MRPL34
gene geneOn this page
Also known as L34mtMGC2633MGC24974bL34m
Summary
MRPL34 (mitochondrial ribosomal protein L34, HGNC:14488) is a protein-coding gene on chromosome 19p13.11, encoding Large ribosomal subunit protein bL34m (Q9BQ48). It is a selective cancer dependency (DepMap: 87.5% of cell lines).
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.
Source: NCBI Gene 64981 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 29 total
- Cancer dependency (DepMap): dependent in 87.5% of screened cell lines
- MANE Select transcript:
NM_023937
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14488 |
| Approved symbol | MRPL34 |
| Name | mitochondrial ribosomal protein L34 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | L34mt, MGC2633, MGC24974, bL34m |
| Ensembl gene | ENSG00000130312 |
| Ensembl biotype | protein_coding |
| OMIM | 611840 |
| Entrez | 64981 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000252602, ENST00000594999, ENST00000595444, ENST00000597996, ENST00000600434, ENST00000602206
RefSeq mRNA: 6 — MANE Select: NM_023937
NM_001382342, NM_001382343, NM_001400072, NM_001400073, NM_001400074, NM_023937
CCDS: CCDS12356, CCDS92555
Canonical transcript exons
ENST00000252602 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000951654 | 17306166 | 17306843 |
| ENSE00001269253 | 17305872 | 17305957 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 98.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 85.8013 / max 353.2552, expressed in 1827 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 174489 | 81.8084 | 1827 |
| 174484 | 2.2267 | 1042 |
| 174485 | 0.7573 | 431 |
| 174488 | 0.4959 | 298 |
| 174486 | 0.4332 | 251 |
| 174487 | 0.0798 | 49 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 98.12 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.01 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.72 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.65 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.58 | gold quality |
| apex of heart | UBERON:0002098 | 97.56 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.49 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.46 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.22 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.22 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.14 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.09 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.02 | gold quality |
| transverse colon | UBERON:0001157 | 96.99 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.90 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.76 | gold quality |
| lower esophagus | UBERON:0013473 | 96.75 | gold quality |
| muscle of leg | UBERON:0001383 | 96.74 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.69 | gold quality |
| body of stomach | UBERON:0001161 | 96.64 | gold quality |
| left testis | UBERON:0004533 | 96.59 | gold quality |
| right testis | UBERON:0004534 | 96.48 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.45 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.42 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.37 | gold quality |
| heart | UBERON:0000948 | 96.33 | gold quality |
| right coronary artery | UBERON:0001625 | 96.31 | gold quality |
| left coronary artery | UBERON:0001626 | 95.97 | gold quality |
| adrenal gland | UBERON:0002369 | 95.89 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.82 | 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)
14 targeting MRPL34, 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-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-4764-5P | 98.88 | 65.53 | 894 |
| HSA-MIR-367-5P | 98.84 | 67.18 | 902 |
| HSA-MIR-26B-3P | 98.71 | 67.49 | 1102 |
| HSA-MIR-2115-5P | 98.66 | 68.07 | 1191 |
| HSA-MIR-432-5P | 98.00 | 68.13 | 989 |
| HSA-MIR-510-5P | 97.66 | 65.82 | 916 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 87.5% of screened cell lines.
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl34 | ENSDARG00000092954 |
| mus_musculus | Mrpl34 | ENSMUSG00000034880 |
| rattus_norvegicus | Mrpl34 | ENSRNOG00000017552 |
Protein
Protein identifiers
Large ribosomal subunit protein bL34m — Q9BQ48 (reviewed: Q9BQ48)
Alternative names: 39S ribosomal protein L34, mitochondrial
All UniProt accessions (3): Q9BQ48, M0R093, M0R226
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.
Subcellular location. Mitochondrion.
Similarity. Belongs to the bacterial ribosomal protein bL34 family.
RefSeq proteins (6): NP_001369271, NP_001369272, NP_001387001, NP_001387002, NP_001387003, NP_076426* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000271 | Ribosomal_bL34 | Family |
Pfam: PF00468
UniProt features (6 total): helix 3, transit peptide 1, chain 1, modified residue 1
Structure
Experimental structures (PDB)
86 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 |
| 8QU1 | ELECTRON MICROSCOPY | 2.74 |
| 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 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 8OIT | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BQ48-F1 | 80.52 | 0.47 |
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): 71
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: 167 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, AACYNNNNTTCCS_UNKNOWN, TGACCTY_ERR1_Q2, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, CHNG_MULTIPLE_MYELOMA_HYPERPLOID_UP, BURTON_ADIPOGENESIS_5, BERENJENO_TRANSFORMED_BY_RHOA_UP, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (1): structural constituent of ribosome (GO:0003735)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), 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 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar ribosome | 1 |
| mitochondrial matrix | 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
1802 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL34 | MRPL43 | Q8N983 | 581 |
| MRPL34 | MRPL20 | Q9BYC9 | 557 |
| MRPL34 | MRPL24 | Q96A35 | 540 |
| MRPL34 | MRPS15 | P82914 | 535 |
| MRPL34 | CFAP97D1 | B2RV13 | 531 |
| MRPL34 | MRPL41 | Q8IXM3 | 529 |
| MRPL34 | MRPL13 | Q9BYD1 | 524 |
| MRPL34 | MRPL30 | Q8TCC3 | 516 |
| MRPL34 | ABHD8 | Q96I13 | 510 |
| MRPL34 | MRPS14 | O60783 | 503 |
| MRPL34 | MRPS9 | P82933 | 473 |
| MRPL34 | MRPL17 | Q9NRX2 | 469 |
| MRPL34 | MRPL36 | Q9P0J6 | 463 |
| MRPL34 | MRPL46 | Q9H2W6 | 452 |
| MRPL34 | MRPL49 | Q13405 | 447 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL42 | GATC | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL41 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | 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 |
| RPL19 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | 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 |
| 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 |
| ZNF316 | psi-mi:“MI:0914”(association) | 0.350 | |
| ZC3H3 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL34 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL35 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| TRA2A | GAPDHS | psi-mi:“MI:0914”(association) | 0.350 |
| ATAD3A | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| KLF15 | COL6A1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (89): MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Reconstituted Complex), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), RANBP6 (Affinity Capture-MS)
ESM2 similar proteins: A1L1P7, A6ZRW2, A8NN94, B2RZ39, C1BJQ3, F5HIJ5, G2TRP2, O14464, O74464, O94379, O94690, P25348, P25873, P31165, P32344, P36520, P36526, P38064, P42797, P49391, P53921, P82244, Q01607, Q04598, Q04907, Q0E959, Q1K4P1, Q1K7P9, Q1LWG3, Q21454, Q4R319, Q4V7Q1, Q5RB32, Q5WRL1, Q61JI9, Q6H611, Q7S4E7, Q7SB98, Q84JG5, Q84WZ8
Diamond homologs: A0LLH0, A0M0A2, A1AV47, A1BK00, A1S1G8, A1T0M6, A1WWE1, A2RCG1, A3CQP8, A3N3N0, A4SH23, A5G9V7, A5IIK6, A5UD74, A5UID2, A6KXS6, A6VR64, A8AUP4, A8NN94, A8ZRZ2, A9KBT4, A9NE64, B0BTL8, B0TAK6, B0U6I3, B0URU6, B1I8U6, B2FPA7, B2IAR9, B2IMG7, B3H308, B4RDV7, B4SHH3, B4U0T5, B5E2I5, B5EGY1, B5XJP0, B6J8U4, B6YQA4, B8F7T1
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL34 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 49 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 | 24 | 81.9× | 3e-41 |
| Mitochondrial translation | 21 | 80.3× | 7e-36 |
| Mitochondrial translation initiation | 22 | 77.5× | 3e-37 |
| Mitochondrial translation elongation | 22 | 77.5× | 3e-37 |
| Mitochondrial translation termination | 22 | 67.1× | 7e-36 |
| Translation | 21 | 36.2× | 4e-28 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 23 | 81.5× | 2e-37 |
| translation | 16 | 33.5× | 9e-19 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1514 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:17292827:AGGAT:A | acceptor_gain | 1.0000 |
| 19:17292828:GGAT:G | acceptor_gain | 1.0000 |
| 19:17292830:ATCT:A | acceptor_loss | 1.0000 |
| 19:17292831:TCT:T | acceptor_loss | 1.0000 |
| 19:17292832:C:CC | acceptor_gain | 1.0000 |
| 19:17292852:AAGG:A | donor_loss | 1.0000 |
| 19:17292853:AGGTA:A | donor_loss | 1.0000 |
| 19:17292854:GGTA:G | donor_loss | 1.0000 |
| 19:17292855:GTA:G | donor_loss | 1.0000 |
| 19:17292856:T:G | donor_loss | 1.0000 |
| 19:17294307:T:TA | donor_gain | 1.0000 |
| 19:17294327:AT:A | donor_gain | 1.0000 |
| 19:17294328:T:C | donor_gain | 1.0000 |
| 19:17300852:TTA:T | donor_loss | 1.0000 |
| 19:17300854:A:AC | donor_gain | 1.0000 |
| 19:17300854:AC:A | donor_gain | 1.0000 |
| 19:17300854:ACC:A | donor_gain | 1.0000 |
| 19:17300855:C:A | donor_loss | 1.0000 |
| 19:17300855:C:CC | donor_gain | 1.0000 |
| 19:17300855:CC:C | donor_gain | 1.0000 |
| 19:17300855:CCC:C | donor_gain | 1.0000 |
| 19:17300855:CCCG:C | donor_gain | 1.0000 |
| 19:17300855:CCCGT:C | donor_gain | 1.0000 |
| 19:17292829:GAT:G | acceptor_gain | 0.9900 |
| 19:17292830:AT:A | acceptor_gain | 0.9900 |
| 19:17294285:TA:T | donor_loss | 0.9900 |
| 19:17294287:C:G | donor_loss | 0.9900 |
| 19:17294323:A:AC | donor_gain | 0.9900 |
| 19:17294324:C:CC | donor_gain | 0.9900 |
| 19:17294327:A:AC | donor_gain | 0.9900 |
AlphaMissense
578 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:17306278:C:A | R60S | 0.986 |
| 19:17306296:T:A | W66R | 0.980 |
| 19:17306296:T:C | W66R | 0.980 |
| 19:17306277:A:C | K59N | 0.977 |
| 19:17306277:A:T | K59N | 0.977 |
| 19:17306371:A:C | S91R | 0.976 |
| 19:17306373:C:A | S91R | 0.976 |
| 19:17306373:C:G | S91R | 0.976 |
| 19:17306298:G:C | W66C | 0.975 |
| 19:17306298:G:T | W66C | 0.975 |
| 19:17306258:A:C | Y53S | 0.974 |
| 19:17306257:T:C | Y53H | 0.973 |
| 19:17306258:A:G | Y53C | 0.972 |
| 19:17306359:C:A | R87S | 0.970 |
| 19:17306360:G:C | R87P | 0.970 |
| 19:17306283:G:C | K61N | 0.968 |
| 19:17306283:G:T | K61N | 0.968 |
| 19:17306257:T:G | Y53D | 0.967 |
| 19:17306305:C:A | R69S | 0.966 |
| 19:17306345:G:C | R82P | 0.963 |
| 19:17306249:G:A | G50E | 0.961 |
| 19:17306290:C:G | H64D | 0.960 |
| 19:17306374:C:G | H92D | 0.960 |
| 19:17306279:G:C | R60P | 0.959 |
| 19:17306294:G:A | G65D | 0.957 |
| 19:17306342:G:C | R81P | 0.957 |
| 19:17306291:A:C | H64P | 0.954 |
| 19:17306376:T:A | H92Q | 0.952 |
| 19:17306376:T:G | H92Q | 0.952 |
| 19:17306294:G:T | G65V | 0.951 |
dbSNP variants (sampled 300 via entrez): RS1000101771 (19:17303356 C>G,T), RS1000392743 (19:17291692 T>C), RS1000445298 (19:17291424 G>A), RS1000533433 (19:17307178 C>G), RS1000605234 (19:17297394 C>T), RS1001048620 (19:17301212 G>A,C,T), RS1001053746 (19:17292194 C>T), RS1001164710 (19:17302877 G>C), RS1001664500 (19:17297350 C>A,T), RS1002377043 (19:17291556 T>C), RS1002444525 (19:17291319 G>A,T), RS1002558378 (19:17293216 C>T), RS1002652876 (19:17299888 C>A), RS1002871148 (19:17304054 G>A), RS1002898696 (19:17301276 G>A)
Disease associations
OMIM: gene MIM:611840 | 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 |
|---|---|---|
| GCST007394_2 | Mitochondrial DNA copy number | 1.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006312 | mitochondrial DNA measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | increases expression, affects cotreatment | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| corosolic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| Xylitol | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
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.