:49949169 A>G), RS1000022730 (15:50073209 A>G), RS1000026309 (15:49863985 T>C), RS1000028187 (15:50076202 A>C), RS1000031116 (15:50145098 A>C), RS1000037190 (15:50040719 T>C), RS1000059487 (15:50121846 T>G), RS1000092854 (15:50146380 A>G), RS1000094187 (15:50033348 A>G), RS1000098985 (15:49862017 A>G), RS1000100016 (15:50076356 G>A), RS1000110165 (15:50035678 C>T), RS1000134039 (15:50023929 T>C), RS1000140725 (15:50150545 G>A)
Disease associations
OMIM: gene MIM:609123 | 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 |
|---|---|---|
| GCST002701_22 | Verbal declarative memory | 6.000000e-06 |
| GCST004219_5 | Skin pigmentation | 2.000000e-07 |
| GCST004631_26 | Basophil percentage of white cells | 1.000000e-10 |
| GCST004634_42 | Basophil percentage of granulocytes | 3.000000e-10 |
| GCST004744_1 | Lung adenocarcinoma | 9.000000e-09 |
| GCST004748_35 | Lung cancer | 3.000000e-06 |
| GCST005976_10 | White blood cell count (basophil) | 6.000000e-13 |
| GCST007269_150 | Pulse pressure | 9.000000e-09 |
| GCST009856_23 | Leukocyte telomere length | 1.000000e-07 |
| GCST90002380_30 | Basophil percentage of white cells | 1.000000e-12 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
| EFO:0006805 | word list delayed recall measurement |
| EFO:0006806 | paragraph delayed recall measurement |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0007995 | basophil percentage of granulocytes |
| EFO:0005090 | basophil count |
| EFO:0005763 | pulse pressure 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
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Vorinostat | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation, increases methylation | 2 |
| GSK-J4 | decreases expression | 1 |
| aminomethylphosphonic acid (AMPA) | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | affects methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, affects cotreatment | 1 |
| chromium hexavalent ion | increases abundance, decreases 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, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Boron Compounds | decreases expression | 1 |
| Cadmium | decreases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 2,4-Dichlorophenoxyacetic Acid | decreases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Tungsten Compounds | decreases expression | 1 |
| Particulate Matter | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): lung adenocarcinoma, lung carcinoma