MRPS15
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Also known as FLJ11564uS15m
Summary
MRPS15 (mitochondrial ribosomal protein S15, HGNC:14504) is a protein-coding gene on chromosome 1p34.3, encoding Small ribosomal subunit protein uS15m (P82914). It is a selective cancer dependency (DepMap: 17.7% 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 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q.
Source: NCBI Gene 64960 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 55 total
- Cancer dependency (DepMap): dependent in 17.7% of screened cell lines
- MANE Select transcript:
NM_031280
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14504 |
| Approved symbol | MRPS15 |
| Name | mitochondrial ribosomal protein S15 |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11564, uS15m |
| Ensembl gene | ENSG00000116898 |
| Ensembl biotype | protein_coding |
| OMIM | 611979 |
| Entrez | 64960 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000373116, ENST00000462067, ENST00000477040, ENST00000488606, ENST00000869082, ENST00000869083, ENST00000869084, ENST00000869085, ENST00000917996, ENST00000917997, ENST00000917998, ENST00000917999, ENST00000918000, ENST00000918001
RefSeq mRNA: 1 — MANE Select: NM_031280
NM_031280
CCDS: CCDS411
Canonical transcript exons
ENST00000373116 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000861263 | 36457923 | 36457981 |
| ENSE00000861264 | 36460692 | 36460776 |
| ENSE00000861265 | 36461264 | 36461312 |
| ENSE00001079185 | 36463806 | 36463850 |
| ENSE00001200598 | 36462088 | 36462163 |
| ENSE00001459541 | 36464146 | 36464384 |
| ENSE00001850729 | 36455718 | 36455925 |
| ENSE00003477723 | 36456187 | 36456378 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 99.21.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 68.8544 / max 414.3116, expressed in 1826 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 11740 | 61.5298 | 1824 |
| 11739 | 3.8109 | 1612 |
| 11741 | 2.5984 | 1395 |
| 11734 | 0.6169 | 312 |
| 11738 | 0.2223 | 91 |
| 11733 | 0.0762 | 14 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| biceps brachii | UBERON:0001507 | 99.21 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.17 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.12 | gold quality |
| body of tongue | UBERON:0011876 | 99.11 | gold quality |
| sperm | CL:0000019 | 98.88 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.80 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.79 | gold quality |
| parotid gland | UBERON:0001831 | 98.68 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.66 | gold quality |
| left testis | UBERON:0004533 | 98.64 | gold quality |
| adult organism | UBERON:0007023 | 98.57 | gold quality |
| right testis | UBERON:0004534 | 98.51 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.48 | gold quality |
| gingiva | UBERON:0001828 | 98.46 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.45 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.43 | gold quality |
| superior surface of tongue | UBERON:0007371 | 98.26 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.24 | gold quality |
| vena cava | UBERON:0004087 | 98.19 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.18 | gold quality |
| pericardium | UBERON:0002407 | 98.18 | gold quality |
| pons | UBERON:0000988 | 98.05 | gold quality |
| muscle of leg | UBERON:0001383 | 97.99 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.98 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.89 | gold quality |
| apex of heart | UBERON:0002098 | 97.88 | gold quality |
| renal medulla | UBERON:0000362 | 97.74 | gold quality |
| muscle organ | UBERON:0001630 | 97.74 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.65 | gold quality |
| pylorus | UBERON:0001166 | 97.62 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 15.79 |
| E-HCAD-5 | no | 2.23 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 17.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- Mitochondrial Ribosomal Protein MRPS15 Is a Component of Cytosolic Ribosomes and Regulates Translation in Stressed Cardiomyocytes. (PMID:38542224)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrps15 | ENSDARG00000109289 |
| mus_musculus | Mrps15 | ENSMUSG00000028861 |
| rattus_norvegicus | Mrps15 | ENSRNOG00000008279 |
| drosophila_melanogaster | bonsai | FBGN0026261 |
| caenorhabditis_elegans | mrps-15 | WBGENE00010624 |
Protein
Protein identifiers
Small ribosomal subunit protein uS15m — P82914 (reviewed: P82914)
Alternative names: 28S ribosomal protein S15, mitochondrial
All UniProt accessions (1): P82914
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial small ribosomal subunit (mt-SSU). 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. Interacts with METTL17.
Subcellular location. Mitochondrion matrix.
Similarity. Belongs to the universal ribosomal protein uS15 family.
RefSeq proteins (1): NP_112570* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000589 | Ribosomal_uS15 | Family |
| IPR005290 | Ribosomal_uS15_bact | Family |
| IPR009068 | uS15_NS1_RNA-bd_sf | Homologous_superfamily |
| IPR052137 | uS15_ribosomal | Family |
Pfam: PF00312
UniProt features (14 total): helix 9, transit peptide 1, chain 1, region of interest 1, sequence conflict 1, strand 1
Structure
Experimental structures (PDB)
77 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8CSS | ELECTRON MICROSCOPY | 2.36 |
| 7P2E | ELECTRON MICROSCOPY | 2.4 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 9OJM | ELECTRON MICROSCOPY | 2.5 |
| 8CSQ | ELECTRON MICROSCOPY | 2.54 |
| 8CSR | ELECTRON MICROSCOPY | 2.54 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 8CSP | ELECTRON MICROSCOPY | 2.66 |
| 7PNX | ELECTRON MICROSCOPY | 2.76 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 8CST | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7PO0 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 7PO1 | ELECTRON MICROSCOPY | 2.92 |
| 7PO3 | ELECTRON MICROSCOPY | 2.92 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6RW4 | ELECTRON MICROSCOPY | 2.97 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 8QRN | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8OIS | ELECTRON MICROSCOPY | 3 |
| 9G5C | ELECTRON MICROSCOPY | 3 |
| 9G5D | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P82914-F1 | 79.29 | 0.65 |
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: 165 (showing top):
LU_IL4_SIGNALING, MODULE_255, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_MITOCHONDRIAL_TRANSLATION, MODULE_317, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, WANG_LMO4_TARGETS_DN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, chr1p34, GOCC_MITOCHONDRIAL_ENVELOPE, WONG_MITOCHONDRIA_GENE_MODULE, ROSTY_CERVICAL_CANCER_PROLIFERATION_CLUSTER, GOCC_RIBOSOME
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (9): nucleoplasm (GO:0005654), nucleolus (GO:0005730), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), mitochondrial small ribosomal subunit (GO:0005763), mitochondrial ribosome (GO:0005761), 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 | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| intracellular organelle lumen | 1 |
| organellar small ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| organellar ribosome | 1 |
| mitochondrial matrix | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
4410 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPS15 | MRPL13 | Q9BYD1 | 666 |
| MRPS15 | MRPS16 | Q9Y3D3 | 591 |
| MRPS15 | MRPS21 | P82921 | 588 |
| MRPS15 | MRPS5 | P82675 | 574 |
| MRPS15 | MRPS7 | Q9Y2R9 | 573 |
| MRPS15 | MRPL11 | Q9Y3B7 | 568 |
| MRPS15 | MRPS11 | P82912 | 559 |
| MRPS15 | MRPS9 | P82933 | 558 |
| MRPS15 | MRPL34 | Q9BQ48 | 535 |
| MRPS15 | MRPL20 | Q9BYC9 | 534 |
| MRPS15 | MRPL21 | Q7Z2W9 | 534 |
| MRPS15 | MRPS10 | P82664 | 531 |
| MRPS15 | RPS9 | P46781 | 522 |
| MRPS15 | MRPL12 | P52815 | 521 |
| MRPS15 | MRPL24 | Q96A35 | 516 |
IntAct
145 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRPS27 | MRPS15 | psi-mi:“MI:0915”(physical association) | 0.740 |
| MRPS27 | MRPS15 | psi-mi:“MI:0403”(colocalization) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| ESR1 | TRIM24 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPS15 | PTCD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| RPS6 | IPO7 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS24 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT10B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| TMA16 | TNPO2 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| ZFC3H1 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | PRKACG | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | MRPS12 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS11 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| AURKAIP1 | NRDC | psi-mi:“MI:0914”(association) | 0.480 |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| EXOC8 | MRPS15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| REXO1L1P | MRPS15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MRPS15 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (218): MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D8PF11, A1ZAB5, A8PJX4, B0W2S0, B2GUB3, B3MB79, B3MIW0, B4KT50, B4LQ23, B4P6P7, F4HR03, F7AEX0, G1STW0, O13672, O57592, O76732, P03373, P0DJ14, P0DKK7, P12970, P17076, P29453, P32429, P35685, P46223, P49692, P62424, P62425, P82914, Q17N71, Q1LUC3, Q2TBQ5, Q3TPE9, Q3UFY4, Q4R5C2, Q54ZD1, Q5ANA1, Q5XI37, Q5ZMD2, Q7PZD5
Diamond homologs: A0RPX5, A1R0M9, A1VZL9, A3N113, A4XL65, A5I4I8, A5IMM9, A5IY18, A5N847, A5UC84, A5UEY4, A6LJ39, A6LSQ9, A6VQB6, A6W814, A7FVY8, A7GG01, A7GXT2, A7H3P9, A7H9F7, A7I1V7, A7ZEC8, A8F724, A8FLT4, A9BH72, A9KNL0, B0BPU4, B0SH21, B0SQH7, B0T174, B0THS1, B0USL5, B1HR10, B1II44, B1KWK2, B1LBY1, B1ZS99, B2A3A2, B2S1E8, B2S4C4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPS15 | “form complex” | “28S mitochondrial small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 166 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 translation initiation | 20 | 22.7× | 1e-19 |
| Mitochondrial translation elongation | 20 | 22.7× | 1e-19 |
| Mitochondrial translation | 18 | 22.1× | 9e-18 |
| Mitochondrial ribosome-associated quality control | 20 | 21.9× | 1e-19 |
| Mitochondrial translation termination | 20 | 19.6× | 1e-18 |
| Translation | 21 | 11.6× | 6e-15 |
| Signaling by ROBO receptors | 7 | 7.8× | 2e-03 |
| Metabolism of RNA | 11 | 4.1× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 20 | 24.0× | 2e-19 |
| translation | 16 | 11.3× | 4e-10 |
| RNA processing | 7 | 10.6× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1117 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:36455926:C:CA | acceptor_loss | 1.0000 |
| 1:36455926:C:CC | acceptor_gain | 1.0000 |
| 1:36455932:A:AC | acceptor_gain | 1.0000 |
| 1:36455932:A:C | acceptor_gain | 1.0000 |
| 1:36456204:T:TA | donor_gain | 1.0000 |
| 1:36456374:TTGTC:T | acceptor_gain | 1.0000 |
| 1:36456375:TGTC:T | acceptor_gain | 1.0000 |
| 1:36456376:GTC:G | acceptor_gain | 1.0000 |
| 1:36456376:GTCCT:G | acceptor_loss | 1.0000 |
| 1:36456377:TC:T | acceptor_gain | 1.0000 |
| 1:36456377:TCCTG:T | acceptor_loss | 1.0000 |
| 1:36456378:CC:C | acceptor_gain | 1.0000 |
| 1:36456378:CCT:C | acceptor_loss | 1.0000 |
| 1:36456379:C:CC | acceptor_gain | 1.0000 |
| 1:36456379:C:CG | acceptor_loss | 1.0000 |
| 1:36456380:T:A | acceptor_loss | 1.0000 |
| 1:36457919:TTAC:T | donor_loss | 1.0000 |
| 1:36457920:TACC:T | donor_loss | 1.0000 |
| 1:36457922:CC:C | donor_loss | 1.0000 |
| 1:36457979:TAA:T | acceptor_gain | 1.0000 |
| 1:36457982:C:CC | acceptor_gain | 1.0000 |
| 1:36460700:T:TA | donor_gain | 1.0000 |
| 1:36460772:TCCTT:T | acceptor_gain | 1.0000 |
| 1:36460773:CCTTC:C | acceptor_gain | 1.0000 |
| 1:36460774:CTT:C | acceptor_gain | 1.0000 |
| 1:36460775:TT:T | acceptor_gain | 1.0000 |
| 1:36460775:TTC:T | acceptor_loss | 1.0000 |
| 1:36460776:TCT:T | acceptor_loss | 1.0000 |
| 1:36460777:C:CA | acceptor_loss | 1.0000 |
| 1:36460777:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
1670 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:36456289:A:C | F178L | 0.977 |
| 1:36456289:A:T | F178L | 0.977 |
| 1:36456291:A:G | F178L | 0.977 |
| 1:36456334:C:A | R163S | 0.965 |
| 1:36456334:C:G | R163S | 0.965 |
| 1:36456311:C:G | R171P | 0.957 |
| 1:36456312:G:T | R171S | 0.956 |
| 1:36456362:C:G | R154P | 0.948 |
| 1:36456205:C:A | K206N | 0.945 |
| 1:36456205:C:G | K206N | 0.945 |
| 1:36456376:G:C | D149E | 0.944 |
| 1:36456376:G:T | D149E | 0.944 |
| 1:36455920:G:C | F214L | 0.941 |
| 1:36455920:G:T | F214L | 0.941 |
| 1:36455922:A:G | F214L | 0.941 |
| 1:36456314:A:G | L170P | 0.939 |
| 1:36456364:T:A | K153N | 0.933 |
| 1:36456364:T:G | K153N | 0.933 |
| 1:36456356:A:G | L156P | 0.931 |
| 1:36456378:C:G | D149H | 0.926 |
| 1:36457960:A:G | I136T | 0.915 |
| 1:36456377:T:G | D149A | 0.913 |
| 1:36460694:C:G | R128P | 0.911 |
| 1:36456323:A:T | L167H | 0.909 |
| 1:36456335:C:G | R163T | 0.906 |
| 1:36456323:A:G | L167P | 0.902 |
| 1:36456277:G:C | C182W | 0.899 |
| 1:36456338:T:G | Q162P | 0.899 |
| 1:36456290:A:C | F178C | 0.889 |
| 1:36456363:G:T | R154S | 0.887 |
dbSNP variants (sampled 300 via entrez): RS1000266823 (1:36460209 G>A,T), RS1000790562 (1:36465679 T>C), RS1000799319 (1:36461658 C>A), RS1001065410 (1:36455495 C>T), RS1001395682 (1:36460042 G>A), RS1001529972 (1:36459720 A>G), RS1001738640 (1:36465436 G>A), RS1003070903 (1:36458370 A>T), RS1003239783 (1:36465128 T>C), RS1003277832 (1:36464237 C>G), RS1003413506 (1:36459267 G>A,T), RS1003822981 (1:36463887 A>C), RS1004402157 (1:36463828 G>A), RS1004466467 (1:36463421 TG>T), RS1004538364 (1:36463666 A>C)
Disease associations
OMIM: gene MIM:611979 | 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 |
|---|---|---|
| GCST001017_4 | Diabetic retinopathy | 4.000000e-06 |
| GCST007007_1 | Cerebrospinal fluid t-tau levels | 2.000000e-06 |
| GCST007008_1 | Cerebrospinal fluid p-tau levels | 5.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004760 | t-tau measurement |
| EFO:0004763 | p-tau measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| chloropicrin | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Formaldehyde | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Paclitaxel | affects response to substance | 1 |
| Sodium Selenite | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
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 retinopathy