MRPL24
gene geneOn this page
Also known as MRP-L18uL24m
Summary
MRPL24 (mitochondrial ribosomal protein L24, HGNC:14037) is a protein-coding gene on chromosome 1q23.1, encoding Large ribosomal subunit protein uL24m (Q96A35). It is a selective cancer dependency (DepMap: 38.5% 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 which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein.
Source: NCBI Gene 79590 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mitochondrial disease (Limited, ClinGen)
- GWAS associations: 1
- Clinical variants (ClinVar): 47 total
- Cancer dependency (DepMap): dependent in 38.5% of screened cell lines
- MANE Select transcript:
NM_145729
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14037 |
| Approved symbol | MRPL24 |
| Name | mitochondrial ribosomal protein L24 |
| Location | 1q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRP-L18, uL24m |
| Ensembl gene | ENSG00000143314 |
| Ensembl biotype | protein_coding |
| OMIM | 611836 |
| Entrez | 79590 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 34 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000361531, ENST00000368211, ENST00000412846, ENST00000420938, ENST00000434558, ENST00000478899, ENST00000858113, ENST00000858114, ENST00000858115, ENST00000858116, ENST00000858117, ENST00000858118, ENST00000858119, ENST00000858120, ENST00000858121, ENST00000858122, ENST00000858123, ENST00000858124, ENST00000858125, ENST00000858126, ENST00000858127, ENST00000858128, ENST00000858129, ENST00000915500, ENST00000915501, ENST00000915502, ENST00000915503, ENST00000915504, ENST00000915505, ENST00000915506, ENST00000915507, ENST00000915508, ENST00000966308, ENST00000966309, ENST00000966310
RefSeq mRNA: 2 — MANE Select: NM_145729
NM_024540, NM_145729
CCDS: CCDS1155
Canonical transcript exons
ENST00000361531 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000959208 | 156738343 | 156738438 |
| ENSE00001054758 | 156738522 | 156738764 |
| ENSE00001343250 | 156741012 | 156741088 |
| ENSE00001434575 | 156738031 | 156738134 |
| ENSE00003547363 | 156737303 | 156737534 |
| ENSE00003602731 | 156737646 | 156737776 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 97.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.0940 / max 164.1041, expressed in 1798 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15195 | 20.6385 | 1792 |
| 15196 | 3.3869 | 1557 |
| 15197 | 0.0687 | 16 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 97.81 | gold quality |
| apex of heart | UBERON:0002098 | 97.56 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.39 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.37 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.25 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.19 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.14 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.06 | gold quality |
| muscle of leg | UBERON:0001383 | 96.93 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.90 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.88 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.87 | gold quality |
| pancreas | UBERON:0001264 | 96.79 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 96.78 | silver quality |
| adrenal gland | UBERON:0002369 | 96.68 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.68 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.66 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.57 | gold quality |
| muscle organ | UBERON:0001630 | 96.46 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.43 | gold quality |
| lower esophagus | UBERON:0013473 | 96.42 | gold quality |
| rectum | UBERON:0001052 | 96.39 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.39 | gold quality |
| right uterine tube | UBERON:0001302 | 96.37 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 96.19 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.17 | gold quality |
| heart | UBERON:0000948 | 96.09 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.08 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.97 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.73 |
| E-CURD-112 | no | 3.84 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 38.5% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl24 | ENSDARG00000019222 |
| mus_musculus | Mrpl24 | ENSMUSG00000019710 |
| rattus_norvegicus | mrpl24 | ENSRNOG00000022234 |
| drosophila_melanogaster | mRpL24 | FBGN0031651 |
| caenorhabditis_elegans | mrpl-24 | WBGENE00019076 |
Protein
Protein identifiers
Large ribosomal subunit protein uL24m — Q96A35 (reviewed: Q96A35)
Alternative names: 39S ribosomal protein L24, mitochondrial
All UniProt accessions (4): Q96A35, X6RHI2, X6RIR5, X6RJ73
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 universal ribosomal protein uL24 family.
RefSeq proteins (2): NP_078816, NP_663781* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003256 | Ribosomal_uL24 | Family |
| IPR005824 | KOW | Domain |
| IPR005825 | Ribosomal_uL24_CS | Conserved_site |
| IPR008991 | Translation_prot_SH3-like_sf | Homologous_superfamily |
| IPR014722 | Rib_uL2_dom2 | Homologous_superfamily |
| IPR041988 | Ribosomal_uL24_KOW | Domain |
| IPR057264 | Ribosomal_uL24_C | Domain |
Pfam: PF00467, PF17136
UniProt features (30 total): strand 14, helix 5, sequence conflict 5, turn 2, transit peptide 1, chain 1, domain 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-Q96A35-F1 | 88.92 | 0.64 |
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): 24
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: 163 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_MITOCHONDRIAL_TRANSLATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GGAMTNNNNNTCCY_UNKNOWN, AACWWCAANK_UNKNOWN, GOBP_TRANSLATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, TGCTGAY_UNKNOWN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, KMCATNNWGGA_UNKNOWN, GOCC_MITOCHONDRIAL_ENVELOPE, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, RYTTCCTG_ETS2_B
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)
GO Cellular Component (5): 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 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 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
3311 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL24 | MRPL17 | Q9NRX2 | 753 |
| MRPL24 | MRPL16 | Q9NX20 | 717 |
| MRPL24 | MRPL13 | Q9BYD1 | 705 |
| MRPL24 | MRPL11 | Q9Y3B7 | 689 |
| MRPL24 | MRPL4 | Q9BYD3 | 645 |
| MRPL24 | MRPS14 | O60783 | 644 |
| MRPL24 | MRPL36 | Q9P0J6 | 628 |
| MRPL24 | MRPL20 | Q9BYC9 | 626 |
| MRPL24 | MRPL19 | P49406 | 611 |
| MRPL24 | MRPL33 | O75394 | 604 |
| MRPL24 | MRPL9 | Q9BYD2 | 604 |
| MRPL24 | MRPL21 | Q7Z2W9 | 570 |
| MRPL24 | MRPL1 | Q9BYD6 | 564 |
| MRPL24 | MRPS9 | P82933 | 559 |
| MRPL24 | MRPS18C | Q9Y3D5 | 558 |
IntAct
156 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRPL37 | HSPD1 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| CENPE | CLASP2 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL10 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL42 | GATC | psi-mi:“MI:0914”(association) | 0.530 |
| RPL6 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL28 | MRPL3 | 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 |
| ZC3HAV1 | KHNYN | 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 |
| 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 |
| Ybx1 | MRPS18B | psi-mi:“MI:0915”(physical association) | 0.400 |
| Kctd5 | psi-mi:“MI:0914”(association) | 0.350 | |
| Tnks | SDC2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (275): MRPL24 (Affinity Capture-RNA), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Co-fractionation), MRPL24 (Co-fractionation), MRPL24 (Co-fractionation)
ESM2 similar proteins: A3BN26, A6QPQ5, A9X1A9, O95707, P02385, P08429, P82915, P82916, Q0VC21, Q13084, Q1RP77, Q29MA5, Q2HJJ1, Q2KIB9, Q2TA12, Q2TBK2, Q3SYS0, Q3T197, Q498T4, Q5E996, Q5E9N5, Q5M882, Q5R7B0, Q5RAT0, Q5T653, Q60649, Q641X9, Q66H47, Q6DH02, Q6GPM4, Q7XTG7, Q8GS60, Q8VDP2, Q96A35, Q99N85, Q99N94, Q9BYD6, Q9CPT5, Q9CPX7, Q9CQ06
Diamond homologs: A0ALV7, A0JZ73, A0PM76, A0QL01, A0QSG0, A0R8J1, A1KGJ6, A1R8T4, A1T4R7, A1UBP9, A3PVD6, A4FPL4, A4TEC6, A5U0A1, A6U870, A7GK31, A8EZK5, A8LC45, A9VP88, A9WSU6, B1HMW9, B1MGD6, B1W3Z6, B1YGW1, B2GDV8, B2GJ04, B2HCT2, B3CT16, B3WAK6, B7HJ59, B7HQV5, B7IT30, B7JKD0, B8DB19, B8HCZ5, B8ZSA8, B9DM36, B9IZK5, C1AL49, C1ET50
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL24 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 155 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 | 35 | 38.4× | 2e-45 |
| Mitochondrial translation | 30 | 36.9× | 2e-38 |
| Mitochondrial translation initiation | 32 | 36.2× | 9e-41 |
| Mitochondrial translation elongation | 32 | 36.2× | 9e-41 |
| Mitochondrial translation termination | 32 | 31.4× | 2e-38 |
| Translation | 34 | 18.8× | 6e-33 |
| Peptide chain elongation | 13 | 14.7× | 1e-10 |
| Viral mRNA Translation | 13 | 14.7× | 1e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 34 | 43.1× | 9e-45 |
| translation | 31 | 23.2× | 2e-31 |
| cytoplasmic translation | 13 | 17.6× | 1e-10 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 12.5× | 2e-04 |
| ribosomal small subunit biogenesis | 7 | 11.6× | 3e-04 |
| negative regulation of translation | 8 | 11.4× | 9e-05 |
| mRNA processing | 9 | 5.2× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1295 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:156737535:C:CC | acceptor_gain | 1.0000 |
| 1:156737707:C:CA | donor_gain | 1.0000 |
| 1:156738130:TAATG:T | acceptor_gain | 1.0000 |
| 1:156738132:ATG:A | acceptor_gain | 1.0000 |
| 1:156738132:ATGC:A | acceptor_loss | 1.0000 |
| 1:156738133:TG:T | acceptor_gain | 1.0000 |
| 1:156738134:GC:G | acceptor_loss | 1.0000 |
| 1:156738135:C:CC | acceptor_gain | 1.0000 |
| 1:156738135:C:T | acceptor_loss | 1.0000 |
| 1:156738141:A:T | acceptor_gain | 1.0000 |
| 1:156738340:TACT:T | donor_loss | 1.0000 |
| 1:156738341:A:AC | donor_gain | 1.0000 |
| 1:156738341:A:C | donor_loss | 1.0000 |
| 1:156738342:C:CA | donor_gain | 1.0000 |
| 1:156738342:CT:C | donor_gain | 1.0000 |
| 1:156738342:CTG:C | donor_gain | 1.0000 |
| 1:156738342:CTGT:C | donor_gain | 1.0000 |
| 1:156738389:TGA:T | donor_gain | 1.0000 |
| 1:156738434:TCCAC:T | acceptor_gain | 1.0000 |
| 1:156738435:CCAC:C | acceptor_gain | 1.0000 |
| 1:156738435:CCACC:C | acceptor_gain | 1.0000 |
| 1:156738436:CAC:C | acceptor_gain | 1.0000 |
| 1:156738436:CACC:C | acceptor_gain | 1.0000 |
| 1:156738437:AC:A | acceptor_gain | 1.0000 |
| 1:156738437:ACC:A | acceptor_loss | 1.0000 |
| 1:156738438:CC:C | acceptor_gain | 1.0000 |
| 1:156738439:C:CC | acceptor_gain | 1.0000 |
| 1:156738439:CTGT:C | acceptor_loss | 1.0000 |
| 1:156737530:GCCAT:G | acceptor_gain | 0.9900 |
| 1:156737531:CCAT:C | acceptor_gain | 0.9900 |
AlphaMissense
1388 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:156738055:A:T | V120D | 0.972 |
| 1:156738526:T:G | D60A | 0.966 |
| 1:156738527:C:G | D60H | 0.961 |
| 1:156737720:G:A | S147F | 0.959 |
| 1:156738526:T:A | D60V | 0.957 |
| 1:156737521:G:C | D176E | 0.952 |
| 1:156737521:G:T | D176E | 0.952 |
| 1:156737523:C:G | D176H | 0.952 |
| 1:156737721:A:G | S147P | 0.952 |
| 1:156737720:G:T | S147Y | 0.951 |
| 1:156737723:A:T | V146D | 0.947 |
| 1:156738437:A:T | V62E | 0.947 |
| 1:156738365:A:T | V86E | 0.945 |
| 1:156738526:T:C | D60G | 0.943 |
| 1:156737727:G:C | R145G | 0.941 |
| 1:156737749:A:C | F137L | 0.941 |
| 1:156737749:A:T | F137L | 0.941 |
| 1:156737751:A:G | F137L | 0.941 |
| 1:156737757:A:G | W135R | 0.941 |
| 1:156737757:A:T | W135R | 0.941 |
| 1:156738395:A:T | V76E | 0.939 |
| 1:156737522:T:G | D176A | 0.932 |
| 1:156738127:C:G | R96P | 0.931 |
| 1:156738525:G:C | D60E | 0.931 |
| 1:156738525:G:T | D60E | 0.931 |
| 1:156738070:A:G | L115S | 0.930 |
| 1:156738043:T:C | D124G | 0.929 |
| 1:156738374:C:G | R83P | 0.923 |
| 1:156737505:C:G | A182P | 0.917 |
| 1:156737726:C:G | R145P | 0.912 |
dbSNP variants (sampled 300 via entrez): RS1000389800 (1:156740947 G>A), RS1000464108 (1:156741091 G>A,C), RS1000659619 (1:156737792 GGT>G), RS1000713410 (1:156744009 C>T), RS1001011810 (1:156738048 A>C), RS1001253811 (1:156741351 G>C), RS1001594924 (1:156739402 T>C), RS1002256206 (1:156740411 G>A), RS1002666524 (1:156740542 A>G,T), RS1003295500 (1:156744611 G>A,T), RS1004074828 (1:156741525 G>A), RS1004673046 (1:156743083 G>A), RS1004694108 (1:156737969 T>A,C,G), RS1005001875 (1:156743398 A>T), RS1005301136 (1:156740612 G>A)
Disease associations
OMIM: gene MIM:611836 | disease phenotypes:
GenCC curated gene-disease
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial disease | Limited | AR |
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_368 | Refractive error | 7.000000e-38 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 3 |
| Acetaminophen | decreases expression, affects expression, affects cotreatment | 3 |
| Tretinoin | affects cotreatment, decreases expression | 3 |
| bisphenol A | decreases expression | 2 |
| Arsenic | decreases expression, increases abundance | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| arsenite | affects binding, increases reaction | 1 |
| gossypol acetic acid | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| bisphenol S | affects expression | 1 |
| jinfukang | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases methylation | 1 |
| Urethane | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: mitochondrial disease