MRPL37
gene geneOn this page
Also known as RPML2MRP-L2mL37
Summary
MRPL37 (mitochondrial ribosomal protein L37, HGNC:14034) is a protein-coding gene on chromosome 1p32.3, encoding Large ribosomal subunit protein mL37 (Q9BZE1). It is a selective cancer dependency (DepMap: 28.1% 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 51253 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 67 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 28.1% of screened cell lines
- MANE Select transcript:
NM_016491
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14034 |
| Approved symbol | MRPL37 |
| Name | mitochondrial ribosomal protein L37 |
| Location | 1p32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPML2, MRP-L2, mL37 |
| Ensembl gene | ENSG00000116221 |
| Ensembl biotype | protein_coding |
| OMIM | 611843 |
| Entrez | 51253 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000336230, ENST00000360840, ENST00000398219, ENST00000487096, ENST00000490670, ENST00000605337, ENST00000896015, ENST00000896016, ENST00000931406, ENST00000931407, ENST00000931408
RefSeq mRNA: 2 — MANE Select: NM_016491
NM_001330602, NM_016491
CCDS: CCDS589, CCDS81331
Canonical transcript exons
ENST00000360840 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001140118 | 54216141 | 54216344 |
| ENSE00001189716 | 54212501 | 54212658 |
| ENSE00001422443 | 54200167 | 54200589 |
| ENSE00001796659 | 54218172 | 54218383 |
| ENSE00003523495 | 54209946 | 54210131 |
| ENSE00003548193 | 54205295 | 54205410 |
| ENSE00003573464 | 54205018 | 54205201 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 97.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 105.0933 / max 539.6619, expressed in 1827 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2939 | 103.2529 | 1827 |
| 2940 | 0.9957 | 443 |
| 2942 | 0.8446 | 546 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 97.08 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.99 | gold quality |
| muscle of leg | UBERON:0001383 | 96.74 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.41 | gold quality |
| upper arm skin | UBERON:0004263 | 96.38 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.20 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.18 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.94 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.92 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.92 | gold quality |
| apex of heart | UBERON:0002098 | 95.77 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.75 | gold quality |
| quadriceps femoris | UBERON:0001377 | 95.73 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.67 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 95.65 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.58 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.43 | gold quality |
| adrenal gland | UBERON:0002369 | 95.12 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.11 | gold quality |
| rectum | UBERON:0001052 | 95.11 | gold quality |
| biceps brachii | UBERON:0001507 | 95.07 | gold quality |
| adrenal cortex | UBERON:0001235 | 94.99 | gold quality |
| body of pancreas | UBERON:0001150 | 94.95 | gold quality |
| deltoid | UBERON:0001476 | 94.91 | gold quality |
| muscle tissue | UBERON:0002385 | 94.78 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.73 | gold quality |
| heart | UBERON:0000948 | 94.63 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.60 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.56 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.39 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 17.85 |
| E-MTAB-6524 | no | 201.91 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
10 targeting MRPL37, 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-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-5088-5P | 97.97 | 64.28 | 487 |
| HSA-MIR-1972 | 97.67 | 67.38 | 1172 |
| HSA-MIR-5194 | 96.77 | 63.91 | 1021 |
| HSA-MIR-6738-5P | 96.33 | 63.61 | 815 |
| HSA-MIR-1914-3P | 95.07 | 63.37 | 762 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 28.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- MRPL37 gene is widely represented in the lymphoma populations of Raji B cells and MT4 T cells, as well as in pancreas, liver, and lung embryonic fibroblasts, which may imply the MRPL37 involvement in the process of apoptosis. (PMID:15562971)
- male VTE patients with MRPL37 polymorphism had a significantly higher risk of VTE recurrence (PMID:29671165)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl37 | ENSDARG00000062916 |
| mus_musculus | Mrpl37 | ENSMUSG00000028622 |
| rattus_norvegicus | Mrpl37 | ENSRNOG00000009078 |
| drosophila_melanogaster | mRpL37 | FBGN0261380 |
| caenorhabditis_elegans | WBGENE00013004 |
Protein
Protein identifiers
Large ribosomal subunit protein mL37 — Q9BZE1 (reviewed: Q9BZE1)
Alternative names: 39S ribosomal protein L2, mitochondrial, 39S ribosomal protein L37, mitochondrial
All UniProt accessions (4): Q9BZE1, A6NHR2, H0Y4J2, S4R369
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. mL37 forms a heterodimer with mL65.
Subcellular location. Mitochondrion.
Similarity. Belongs to the mitochondrion-specific ribosomal protein mL37 family.
RefSeq proteins (2): NP_001317531, NP_057575* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010793 | Ribosomal_mL37/mL65 | Family |
| IPR052482 | mtLSU_mL37 | Family |
Pfam: PF07147
UniProt features (44 total): strand 21, helix 13, turn 6, sequence variant 2, transit peptide 1, chain 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-Q9BZE1-F1 | 89.93 | 0.84 |
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: 121 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MITOCHONDRIAL_TRANSLATION, TGACCTY_ERR1_Q2, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, TGGAAA_NFAT_Q4_01, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_RIBOSOMAL_SUBUNIT, GOCC_RIBONUCLEOPROTEIN_COMPLEX, GOCC_MITOCHONDRIAL_PROTEIN_CONTAINING_COMPLEX
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 (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 |
| 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 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
1302 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL37 | MRPL41 | Q8IXM3 | 666 |
| MRPL37 | MRPS30 | Q9NP92 | 634 |
| MRPL37 | MRPL42 | Q9Y6G3 | 615 |
| MRPL37 | MRPS18B | Q9Y676 | 597 |
| MRPL37 | MRPL11 | Q9Y3B7 | 591 |
| MRPL37 | MRPS23 | Q9Y3D9 | 572 |
| MRPL37 | GADD45GIP1 | Q8TAE8 | 537 |
| MRPL37 | MRPS21 | P82921 | 505 |
| MRPL37 | DAP3 | P51398 | 502 |
| MRPL37 | MRPS10 | P82664 | 435 |
| MRPL37 | MRPL40 | Q9NQ50 | 430 |
| MRPL37 | RNF144A | P50876 | 428 |
| MRPL37 | RPL37 | P02403 | 421 |
| MRPL37 | MRPS7 | Q9Y2R9 | 419 |
| MRPL37 | CMPK2 | Q5EBM0 | 406 |
IntAct
129 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| MRPL37 | HSPD1 | psi-mi:“MI:0914”(association) | 0.710 |
| HSPD1 | NUDT19 | psi-mi:“MI:0914”(association) | 0.710 |
| MALSU1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| RPS6 | IPO7 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL38 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL28 | 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 |
| MRPL23 | BCKDHA | 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 |
| TGOLN2 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.420 |
| SMN1 | MRPL37 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TK1 | MRPL37 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SIRT4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| Cdc26 | psi-mi:“MI:0914”(association) | 0.350 | |
| Brwd3 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| Mapre1 | TPM1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (337): MRPL37 (Affinity Capture-RNA), MRPL37 (Affinity Capture-RNA), MRPL37 (Affinity Capture-RNA), MRPL37 (Affinity Capture-RNA), MRPL37 (Affinity Capture-MS), MRPL37 (Affinity Capture-MS), MRPL37 (Affinity Capture-MS), MRPL37 (Affinity Capture-MS), HSPD1 (Affinity Capture-MS), MRPL45 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL11 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), MRPL3 (Affinity Capture-MS)
ESM2 similar proteins: A2A9C3, A2RRP1, A4FUC0, F1PLN3, O75153, O76024, O88480, P03271, P03272, P03273, P12539, P12540, P48752, P56695, P82649, P82650, P82918, P82924, P83565, Q1T765, Q1XHY1, Q32LL9, Q5EA18, Q5R7X0, Q5SW19, Q5T011, Q5TM62, Q5U2W4, Q5ZI69, Q5ZKP2, Q6AXT0, Q6AXZ5, Q6DIK0, Q6GLY5, Q6NUV0, Q767K8, Q80UJ7, Q8BGW1, Q8QZV7, Q8VE18
Diamond homologs: A4FUC0, Q5ZI69, Q6AXT0, Q921S7, Q9BZE1, Q9D0G0, Q9NP92, P82924
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL37 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 110 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 | 34 | 50.9× | 4e-49 |
| Mitochondrial translation | 29 | 48.7× | 3e-41 |
| Mitochondrial translation initiation | 31 | 48.0× | 7e-44 |
| Mitochondrial translation elongation | 31 | 48.0× | 7e-44 |
| Mitochondrial translation termination | 31 | 41.5× | 1e-41 |
| Translation | 31 | 23.5× | 2e-33 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 31 | 55.5× | 2e-44 |
| translation | 20 | 21.2× | 8e-19 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2043 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:54184266:C:CC | acceptor_gain | 1.0000 |
| 1:54204993:A:AG | acceptor_gain | 1.0000 |
| 1:54204998:T:A | acceptor_gain | 1.0000 |
| 1:54205000:T:TA | acceptor_gain | 1.0000 |
| 1:54205001:G:A | acceptor_gain | 1.0000 |
| 1:54209943:TAGA:T | acceptor_loss | 1.0000 |
| 1:54209944:A:AG | acceptor_gain | 1.0000 |
| 1:54209945:G:GC | acceptor_loss | 1.0000 |
| 1:54209945:G:GG | acceptor_gain | 1.0000 |
| 1:54209945:GA:G | acceptor_gain | 1.0000 |
| 1:54209945:GAGT:G | acceptor_gain | 1.0000 |
| 1:54210129:CAGG:C | donor_loss | 1.0000 |
| 1:54210130:AGGT:A | donor_loss | 1.0000 |
| 1:54210131:GGTAA:G | donor_loss | 1.0000 |
| 1:54210132:GTAAG:G | donor_loss | 1.0000 |
| 1:54216137:TCA:T | acceptor_loss | 1.0000 |
| 1:54216138:CA:C | acceptor_loss | 1.0000 |
| 1:54216139:A:AG | acceptor_gain | 1.0000 |
| 1:54216139:AGAAT:A | acceptor_gain | 1.0000 |
| 1:54216140:G:GA | acceptor_gain | 1.0000 |
| 1:54216140:GA:G | acceptor_gain | 1.0000 |
| 1:54216140:GAA:G | acceptor_gain | 1.0000 |
| 1:54216140:GAAT:G | acceptor_gain | 1.0000 |
| 1:54216140:GAATG:G | acceptor_gain | 1.0000 |
| 1:54184156:CTGA:C | donor_loss | 0.9900 |
| 1:54184157:TGA:T | donor_loss | 0.9900 |
| 1:54184158:GA:G | donor_loss | 0.9900 |
| 1:54184159:A:C | donor_loss | 0.9900 |
| 1:54184159:ACCTG:A | donor_loss | 0.9900 |
| 1:54184160:C:A | donor_loss | 0.9900 |
AlphaMissense
2741 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:54216266:T:A | N372K | 0.988 |
| 1:54216266:T:G | N372K | 0.988 |
| 1:54205401:T:A | W213R | 0.981 |
| 1:54205401:T:C | W213R | 0.981 |
| 1:54216180:A:C | S344R | 0.981 |
| 1:54216182:C:A | S344R | 0.981 |
| 1:54216182:C:G | S344R | 0.981 |
| 1:54216226:T:C | L359P | 0.981 |
| 1:54216273:T:A | W375R | 0.980 |
| 1:54216273:T:C | W375R | 0.980 |
| 1:54212641:G:C | A325P | 0.972 |
| 1:54205039:T:C | L123P | 0.969 |
| 1:54216230:T:A | N360K | 0.967 |
| 1:54216230:T:G | N360K | 0.967 |
| 1:54216264:A:G | N372D | 0.965 |
| 1:54205315:T:C | L184P | 0.964 |
| 1:54216204:T:C | F352L | 0.964 |
| 1:54216206:C:A | F352L | 0.964 |
| 1:54216206:C:G | F352L | 0.964 |
| 1:54210093:T:C | L265P | 0.961 |
| 1:54212620:T:C | F318L | 0.961 |
| 1:54212622:T:A | F318L | 0.961 |
| 1:54212622:T:G | F318L | 0.961 |
| 1:54212629:G:C | A321P | 0.961 |
| 1:54212630:C:A | A321D | 0.960 |
| 1:54216226:T:A | L359Q | 0.957 |
| 1:54216263:G:C | K371N | 0.956 |
| 1:54216263:G:T | K371N | 0.956 |
| 1:54218218:T:C | F414S | 0.955 |
| 1:54205029:G:C | A120P | 0.953 |
dbSNP variants (sampled 300 via entrez): RS1000084632 (1:54202070 G>A,T), RS1000229995 (1:54221365 G>C), RS1000242823 (1:54215870 C>T), RS1000452424 (1:54220106 C>T), RS1000464287 (1:54223751 T>C), RS1000482820 (1:54207858 T>G), RS1000838921 (1:54211211 C>T), RS1000878030 (1:54200997 T>C), RS1000885415 (1:54220405 T>C), RS1001206586 (1:54221748 C>T), RS1001583055 (1:54212734 A>G), RS1001638120 (1:54221943 A>G), RS1001656714 (1:54213069 C>T), RS1001685136 (1:54199649 T>C), RS1001769988 (1:54206058 G>A)
Disease associations
OMIM: gene MIM:611843 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002616_17 | Mitochondrial DNA levels | 4.000000e-06 |
| GCST004162_7 | Carotid plaque burden | 8.000000e-06 |
| GCST90006993_3 | Gut microbiota relative abundance (unclassified genus belonging to the order Clostridiales) | 4.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006312 | mitochondrial DNA measurement |
| EFO:0006501 | carotid plaque build |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066470 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs642990 | MRPL37 | 3 | 2.50 | 1 | gemcitabine |
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.69 | Kd | 20.3 | nM | CHEMBL5653589 |
| 7.69 | ED50 | 20.3 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148772: Binding affinity to human MRPL37 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0203 | uM |
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| gossypol acetic acid | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| 4-aminophenylarsenoxide | decreases reaction, affects binding | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Arsenic Trioxide | decreases reaction, affects binding | 1 |
| Acetaminophen | affects cotreatment, decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| beta-Naphthoflavone | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651814 | Binding | Binding affinity to human MRPL37 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.