MRPL19
gene geneOn this page
Also known as MRP-L15RPML15KIAA0104RLX1bL19m
Summary
MRPL19 (mitochondrial ribosomal protein L19, HGNC:14052) is a protein-coding gene on chromosome 2p12, encoding Large ribosomal subunit protein bL19m (P49406). It is a selective cancer dependency (DepMap: 33.9% 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 9801 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 54 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 33.9% of screened cell lines
- MANE Select transcript:
NM_014763
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14052 |
| Approved symbol | MRPL19 |
| Name | mitochondrial ribosomal protein L19 |
| Location | 2p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRP-L15, RPML15, KIAA0104, RLX1, bL19m |
| Ensembl gene | ENSG00000115364 |
| Ensembl biotype | protein_coding |
| OMIM | 611832 |
| Entrez | 9801 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 retained_intron
ENST00000358788, ENST00000393909, ENST00000409374, ENST00000453233, ENST00000476622, ENST00000492255, ENST00000493686, ENST00000884931, ENST00000930104, ENST00000930105
RefSeq mRNA: 1 — MANE Select: NM_014763
NM_014763
CCDS: CCDS1960
Canonical transcript exons
ENST00000393909 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001516881 | 75655064 | 75662206 |
| ENSE00001696460 | 75647102 | 75647219 |
| ENSE00003471768 | 75646783 | 75646910 |
| ENSE00003575107 | 75652523 | 75652657 |
| ENSE00003623099 | 75654736 | 75654917 |
| ENSE00003627294 | 75652142 | 75652260 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 94.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 64.9197 / max 686.9537, expressed in 1821 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21097 | 63.7428 | 1821 |
| 21098 | 1.1768 | 793 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 94.12 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.04 | gold quality |
| muscle of leg | UBERON:0001383 | 92.54 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.87 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 91.65 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.59 | gold quality |
| biceps brachii | UBERON:0001507 | 91.41 | gold quality |
| rectum | UBERON:0001052 | 91.24 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.23 | gold quality |
| adrenal gland | UBERON:0002369 | 90.97 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.94 | gold quality |
| gingiva | UBERON:0001828 | 90.93 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.73 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.58 | gold quality |
| muscle organ | UBERON:0001630 | 90.47 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.37 | gold quality |
| adrenal cortex | UBERON:0001235 | 90.35 | gold quality |
| oocyte | CL:0000023 | 90.26 | gold quality |
| secondary oocyte | CL:0000655 | 90.23 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.19 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.18 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.17 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.05 | gold quality |
| liver | UBERON:0002107 | 89.94 | gold quality |
| heart left ventricle | UBERON:0002084 | 89.80 | gold quality |
| cardiac ventricle | UBERON:0002082 | 89.74 | gold quality |
| nephron tubule | UBERON:0001231 | 89.58 | gold quality |
| oral cavity | UBERON:0000167 | 89.29 | gold quality |
| ventricular zone | UBERON:0003053 | 89.28 | gold quality |
| endometrium | UBERON:0001295 | 89.08 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.60 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
240 targeting MRPL19, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 33.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- Study refined the 2p12 candidate region in two populations and report evidence supporting MRPL19 and C2ORF3 as candidate susceptibility genes for dyslexia. (PMID:17309879)
- study failed to show any association of MRPL19 SNPs with developmental dyslexia in an Indian population. (PMID:23954868)
- MRPL19 was initially implicated in dyslexia through family-based studies. (PMID:25448322)
- Candidate gene MRPL19 is involved in the development of Reading disorder. (PMID:29566979)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl19 | ENSDARG00000011885 |
| mus_musculus | Mrpl19 | ENSMUSG00000030045 |
| rattus_norvegicus | Mrpl19 | ENSRNOG00000006968 |
| drosophila_melanogaster | mRpL19 | FBGN0037608 |
| caenorhabditis_elegans | mrpl-19 | WBGENE00022470 |
Protein
Protein identifiers
Large ribosomal subunit protein bL19m — P49406 (reviewed: P49406)
Alternative names: 39S ribosomal protein L15, mitochondrial, 39S ribosomal protein L19, mitochondrial
All UniProt accessions (5): P49406, A0A0A0MRF4, H7C2J0, S4R3W9, S4R455
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 bL19 family.
RefSeq proteins (1): NP_055578* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001857 | Ribosomal_bL19 | Family |
| IPR008991 | Translation_prot_SH3-like_sf | Homologous_superfamily |
| IPR038657 | Ribosomal_bL19_sf | Homologous_superfamily |
Pfam: PF01245
UniProt features (23 total): helix 11, strand 8, transit peptide 1, chain 1, turn 1, modified residue 1
Structure
Experimental structures (PDB)
87 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-P49406-F1 | 84.98 | 0.73 |
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): 77
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: 179 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, MITSIADES_RESPONSE_TO_APLIDIN_DN, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, PUJANA_CHEK2_PCC_NETWORK, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, ONKEN_UVEAL_MELANOMA_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE
GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)
GO Molecular Function (2): structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), 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 |
|---|---|
| intracellular membrane-bounded organelle | 2 |
| 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 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| cytoplasm | 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
3315 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL19 | GCFC2 | P16383 | 773 |
| MRPL19 | DNAAF4 | Q8WXU2 | 729 |
| MRPL19 | KIAA0319 | Q5VV43 | 727 |
| MRPL19 | DCDC2 | Q9UHG0 | 703 |
| MRPL19 | MRPL11 | Q9Y3B7 | 700 |
| MRPL19 | PSMC4 | P43686 | 667 |
| MRPL19 | RPLP0 | P05388 | 665 |
| MRPL19 | MRPL13 | Q9BYD1 | 628 |
| MRPL19 | MRPL17 | Q9NRX2 | 627 |
| MRPL19 | SF3A1 | Q15459 | 620 |
| MRPL19 | MRPL4 | Q9BYD3 | 612 |
| MRPL19 | MRPL24 | Q96A35 | 611 |
| MRPL19 | PUM1 | Q14671 | 602 |
| MRPL19 | EIF2B1 | Q14232 | 598 |
| MRPL19 | MRPL9 | Q9BYD2 | 589 |
IntAct
119 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| YBX1 | SSB | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL19 | LRRK2 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| 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 |
| 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 |
| RPL13A | NVL | 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 |
| MRPL19 | MAGEC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MRPL19 | TRIM63 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMURF2 | MRPL19 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Ppp2r1a | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| Smchd1 | SETD1A | psi-mi:“MI:0914”(association) | 0.350 |
| Max | PABPN1 | 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 |
| CENPA | ATP5PD | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (238): MRPL19 (Two-hybrid), MRPL19 (Two-hybrid), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), MRPL19 (Affinity Capture-MS), ICT1 (Co-fractionation), MRPL19 (Co-fractionation)
ESM2 similar proteins: A2C4Z2, A9BCP0, B6YSL3, B8GKD3, O15235, O26110, O35680, P09001, P12629, P18665, P25998, P29766, P31165, P31334, P32611, P38064, P49404, P49406, Q0ID12, Q0VC21, Q0W1Y9, Q1K8T6, Q29IK4, Q29RU1, Q3T0J3, Q3ZBX6, Q46IR6, Q5JDJ0, Q5M818, Q5R7L3, Q5R8M4, Q5ZKT8, Q6AZN4, Q6DGM3, Q7SCX7, Q7V9W9, Q7XYP4, Q93425, Q97BX7, Q99N93
Diamond homologs: A0L4Y9, A0RPR5, A1B8V6, A1KSJ8, A1UR22, A4G2T8, A4YK97, A5EXX6, A5V9Q3, A5VKN2, A5VSN4, A6LNY4, A6SVI7, A6UE47, A6WXG3, A7GZB0, A7I0V8, A7IIA9, A7ZDX6, A8IKV6, A9IZA0, A9M2D0, A9M8P3, A9W963, B0CIF8, B0T3B9, B0U8L6, B1I2N2, B1LZR8, B1MZW8, B1ZAP4, B2G816, B2GD23, B2IFY8, B2S861, B3PR19, B3Q853, B3WET9, B4RIW2, B7KVM8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL19 | “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 | 33 | 50.0× | 3e-47 |
| Mitochondrial translation initiation | 30 | 47.0× | 5e-42 |
| Mitochondrial translation elongation | 30 | 47.0× | 5e-42 |
| Mitochondrial translation | 27 | 45.9× | 2e-37 |
| Mitochondrial translation termination | 30 | 40.7× | 6e-40 |
| Translation | 28 | 21.4× | 1e-28 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 31 | 54.4× | 3e-44 |
| mitochondrial large ribosomal subunit assembly | 5 | 50.1× | 7e-06 |
| translation | 20 | 20.8× | 1e-18 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2647 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:75646908:GCA:G | donor_gain | 1.0000 |
| 2:75646911:G:GG | donor_gain | 1.0000 |
| 2:75647100:A:AG | acceptor_gain | 1.0000 |
| 2:75647100:AG:A | acceptor_gain | 1.0000 |
| 2:75647101:G:GG | acceptor_gain | 1.0000 |
| 2:75647101:GG:G | acceptor_gain | 1.0000 |
| 2:75652213:A:G | donor_gain | 1.0000 |
| 2:75652261:GTCA:G | donor_gain | 1.0000 |
| 2:75652265:G:GG | donor_gain | 1.0000 |
| 2:75652269:GAGCT:G | donor_gain | 1.0000 |
| 2:75652271:GCT:G | donor_gain | 1.0000 |
| 2:75652512:T:TA | acceptor_gain | 1.0000 |
| 2:75652515:A:AG | acceptor_gain | 1.0000 |
| 2:75652516:T:G | acceptor_gain | 1.0000 |
| 2:75652518:T:TA | acceptor_gain | 1.0000 |
| 2:75652518:TGTA:T | acceptor_loss | 1.0000 |
| 2:75652520:TA:T | acceptor_loss | 1.0000 |
| 2:75652521:A:G | acceptor_loss | 1.0000 |
| 2:75652521:AG:A | acceptor_gain | 1.0000 |
| 2:75652522:GG:G | acceptor_gain | 1.0000 |
| 2:75652522:GGAA:G | acceptor_gain | 1.0000 |
| 2:75652653:ACAAG:A | donor_gain | 1.0000 |
| 2:75652654:CAAG:C | donor_gain | 1.0000 |
| 2:75652654:CAAGG:C | donor_loss | 1.0000 |
| 2:75652655:AAGG:A | donor_loss | 1.0000 |
| 2:75652656:AG:A | donor_gain | 1.0000 |
| 2:75652657:GG:G | donor_gain | 1.0000 |
| 2:75652657:GGTA:G | donor_loss | 1.0000 |
| 2:75652658:G:GG | donor_gain | 1.0000 |
| 2:75652658:GTAA:G | donor_loss | 1.0000 |
AlphaMissense
1921 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:75652525:A:C | S115R | 0.995 |
| 2:75652527:T:A | S115R | 0.995 |
| 2:75652527:T:G | S115R | 0.995 |
| 2:75655103:T:A | W233R | 0.993 |
| 2:75655103:T:C | W233R | 0.993 |
| 2:75655105:G:C | W233C | 0.993 |
| 2:75655105:G:T | W233C | 0.993 |
| 2:75652593:C:G | C137W | 0.992 |
| 2:75655091:T:A | W229R | 0.991 |
| 2:75655091:T:C | W229R | 0.991 |
| 2:75652251:T:C | F111L | 0.988 |
| 2:75652253:C:A | F111L | 0.988 |
| 2:75652253:C:G | F111L | 0.988 |
| 2:75654852:A:C | S198R | 0.988 |
| 2:75654854:C:A | S198R | 0.988 |
| 2:75654854:C:G | S198R | 0.988 |
| 2:75652532:T:C | L117P | 0.987 |
| 2:75652538:T:A | V119D | 0.987 |
| 2:75652638:G:C | R152S | 0.987 |
| 2:75652638:G:T | R152S | 0.987 |
| 2:75652579:T:C | F133L | 0.985 |
| 2:75652581:T:A | F133L | 0.985 |
| 2:75652581:T:G | F133L | 0.985 |
| 2:75652637:G:C | R152T | 0.985 |
| 2:75654837:G:C | A193P | 0.985 |
| 2:75654829:T:C | L190S | 0.984 |
| 2:75652585:G:T | G135W | 0.983 |
| 2:75652591:T:C | C137R | 0.983 |
| 2:75652637:G:T | R152M | 0.983 |
| 2:75655093:G:C | W229C | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000060991 (2:75656187 G>T), RS1000581115 (2:75651202 G>A,C,T), RS1000707357 (2:75651761 G>A), RS1000779936 (2:75646770 A>T), RS1000868574 (2:75657894 T>A,C), RS1001065632 (2:75657495 C>A), RS1001211850 (2:75647241 A>G), RS1001384470 (2:75658142 A>G), RS1001516805 (2:75659650 T>A), RS1001707268 (2:75648327 T>G), RS1001747079 (2:75653008 A>C,G), RS1001764702 (2:75646983 G>A,C,T), RS1001823269 (2:75648551 C>T), RS1001893 (2:75645120 G>A), RS1001894 (2:75644820 T>A)
Disease associations
OMIM: gene MIM:611832 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006282_1 | Diabetic macular edema in type 2 diabetes | 4.000000e-06 |
| GCST009391_1464 | Metabolite levels | 2.000000e-06 |
| GCST009391_1852 | Metabolite levels | 3.000000e-06 |
| GCST009391_1872 | Metabolite levels | 1.000000e-06 |
| GCST009391_319 | Metabolite levels | 3.000000e-06 |
| GCST009391_527 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010406 | triacylglycerol 48:3 measurement |
| EFO:0010410 | triacylglycerol 50:3 measurement |
| EFO:0010411 | triacylglycerol 50:4 measurement |
| EFO:0010431 | triacylglycerol 56:4 measurement |
| EFO:0010117 | pyruvate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295771 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
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 |
|---|---|---|---|---|
| 6.41 | Kd | 390.8 | nM | CHEMBL5653589 |
| 6.41 | ED50 | 390.8 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 3 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 | 2148771: Binding affinity to human MRPL19 incubated for 45 mins by Kinobead based pull down assay | kd | 0.3908 | uM |
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression | 3 |
| bisphenol F | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Rotenone | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| urushiol | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| hydroxyethyl methacrylate | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| methylselenic acid | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| deguelin | increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| K 7174 | 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 |
| pyrimidifen | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| pyrachlostrobin | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| picoxystrobin | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gallic Acid | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118618 | Binding | Binding affinity to MRPL19 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
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): diabetic macular edema