MRPL52
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Also known as mL52
Summary
MRPL52 (mitochondrial ribosomal protein L52, HGNC:16655) is a protein-coding gene on chromosome 14q11.2, encoding Large ribosomal subunit protein mL52 (Q86TS9).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis.
Source: NCBI Gene 122704 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 34 total
- MANE Select transcript:
NM_180982
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16655 |
| Approved symbol | MRPL52 |
| Name | mitochondrial ribosomal protein L52 |
| Location | 14q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | mL52 |
| Ensembl gene | ENSG00000172590 |
| Ensembl biotype | protein_coding |
| OMIM | 611856 |
| Entrez | 122704 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 11 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000311892, ENST00000355151, ENST00000397496, ENST00000397505, ENST00000432849, ENST00000461594, ENST00000553482, ENST00000553711, ENST00000553965, ENST00000555345, ENST00000555536, ENST00000556214, ENST00000556465, ENST00000556654, ENST00000556840, ENST00000557221, ENST00000557543, ENST00000923455
RefSeq mRNA: 7 — MANE Select: NM_180982
NM_001318870, NM_178336, NM_180982, NM_181304, NM_181305, NM_181306, NM_181307
CCDS: CCDS41917, CCDS41918, CCDS81791, CCDS9575, CCDS9576
Canonical transcript exons
ENST00000397496 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001891228 | 22834172 | 22835037 |
| ENSE00003568817 | 22830053 | 22830110 |
| ENSE00003578043 | 22830187 | 22830254 |
| ENSE00003591692 | 22833418 | 22833482 |
| ENSE00003663306 | 22829887 | 22829940 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 98.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 161.9663 / max 843.6880, expressed in 1828 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 138822 | 161.9663 | 1828 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 98.32 | gold quality |
| apex of heart | UBERON:0002098 | 98.26 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.05 | gold quality |
| body of stomach | UBERON:0001161 | 97.79 | gold quality |
| body of pancreas | UBERON:0001150 | 97.78 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.76 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.60 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.48 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.46 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.44 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.43 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.43 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.31 | gold quality |
| left coronary artery | UBERON:0001626 | 97.31 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.25 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.25 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.24 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.21 | gold quality |
| skin of leg | UBERON:0001511 | 97.19 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.09 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.07 | gold quality |
| esophagus | UBERON:0001043 | 97.06 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.06 | gold quality |
| ascending aorta | UBERON:0001496 | 97.03 | gold quality |
| heart | UBERON:0000948 | 97.00 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.99 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.99 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.94 | gold quality |
| granulocyte | CL:0000094 | 96.92 | gold quality |
| lower esophagus | UBERON:0013473 | 96.91 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting MRPL52, 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-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-4718 | 98.55 | 68.61 | 814 |
| HSA-MIR-122-5P | 97.23 | 64.92 | 1024 |
| HSA-MIR-6735-3P | 96.10 | 63.81 | 600 |
| HSA-MIR-4259 | 95.68 | 65.25 | 582 |
Literature-anchored findings (GeneRIF, showing 1)
- HIF-1-induced mitochondrial ribosome protein L52: a mechanism for breast cancer cellular adaptation and metastatic initiation in response to hypoxia. (PMID:34158854)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl52 | ENSDARG00000090568 |
| mus_musculus | Mrpl52 | ENSMUSG00000010406 |
| rattus_norvegicus | Mrpl52 | ENSRNOG00000039297 |
| drosophila_melanogaster | mRpL52 | FBGN0033208 |
Protein
Protein identifiers
Large ribosomal subunit protein mL52 — Q86TS9 (reviewed: Q86TS9)
Alternative names: 39S ribosomal protein L52, mitochondrial
All UniProt accessions (5): Q86TS9, G3V3U6, G3V4H9, G3V4J1, G5E9P5
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. mL52 connects the central protuberance to the body of the ribosome.
Subcellular location. Mitochondrion.
Similarity. Belongs to the mitochondrion-specific ribosomal protein mL52 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86TS9-1 | 1 | yes |
| Q86TS9-2 | 2 | |
| Q86TS9-3 | 3 | |
| Q86TS9-4 | 4 |
RefSeq proteins (7): NP_001305799, NP_848026, NP_851313, NP_851821, NP_851822, NP_851823, NP_851824 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR034596 | Ribosomal_mL52 | Family |
Pfam: PF18699
UniProt features (17 total): splice variant 4, sequence variant 3, helix 3, strand 2, transit peptide 1, chain 1, sequence conflict 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
73 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OF0 | ELECTRON MICROSCOPY | 2.2 |
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 8QU5 | ELECTRON MICROSCOPY | 2.42 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 7OF7 | ELECTRON MICROSCOPY | 2.5 |
| 7PO4 | ELECTRON MICROSCOPY | 2.56 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7O9M | ELECTRON MICROSCOPY | 2.6 |
| 7OF6 | ELECTRON MICROSCOPY | 2.6 |
| 9CN3 | ELECTRON MICROSCOPY | 2.62 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 7OF2 | ELECTRON MICROSCOPY | 2.7 |
| 7OF3 | ELECTRON MICROSCOPY | 2.7 |
| 7OF4 | ELECTRON MICROSCOPY | 2.7 |
| 9PR4 | ELECTRON MICROSCOPY | 2.77 |
| 9PRA | ELECTRON MICROSCOPY | 2.83 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7QH7 | ELECTRON MICROSCOPY | 2.89 |
| 7ODR | ELECTRON MICROSCOPY | 2.9 |
| 7OF5 | ELECTRON MICROSCOPY | 2.9 |
| 8OIT | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8QSJ | ELECTRON MICROSCOPY | 3 |
| 9UWH | ELECTRON MICROSCOPY | 3 |
| 9PGI | ELECTRON MICROSCOPY | 3.02 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86TS9-F1 | 86.30 | 0.70 |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| R-HSA-9937383 | Mitochondrial ribosome-associated quality control |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5368287 | Mitochondrial translation |
| R-HSA-72766 | Translation |
MSigDB gene sets: 147 (showing top):
SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MARTINEZ_RB1_TARGETS_DN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, MCCABE_HOXC6_TARGETS_CANCER_DN, GOCC_MITOCHONDRIAL_ENVELOPE, AAAGGGA_MIR204_MIR211, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, AFFAR_YY1_TARGETS_DN, CETS1P54_01, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (2): structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1132 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL52 | MRPL55 | Q7Z7F7 | 721 |
| MRPL52 | MRPS30 | Q9NP92 | 638 |
| MRPL52 | RPL26 | P61254 | 586 |
| MRPL52 | RPL6 | Q02878 | 585 |
| MRPL52 | MRPS21 | P82921 | 578 |
| MRPL52 | MRPL1 | Q9BYD6 | 557 |
| MRPL52 | MRPL54 | Q6P161 | 536 |
| MRPL52 | GADD45GIP1 | Q8TAE8 | 524 |
| MRPL52 | MRPL38 | Q96DV4 | 521 |
| MRPL52 | MRPS18A | Q9NVS2 | 519 |
| MRPL52 | MRPL4 | Q9BYD3 | 485 |
| MRPL52 | MRPL33 | O75394 | 476 |
| MRPL52 | MRPL24 | Q96A35 | 473 |
| MRPL52 | KGD4 | P82909 | 457 |
| MRPL52 | MRPL51 | Q4U2R6 | 456 |
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL38 | MRPL52 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| HNRNPA1 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL13 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL27 | MRPL33 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| KIF2C | WDR62 | psi-mi:“MI:0914”(association) | 0.350 |
| Cul1 | GPS1 | psi-mi:“MI:0914”(association) | 0.350 |
| Pcgf1 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL50 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL9 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL1 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| ALYREF | psi-mi:“MI:0914”(association) | 0.350 | |
| MRPL4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL12 | psi-mi:“MI:0914”(association) | 0.350 | |
| FGF8 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| RRS1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| LUC7L | CASC3 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
| rl36a_rl36l_human | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (213): MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS)
ESM2 similar proteins: A1A4P4, A1CH36, A2ALW5, A5AAL8, B0BN56, O42911, O70279, P0C2B7, P58468, P83565, Q0CLE8, Q1ECT8, Q290P4, Q2GVC2, Q3SZ86, Q4G0I0, Q4V7Q1, Q5B4U6, Q5BJW9, Q5RFR4, Q5XJW2, Q61733, Q6RUT7, Q753F1, Q7SDU5, Q7SHR9, Q80ZS3, Q86TS9, Q8BGX2, Q8BK72, Q8CHP5, Q8SPE7, Q8TAE8, Q8VD26, Q8WUQ7, Q96AN5, Q96DF8, Q9BRP8, Q9BSF4, Q9BYN8
Diamond homologs: P0C2B7, Q290P4, Q4V7Q1, Q7JWG9, Q86TS9, Q9D0Y8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL52 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 92 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 |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 25 | 50.3× | 3e-35 |
| Mitochondrial translation | 22 | 49.6× | 5e-31 |
| Mitochondrial translation initiation | 23 | 47.8× | 5e-32 |
| Mitochondrial translation elongation | 23 | 47.8× | 5e-32 |
| Mitochondrial translation termination | 23 | 41.4× | 1e-30 |
| Translation | 26 | 26.4× | 1e-29 |
| SARS-CoV-1 modulates host translation machinery | 5 | 25.3× | 1e-05 |
| Peptide chain elongation | 10 | 20.8× | 9e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 24 | 50.9× | 6e-33 |
| translation | 19 | 23.8× | 3e-19 |
| cytoplasmic translation | 10 | 22.6× | 2e-09 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 14.9× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
660 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:22830111:G:GG | donor_gain | 1.0000 |
| 14:22830251:GCGG:G | donor_gain | 1.0000 |
| 14:22830252:CGGGT:C | donor_loss | 1.0000 |
| 14:22830253:GGGTA:G | donor_loss | 1.0000 |
| 14:22830255:G:T | donor_loss | 1.0000 |
| 14:22830256:T:G | donor_loss | 1.0000 |
| 14:22833470:G:GT | donor_gain | 1.0000 |
| 14:22833483:G:GG | donor_gain | 1.0000 |
| 14:22833516:G:GT | donor_gain | 1.0000 |
| 14:22833521:A:T | donor_gain | 1.0000 |
| 14:22830183:ACAG:A | acceptor_gain | 0.9900 |
| 14:22830253:GG:G | donor_gain | 0.9900 |
| 14:22830254:GG:G | donor_gain | 0.9900 |
| 14:22830255:G:GG | donor_gain | 0.9900 |
| 14:22830471:A:G | donor_gain | 0.9900 |
| 14:22833480:GCA:G | donor_gain | 0.9900 |
| 14:22833517:A:T | donor_gain | 0.9900 |
| 14:22833520:G:GT | donor_gain | 0.9900 |
| 14:22834170:A:AG | acceptor_gain | 0.9900 |
| 14:22834171:G:GG | acceptor_gain | 0.9900 |
| 14:22834247:G:GT | donor_gain | 0.9900 |
| 14:22834258:G:GT | donor_gain | 0.9900 |
| 14:22830182:CACA:C | acceptor_loss | 0.9800 |
| 14:22830184:CAG:C | acceptor_loss | 0.9800 |
| 14:22830185:A:AG | acceptor_gain | 0.9800 |
| 14:22830185:AGG:A | acceptor_loss | 0.9800 |
| 14:22830186:G:GG | acceptor_gain | 0.9800 |
| 14:22830186:G:T | acceptor_loss | 0.9800 |
| 14:22830186:GGCA:G | acceptor_gain | 0.9800 |
| 14:22830514:G:GT | donor_gain | 0.9800 |
AlphaMissense
769 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:22830242:T:A | W49R | 0.972 |
| 14:22830242:T:C | W49R | 0.972 |
| 14:22830244:G:C | W49C | 0.965 |
| 14:22830244:G:T | W49C | 0.965 |
| 14:22834179:T:A | V77D | 0.965 |
| 14:22833458:A:C | R66S | 0.956 |
| 14:22833458:A:T | R66S | 0.956 |
| 14:22834176:G:C | R76P | 0.946 |
| 14:22830245:T:C | S50P | 0.937 |
| 14:22830243:G:T | W49L | 0.932 |
| 14:22833430:C:A | A57D | 0.931 |
| 14:22830241:C:A | D48E | 0.922 |
| 14:22830241:C:G | D48E | 0.922 |
| 14:22834190:T:C | S81P | 0.919 |
| 14:22830243:G:C | W49S | 0.913 |
| 14:22834188:T:C | L80P | 0.908 |
| 14:22834285:A:C | K112N | 0.904 |
| 14:22834285:A:T | K112N | 0.904 |
| 14:22833424:G:C | R55P | 0.893 |
| 14:22830239:G:C | D48H | 0.892 |
| 14:22833457:G:C | R66T | 0.892 |
| 14:22833480:G:C | A74P | 0.886 |
| 14:22830240:A:T | D48V | 0.885 |
| 14:22830219:G:A | G41E | 0.882 |
| 14:22830104:G:C | R28P | 0.873 |
| 14:22833454:G:C | R65P | 0.861 |
| 14:22833440:G:A | M60I | 0.860 |
| 14:22833440:G:C | M60I | 0.860 |
| 14:22833440:G:T | M60I | 0.860 |
| 14:22830218:G:T | G41W | 0.858 |
dbSNP variants (sampled 300 via entrez): RS1001458828 (14:22835029 T>C), RS1001496993 (14:22828876 G>A,T), RS1001525876 (14:22829490 C>T), RS1001614349 (14:22835450 ATTC>A), RS1001864427 (14:22831069 T>C), RS1001902490 (14:22830876 T>G), RS1002127335 (14:22835090 G>A,C,T), RS1002388542 (14:22830608 A>G), RS1005400061 (14:22833572 T>C), RS1005549084 (14:22834762 C>T), RS1005561287 (14:22828544 C>T), RS1005695367 (14:22828943 G>T), RS1005893736 (14:22829944 A>C), RS1005996176 (14:22834483 T>C), RS1006032571 (14:22830211 C>T)
Disease associations
OMIM: gene MIM:611856 | 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 |
|---|---|---|
| GCST010483_2 | Cardiovascular death, myocardial infarction or stroke in response to clopidogrel treatment | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006919 | cardiovascular event 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 |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment | 3 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| N-benzyloxycarbonylprolylprolinal | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Acrylamide | increases 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): stroke disorder