MRPL41
gene geneOn this page
Also known as MRP-L27RPML27BMRPPIG3MRPL27mL41
Summary
MRPL41 (mitochondrial ribosomal protein L41, HGNC:14492) is a protein-coding gene on chromosome 9q34.3, encoding Large ribosomal subunit protein mL41 (Q8IXM3). Component of the mitochondrial ribosome large subunit. It is a selective cancer dependency (DepMap: 78.3% 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 YmL27 ribosomal protein family.
Source: NCBI Gene 64975 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 17 total
- Cancer dependency (DepMap): dependent in 78.3% of screened cell lines
- MANE Select transcript:
NM_032477
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14492 |
| Approved symbol | MRPL41 |
| Name | mitochondrial ribosomal protein L41 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRP-L27, RPML27, BMRP, PIG3, MRPL27, mL41 |
| Ensembl gene | ENSG00000182154 |
| Ensembl biotype | protein_coding |
| OMIM | 611846 |
| Entrez | 64975 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000371443
RefSeq mRNA: 1 — MANE Select: NM_032477
NM_032477
CCDS: CCDS7046
Canonical transcript exons
ENST00000371443 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001455236 | 137552074 | 137552555 |
| ENSE00001455237 | 137551879 | 137551978 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 62.6359 / max 371.1834, expressed in 1820 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99699 | 62.6359 | 1820 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 99.55 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.37 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.24 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.23 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.19 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.15 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.15 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.12 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.99 | gold quality |
| myocardium | UBERON:0002349 | 98.97 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.95 | gold quality |
| putamen | UBERON:0001874 | 98.94 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.92 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.91 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.88 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.82 | gold quality |
| amygdala | UBERON:0001876 | 98.80 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.80 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.70 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.63 | gold quality |
| right lobe of liver | UBERON:0001114 | 98.47 | gold quality |
| heart | UBERON:0000948 | 98.44 | gold quality |
| hypothalamus | UBERON:0001898 | 98.36 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.30 | gold quality |
| body of stomach | UBERON:0001161 | 98.21 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.12 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.10 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.06 | gold quality |
| muscle of leg | UBERON:0001383 | 98.05 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.03 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6819 | yes | 207.19 |
| E-ANND-3 | yes | 15.91 |
| E-MTAB-8559 | no | 680.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): DNMT1, ESR1, EZH2, LITAF, SSRP1, TP53, TP63, TP73, ZNF699
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 78.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- BMRP is a mitochondrial ribosomal protein involved in the regulation of cell death by apoptosis, probably affecting pathways mediated by Bcl-2 and caspases. (PMID:15547950)
- mitochondrial ribosomal protein L41 (MRPL41) is localized in the mitochondria, stabilizes the p53 protein, and enhances its translocation to the mitochondria, thereby inducing apoptosis. (PMID:16024796)
- Overall, these results suggest that MRPL41 arrests the cell cycle by increasing the p21(WAF1/CIP1) and p27(Kip1) levels under the growth inhibitory conditions. (PMID:16256947)
- region of BMRP required for the interaction with Bcl-2 is very relevant for the cell death-inducing activity of the protein (PMID:21253851)
- Apoptosis-inducing ability of wild-type BMRP is blocked by Bcl-2 through several mechanisms. (PMID:22711503)
- Nuclear-encoded mitochondrial MTO1 and MRPL41 are regulated in an opposite epigenetic mode based on estrogen receptor status in breast cancer. (PMID:24160266)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl41 | ENSDARG00000002264 |
| mus_musculus | Mrpl41 | ENSMUSG00000036850 |
| rattus_norvegicus | Mrpl41l1 | ENSRNOG00000034128 |
| rattus_norvegicus | Mrpl41 | ENSRNOG00000080840 |
| drosophila_melanogaster | mRpL41 | FBGN0034001 |
| caenorhabditis_elegans | WBGENE00015185 |
Protein
Protein identifiers
Large ribosomal subunit protein mL41 — Q8IXM3 (reviewed: Q8IXM3)
Alternative names: 39S ribosomal protein L41, mitochondrial, Bcl-2-interacting mitochondrial ribosomal protein L41, Cell proliferation-inducing gene 3 protein, MRP-L27 homolog
All UniProt accessions (1): Q8IXM3
UniProt curated annotations — full annotation on UniProt →
Function. Component of the mitochondrial ribosome large subunit. Also involved in apoptosis and cell cycle. Enhances p53/TP53 stability, thereby contributing to p53/TP53-induced apoptosis in response to growth-inhibitory condition. Enhances p53/TP53 translocation to the mitochondria. Has the ability to arrest the cell cycle at the G1 phase, possibly by stabilizing the CDKN1A and CDKN1B (p27Kip1) proteins.
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. Interacts with BCL2.
Subcellular location. Mitochondrion.
Tissue specificity. Present in kidney, liver, thymus and testis, and at lower level in brain and spleen (at protein level).
Similarity. Belongs to the mitochondrion-specific ribosomal protein mL41 family.
RefSeq proteins (1): NP_115866* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019189 | Ribosomal_mL41 | Family |
Pfam: PF09809
UniProt features (15 total): helix 6, strand 5, turn 2, transit peptide 1, chain 1
Structure
Experimental structures (PDB)
85 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 |
| 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 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IXM3-F1 | 91.26 | 0.80 |
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: 273 (showing top):
MODULE_255, RORA1_01, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MITOCHONDRIAL_TRANSLATION, MODULE_317, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, USF_01, KONDO_COLON_CANCER_HCP_WITH_H3K27ME1, GOCC_MITOCHONDRIAL_ENVELOPE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, USF_02, WONG_MITOCHONDRIA_GENE_MODULE, RASHI_RESPONSE_TO_IONIZING_RADIATION_6
GO Biological Process (3): translation (GO:0006412), apoptotic process (GO:0006915), 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 (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), ribonucleoprotein complex (GO:1990904), ribosome (GO:0005840)
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 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 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 |
| protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1917 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL41 | DAP3 | P51398 | 730 |
| MRPL41 | MRPL37 | Q9BZE1 | 666 |
| MRPL41 | MRPS30 | Q9NP92 | 635 |
| MRPL41 | MRPL11 | Q9Y3B7 | 625 |
| MRPL41 | MRPL12 | P52815 | 625 |
| MRPL41 | MRPS7 | Q9Y2R9 | 623 |
| MRPL41 | MRPS23 | Q9Y3D9 | 606 |
| MRPL41 | MRPL42 | Q9Y6G3 | 585 |
| MRPL41 | MRPL20 | Q9BYC9 | 548 |
| MRPL41 | MRPL34 | Q9BQ48 | 529 |
| MRPL41 | MRPL19 | P49406 | 511 |
| MRPL41 | MRPL13 | Q9BYD1 | 495 |
| MRPL41 | PPP1R21 | Q6ZMI0 | 489 |
| MRPL41 | A8MYK1 | A8MYK1 | 475 |
| MRPL41 | MRPL23 | Q16540 | 475 |
IntAct
145 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| TMED8 | MRPL41 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| 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 |
| MRPL38 | DUSP14 | 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 |
| MRPL27 | MRPL33 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL41 | TRIM63 | psi-mi:“MI:0915”(physical association) | 0.510 |
| TRIM63 | MRPL41 | psi-mi:“MI:0915”(physical association) | 0.510 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| SMURF2 | MRPL41 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (281): MRPL41 (Two-hybrid), MRPL41 (Two-hybrid), MRPL41 (Reconstituted Complex), MRPL41 (Affinity Capture-MS), MRPL41 (Affinity Capture-MS), MRPL41 (Affinity Capture-MS), MRPL41 (Affinity Capture-MS), MRPL41 (Affinity Capture-MS), MRPL41 (Co-fractionation), MRPL41 (Affinity Capture-MS), MRPL41 (Affinity Capture-MS), MRPL41 (Affinity Capture-MS), MRPL41 (Affinity Capture-MS), MRPL41 (Affinity Capture-MS), MRPL41 (Affinity Capture-MS)
ESM2 similar proteins: A6ZR80, G1TTQ5, O45946, O94658, P0CU36, P39032, P40078, P45633, P47964, P49181, P49630, P82673, Q09533, Q2M0G4, Q2YDF6, Q39724, Q3T171, Q498P2, Q498Z6, Q4PM12, Q502B0, Q54J69, Q5A2Y7, Q5BJX1, Q5M818, Q5R7L3, Q5RAZ9, Q60P81, Q66KU4, Q6CNC5, Q6DER2, Q6DJI4, Q6INF3, Q6Q415, Q7SEK9, Q8BJZ4, Q8IXM3, Q8SR96, Q8UW19, Q90YT2
Diamond homologs: P90993, Q502B0, Q5BJX1, Q6DJI4, Q6INF3, Q8IXM3, Q9CQN7, Q291A0, Q7JZM8, P36526
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL41 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 132 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 | 35 | 45.2× | 2e-48 |
| Mitochondrial translation | 31 | 44.9× | 5e-43 |
| Mitochondrial translation initiation | 33 | 44.1× | 2e-45 |
| Mitochondrial translation elongation | 33 | 44.1× | 2e-45 |
| Mitochondrial translation termination | 33 | 38.1× | 4e-43 |
| Translation | 34 | 22.2× | 1e-35 |
| Peptide chain elongation | 7 | 9.3× | 4e-04 |
| Viral mRNA Translation | 7 | 9.3× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 35 | 54.8× | 1e-50 |
| translation | 25 | 23.1× | 5e-25 |
| cytoplasmic translation | 7 | 11.7× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
68 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:137551978:GGTG:G | donor_loss | 0.9900 |
| 9:137551979:G:GA | donor_loss | 0.9900 |
| 9:137551979:G:GG | donor_gain | 0.9900 |
| 9:137551980:T:G | donor_loss | 0.9900 |
| 9:137551974:TCC:T | donor_gain | 0.9800 |
| 9:137552068:CCGCA:C | acceptor_loss | 0.9700 |
| 9:137552069:CGCAG:C | acceptor_loss | 0.9700 |
| 9:137552070:GCAGG:G | acceptor_loss | 0.9700 |
| 9:137552071:CA:C | acceptor_loss | 0.9700 |
| 9:137552072:A:C | acceptor_loss | 0.9700 |
| 9:137552072:A:AG | acceptor_gain | 0.9600 |
| 9:137552072:AG:A | acceptor_gain | 0.9600 |
| 9:137552073:G:GG | acceptor_gain | 0.9600 |
| 9:137552073:GG:G | acceptor_gain | 0.9600 |
| 9:137552073:GGGC:G | acceptor_gain | 0.9600 |
| 9:137551977:AG:A | donor_gain | 0.9400 |
| 9:137551978:GG:G | donor_gain | 0.9400 |
| 9:137551974:TCCAG:T | donor_gain | 0.9000 |
| 9:137552072:AGG:A | acceptor_gain | 0.9000 |
| 9:137552073:GGG:G | acceptor_gain | 0.9000 |
| 9:137551917:TCG:T | donor_gain | 0.8900 |
| 9:137552069:C:A | acceptor_gain | 0.8700 |
| 9:137552072:AGGGC:A | acceptor_gain | 0.8400 |
| 9:137552073:GGGCG:G | acceptor_gain | 0.8400 |
| 9:137551975:CCAG:C | donor_gain | 0.8300 |
| 9:137551976:CAG:C | donor_gain | 0.7900 |
| 9:137552223:TGGAG:T | acceptor_gain | 0.7500 |
| 9:137552224:GGAGG:G | acceptor_gain | 0.7500 |
| 9:137551979:G:T | donor_gain | 0.6800 |
| 9:137552225:GA:G | acceptor_gain | 0.6300 |
AlphaMissense
893 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:137552283:T:C | F68L | 0.955 |
| 9:137552285:C:A | F68L | 0.955 |
| 9:137552285:C:G | F68L | 0.955 |
| 9:137552229:T:C | F50L | 0.950 |
| 9:137552231:C:A | F50L | 0.950 |
| 9:137552231:C:G | F50L | 0.950 |
| 9:137552355:T:C | F92L | 0.941 |
| 9:137552357:C:A | F92L | 0.941 |
| 9:137552357:C:G | F92L | 0.941 |
| 9:137552266:T:A | V62D | 0.940 |
| 9:137552153:G:C | K24N | 0.928 |
| 9:137552153:G:T | K24N | 0.928 |
| 9:137552463:T:C | F128L | 0.927 |
| 9:137552465:C:A | F128L | 0.927 |
| 9:137552465:C:G | F128L | 0.927 |
| 9:137552380:T:A | I100N | 0.924 |
| 9:137552356:T:C | F92S | 0.909 |
| 9:137552464:T:C | F128S | 0.892 |
| 9:137552148:A:C | S23R | 0.891 |
| 9:137552150:C:A | S23R | 0.891 |
| 9:137552150:C:G | S23R | 0.891 |
| 9:137552260:T:C | F60S | 0.883 |
| 9:137552450:G:C | Q123H | 0.881 |
| 9:137552450:G:T | Q123H | 0.881 |
| 9:137552484:T:C | F135L | 0.879 |
| 9:137552486:C:A | F135L | 0.879 |
| 9:137552486:C:G | F135L | 0.879 |
| 9:137552206:G:A | G42D | 0.871 |
| 9:137552142:T:A | W21R | 0.867 |
| 9:137552142:T:C | W21R | 0.867 |
dbSNP variants (sampled 300 via entrez): RS1001177799 (9:137552474 C>G,T), RS1001462123 (9:137552775 G>T), RS1001966535 (9:137552735 G>A), RS1002828601 (9:137550686 A>G), RS1002896465 (9:137552895 A>G), RS1003162830 (9:137551728 C>A,G), RS1003229968 (9:137551606 G>A), RS1003639246 (9:137551453 A>G), RS1004526216 (9:137553049 G>A), RS1005025965 (9:137552823 A>G), RS1006298499 (9:137550254 G>C), RS1006659312 (9:137551216 G>A), RS1007990293 (9:137552006 C>T), RS1009487716 (9:137552910 G>A), RS1010088684 (9:137551735 G>A,C)
Disease associations
OMIM: gene MIM:611846 | 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
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 5 |
| Acetaminophen | affects cotreatment, decreases expression, increases expression | 3 |
| bisphenol A | affects expression, increases abundance, decreases methylation, affects cotreatment | 2 |
| sodium arsenite | increases expression, decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| lead acetate | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone | affects cotreatment, increases expression, decreases reaction | 1 |
| pinosylvin | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| corosolic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Ethanol | increases abundance, increases expression, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects cotreatment, increases expression, decreases reaction | 1 |
| Catechin | affects cotreatment, decreases reaction, increases expression | 1 |
| Dactinomycin | affects localization, increases reaction, increases stability | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Oils, Volatile | increases abundance, affects cotreatment, affects expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases abundance, increases expression, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 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.