MRPL2
gene geneOn this page
Also known as MRP-L14RPML14CGI-22uL2m
Summary
MRPL2 (mitochondrial ribosomal protein L2, HGNC:14056) is a protein-coding gene on chromosome 6p21.1, encoding Large ribosomal subunit protein uL2m (Q5T653). It is a selective cancer dependency (DepMap: 41.2% 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 that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 51069 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 57 total
- Cancer dependency (DepMap): dependent in 41.2% of screened cell lines
- MANE Select transcript:
NM_015950
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14056 |
| Approved symbol | MRPL2 |
| Name | mitochondrial ribosomal protein L2 |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRP-L14, RPML14, CGI-22, uL2m |
| Ensembl gene | ENSG00000112651 |
| Ensembl biotype | protein_coding |
| OMIM | 611822 |
| Entrez | 51069 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 11 protein_coding, 4 retained_intron
ENST00000230413, ENST00000388752, ENST00000468957, ENST00000470667, ENST00000480286, ENST00000485654, ENST00000487429, ENST00000489623, ENST00000491898, ENST00000927866, ENST00000927867, ENST00000927868, ENST00000927869, ENST00000927870, ENST00000927871
RefSeq mRNA: 2 — MANE Select: NM_015950
NM_001300848, NM_015950
CCDS: CCDS34454, CCDS75458
Canonical transcript exons
ENST00000388752 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000751770 | 43055897 | 43056007 |
| ENSE00001138070 | 43054029 | 43054486 |
| ENSE00001823866 | 43059286 | 43059434 |
| ENSE00003492005 | 43055545 | 43055618 |
| ENSE00003524324 | 43056307 | 43056445 |
| ENSE00003524666 | 43058065 | 43058233 |
| ENSE00003566867 | 43056081 | 43056196 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 96.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.6137 / max 413.8488, expressed in 1824 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73664 | 51.3921 | 1824 |
| 73665 | 1.2216 | 752 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 96.92 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.27 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.89 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.83 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.65 | gold quality |
| muscle of leg | UBERON:0001383 | 95.52 | gold quality |
| apex of heart | UBERON:0002098 | 95.17 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.81 | gold quality |
| transverse colon | UBERON:0001157 | 94.80 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.74 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.73 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.69 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.63 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.62 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.61 | gold quality |
| body of pancreas | UBERON:0001150 | 94.50 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.37 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.36 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.25 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.17 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.13 | gold quality |
| lower esophagus | UBERON:0013473 | 94.12 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.11 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.11 | gold quality |
| body of stomach | UBERON:0001161 | 93.78 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.73 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.65 | gold quality |
| endocervix | UBERON:0000458 | 93.63 | gold quality |
| tibial artery | UBERON:0007610 | 93.61 | gold quality |
| popliteal artery | UBERON:0002250 | 93.60 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.18 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting MRPL2, 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-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-885-5P | 99.59 | 68.59 | 879 |
| HSA-MIR-486-5P | 99.51 | 70.39 | 707 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-194-5P | 99.01 | 69.65 | 1465 |
| HSA-MIR-6885-5P | 98.71 | 64.33 | 902 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-3074-3P | 97.83 | 67.26 | 922 |
| HSA-MIR-192-3P | 97.52 | 67.66 | 1001 |
| HSA-MIR-6892-5P | 97.27 | 68.60 | 847 |
| HSA-MIR-1915-5P | 95.25 | 65.78 | 571 |
| HSA-MIR-4707-5P | 90.95 | 65.69 | 110 |
| HSA-MIR-598-3P | 89.25 | 67.61 | 112 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 41.2% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl2 | ENSDARG00000062568 |
| mus_musculus | Mrpl2 | ENSMUSG00000002767 |
| rattus_norvegicus | Mrpl2 | ENSRNOG00000018057 |
| drosophila_melanogaster | mRpL2 | FBGN0036135 |
| caenorhabditis_elegans | WBGENE00018932 |
Paralogs (1): RPL8 (ENSG00000161016)
Protein
Protein identifiers
Large ribosomal subunit protein uL2m — Q5T653 (reviewed: Q5T653)
Alternative names: 39S ribosomal protein L2, mitochondrial
All UniProt accessions (5): C9IY40, C9J5E0, Q5T653, C9JZG7, C9JZW2
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 uL2 family.
RefSeq proteins (2): NP_001287777, NP_057034* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002171 | Ribosomal_uL2 | Family |
| IPR008991 | Translation_prot_SH3-like_sf | Homologous_superfamily |
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR014722 | Rib_uL2_dom2 | Homologous_superfamily |
| IPR022666 | Ribosomal_uL2_RNA-bd_dom | Domain |
| IPR022669 | Ribosomal_uL2_C | Domain |
Pfam: PF00181, PF03947
UniProt features (32 total): strand 18, helix 5, turn 2, sequence conflict 2, transit peptide 1, chain 1, region of interest 1, compositionally biased region 1, sequence variant 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-Q5T653-F1 | 86.03 | 0.75 |
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: 122 (showing top):
GOBP_MITOCHONDRIAL_TRANSLATION, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, COUP_01, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, HNF4_DR1_Q3, GOCC_MITOCHONDRIAL_ENVELOPE, CTGYNNCTYTAA_UNKNOWN, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE
GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)
GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)
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 |
|---|---|
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 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
4596 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL2 | MRPL16 | Q9NX20 | 662 |
| MRPL2 | MRPS18A | Q9NVS2 | 646 |
| MRPL2 | MRPL1 | Q9BYD6 | 593 |
| MRPL2 | IMP4 | Q96G21 | 576 |
| MRPL2 | MRPS12 | O15235 | 565 |
| MRPL2 | MRPL9 | Q9BYD2 | 534 |
| MRPL2 | MRPL17 | Q9NRX2 | 527 |
| MRPL2 | MRPL21 | Q7Z2W9 | 496 |
| MRPL2 | MRPS16 | Q9Y3D3 | 489 |
| MRPL2 | MRPL11 | Q9Y3B7 | 478 |
| MRPL2 | PEX5L | Q8IYB4 | 473 |
| MRPL2 | MRPS6 | P82932 | 472 |
| MRPL2 | MRPS2 | Q9Y399 | 470 |
| MRPL2 | NSA2 | O95478 | 465 |
| MRPL2 | MRPS10 | P82664 | 453 |
IntAct
148 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| EZH2 | EPOP | psi-mi:“MI:0914”(association) | 0.730 |
| 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 |
| MRPL50 | GTPBP10 | 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 |
| MRPL28 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| NSA2 | TYW5 | 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 |
| MRPL16 | MRPL2 | 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 |
| CMTM4 | MRPL2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRIM63 | MRPL2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MRPL2 | SMURF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MASTL | MED26 | psi-mi:“MI:0914”(association) | 0.350 |
| Brwd3 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| Ncstn | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL50 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (301): MRPL2 (Affinity Capture-MS), MRPL2 (Affinity Capture-MS), MRPL2 (Affinity Capture-MS), MRPL2 (Affinity Capture-MS), MRPL2 (Affinity Capture-MS), MRPL2 (Affinity Capture-MS), MRPL2 (Affinity Capture-MS), GFM2 (Co-fractionation), GTPBP4 (Co-fractionation), MRPL13 (Co-fractionation), MRPL17 (Co-fractionation), MRPL2 (Co-fractionation), MRPL2 (Co-fractionation), MRPL2 (Co-fractionation), MRPL2 (Co-fractionation)
ESM2 similar proteins: A0AJY7, B1VKG7, O60783, P56556, P82915, P82920, P82933, Q02366, Q0MQA3, Q0MQA4, Q0MQA5, Q0VFH6, Q13084, Q19V89, Q1JQ99, Q29IK4, Q2HJJ1, Q2TA12, Q2TBR2, Q3T040, Q3T0J3, Q498T4, Q58DQ5, Q58DV5, Q5I0K8, Q5T653, Q5U4Z8, Q5ZMU0, Q6B860, Q6DDY9, Q6P1L8, Q71YD4, Q7M0E7, Q7SF85, Q7ZUH5, Q80X85, Q8MFA1, Q8Y620, Q92AC7, Q9BYC9
Diamond homologs: A0ALW5, A0L5X6, A0LIJ3, A0R8I3, A1ALU4, A1VEB3, A4IJJ2, A4XLS7, A5GAW8, A5IM86, A5USI6, A6KYJ2, A6LEI8, A6LLL6, A7GK23, A7HBM1, A7HWR4, A7IFY4, A7NR60, A8F4R4, A8ZV60, A9B415, A9BHA2, A9WH69, B0K5P6, B0KCK3, B1LBN7, B1YGV3, B2RLY9, B3E7T8, B3EUM0, B3PK40, B4S094, B4S5M4, B4UBA2, B5EFQ3, B5Y985, B5YDU6, B6IRQ9, B7HQU7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL2 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 139 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 | 38 | 44.9× | 6e-53 |
| Mitochondrial translation | 33 | 43.7× | 2e-45 |
| Mitochondrial translation initiation | 35 | 42.7× | 6e-48 |
| Mitochondrial translation elongation | 35 | 42.7× | 6e-48 |
| Mitochondrial translation termination | 35 | 37.0× | 2e-45 |
| Translation | 35 | 20.9× | 8e-36 |
| Peptide chain elongation | 9 | 11.0× | 5e-06 |
| Viral mRNA Translation | 9 | 11.0× | 5e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 37 | 51.8× | 1e-52 |
| mitochondrial large ribosomal subunit assembly | 5 | 40.0× | 2e-05 |
| translation | 26 | 21.6× | 3e-25 |
| cytoplasmic translation | 9 | 13.4× | 4e-06 |
| negative regulation of translation | 6 | 9.5× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
997 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:43055893:ATAC:A | donor_loss | 1.0000 |
| 6:43055894:TACC:T | donor_loss | 1.0000 |
| 6:43055895:A:AT | donor_loss | 1.0000 |
| 6:43055896:C:CT | donor_loss | 1.0000 |
| 6:43055934:A:AC | donor_gain | 1.0000 |
| 6:43055935:C:CC | donor_gain | 1.0000 |
| 6:43056005:CAA:C | acceptor_gain | 1.0000 |
| 6:43056008:C:CC | acceptor_gain | 1.0000 |
| 6:43056075:TCTCA:T | donor_loss | 1.0000 |
| 6:43056076:CTCA:C | donor_loss | 1.0000 |
| 6:43056077:TCA:T | donor_loss | 1.0000 |
| 6:43056078:CA:C | donor_loss | 1.0000 |
| 6:43056079:ACC:A | donor_loss | 1.0000 |
| 6:43056080:C:CA | donor_loss | 1.0000 |
| 6:43056195:ACC:A | acceptor_loss | 1.0000 |
| 6:43058061:CCAC:C | donor_loss | 1.0000 |
| 6:43058063:A:T | donor_loss | 1.0000 |
| 6:43058064:C:CT | donor_loss | 1.0000 |
| 6:43058089:T:TA | donor_gain | 1.0000 |
| 6:43058090:C:A | donor_gain | 1.0000 |
| 6:43058095:T:C | donor_gain | 1.0000 |
| 6:43058234:C:CC | acceptor_gain | 1.0000 |
| 6:43054486:CCT:C | acceptor_loss | 0.9900 |
| 6:43054488:T:C | acceptor_loss | 0.9900 |
| 6:43055614:CGTCC:C | acceptor_gain | 0.9900 |
| 6:43055619:C:CC | acceptor_gain | 0.9900 |
| 6:43055938:T:A | donor_gain | 0.9900 |
| 6:43056003:AGCAA:A | acceptor_gain | 0.9900 |
| 6:43056004:GCAA:G | acceptor_gain | 0.9900 |
| 6:43056005:CAAC:C | acceptor_gain | 0.9900 |
AlphaMissense
1955 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:43056153:A:G | W150R | 0.993 |
| 6:43056153:A:T | W150R | 0.993 |
| 6:43056183:C:G | A140P | 0.991 |
| 6:43054467:G:T | A242E | 0.990 |
| 6:43055609:C:T | G214D | 0.989 |
| 6:43055897:C:A | G211W | 0.989 |
| 6:43056155:C:G | R149P | 0.989 |
| 6:43056182:G:T | A140D | 0.989 |
| 6:43055573:A:T | I226N | 0.988 |
| 6:43056307:C:G | R135T | 0.986 |
| 6:43054472:G:C | C240W | 0.985 |
| 6:43055567:A:G | L228P | 0.985 |
| 6:43055597:C:G | R218P | 0.985 |
| 6:43056307:C:A | R135M | 0.985 |
| 6:43055618:C:A | G211V | 0.984 |
| 6:43055950:A:T | I193N | 0.984 |
| 6:43056196:C:A | R135S | 0.984 |
| 6:43056196:C:G | R135S | 0.984 |
| 6:43056176:A:T | V142D | 0.983 |
| 6:43056191:G:T | A137E | 0.983 |
| 6:43054392:C:A | G267V | 0.982 |
| 6:43054458:C:A | G245V | 0.982 |
| 6:43054458:C:T | G245D | 0.982 |
| 6:43054459:C:G | G245R | 0.982 |
| 6:43055610:C:G | G214R | 0.982 |
| 6:43055977:A:T | L184H | 0.982 |
| 6:43055899:G:T | A210E | 0.981 |
| 6:43056185:A:T | I139K | 0.981 |
| 6:43056334:A:T | V126D | 0.981 |
| 6:43054473:C:T | C240Y | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000434098 (6:43053884 G>A,C), RS1000465372 (6:43054079 A>C), RS1000810369 (6:43060798 G>A), RS1001162643 (6:43055172 G>A), RS1001426967 (6:43054951 G>A), RS1002704714 (6:43059099 T>A), RS1003236245 (6:43058211 T>C), RS1003297582 (6:43057267 A>C,G), RS1003370186 (6:43055679 C>A,G,T), RS1004142730 (6:43060884 GAC>G), RS1004824855 (6:43057478 G>A), RS1005100018 (6:43057063 T>C), RS1005596433 (6:43054520 T>C), RS1005767494 (6:43059768 C>T), RS1007047532 (6:43060909 C>G)
Disease associations
OMIM: gene MIM:611822 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Valproic Acid | increases expression | 1 |
| Vitamin E | affects cotreatment, increases expression | 1 |
| Gold Compounds | decreases methylation | 1 |
| Acrylamide | decreases expression | 1 |
| tert-Butylhydroperoxide | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3B9 | Abcam HEK293T MRPL2 KO | Transformed 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.