MRPS26
gene geneOn this page
Also known as MRP-S13MRP-S26RPMS13dJ534B8.3mS26
Summary
MRPS26 (mitochondrial ribosomal protein S26, HGNC:14045) is a protein-coding gene on chromosome 20p13, encoding Small ribosomal subunit protein mS26 (Q9BYN8). It is a selective cancer dependency (DepMap: 40.5% of cell lines).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene.
Source: NCBI Gene 64949 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 24 total
- Cancer dependency (DepMap): dependent in 40.5% of screened cell lines
- MANE Select transcript:
NM_030811
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14045 |
| Approved symbol | MRPS26 |
| Name | mitochondrial ribosomal protein S26 |
| Location | 20p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRP-S13, MRP-S26, RPMS13, dJ534B8.3, mS26 |
| Ensembl gene | ENSG00000125901 |
| Ensembl biotype | protein_coding |
| OMIM | 611988 |
| Entrez | 64949 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000380325, ENST00000885065, ENST00000885066, ENST00000912036
RefSeq mRNA: 1 — MANE Select: NM_030811
NM_030811
CCDS: CCDS13043
Canonical transcript exons
ENST00000380325 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000858712 | 3046373 | 3046519 |
| ENSE00000858713 | 3046614 | 3046737 |
| ENSE00001484561 | 3047735 | 3048250 |
| ENSE00001484591 | 3046052 | 3046280 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 96.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.2579 / max 200.2936, expressed in 1807 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183197 | 29.9401 | 1797 |
| 183196 | 4.8059 | 1651 |
| 183198 | 2.5119 | 1108 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 96.15 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.09 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.69 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.67 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.67 | gold quality |
| upper arm skin | UBERON:0004263 | 95.66 | gold quality |
| pituitary gland | UBERON:0000007 | 95.60 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.55 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.45 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.44 | gold quality |
| hypothalamus | UBERON:0001898 | 95.27 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.21 | gold quality |
| putamen | UBERON:0001874 | 95.17 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.15 | gold quality |
| apex of heart | UBERON:0002098 | 95.10 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.06 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.03 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.02 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.01 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.70 | gold quality |
| amygdala | UBERON:0001876 | 94.59 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.46 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.45 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.44 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.37 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.33 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.25 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.23 | gold quality |
| lower esophagus | UBERON:0013473 | 94.22 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.80 |
| E-MTAB-8271 | yes | 7.04 |
| E-MTAB-9689 | no | 345.48 |
| E-HCAD-5 | no | 2.23 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting MRPS26, 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-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-4494 | 97.86 | 64.93 | 850 |
| HSA-MIR-3616-3P | 96.96 | 65.45 | 983 |
| HSA-MIR-1287-5P | 96.80 | 65.30 | 743 |
| HSA-MIR-1291 | 96.28 | 65.89 | 1224 |
| HSA-MIR-4256 | 96.22 | 67.70 | 669 |
| HSA-MIR-11181-5P | 96.12 | 67.46 | 665 |
| HSA-MIR-6775-3P | 95.76 | 65.91 | 982 |
| HSA-MIR-328-3P | 92.82 | 64.37 | 521 |
| HSA-MIR-6084 | 89.09 | 62.33 | 58 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 40.5% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrps26 | ENSDARG00000039719 |
| mus_musculus | Mrps26 | ENSMUSG00000037740 |
| rattus_norvegicus | Mrps26 | ENSRNOG00000021224 |
| drosophila_melanogaster | mRpS26 | FBGN0036774 |
| caenorhabditis_elegans | WBGENE00016412 |
Protein
Protein identifiers
Small ribosomal subunit protein mS26 — Q9BYN8 (reviewed: Q9BYN8)
Alternative names: 28S ribosomal protein S13, mitochondrial, 28S ribosomal protein S26, mitochondrial
All UniProt accessions (1): Q9BYN8
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.
Subcellular location. Mitochondrion.
Similarity. Belongs to the mitochondrion-specific ribosomal protein mS26 family.
RefSeq proteins (1): NP_110438* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026140 | Ribosomal_mS26 | Family |
Pfam: PF14943
UniProt features (7 total): helix 4, transit peptide 1, chain 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-Q9BYN8-F1 | 89.69 | 0.78 |
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: 120 (showing top):
SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MITOCHONDRIAL_TRANSLATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_TRANSLATION, ROZANOV_MMP14_TARGETS_UP, GOCC_MITOCHONDRIAL_ENVELOPE, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, MODULE_397, BURTON_ADIPOGENESIS_5, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOCC_RIBOSOME, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE
GO Biological Process (1): mitochondrial translation (GO:0032543)
GO Molecular Function (1): RNA binding (GO:0003723)
GO Cellular Component (6): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), 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 |
| nucleic acid binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar small ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1500 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPS26 | MRPS22 | P82650 | 549 |
| MRPS26 | MRPL28 | Q13084 | 536 |
| MRPS26 | MRPS24 | P82668 | 526 |
| MRPS26 | MRPS9 | P82933 | 502 |
| MRPS26 | MRPL11 | Q9Y3B7 | 488 |
| MRPS26 | MRPS27 | Q92552 | 474 |
| MRPS26 | MRPL45 | Q9BRJ2 | 473 |
| MRPS26 | MRPS21 | P82921 | 446 |
| MRPS26 | MRPL12 | P52815 | 440 |
| MRPS26 | S4R460 | S4R460 | 417 |
| MRPS26 | MRPL16 | Q9NX20 | 398 |
| MRPS26 | MRPL38 | Q96DV4 | 393 |
| MRPS26 | INTS5 | Q6P9B9 | 387 |
| MRPS26 | CRLS1 | Q9UJA2 | 383 |
| MRPS26 | EEF1G | P26641 | 371 |
IntAct
213 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SUV39H1 | CBX5 | psi-mi:“MI:0914”(association) | 0.950 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| MRPS27 | MRPS14 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| ZNF707 | ZNF316 | 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 |
| MRPS26 | ERAL1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRNP70 | GTPBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC59 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| THAP3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| NOA1 | ATE1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | PRKACG | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS27 | YBX1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS26 | MRPS10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF764 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RBFA | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | MRPS12 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (574): MRPS26 (Affinity Capture-RNA), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS22 (Co-fractionation), MRPS26 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS)
ESM2 similar proteins: A1A4P4, A1CH36, A2ALW5, A5AAL8, B0BN56, O42911, O70279, P0C2B7, P58468, P83565, Q0CLE8, Q1ECT8, Q290P4, Q2GVC2, Q3SZ86, Q4G0I0, Q4V7Q1, Q5B4U6, Q5BJW9, Q5RFR4, Q5XJW2, Q61733, Q6RUT7, Q753F1, Q7SDU5, Q7SHR9, Q80ZS3, Q86TS9, Q8BGX2, Q8BK72, Q8CHP5, Q8SPE7, Q8TAE8, Q8VD26, Q8WUQ7, Q96AN5, Q96DF8, Q9BRP8, Q9BSF4, Q9BYN8
Diamond homologs: Q3SZ86, Q80ZS3, Q9BYN8, Q9EPJ3, Q9VVN2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPS26 | “form complex” | “28S mitochondrial small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 219 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 | 24 | 23.2× | 1e-24 |
| Mitochondrial ribosome-associated quality control | 26 | 22.5× | 7e-26 |
| Mitochondrial translation initiation | 25 | 22.3× | 3e-25 |
| Mitochondrial translation elongation | 25 | 22.3× | 3e-25 |
| Mitochondrial translation termination | 25 | 19.3× | 1e-23 |
| Translation | 30 | 13.1× | 2e-23 |
| Eukaryotic Translation Initiation | 5 | 10.9× | 2e-03 |
| Cap-dependent Translation Initiation | 5 | 10.9× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 26 | 22.9× | 2e-25 |
| cytoplasmic translation | 13 | 12.2× | 2e-08 |
| ribosomal small subunit biogenesis | 10 | 11.6× | 3e-06 |
| translation | 22 | 11.5× | 1e-14 |
| rRNA processing | 11 | 7.9× | 3e-05 |
| RNA processing | 7 | 7.8× | 5e-03 |
| protein import into nucleus | 8 | 5.8× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
24 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
446 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:3046263:GACC:G | donor_gain | 1.0000 |
| 20:3046276:CTCAG:C | donor_loss | 1.0000 |
| 20:3046278:CAGG:C | donor_loss | 1.0000 |
| 20:3046279:AG:A | donor_loss | 1.0000 |
| 20:3046280:GGTG:G | donor_loss | 1.0000 |
| 20:3046281:G:A | donor_loss | 1.0000 |
| 20:3046282:T:A | donor_loss | 1.0000 |
| 20:3046515:C:G | donor_gain | 1.0000 |
| 20:3046517:GCG:G | donor_gain | 1.0000 |
| 20:3046518:CGGTG:C | donor_loss | 1.0000 |
| 20:3046519:GGTG:G | donor_loss | 1.0000 |
| 20:3046520:G:GG | donor_gain | 1.0000 |
| 20:3046520:GTGC:G | donor_loss | 1.0000 |
| 20:3046521:T:G | donor_loss | 1.0000 |
| 20:3046609:CACA:C | acceptor_loss | 1.0000 |
| 20:3046610:ACAG:A | acceptor_gain | 1.0000 |
| 20:3046611:CA:C | acceptor_loss | 1.0000 |
| 20:3046612:A:AG | acceptor_gain | 1.0000 |
| 20:3046612:AG:A | acceptor_gain | 1.0000 |
| 20:3046613:G:GT | acceptor_gain | 1.0000 |
| 20:3046613:GG:G | acceptor_gain | 1.0000 |
| 20:3046613:GGA:G | acceptor_gain | 1.0000 |
| 20:3046613:GGAT:G | acceptor_gain | 1.0000 |
| 20:3046613:GGATA:G | acceptor_gain | 1.0000 |
| 20:3046720:G:GT | donor_gain | 1.0000 |
| 20:3046720:G:T | donor_gain | 1.0000 |
| 20:3046734:GCAGG:G | donor_loss | 1.0000 |
| 20:3046736:AGGTG:A | donor_loss | 1.0000 |
| 20:3046737:GG:G | donor_loss | 1.0000 |
| 20:3046738:GTG:G | donor_loss | 1.0000 |
AlphaMissense
1311 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:3046380:T:C | F74L | 0.950 |
| 20:3046382:C:A | F74L | 0.950 |
| 20:3046382:C:G | F74L | 0.950 |
| 20:3047750:T:C | F167L | 0.926 |
| 20:3047752:C:A | F167L | 0.926 |
| 20:3047752:C:G | F167L | 0.926 |
| 20:3046519:G:C | R120P | 0.912 |
| 20:3047819:G:C | A190P | 0.876 |
| 20:3047823:T:A | I191N | 0.872 |
| 20:3046487:C:A | N109K | 0.871 |
| 20:3046487:C:G | N109K | 0.871 |
| 20:3047818:G:C | W189C | 0.867 |
| 20:3047818:G:T | W189C | 0.867 |
| 20:3047754:T:A | I168N | 0.865 |
| 20:3046507:T:C | L116P | 0.861 |
| 20:3046485:A:G | N109D | 0.858 |
| 20:3047754:T:C | I168T | 0.857 |
| 20:3046713:G:C | K153N | 0.855 |
| 20:3046713:G:T | K153N | 0.855 |
| 20:3047823:T:G | I191S | 0.855 |
| 20:3046259:G:C | R64P | 0.853 |
| 20:3047816:T:A | W189R | 0.849 |
| 20:3047816:T:C | W189R | 0.849 |
| 20:3046733:T:C | L160P | 0.846 |
| 20:3047834:G:A | G195R | 0.846 |
| 20:3047834:G:C | G195R | 0.846 |
| 20:3046474:T:C | L105P | 0.844 |
| 20:3047789:G:C | A180P | 0.843 |
| 20:3046504:G:C | R115P | 0.840 |
| 20:3046486:A:C | N109T | 0.836 |
dbSNP variants (sampled 300 via entrez): RS1000129573 (20:3046214 A>G,T), RS1000336589 (20:3047368 G>A), RS1000546524 (20:3047576 G>C), RS1000917831 (20:3047407 T>G), RS1002977246 (20:3045541 G>A,T), RS1003006702 (20:3045780 C>A,G,T), RS1004502117 (20:3046153 A>C,G), RS1004564797 (20:3044292 C>T), RS1004688656 (20:3047092 G>A), RS1006487686 (20:3045737 G>A,C), RS1006499670 (20:3048042 G>A,T), RS1006868855 (20:3045509 G>A), RS1006873486 (20:3044248 C>T), RS1007092634 (20:3047423 G>A), RS1007299797 (20:3045341 A>G)
Disease associations
OMIM: gene MIM:611988 | 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
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, increases abundance | 3 |
| Acetaminophen | decreases expression, affects response to substance | 3 |
| Leflunomide | decreases expression | 2 |
| bisphenol A | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lipopolysaccharides | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silver | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
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.