MZT1
gene geneOn this page
Also known as LOC440145FLJ21869MGC150539RP11-11C5.2MOZART1
Summary
MZT1 (mitotic spindle organizing protein 1, HGNC:33830) is a protein-coding gene on chromosome 13q21.33, encoding Mitotic-spindle organizing protein 1 (Q08AG7). Required for the recruitment and the assembly of the gamma-tubulin ring complex (gTuRC) at the centrosome. It is a common-essential gene (DepMap: required in 92.8% of cancer cell lines).
Involved in gamma-tubulin complex localization. Located in centrosome and spindle. Part of gamma-tubulin ring complex.
Source: NCBI Gene 440145 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 17 total
- Cancer dependency (DepMap): dependent in 92.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001071775
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33830 |
| Approved symbol | MZT1 |
| Name | mitotic spindle organizing protein 1 |
| Location | 13q21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LOC440145, FLJ21869, MGC150539, RP11-11C5.2, MOZART1 |
| Ensembl gene | ENSG00000204899 |
| Ensembl biotype | protein_coding |
| OMIM | 613448 |
| Entrez | 440145 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000377818
RefSeq mRNA: 1 — MANE Select: NM_001071775
NM_001071775
CCDS: CCDS31990
Canonical transcript exons
ENST00000377818 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001475211 | 72708367 | 72710345 |
| ENSE00001475212 | 72718952 | 72719097 |
| ENSE00001829898 | 72727524 | 72727629 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 96.27.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.7108 / max 465.3557, expressed in 1811 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137577 | 33.4581 | 1810 |
| 137579 | 1.3286 | 640 |
| 137578 | 0.5792 | 372 |
| 137580 | 0.3449 | 190 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar vermis | UBERON:0004720 | 96.27 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.54 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.01 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.58 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.60 | gold quality |
| putamen | UBERON:0001874 | 93.19 | gold quality |
| ventricular zone | UBERON:0003053 | 93.10 | gold quality |
| tibialis anterior | UBERON:0001385 | 92.72 | silver quality |
| oviduct epithelium | UBERON:0004804 | 92.38 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 92.19 | gold quality |
| deltoid | UBERON:0001476 | 91.91 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 91.22 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.22 | gold quality |
| secondary oocyte | CL:0000655 | 90.73 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.58 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 90.23 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.13 | gold quality |
| quadriceps femoris | UBERON:0001377 | 89.86 | gold quality |
| upper arm skin | UBERON:0004263 | 89.82 | silver quality |
| biceps brachii | UBERON:0001507 | 89.81 | gold quality |
| globus pallidus | UBERON:0001875 | 89.77 | gold quality |
| medial globus pallidus | UBERON:0002477 | 89.65 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.62 | gold quality |
| parietal lobe | UBERON:0001872 | 89.44 | gold quality |
| vastus lateralis | UBERON:0001379 | 89.39 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.39 | gold quality |
| cerebellum | UBERON:0002037 | 89.28 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.24 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.21 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.18 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-88 | yes | 3.95 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
155 targeting MZT1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 92.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- MZT1 is a ‘priming factor’ for gamma-tubulin ring complex that allows spatial regulation of nucleation. (PMID:27852835)
- NMR secondary structure and interactions of recombinant human MOZART1 protein with its binding partner, GCP3, has been presented. (PMID:28851027)
- MZT Proteins Form Multi-Faceted Structural Modules in the gamma-Tubulin Ring Complex. (PMID:32610146)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mzt1 | ENSDARG00000096668 |
| mus_musculus | Mzt1 | ENSMUSG00000033186 |
| rattus_norvegicus | Mzt1 | ENSRNOG00000068487 |
Protein
Protein identifiers
Mitotic-spindle organizing protein 1 — Q08AG7 (reviewed: Q08AG7)
Alternative names: Mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1
All UniProt accessions (1): Q08AG7
UniProt curated annotations — full annotation on UniProt →
Function. Required for the recruitment and the assembly of the gamma-tubulin ring complex (gTuRC) at the centrosome. The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation.
Subunit / interactions. Associates with the gamma-tubulin ring complex (gTuRC) consisting of TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6 and gamma-tubulin TUBG1 or TUBG2; within the complex, interacts with TUBGCP3 and TUBGCP6 to form a luminal bridge with actin that stabilizes the initial structure during complex assembly. Interacts with TUBG1.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle.
Similarity. Belongs to the MOZART1 family.
RefSeq proteins (1): NP_001065243* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR022214 | MZT1 | Family |
Pfam: PF12554
UniProt features (8 total): helix 3, initiator methionine 1, chain 1, modified residue 1, sequence variant 1, turn 1
Structure
Experimental structures (PDB)
26 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6L81 | X-RAY DIFFRACTION | 2.2 |
| 6M33 | X-RAY DIFFRACTION | 3.29 |
| 8RX1 | ELECTRON MICROSCOPY | 3.57 |
| 6X0U | ELECTRON MICROSCOPY | 3.6 |
| 7AS4 | ELECTRON MICROSCOPY | 4.13 |
| 9QVN | ELECTRON MICROSCOPY | 4.7 |
| 7QJ0 | ELECTRON MICROSCOPY | 5.32 |
| 9QVM | ELECTRON MICROSCOPY | 6.8 |
| 7QJ1 | ELECTRON MICROSCOPY | 7 |
| 8VRD | ELECTRON MICROSCOPY | 7 |
| 7QJD | ELECTRON MICROSCOPY | 7.1 |
| 7QJ3 | ELECTRON MICROSCOPY | 7.6 |
| 8VRJ | ELECTRON MICROSCOPY | 7.7 |
| 7QJ6 | ELECTRON MICROSCOPY | 7.8 |
| 7QJ9 | ELECTRON MICROSCOPY | 8.1 |
| 8VRK | ELECTRON MICROSCOPY | 8.5 |
| 7QJ2 | ELECTRON MICROSCOPY | 8.6 |
| 7QJ5 | ELECTRON MICROSCOPY | 8.7 |
| 7QJ7 | ELECTRON MICROSCOPY | 8.7 |
| 7QJ8 | ELECTRON MICROSCOPY | 8.7 |
| 7QJ4 | ELECTRON MICROSCOPY | 9 |
| 7QJA | ELECTRON MICROSCOPY | 9.2 |
| 7QJB | ELECTRON MICROSCOPY | 9.2 |
| 7QJC | ELECTRON MICROSCOPY | 16.1 |
| 9I8G | ELECTRON MICROSCOPY | 22.4 |
| 9I8H | ELECTRON MICROSCOPY | 23.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q08AG7-F1 | 93.00 | 0.85 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-380287 | Centrosome maturation |
| R-HSA-453274 | Mitotic G2-G2/M phases |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-68886 | M Phase |
| R-HSA-69275 | G2/M Transition |
| R-HSA-69278 | Cell Cycle, Mitotic |
MSigDB gene sets: 170 (showing top):
chr13q21, GOBP_CHROMOSOME_ORGANIZATION, GOBP_MICROTUBULE_NUCLEATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, PATIL_LIVER_CANCER, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_ORGANELLE_FISSION, GOCC_CENTROSOME, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_ORGANELLE_ASSEMBLY, GOBP_MITOTIC_CELL_CYCLE, FISCHER_DREAM_TARGETS, GOBP_SPINDLE_ASSEMBLY, LINDVALL_IMMORTALIZED_BY_TERT_DN
GO Biological Process (3): gamma-tubulin complex localization (GO:0033566), microtubule nucleation by interphase microtubule organizing center (GO:0051415), mitotic spindle assembly (GO:0090307)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): gamma-tubulin ring complex (GO:0000931), centrosome (GO:0005813), spindle (GO:0005819), cytosol (GO:0005829), interphase microtubule organizing center (GO:0031021), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Cell Cycle, Mitotic | 2 |
| Centrosome maturation | 1 |
| Mitotic Prometaphase | 1 |
| G2/M Transition | 1 |
| M Phase | 1 |
| Mitotic G2-G2/M phases | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| cellular anatomical structure | 2 |
| protein-containing complex localization | 1 |
| microtubule nucleation by microtubule organizing center | 1 |
| mitotic sister chromatid segregation | 1 |
| mitotic spindle organization | 1 |
| spindle assembly | 1 |
| mitotic nuclear division | 1 |
| binding | 1 |
| gamma-tubulin complex | 1 |
| gamma-tubulin small complex | 1 |
| centriole | 1 |
| microtubule cytoskeleton | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1857 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MZT1 | MZT2A | Q6P582 | 995 |
| MZT1 | B8ZZ87 | B8ZZ87 | 989 |
| MZT1 | TUBGCP3 | Q96CW5 | 951 |
| MZT1 | TUBG1 | P23258 | 905 |
| MZT1 | NEDD1 | Q8NHV4 | 894 |
| MZT1 | TUBGCP6 | Q96RT7 | 869 |
| MZT1 | TUBGCP4 | Q9UGJ1 | 865 |
| MZT1 | TUBGCP5 | Q96RT8 | 820 |
| MZT1 | TUBGCP2 | Q9BSJ2 | 763 |
| MZT1 | NME7 | Q9Y5B8 | 735 |
| MZT1 | ERC2 | O15083 | 721 |
| MZT1 | CDK5RAP2 | Q96SN8 | 699 |
| MZT1 | PIBF1 | Q8WXW3 | 603 |
| MZT1 | BORA | Q6PGQ7 | 602 |
| MZT1 | MTO1 | Q9Y2Z2 | 536 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MZT1 | TUBG1 | psi-mi:“MI:0915”(physical association) | 0.770 |
| Mzt2 | TUBG1 | psi-mi:“MI:0914”(association) | 0.560 |
| TRIM72 | MZT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYGB | MZT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MZT1 | CINP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MZT1 | CYGB | psi-mi:“MI:0915”(physical association) | 0.560 |
| MZT1 | TRIM72 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MZT1 | PCNT | psi-mi:“MI:0914”(association) | 0.530 |
| TUBG2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.530 |
| Tubg1 | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| Tubgcp6 | MRE11 | psi-mi:“MI:0914”(association) | 0.350 |
| Tubg1 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| SCAF11 | MRPL3 | psi-mi:“MI:0914”(association) | 0.350 |
| Tubgcp5 | TUBG1 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBGCP2 | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBGCP4 | PZP | psi-mi:“MI:0914”(association) | 0.350 |
| TUBGCP5 | DNAJC6 | psi-mi:“MI:0914”(association) | 0.350 |
| MZT1 | ZC3H18 | psi-mi:“MI:0914”(association) | 0.350 |
| Lgals3bp | CS | psi-mi:“MI:0914”(association) | 0.350 |
| Tubg1 | ZC3H18 | psi-mi:“MI:0914”(association) | 0.350 |
| NEDD1 | ATP5MF-PTCD1 | psi-mi:“MI:0914”(association) | 0.350 |
| NEDD1 | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPK1 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| MZT1 | TUBGCP6 | psi-mi:“MI:0914”(association) | 0.350 |
| CCP110 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCP110 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| FAM187B | DCTN3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (92): APOB (Affinity Capture-MS), CENPF (Affinity Capture-MS), FMR1 (Affinity Capture-MS), LGALS3BP (Affinity Capture-MS), RBBP6 (Affinity Capture-MS), SRSF7 (Affinity Capture-MS), TUBG1 (Affinity Capture-MS), USP11 (Affinity Capture-MS), RGS19 (Affinity Capture-MS), TUBGCP3 (Affinity Capture-MS), SRSF10 (Affinity Capture-MS), TUBGCP2 (Affinity Capture-MS), EXOSC7 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), ZC3H3 (Affinity Capture-MS)
ESM2 similar proteins: A1CQI3, A3KNK7, A7RWP6, B2RYZ5, B5FXZ4, B5XC71, B5XGH3, O12940, O35094, O35226, O35685, O35857, O88746, P0C8Y1, P55035, P55036, Q08AG7, Q0VFD6, Q16186, Q17QG2, Q1DRC2, Q1RMG8, Q2UF96, Q3KPT5, Q58DA0, Q5BDL9, Q5R762, Q5RGJ6, Q5RJU0, Q5U4M5, Q5ZIN1, Q60482, Q63525, Q640V2, Q64537, Q6DH42, Q6GLP4, Q6GN67, Q6P877, Q7ZVK4
Diamond homologs: A1CQI3, A4QYG1, A6S6H9, A7EXZ2, A9NKD9, B5FXZ4, P0C8Y1, P0CF96, P0CP04, P0CP05, Q08AG7, Q0VFD6, Q1DRC2, Q2GVR6, Q5BDL9, Q5U4M5, Q8BUR9, Q9C9T3, Q9M0N8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 37 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 |
|---|---|---|---|
| Recruitment of mitotic centrosome proteins and complexes | 10 | 56.6× | 1e-13 |
| Recruitment of NuMA to mitotic centrosomes | 10 | 48.5× | 4e-13 |
| Loss of Nlp from mitotic centrosomes | 5 | 33.0× | 2e-05 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 5 | 33.0× | 2e-05 |
| AURKA Activation by TPX2 | 5 | 31.7× | 2e-05 |
| Regulation of PLK1 Activity at G2/M Transition | 5 | 26.4× | 5e-05 |
| Anchoring of the basal body to the plasma membrane | 5 | 23.6× | 8e-05 |
| M Phase | 5 | 13.8× | 9e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| microtubule nucleation | 8 | 172.2× | 1e-14 |
| cytoplasmic microtubule organization | 6 | 71.2× | 1e-08 |
| mitotic cell cycle | 8 | 36.9× | 3e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
462 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:72719093:CAGAA:C | acceptor_gain | 1.0000 |
| 13:72719094:AGAA:A | acceptor_gain | 1.0000 |
| 13:72719095:GAA:G | acceptor_gain | 1.0000 |
| 13:72719095:GAAC:G | acceptor_loss | 1.0000 |
| 13:72719096:AA:A | acceptor_gain | 1.0000 |
| 13:72719096:AAC:A | acceptor_loss | 1.0000 |
| 13:72719097:ACT:A | acceptor_loss | 1.0000 |
| 13:72719098:C:CC | acceptor_gain | 1.0000 |
| 13:72719099:T:C | acceptor_loss | 1.0000 |
| 13:72727521:CAC:C | donor_loss | 1.0000 |
| 13:72727522:A:AC | donor_gain | 1.0000 |
| 13:72727522:ACCGT:A | donor_gain | 1.0000 |
| 13:72727523:C:CC | donor_gain | 1.0000 |
| 13:72727523:C:G | donor_loss | 1.0000 |
| 13:72727523:CCGT:C | donor_gain | 1.0000 |
| 13:72727523:CCGTC:C | donor_gain | 1.0000 |
| 13:72710344:GCC:G | acceptor_loss | 0.9900 |
| 13:72710345:CCT:C | acceptor_loss | 0.9900 |
| 13:72710346:CTA:C | acceptor_loss | 0.9900 |
| 13:72710347:T:A | acceptor_loss | 0.9900 |
| 13:72718946:TCCAA:T | donor_loss | 0.9900 |
| 13:72718947:CCAA:C | donor_loss | 0.9900 |
| 13:72718948:CAACC:C | donor_loss | 0.9900 |
| 13:72718949:AAC:A | donor_loss | 0.9900 |
| 13:72718950:A:AT | donor_loss | 0.9900 |
| 13:72710342:CAGC:C | acceptor_gain | 0.9800 |
| 13:72719108:A:AC | acceptor_gain | 0.9800 |
| 13:72719108:A:C | acceptor_gain | 0.9800 |
| 13:72727522:AC:A | donor_gain | 0.9800 |
| 13:72727523:CC:C | donor_gain | 0.9800 |
AlphaMissense
522 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:72719036:A:C | C47W | 1.000 |
| 13:72718974:C:G | R68P | 0.999 |
| 13:72718977:A:G | L67P | 0.999 |
| 13:72718998:A:G | L60S | 0.999 |
| 13:72719007:G:T | P57Q | 0.999 |
| 13:72719016:C:A | G54V | 0.999 |
| 13:72719028:A:G | L50P | 0.999 |
| 13:72719037:C:T | C47Y | 0.999 |
| 13:72719038:A:G | C47R | 0.999 |
| 13:72719061:A:G | L39S | 0.999 |
| 13:72719083:A:G | S32P | 0.999 |
| 13:72718986:A:T | I64N | 0.998 |
| 13:72718989:A:T | V63D | 0.998 |
| 13:72719016:C:T | G54E | 0.998 |
| 13:72719017:C:G | G54R | 0.998 |
| 13:72719017:C:T | G54R | 0.998 |
| 13:72719019:T:G | Q53P | 0.998 |
| 13:72719024:A:C | C51W | 0.998 |
| 13:72719025:C:T | C51Y | 0.998 |
| 13:72719028:A:T | L50H | 0.998 |
| 13:72719046:A:G | L44P | 0.998 |
| 13:72719046:A:T | L44Q | 0.998 |
| 13:72719073:A:G | L35S | 0.998 |
| 13:72718969:C:G | A70P | 0.997 |
| 13:72718986:A:C | I64S | 0.997 |
| 13:72718996:A:G | S61P | 0.997 |
| 13:72719007:G:C | P57R | 0.997 |
| 13:72719022:T:A | E52V | 0.997 |
| 13:72719031:C:G | R49P | 0.997 |
| 13:72719034:A:T | V48E | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000268547 (13:72716598 T>C), RS1000326468 (13:72708874 T>C), RS1000368767 (13:72729530 C>A,T), RS1000543475 (13:72710952 A>G), RS1000959611 (13:72723217 C>T), RS1001013345 (13:72728397 T>C), RS1001062856 (13:72710702 T>C), RS1001197540 (13:72709531 T>C), RS1001328189 (13:72721220 C>T), RS1001343427 (13:72710464 A>T), RS1001602682 (13:72722059 C>T), RS1001649340 (13:72708816 A>T), RS1001658729 (13:72715572 G>A), RS1001849320 (13:72728317 G>A,T), RS1001860895 (13:72724399 A>G)
Disease associations
OMIM: gene MIM:613448 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001636_3 | Obsessive-compulsive disorder | 5.000000e-06 |
| GCST007576_205 | Chronotype | 4.000000e-09 |
| GCST009391_1202 | Metabolite levels | 6.000000e-06 |
| GCST009391_1463 | Metabolite levels | 2.000000e-06 |
| GCST009391_1475 | Metabolite levels | 4.000000e-06 |
| GCST009391_1494 | Metabolite levels | 2.000000e-06 |
| GCST009391_1509 | Metabolite levels | 2.000000e-06 |
| GCST009391_1615 | Metabolite levels | 3.000000e-06 |
| GCST009391_1674 | Metabolite levels | 5.000000e-08 |
| GCST009391_1829 | Metabolite levels | 8.000000e-06 |
| GCST009391_1833 | Metabolite levels | 2.000000e-06 |
| GCST009391_1869 | Metabolite levels | 8.000000e-07 |
| GCST010216_1 | Diastolic blood pressure | 5.000000e-06 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008328 | chronotype measurement |
| EFO:0010418 | triacylglycerol 52:6 measurement |
| EFO:0010406 | triacylglycerol 48:3 measurement |
| EFO:0010407 | triacylglycerol 48:4 measurement |
| EFO:0010416 | triacylglycerol 52:4 measurement |
| EFO:0010417 | triacylglycerol 52:5 measurement |
| EFO:0010378 | phosphatidylcholine 34:4 measurement |
| EFO:0010340 | cholesteryl ester 14:0 measurement |
| EFO:0010411 | triacylglycerol 50:4 measurement |
| EFO:0010412 | triacylglycerol 50:5 measurement |
| EFO:0006945 | diastolic blood pressure change measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, increases abundance | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Testosterone | affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| Aflatoxin B1 | affects expression, increases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| GSK-J4 | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| geldanamycin | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| K 7174 | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Ethanol | decreases expression, increases abundance, affects cotreatment | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Lead | affects expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Theophylline | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1Y4 | Abcam HeLa MZT1 KO | Cancer cell line | Female |
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.