MIOS
gene geneOn this page
Also known as FLJ20323MIOSea4Yulink
Summary
MIOS (meiosis regulator for oocyte development, HGNC:21905) is a protein-coding gene on chromosome 7p21.3, encoding GATOR2 complex protein MIOS (Q9NXC5). As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway. It is a selective cancer dependency (DepMap: 46.4% of cell lines).
Predicted to enable zinc ion binding activity. Involved in cellular response to amino acid starvation; positive regulation of TORC1 signaling; and protein-containing complex localization. Located in several cellular components, including cytosol; lysosomal membrane; and nucleoplasm. Part of GATOR2 complex.
Source: NCBI Gene 54468 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 132 total
- Cancer dependency (DepMap): dependent in 46.4% of screened cell lines
- MANE Select transcript:
NM_019005
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21905 |
| Approved symbol | MIOS |
| Name | meiosis regulator for oocyte development |
| Location | 7p21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20323, MIO, Sea4, Yulink |
| Ensembl gene | ENSG00000164654 |
| Ensembl biotype | protein_coding |
| OMIM | 615359 |
| Entrez | 54468 |
Gene structure
Transcript identifiers
Ensembl transcripts: 37 — 34 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000340080, ENST00000405785, ENST00000433056, ENST00000433635, ENST00000445169, ENST00000456533, ENST00000461907, ENST00000479694, ENST00000493227, ENST00000899856, ENST00000899857, ENST00000899858, ENST00000899859, ENST00000899860, ENST00000899861, ENST00000899862, ENST00000899863, ENST00000899864, ENST00000899865, ENST00000899866, ENST00000899867, ENST00000928619, ENST00000963942, ENST00000963943, ENST00000963944, ENST00000963945, ENST00000963946, ENST00000963947, ENST00000963948, ENST00000963949, ENST00000963950, ENST00000963951, ENST00000963952, ENST00000963953, ENST00000963954, ENST00000963955, ENST00000963956
RefSeq mRNA: 5 — MANE Select: NM_019005
NM_001370076, NM_001370077, NM_001370078, NM_001370080, NM_019005
CCDS: CCDS43554
Canonical transcript exons
ENST00000340080 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000671256 | 7574098 | 7574196 |
| ENSE00001086352 | 7572436 | 7573769 |
| ENSE00001277599 | 7606996 | 7608932 |
| ENSE00001538140 | 7568026 | 7568123 |
| ENSE00001538142 | 7567607 | 7567688 |
| ENSE00001821094 | 7566884 | 7567072 |
| ENSE00003496511 | 7605942 | 7606071 |
| ENSE00003504992 | 7589405 | 7589563 |
| ENSE00003524046 | 7585636 | 7585805 |
| ENSE00003594810 | 7583118 | 7583372 |
| ENSE00003614156 | 7588498 | 7588563 |
| ENSE00003659588 | 7596257 | 7596461 |
| ENSE00003661878 | 7594980 | 7595132 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 96.26.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4414 / max 217.0966, expressed in 1788 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 77197 | 7.6593 | 1695 |
| 77199 | 3.6790 | 1480 |
| 77198 | 2.0011 | 1186 |
| 77200 | 0.8949 | 578 |
| 204349 | 0.1860 | 37 |
| 77201 | 0.0212 | 3 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tongue squamous epithelium | UBERON:0006919 | 96.26 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.35 | gold quality |
| sperm | CL:0000019 | 95.01 | gold quality |
| muscle of leg | UBERON:0001383 | 94.63 | gold quality |
| pancreatic ductal cell | CL:0002079 | 94.29 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.03 | gold quality |
| endothelial cell | CL:0000115 | 93.97 | gold quality |
| gingival epithelium | UBERON:0001949 | 93.91 | gold quality |
| deltoid | UBERON:0001476 | 93.77 | gold quality |
| squamous epithelium | UBERON:0006914 | 93.63 | gold quality |
| muscle organ | UBERON:0001630 | 93.48 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.40 | gold quality |
| male germ cell | CL:0000015 | 93.16 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 93.11 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 92.54 | gold quality |
| tongue | UBERON:0001723 | 92.52 | gold quality |
| tonsil | UBERON:0002372 | 92.33 | gold quality |
| gingiva | UBERON:0001828 | 92.21 | gold quality |
| superior surface of tongue | UBERON:0007371 | 91.88 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 91.80 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.76 | gold quality |
| body of tongue | UBERON:0011876 | 91.71 | gold quality |
| cortical plate | UBERON:0005343 | 91.27 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.21 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 91.07 | gold quality |
| triceps brachii | UBERON:0001509 | 90.86 | gold quality |
| body of pancreas | UBERON:0001150 | 90.83 | gold quality |
| gluteal muscle | UBERON:0002000 | 90.80 | gold quality |
| quadriceps femoris | UBERON:0001377 | 90.33 | gold quality |
| vastus lateralis | UBERON:0001379 | 90.26 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.38 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting MIOS, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-4273 | 99.45 | 67.93 | 1206 |
| HSA-MIR-4796-5P | 99.34 | 70.06 | 810 |
| HSA-MIR-593-3P | 99.22 | 67.28 | 1327 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 46.4% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mios | ENSDARG00000102587 |
| mus_musculus | Mios | ENSMUSG00000042447 |
| rattus_norvegicus | Mios | ENSRNOG00000007924 |
| drosophila_melanogaster | mio | FBGN0031399 |
| caenorhabditis_elegans | WBGENE00018193 |
Protein
Protein identifiers
GATOR2 complex protein MIOS — Q9NXC5 (reviewed: Q9NXC5)
Alternative names: Missing oocyte meiosis regulator homolog
All UniProt accessions (4): C9JAQ1, C9JTV2, C9JUE6, Q9NXC5
UniProt curated annotations — full annotation on UniProt →
Function. As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway. The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex. GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1. In the presence of abundant amino acids, the GATOR2 complex mediates ubiquitination of the NPRL2 core component of the GATOR1 complex, leading to GATOR1 inactivation. In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex. Within the GATOR2 complex, MIOS is required to prevent autoubiquitination of WDR24, the catalytic subunit of the complex. The GATOR2 complex is required for brain myelination.
Subunit / interactions. Component of the GATOR2 subcomplex, composed of MIOS, SEC13, SEH1L, WDR24 and WDR59. The GATOR2 complex interacts with CASTOR1 and CASTOR2; the interaction is negatively regulated by arginine. CASTOR1 and CASTOR2 convey leucine availability via direct interaction with MIOS. The GATOR2 complex interacts with SESN1, SESN2 and SESN3; the interaction is negatively regulated by amino acids. Interacts with SAR1A and SAR1B; the interaction is direct, disrupted by leucine and mediates the interaction of SAR1A or SAR1B with the GATOR2 complex to negatively regulate the TORC1 signaling upon leucine deprivation.
Subcellular location. Lysosome membrane.
Activity regulation. The GATOR2 complex is negatively regulated by the upstream amino acid sensors CASTOR1 and SESN2, which sequester the GATOR2 complex in absence of amino acids. In the presence of abundant amino acids, GATOR2 is released from CASTOR1 and SESN2 and activated.
Similarity. Belongs to the WD repeat mio family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NXC5-1 | 1 | yes |
| Q9NXC5-2 | 2 |
RefSeq proteins (5): NP_001357005, NP_001357006, NP_001357007, NP_001357009, NP_061878* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR031488 | Zn_ribbon_mio | Domain |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR037593 | MIOS/Sea4 | Family |
| IPR049092 | MIOS_a-sol | Domain |
Pfam: PF17034, PF21719, PF21720
UniProt features (29 total): binding site 14, repeat 6, modified residue 2, splice variant 2, mutagenesis site 2, zinc finger region 2, chain 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9LWF | ELECTRON MICROSCOPY | 3.41 |
| 9OTI | ELECTRON MICROSCOPY | 3.5 |
| 9LVK | ELECTRON MICROSCOPY | 3.59 |
| 7UHY | ELECTRON MICROSCOPY | 3.66 |
| 9LVJ | ELECTRON MICROSCOPY | 3.82 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NXC5-F1 | 83.29 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (14): 740; 775; 778; 788; 827; 830; 830; 832; 835; 838; 849; 854 …
Post-translational modifications (2): 759, 766
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 560 | impaired assembly of the gator2 complex. |
| 785–788 | impaired amino-acid-mediated mtorc1 activation. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9639288 | Amino acids regulate mTORC1 |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-8953897 | Cellular responses to stimuli |
| R-HSA-9711097 | Cellular response to starvation |
MSigDB gene sets: 134 (showing top):
BROWNE_HCMV_INFECTION_30MIN_DN, MODULE_97, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOCC_VACUOLAR_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_GLIAL_CELL_DEVELOPMENT, MODULE_182, GOBP_NEUROGENESIS, ATGCAGT_MIR217, YY1_Q6, GGCNKCCATNK_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS
GO Biological Process (8): protein-containing complex localization (GO:0031503), cellular response to nutrient levels (GO:0031669), central nervous system myelin formation (GO:0032289), cellular response to amino acid starvation (GO:0034198), oligodendrocyte differentiation (GO:0048709), oligodendrocyte progenitor proliferation (GO:0070444), negative regulation of TORC1 signaling (GO:1904262), positive regulation of TORC1 signaling (GO:1904263)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (8): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), cytosol (GO:0005829), cell junction (GO:0030054), GATOR2 complex (GO:0061700), lysosome (GO:0005764), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Cellular response to starvation | 1 |
| Cellular responses to stimuli | 1 |
| Cellular responses to stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| TORC1 signaling | 2 |
| regulation of TORC1 signaling | 2 |
| macromolecule localization | 1 |
| response to nutrient levels | 1 |
| cellular response to stimulus | 1 |
| central nervous system myelination | 1 |
| myelin assembly | 1 |
| cellular response to starvation | 1 |
| response to amino acid starvation | 1 |
| central nervous system development | 1 |
| glial cell differentiation | 1 |
| gliogenesis | 1 |
| neural precursor cell proliferation | 1 |
| negative regulation of TOR signaling | 1 |
| positive regulation of TOR signaling | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| cytoplasm | 1 |
| protein-containing complex | 1 |
| Seh1-associated complex | 1 |
| lytic vacuole | 1 |
Protein interactions and networks
STRING
1124 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MIOS | WDR59 | Q6PJI9 | 998 |
| MIOS | WDR24 | Q96S15 | 998 |
| MIOS | SEH1L | Q96EE3 | 997 |
| MIOS | SEC13 | P55735 | 996 |
| MIOS | NPRL3 | Q12980 | 840 |
| MIOS | NPRL2 | Q8WTW4 | 827 |
| MIOS | DEPDC5 | O75140 | 809 |
| MIOS | RRAGB | Q5VZM2 | 717 |
| MIOS | RRAGA | Q7L523 | 688 |
| MIOS | RRAGC | Q9HB90 | 668 |
| MIOS | ITFG2 | Q969R8 | 649 |
| MIOS | KICS2 | Q96MD2 | 649 |
| MIOS | CASTOR1 | Q8WTX7 | 640 |
| MIOS | KPTN | Q9Y664 | 618 |
| MIOS | CASTOR2 | A6NHX0 | 617 |
IntAct
107 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR24 | MIOS | psi-mi:“MI:0915”(physical association) | 0.940 |
| MIOS | WDR24 | psi-mi:“MI:0915”(physical association) | 0.940 |
| WDR24 | SESN2 | psi-mi:“MI:0914”(association) | 0.890 |
| SESN2 | WDR24 | psi-mi:“MI:0914”(association) | 0.890 |
| RBBP5 | KMT2D | psi-mi:“MI:0914”(association) | 0.840 |
| MIOS | SEC13 | psi-mi:“MI:0914”(association) | 0.790 |
| CASTOR1 | CASTOR1 | psi-mi:“MI:0914”(association) | 0.770 |
| PFDN4 | PFDN6 | psi-mi:“MI:0914”(association) | 0.730 |
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| SESN2 | MIOS | psi-mi:“MI:0915”(physical association) | 0.710 |
| CASTOR1 | CASTOR2 | psi-mi:“MI:0914”(association) | 0.710 |
| CASTOR1 | MIOS | psi-mi:“MI:0915”(physical association) | 0.710 |
| WDR24 | CASTOR1 | psi-mi:“MI:0914”(association) | 0.690 |
| WDR24 | WDR59 | psi-mi:“MI:0914”(association) | 0.680 |
BioGRID (134): MIOS (Affinity Capture-MS), MIOS (Affinity Capture-MS), MIOS (Affinity Capture-MS), MIOS (Affinity Capture-MS), MIOS (Affinity Capture-MS), MIOS (Affinity Capture-MS), MIOS (Affinity Capture-MS), MIOS (Affinity Capture-MS), MIOS (Affinity Capture-MS), MIOS (Affinity Capture-MS), RRAGA (Affinity Capture-Western), RRAGC (Affinity Capture-Western), MIOS (Affinity Capture-Western), MIOS (Affinity Capture-MS), GATSL3 (Affinity Capture-Western)
ESM2 similar proteins: A0JN62, A2RT67, A4IFB6, E1C3P4, F1QEB7, F1R7R1, O35099, O43264, O54921, O94967, P48553, P51593, Q08CL8, Q08CZ0, Q0VEJ0, Q28G25, Q3TLI0, Q4R350, Q5F3K0, Q5R9R1, Q5RFM4, Q5XH48, Q5XIA4, Q5ZIW2, Q641K1, Q6DE97, Q6NU53, Q6VNB8, Q7TMY8, Q7TSG1, Q7Z6Z7, Q8BH15, Q8CGF6, Q8IWR0, Q8IY22, Q8IZQ1, Q8K1X1, Q8N960, Q8QFR2, Q95LL7
Diamond homologs: A4QNS7, Q5RCA2, Q5U5D4, Q802U2, Q8VE19, Q9NXC5, Q9VQ89, B2VZH2, P38164, Q09866, Q2GVT8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MIOS | “form complex” | GATOR2 | binding |
| MIOS | “form complex” | “CASTOR1-GATOR2 arginine binding complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Amino acids regulate mTORC1 | 10 | 34.5× | 7e-11 |
| Prefoldin mediated transfer of substrate to CCT/TriC | 5 | 34.0× | 6e-05 |
| Cellular response to starvation | 6 | 17.1× | 2e-04 |
| SUMOylation of DNA damage response and repair proteins | 5 | 12.6× | 4e-03 |
| Cilium Assembly | 5 | 9.4× | 9e-03 |
| Organelle biogenesis and maintenance | 6 | 6.8× | 9e-03 |
| Cellular responses to stress | 8 | 5.1× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of TORC1 signaling | 10 | 40.5× | 2e-11 |
| cellular response to amino acid starvation | 8 | 31.8× | 3e-08 |
| positive regulation of TORC1 signaling | 6 | 22.2× | 5e-05 |
| protein folding | 6 | 7.8× | 8e-03 |
| protein stabilization | 7 | 5.8× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
132 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 105 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1783 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:7582747:A:G | donor_gain | 1.0000 |
| 7:7596251:TTGTA:T | acceptor_loss | 1.0000 |
| 7:7596252:TGTA:T | acceptor_loss | 1.0000 |
| 7:7596253:GTAGG:G | acceptor_loss | 1.0000 |
| 7:7596254:TA:T | acceptor_loss | 1.0000 |
| 7:7605936:TCATA:T | acceptor_loss | 1.0000 |
| 7:7605939:TA:T | acceptor_loss | 1.0000 |
| 7:7605940:A:G | acceptor_loss | 1.0000 |
| 7:7605941:G:GA | acceptor_loss | 1.0000 |
| 7:7567068:CTCAG:C | donor_loss | 0.9900 |
| 7:7567069:TCAG:T | donor_loss | 0.9900 |
| 7:7567071:AGGT:A | donor_loss | 0.9900 |
| 7:7567073:GTC:G | donor_loss | 0.9900 |
| 7:7567604:AAG:A | acceptor_gain | 0.9900 |
| 7:7568024:A:AG | acceptor_gain | 0.9900 |
| 7:7568025:G:GG | acceptor_gain | 0.9900 |
| 7:7568025:GTGCT:G | acceptor_gain | 0.9900 |
| 7:7568098:G:GT | donor_gain | 0.9900 |
| 7:7588597:T:G | donor_gain | 0.9900 |
| 7:7594973:GTTTT:G | acceptor_loss | 0.9900 |
| 7:7594974:TTTTA:T | acceptor_loss | 0.9900 |
| 7:7594975:TTTA:T | acceptor_loss | 0.9900 |
| 7:7594976:TTAG:T | acceptor_loss | 0.9900 |
| 7:7594977:TA:T | acceptor_loss | 0.9900 |
| 7:7594978:AG:A | acceptor_gain | 0.9900 |
| 7:7594979:GG:G | acceptor_gain | 0.9900 |
| 7:7595133:G:GG | donor_gain | 0.9900 |
| 7:7595370:GT:G | donor_gain | 0.9900 |
| 7:7596255:A:AG | acceptor_gain | 0.9900 |
| 7:7596256:G:GG | acceptor_gain | 0.9900 |
AlphaMissense
5758 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:7572711:C:A | A79E | 1.000 |
| 7:7572714:T:A | V80D | 1.000 |
| 7:7572716:G:A | G81R | 1.000 |
| 7:7572716:G:C | G81R | 1.000 |
| 7:7572717:G:A | G81E | 1.000 |
| 7:7572728:G:C | G85R | 1.000 |
| 7:7572728:G:T | G85C | 1.000 |
| 7:7572729:G:A | G85D | 1.000 |
| 7:7572729:G:T | G85V | 1.000 |
| 7:7572735:T:A | V87D | 1.000 |
| 7:7572798:T:C | F108S | 1.000 |
| 7:7572816:G:C | R114P | 1.000 |
| 7:7572821:T:C | C116R | 1.000 |
| 7:7572822:G:A | C116Y | 1.000 |
| 7:7572823:T:G | C116W | 1.000 |
| 7:7572831:T:A | L119H | 1.000 |
| 7:7572836:T:A | W121R | 1.000 |
| 7:7572836:T:C | W121R | 1.000 |
| 7:7572838:G:C | W121C | 1.000 |
| 7:7572838:G:T | W121C | 1.000 |
| 7:7572864:C:A | A130D | 1.000 |
| 7:7572866:G:C | A131P | 1.000 |
| 7:7572869:G:C | G132R | 1.000 |
| 7:7572870:G:A | G132D | 1.000 |
| 7:7572878:A:G | K135E | 1.000 |
| 7:7572879:A:C | K135T | 1.000 |
| 7:7572879:A:T | K135M | 1.000 |
| 7:7572880:G:C | K135N | 1.000 |
| 7:7572880:G:T | K135N | 1.000 |
| 7:7572885:G:C | R137T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000245 (7:7598731 G>A,C), RS1000005435 (7:7598567 C>A,G,T), RS1000100277 (7:7602826 A>G), RS1000250949 (7:7575789 C>G), RS1000300538 (7:7583880 TTAAAA>T), RS1000347055 (7:7581245 G>C,T), RS1000361219 (7:7587370 A>C), RS1000425577 (7:7579264 C>A,T), RS1000438272 (7:7598153 G>T), RS1000562929 (7:7576857 A>G), RS1000708800 (7:7582447 G>A), RS1000736245 (7:7589290 G>A), RS1000739877 (7:7582776 G>T), RS1000784593 (7:7605127 A>G), RS1000914816 (7:7594644 T>C)
Disease associations
OMIM: gene MIM:615359 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_1481 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010414 | triacylglycerol 52:2 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 2 |
| Valproic Acid | increases expression, decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Selenium | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1X3 | Abcam HeLa MIOS KO | Cancer cell line | Female |
| CVCL_SY40 | HAP1 MIOS (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.