ATP13A4
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Also known as DKFZp761I1011FLJ37958
Summary
ATP13A4 (ATPase 13A4, HGNC:25422) is a protein-coding gene on chromosome 3q29, encoding Probable cation-transporting ATPase 13A4 (Q4VNC1).
Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity and polyamine transmembrane transporter activity. Predicted to be involved in intracellular calcium ion homeostasis and polyamine transmembrane transport. Predicted to be located in early endosome membrane and recycling endosome membrane. Predicted to be active in endoplasmic reticulum membrane and late endosome membrane.
Source: NCBI Gene 84239 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 237 total — 2 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_032279
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25422 |
| Approved symbol | ATP13A4 |
| Name | ATPase 13A4 |
| Location | 3q29 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp761I1011, FLJ37958 |
| Ensembl gene | ENSG00000127249 |
| Ensembl biotype | protein_coding |
| OMIM | 609556 |
| Entrez | 84239 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 5 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000295548, ENST00000342695, ENST00000392443, ENST00000400270, ENST00000428352, ENST00000437904, ENST00000450950, ENST00000474776, ENST00000482964, ENST00000489140, ENST00000490925, ENST00000901816
RefSeq mRNA: 1 — MANE Select: NM_032279
NM_032279
CCDS: CCDS3304
Canonical transcript exons
ENST00000342695 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001867799 | 193554740 | 193554895 |
| ENSE00003459588 | 193502493 | 193502639 |
| ENSE00003462038 | 193459081 | 193459231 |
| ENSE00003463486 | 193514698 | 193514871 |
| ENSE00003471113 | 193438475 | 193438584 |
| ENSE00003486915 | 193483936 | 193484005 |
| ENSE00003494906 | 193440558 | 193440637 |
| ENSE00003497871 | 193492917 | 193492997 |
| ENSE00003503435 | 193414579 | 193414750 |
| ENSE00003504086 | 193433845 | 193433917 |
| ENSE00003508741 | 193454101 | 193454212 |
| ENSE00003529407 | 193467316 | 193467486 |
| ENSE00003544863 | 193466025 | 193466182 |
| ENSE00003548851 | 193493090 | 193493160 |
| ENSE00003562890 | 193457000 | 193457153 |
| ENSE00003579536 | 193442393 | 193442556 |
| ENSE00003584997 | 193435648 | 193435744 |
| ENSE00003593657 | 193457379 | 193457465 |
| ENSE00003594001 | 193412178 | 193412371 |
| ENSE00003601588 | 193491329 | 193491398 |
| ENSE00003624119 | 193489730 | 193489864 |
| ENSE00003624698 | 193470859 | 193470993 |
| ENSE00003642740 | 193448206 | 193448330 |
| ENSE00003654785 | 193407313 | 193407393 |
| ENSE00003662706 | 193410982 | 193411070 |
| ENSE00003663744 | 193462762 | 193462823 |
| ENSE00003684948 | 193464940 | 193465128 |
| ENSE00003690642 | 193439023 | 193439065 |
| ENSE00003692053 | 193441466 | 193441588 |
| ENSE00003845789 | 193398967 | 193402864 |
Expression profiles
Bgee: expression breadth ubiquitous, 220 present calls, max score 99.11.
FANTOM5 (CAGE): breadth broad, TPM avg 3.1445 / max 274.5619, expressed in 522 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46169 | 1.0460 | 409 |
| 46163 | 0.7204 | 155 |
| 46162 | 0.5536 | 135 |
| 46166 | 0.2966 | 87 |
| 46164 | 0.1963 | 80 |
| 46167 | 0.1232 | 60 |
| 46168 | 0.1182 | 68 |
| 46165 | 0.0903 | 45 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.11 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.96 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.27 | gold quality |
| thyroid gland | UBERON:0002046 | 97.11 | gold quality |
| right lung | UBERON:0002167 | 96.10 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.26 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.65 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.56 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 92.76 | gold quality |
| lung | UBERON:0002048 | 91.89 | gold quality |
| right uterine tube | UBERON:0001302 | 91.29 | gold quality |
| upper arm skin | UBERON:0004263 | 91.16 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.98 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.86 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.68 | gold quality |
| skin of leg | UBERON:0001511 | 90.64 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.64 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.39 | gold quality |
| corpus callosum | UBERON:0002336 | 90.26 | gold quality |
| globus pallidus | UBERON:0001875 | 89.68 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.36 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 88.81 | gold quality |
| amygdala | UBERON:0001876 | 88.34 | gold quality |
| visceral pleura | UBERON:0002401 | 88.34 | gold quality |
| zone of skin | UBERON:0000014 | 88.21 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.17 | gold quality |
| caudate nucleus | UBERON:0001873 | 88.06 | gold quality |
| gingival epithelium | UBERON:0001949 | 87.88 | gold quality |
| putamen | UBERON:0001874 | 86.48 | gold quality |
| gingiva | UBERON:0001828 | 86.09 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75688 | yes | 359.03 |
| E-HCAD-25 | yes | 22.13 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
117 targeting ATP13A4, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
Literature-anchored findings (GeneRIF, showing 3)
- ATP13A4 is a novel gene coding for a cation-transporting P-type ATPase and is interrupted by 3q25-q29 inversion in an individual with language delay (PMID:15925480)
- mRNA expression of the P5 ATPase ATP13A4 is increased in Broca’s area from subjects with schizophrenia. (PMID:30501451)
- ATP13A4 Upregulation Drives the Elevated Polyamine Transport System in the Breast Cancer Cell Line MCF7. (PMID:37371498)
Cross-species orthologs
14 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atp1a3a | ENSDARG00000018259 |
| danio_rerio | atp2b2 | ENSDARG00000063433 |
| danio_rerio | atp1a3b | ENSDARG00000104139 |
| mus_musculus | Atp13a4 | ENSMUSG00000038094 |
| rattus_norvegicus | Atp13a4 | ENSRNOG00000001714 |
| drosophila_melanogaster | anne | FBGN0052000 |
| drosophila_melanogaster | SPoCk | FBGN0052451 |
| drosophila_melanogaster | CG45062 | FBGN0266432 |
| drosophila_melanogaster | CG45063 | FBGN0266433 |
| caenorhabditis_elegans | WBGENE00000834 | |
| caenorhabditis_elegans | pmr-1 | WBGENE00004063 |
| caenorhabditis_elegans | WBGENE00012341 | |
| caenorhabditis_elegans | WBGENE00015338 | |
| caenorhabditis_elegans | WBGENE00015660 |
Paralogs (21): ATP2C1 (ENSG00000017260), ATP1A2 (ENSG00000018625), ATP2B4 (ENSG00000058668), ATP2C2 (ENSG00000064270), ATP2B3 (ENSG00000067842), ATP2B1 (ENSG00000070961), ATP2A3 (ENSG00000074370), ATP12A (ENSG00000075673), ATP1A3 (ENSG00000105409), ATP4A (ENSG00000105675), ATP13A1 (ENSG00000105726), ATP7B (ENSG00000123191), ATP1A4 (ENSG00000132681), ATP13A3 (ENSG00000133657), ATP2B2 (ENSG00000157087), ATP13A2 (ENSG00000159363), ATP1A1 (ENSG00000163399), ATP7A (ENSG00000165240), ATP2A2 (ENSG00000174437), ATP13A5 (ENSG00000187527), ATP2A1 (ENSG00000196296)
Protein
Protein identifiers
Probable cation-transporting ATPase 13A4 — Q4VNC1 (reviewed: Q4VNC1)
Alternative names: P5-ATPase isoform 4
All UniProt accessions (5): Q4VNC1, B7WPN9, F8W9W3, H0Y4Z2, H7C1P5
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Early endosome membrane. Late endosome membrane. Recycling endosome membrane.
Tissue specificity. Expressed in heart, placenta, liver, skeletal muscles, and pancreas. Lower levels of expression are also detected in brain, lung and kidney. Weakly expressed in the adult brain. Expression in fetal brain is higher than in adult brain, with levels similar to several other fetal tissues including spleen and skeletal muscle. In adult brain expressed at low levels in all tissues examined, including the temporal lobe and putamen. Highly expressed in the respiratory and integumentary systems.
Disease relevance. A chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI) disorders. Paracentric inversion inv(3)(q25;q29). The inversion produces a disruption of the protein.
Induction. Decreased by half in the SLI patient lymphoblasts.
Miscellaneous. Dubious isoform lacking mature mRNA evidence.
Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q4VNC1-1 | 1 | yes |
| Q4VNC1-2 | 2 | |
| Q4VNC1-3 | 3 | |
| Q4VNC1-4 | 4 |
RefSeq proteins (1): NP_115655* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001757 | P_typ_ATPase | Family |
| IPR004014 | ATPase_P-typ_cation-transptr_N | Domain |
| IPR006544 | P-type_TPase_V | 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 |
| IPR036412 | HAD-like_sf | Homologous_superfamily |
| IPR044492 | P_typ_ATPase_HD_dom | Domain |
| IPR047819 | P5A-ATPase_N | Domain |
| IPR047821 | P5B-type_ATPase | Family |
| IPR059000 | ATPase_P-type_domA | Domain |
Pfam: PF00122, PF00690, PF12409, PF13246
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (36 total): topological domain 12, transmembrane region 10, splice variant 4, sequence variant 3, binding site 2, sequence conflict 2, chain 1, intramembrane region 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4VNC1-F1 | 80.48 | 0.25 |
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): 486 (4-aspartylphosphate intermediate)
Ligand- & substrate-binding residues (2): 848; 852
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: 138 (showing top):
BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, NKX25_02, CAGCTG_AP4_Q5, GOBP_MONOATOMIC_CATION_TRANSPORT, OCT1_07, GATA1_03, GOBP_MONOATOMIC_ION_HOMEOSTASIS, POU3F2_02, RFX1_02, VECCHI_GASTRIC_CANCER_EARLY_DN, TGTYNNNNNRGCARM_UNKNOWN, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_LATE_ENDOSOME_MEMBRANE, GOCC_EARLY_ENDOSOME_MEMBRANE, GOBP_HOMEOSTATIC_PROCESS
GO Biological Process (5): intracellular calcium ion homeostasis (GO:0006874), monoatomic ion transmembrane transport (GO:0034220), polyamine transmembrane transport (GO:1902047), transmembrane transport (GO:0055085), monoatomic cation transmembrane transport (GO:0098655)
GO Molecular Function (9): ATP binding (GO:0005524), polyamine transmembrane transporter activity (GO:0015203), P-type ion transporter activity (GO:0015662), ATP hydrolysis activity (GO:0016887), ATPase-coupled monoatomic cation transmembrane transporter activity (GO:0019829), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), transporter activity (GO:0005215), P-type transmembrane transporter activity (GO:0140358)
GO Cellular Component (7): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), early endosome membrane (GO:0031901), late endosome membrane (GO:0031902), recycling endosome membrane (GO:0055038), endosome (GO:0005768), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Ion channel transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endosome membrane | 3 |
| transmembrane transport | 2 |
| ATPase-coupled transmembrane transporter activity | 2 |
| intracellular monoatomic cation homeostasis | 1 |
| calcium ion homeostasis | 1 |
| monoatomic ion transport | 1 |
| polyamine transport | 1 |
| transport | 1 |
| cellular process | 1 |
| monoatomic cation transport | 1 |
| monoatomic ion transmembrane transport | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| transmembrane transporter activity | 1 |
| polyamine transmembrane transport | 1 |
| P-type transmembrane transporter activity | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| ATP-dependent activity | 1 |
| monoatomic cation transmembrane transporter activity | 1 |
| active monoatomic ion transmembrane transporter activity | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| early endosome | 1 |
| late endosome | 1 |
| recycling endosome | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1256 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATP13A4 | ZNF169 | Q14929 | 508 |
| ATP13A4 | SLC38A4 | Q969I6 | 452 |
| ATP13A4 | SLC67A1 | Q96BI1 | 410 |
| ATP13A4 | KIAA0319 | Q5VV43 | 403 |
| ATP13A4 | OR2A2 | Q6IF42 | 398 |
| ATP13A4 | DUSP22 | Q9NRW4 | 396 |
| ATP13A4 | AGPAT2 | O15120 | 391 |
| ATP13A4 | SPATA31A6 | Q5VVP1 | 379 |
| ATP13A4 | H6PD | O95479 | 351 |
| ATP13A4 | OR56A4 | Q8NGH8 | 348 |
| ATP13A4 | SLC12A8 | A0AV02 | 345 |
| ATP13A4 | ATP13A1 | Q9HD20 | 345 |
| ATP13A4 | CNTNAP1 | P78357 | 338 |
| ATP13A4 | GAK | O14976 | 334 |
| ATP13A4 | CNTNAP2 | Q9UHC6 | 332 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATP13A4 | HES4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (1): ATP13A4 (Proximity Label-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: O14022, O74431, P0ABB8, P0ABB9, P22036, P54211, Q12697, Q21286, Q27533, Q3TYU2, Q4VNC0, Q4VNC1, Q5XF89, Q5XF90, Q5ZKB7, Q95JN5, Q9CTG6, Q9H7F0, Q9NQ11, O14072, P13587, P39986, P90747, Q01896, Q04956, Q12691, Q9EPE9, Q9HD20, P22180, P23980, P54679, Q08435, Q08436, Q43128, Q58623, Q9LV11, Q9LY32, Q9SH76, Q9SU58, P57698
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
237 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 1 |
| Uncertain significance | 176 |
| Likely benign | 24 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3247018 | NC_000003.11:g.(?193207380)(193409916_?)del | Pathogenic |
| 562855 | GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 | Pathogenic |
| 545290 | NC_000003.12:g.(?187222939)(194312782_?)del | Likely pathogenic |
SpliceAI
5244 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:193433843:A:AC | donor_gain | 1.0000 |
| 3:193433844:C:CC | donor_gain | 1.0000 |
| 3:193440556:A:AC | donor_gain | 1.0000 |
| 3:193440557:C:CC | donor_gain | 1.0000 |
| 3:193441459:AACTT:A | donor_loss | 1.0000 |
| 3:193441460:ACTTA:A | donor_loss | 1.0000 |
| 3:193441461:CTTAC:C | donor_loss | 1.0000 |
| 3:193441462:TTA:T | donor_loss | 1.0000 |
| 3:193441463:TACCT:T | donor_loss | 1.0000 |
| 3:193441464:A:C | donor_loss | 1.0000 |
| 3:193441465:C:A | donor_loss | 1.0000 |
| 3:193441588:CCTA:C | acceptor_loss | 1.0000 |
| 3:193441589:CTAC:C | acceptor_loss | 1.0000 |
| 3:193441590:T:G | acceptor_loss | 1.0000 |
| 3:193441856:CAAG:C | acceptor_gain | 1.0000 |
| 3:193448202:ATACC:A | donor_loss | 1.0000 |
| 3:193448205:C:CT | donor_loss | 1.0000 |
| 3:193451548:AAGC:A | donor_gain | 1.0000 |
| 3:193454208:GGGTA:G | acceptor_gain | 1.0000 |
| 3:193454209:GGTA:G | acceptor_gain | 1.0000 |
| 3:193454210:GTA:G | acceptor_gain | 1.0000 |
| 3:193454211:TA:T | acceptor_gain | 1.0000 |
| 3:193454212:AC:A | acceptor_loss | 1.0000 |
| 3:193454213:C:CA | acceptor_loss | 1.0000 |
| 3:193454213:C:CC | acceptor_gain | 1.0000 |
| 3:193467311:CTAA:C | donor_loss | 1.0000 |
| 3:193467313:AACC:A | donor_loss | 1.0000 |
| 3:193467314:A:C | donor_loss | 1.0000 |
| 3:193467315:C:G | donor_loss | 1.0000 |
| 3:193467315:CCAGT:C | donor_gain | 1.0000 |
AlphaMissense
7865 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:193439029:G:C | D852E | 0.999 |
| 3:193439029:G:T | D852E | 0.999 |
| 3:193439030:T:A | D852V | 0.999 |
| 3:193439030:T:G | D852A | 0.999 |
| 3:193439030:T:C | D852G | 0.998 |
| 3:193439031:C:G | D852H | 0.998 |
| 3:193464944:T:A | D486V | 0.998 |
| 3:193433888:A:C | F933L | 0.997 |
| 3:193433888:A:T | F933L | 0.997 |
| 3:193433890:A:G | F933L | 0.997 |
| 3:193435684:G:C | S911R | 0.997 |
| 3:193435684:G:T | S911R | 0.997 |
| 3:193435686:T:G | S911R | 0.997 |
| 3:193435736:C:G | R894P | 0.997 |
| 3:193439045:C:T | G847D | 0.997 |
| 3:193442526:G:T | A728D | 0.997 |
| 3:193442527:C:G | A728P | 0.997 |
| 3:193464944:T:G | D486A | 0.997 |
| 3:193464951:A:G | C484R | 0.997 |
| 3:193464956:A:G | L482P | 0.997 |
| 3:193465076:A:T | V442D | 0.997 |
| 3:193489819:A:G | W217R | 0.997 |
| 3:193489819:A:T | W217R | 0.997 |
| 3:193489829:A:C | S213R | 0.997 |
| 3:193489829:A:T | S213R | 0.997 |
| 3:193489831:T:G | S213R | 0.997 |
| 3:193438571:G:T | A859D | 0.996 |
| 3:193440612:G:T | A822E | 0.996 |
| 3:193442553:T:A | D719V | 0.996 |
| 3:193457112:G:C | F601L | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000028191 (3:193470547 A>T), RS1000050929 (3:193407253 T>C), RS1000056930 (3:193547038 A>G), RS1000068344 (3:193452662 A>G), RS1000081943 (3:193470721 C>A,T), RS1000083772 (3:193452890 T>A,C,G), RS1000145938 (3:193447391 G>A), RS1000151355 (3:193594012 C>A,G), RS1000156830 (3:193498936 A>C,G,T), RS1000175350 (3:193560929 T>A), RS1000193161 (3:193528780 C>A), RS1000206070 (3:193561251 C>T), RS1000211788 (3:193426667 G>A,C), RS1000214788 (3:193494272 C>T), RS1000242683 (3:193426461 G>A,T)
Disease associations
OMIM: gene MIM:609556 | disease phenotypes: MIM:181500, MIM:117000
GenCC curated gene-disease
Mondo (2): schizophrenia (MONDO:0005090), central core myopathy (MONDO:0007294)
Orphanet (2): Central core disease (Orphanet:597), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0100753 | Schizophrenia |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009820_1 | Obsession score in obsessive compulsive disorder | 9.000000e-06 |
| GCST012095_24 | Major depressive episode treated with electroconvulsive therapy | 3.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007802 | obsessive-compulsive symptom measurement |
| EFO:0007634 | major depressive episode |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D020512 | Myopathy, Central Core | C05.651.575.300; C10.668.491.550.300 |
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 — P5 P-type ATPases: Mn2+-ATPases
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| methyleugenol | decreases expression | 1 |
| trichostatin A | increases 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 | increases expression, affects cotreatment | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| licochalcone B | increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| Panobinostat | affects cotreatment, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Estradiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00000374 | PHASE4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | PHASE4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | PHASE4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | PHASE4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | PHASE4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | PHASE4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | PHASE4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | PHASE4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | PHASE4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | PHASE4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | PHASE4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | PHASE4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | PHASE4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | PHASE4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | PHASE4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | PHASE4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | PHASE4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | PHASE4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | PHASE4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | PHASE4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | PHASE4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | PHASE4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | PHASE4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
| NCT00148564 | PHASE4 | COMPLETED | Energy Homeostasis Under Treatment With Atypical Antipsychotics |
| NCT00156715 | PHASE4 | COMPLETED | Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder |
| NCT00158223 | PHASE4 | COMPLETED | Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia |
| NCT00159081 | PHASE4 | COMPLETED | One Year Drug Treatment in First-Episode Schizophrenia |
| NCT00159120 | PHASE4 | COMPLETED | Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia |
| NCT00159133 | PHASE4 | COMPLETED | Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia |
| NCT00159757 | PHASE4 | TERMINATED | 12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients |
| NCT00167817 | PHASE4 | COMPLETED | Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study |
| NCT00169026 | PHASE4 | TERMINATED | Alcoholism and Schizophrenia: Effects of Clozapine |
| NCT00169039 | PHASE4 | TERMINATED | Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia |
| NCT00169065 | PHASE4 | COMPLETED | Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia |
| NCT00169091 | PHASE4 | TERMINATED | Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia |
| NCT00176423 | PHASE4 | COMPLETED | Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia |
| NCT00176436 | PHASE4 | COMPLETED | Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients |
| NCT00177008 | PHASE4 | COMPLETED | Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): central core myopathy