MRPL32
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Also known as HSPC283L32mtMRP-L32bMRP-59bbL32m
Summary
MRPL32 (mitochondrial ribosomal protein L32, HGNC:14035) is a protein-coding gene on chromosome 7p14.1, encoding Large ribosomal subunit protein bL32m (Q9BYC8). Component of the mitochondrial large ribosomal subunit (mt-LSU). It is a selective cancer dependency (DepMap: 58.2% 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 L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp.
Source: NCBI Gene 64983 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 25 total
- Cancer dependency (DepMap): dependent in 58.2% of screened cell lines
- MANE Select transcript:
NM_031903
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14035 |
| Approved symbol | MRPL32 |
| Name | mitochondrial ribosomal protein L32 |
| Location | 7p14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC283, L32mt, MRP-L32, bMRP-59b, bL32m |
| Ensembl gene | ENSG00000106591 |
| Ensembl biotype | protein_coding |
| OMIM | 611839 |
| Entrez | 64983 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000223324, ENST00000413995, ENST00000432845, ENST00000496564, ENST00000900012, ENST00000921963
RefSeq mRNA: 1 — MANE Select: NM_031903
NM_031903
CCDS: CCDS5468
Canonical transcript exons
ENST00000223324 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000680322 | 42934955 | 42935136 |
| ENSE00001693057 | 42932376 | 42932516 |
| ENSE00003483004 | 42937322 | 42937857 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 98.33.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.8326 / max 270.0191, expressed in 1815 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78333 | 39.8326 | 1815 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 98.33 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.99 | gold quality |
| kidney epithelium | UBERON:0004819 | 97.93 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.49 | gold quality |
| myocardium | UBERON:0002349 | 97.34 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 97.14 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.13 | gold quality |
| renal medulla | UBERON:0000362 | 97.09 | gold quality |
| pylorus | UBERON:0001166 | 97.08 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.04 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.96 | gold quality |
| metanephros | UBERON:0000081 | 96.92 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.81 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.79 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.78 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.77 | gold quality |
| body of pancreas | UBERON:0001150 | 96.74 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.74 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.71 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.47 | gold quality |
| deltoid | UBERON:0001476 | 96.42 | gold quality |
| adrenal gland | UBERON:0002369 | 96.37 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.16 | gold quality |
| heart | UBERON:0000948 | 96.14 | gold quality |
| urethra | UBERON:0000057 | 96.10 | gold quality |
| peritoneum | UBERON:0002358 | 96.09 | gold quality |
| omental fat pad | UBERON:0010414 | 96.08 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.08 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.04 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.04 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 27.05 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting MRPL32, 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-5003-5P | 99.61 | 69.13 | 1624 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-548AV-3P | 99.43 | 68.50 | 1721 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-138-2-3P | 98.91 | 68.33 | 1643 |
| HSA-MIR-1261 | 98.62 | 68.10 | 896 |
| HSA-MIR-676-5P | 98.49 | 68.87 | 1492 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-4693-5P | 97.35 | 67.02 | 1234 |
| HSA-MIR-643 | 97.35 | 67.91 | 805 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 58.2% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl32 | ENSDARG00000060489 |
| mus_musculus | Mrpl32 | ENSMUSG00000015672 |
| rattus_norvegicus | Mrpl32 | ENSRNOG00000015989 |
| drosophila_melanogaster | mRpL32 | FBGN0039835 |
| caenorhabditis_elegans | WBGENE00016249 |
Protein
Protein identifiers
Large ribosomal subunit protein bL32m — Q9BYC8 (reviewed: Q9BYC8)
Alternative names: 39S ribosomal protein L32, mitochondrial
All UniProt accessions (4): Q9BYC8, A4D1V4, B3KQX1, H7BZU9
UniProt curated annotations — full annotation on UniProt →
Function. Component of the mitochondrial large ribosomal subunit (mt-LSU). The mitochondrial ribosome (mitoribosome) is a large ribonucleoprotein complex responsible for the synthesis of proteins inside mitochondria.
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. bL32m has a zinc binding site.
Subcellular location. Mitochondrion.
Post-translational modifications. MRPL32 precursor is processed by the m-AAA protease (composed of AFG3L2 and SPG7), which cleaves the N-terminal transit peptide. Cleavage by the m-AAA protease takes place prior to assembly into the large subunit, an essential step for mitochondrial ribosome (mitoribosome) assembly. Proper processing by the m-AAA protease is dependent on the zinc-binding region within the tightly folded C-terminal domain of MRPL32: zinc-dependent folding halts degradation initiated from the N-terminus and triggers the release of mature MRPL32.
Similarity. Belongs to the bacterial ribosomal protein bL32 family.
RefSeq proteins (1): NP_114109* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002677 | Ribosomal_bL32 | Family |
| IPR011332 | Ribosomal_zn-bd | Homologous_superfamily |
| IPR051991 | Mitoribosomal_protein_bL32 | Family |
Pfam: PF01783
UniProt features (19 total): strand 5, binding site 4, turn 3, helix 2, transit peptide 1, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 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-Q9BYC8-F1 | 77.72 | 0.52 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 110; 113; 123; 126
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| R-HSA-9837999 | Mitochondrial protein degradation |
| 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: 91 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, TGCGCANK_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, EFC_Q6, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN, NRF2_Q4, DODD_NASOPHARYNGEAL_CARCINOMA_UP, WONG_MITOCHONDRIA_GENE_MODULE, GOCC_LARGE_RIBOSOMAL_SUBUNIT, 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 (8): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), large ribosomal subunit (GO:0015934), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Metabolism of proteins | 2 |
| Translation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitochondrion | 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 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| intracellular organelle lumen | 1 |
| organellar ribosome | 1 |
| mitochondrial matrix | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| ribosomal subunit | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2460 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL32 | MRPS12 | O15235 | 625 |
| MRPL32 | MRPL17 | Q9NRX2 | 593 |
| MRPL32 | MALSU1 | Q96EH3 | 576 |
| MRPL32 | MRPL42 | Q9Y6G3 | 574 |
| MRPL32 | MRPS18A | Q9NVS2 | 547 |
| MRPL32 | MRPL12 | P52815 | 535 |
| MRPL32 | YJU2B | P13994 | 448 |
| MRPL32 | RPL35 | P42766 | 406 |
| MRPL32 | RPS9 | P46781 | 376 |
| MRPL32 | MRPL33 | O75394 | 353 |
| MRPL32 | RPS11 | P04643 | 353 |
| MRPL32 | RPS15 | P11174 | 353 |
| MRPL32 | RPL23 | P23131 | 353 |
| MRPL32 | RPS3 | P23396 | 353 |
| MRPL32 | RPS18 | P25232 | 353 |
| MRPL32 | MRPL19 | P49406 | 353 |
| MRPL32 | YARS1 | P54577 | 353 |
| MRPL32 | MRPS6 | P82932 | 353 |
| MRPL32 | MRPS9 | P82933 | 353 |
| MRPL32 | DARS2 | Q6PI48 | 353 |
| MRPL32 | MRPL21 | Q7Z2W9 | 353 |
IntAct
137 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MALSU1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL32 | PRDM14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | 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 |
| HNRNPA1 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| IGF2BP3 | PTCD1 | 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 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| 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 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| ZNF316 | psi-mi:“MI:0914”(association) | 0.350 | |
| MRPL4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL12 | psi-mi:“MI:0914”(association) | 0.350 | |
| ZC3H3 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL13 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (169): MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL32 (Affinity Capture-MS), MRPL18 (Co-fractionation), MRPL2 (Co-fractionation), MRPL37 (Co-fractionation), MRPL9 (Co-fractionation)
ESM2 similar proteins: O09111, P0C2B7, P0C2B8, P0C2B9, P25712, P56181, P82649, P82913, P82927, P83565, Q0MQJ0, Q0MQJ1, Q0MQJ2, Q0MQJ3, Q0MQJ4, Q0MQJ5, Q2TBI6, Q3MHJ5, Q3T040, Q5EA71, Q5I0K8, Q5R4S3, Q5R504, Q5TC12, Q5TM62, Q6DDY9, Q6DQX6, Q6P161, Q7Z7F7, Q80X85, Q811I0, Q86TS9, Q8BK30, Q8HXG5, Q99N84, Q9BYC8, Q9CPV3, Q9CPW3, Q9CQ40, Q9CZ83
Diamond homologs: Q2TBI6, Q9BYC8, Q9DCI9, Q9V9Z1, Q04907
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL32 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 114 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 | 34 | 49.7× | 8e-49 |
| Mitochondrial translation | 29 | 47.5× | 5e-41 |
| Mitochondrial translation initiation | 31 | 46.8× | 1e-43 |
| Mitochondrial translation elongation | 31 | 46.8× | 1e-43 |
| Mitochondrial translation termination | 31 | 40.5× | 2e-41 |
| Transport of Mature Transcript to Cytoplasm | 5 | 22.7× | 3e-05 |
| Translation | 30 | 22.2× | 2e-31 |
| Peptide chain elongation | 12 | 18.1× | 6e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 34 | 55.2× | 3e-49 |
| mitochondrial large ribosomal subunit assembly | 5 | 46.3× | 4e-06 |
| translation | 29 | 27.9× | 4e-32 |
| cytoplasmic translation | 12 | 20.8× | 6e-11 |
| regulation of alternative mRNA splicing, via spliceosome | 9 | 20.5× | 5e-08 |
| negative regulation of translation | 7 | 12.8× | 8e-05 |
| mRNA processing | 9 | 6.6× | 5e-04 |
| RNA splicing | 7 | 5.8× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
388 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:42932512:GTGGG:G | donor_gain | 1.0000 |
| 7:42934939:AT:A | acceptor_gain | 1.0000 |
| 7:42934940:T:TA | acceptor_gain | 1.0000 |
| 7:42934946:A:AG | acceptor_gain | 1.0000 |
| 7:42934947:T:G | acceptor_gain | 1.0000 |
| 7:42934953:A:AG | acceptor_gain | 1.0000 |
| 7:42934953:AG:A | acceptor_gain | 1.0000 |
| 7:42934954:G:GC | acceptor_gain | 1.0000 |
| 7:42934954:GG:G | acceptor_gain | 1.0000 |
| 7:42934954:GGA:G | acceptor_gain | 1.0000 |
| 7:42934954:GGAC:G | acceptor_gain | 1.0000 |
| 7:42934954:GGACC:G | acceptor_gain | 1.0000 |
| 7:42935132:T:G | donor_gain | 1.0000 |
| 7:42935134:AAGGT:A | donor_loss | 1.0000 |
| 7:42935136:GGT:G | donor_loss | 1.0000 |
| 7:42935137:GTA:G | donor_loss | 1.0000 |
| 7:42935138:T:G | donor_loss | 1.0000 |
| 7:42937318:A:AG | acceptor_gain | 1.0000 |
| 7:42937319:A:G | acceptor_gain | 1.0000 |
| 7:42932473:G:GT | donor_gain | 0.9900 |
| 7:42932514:GGG:G | donor_gain | 0.9900 |
| 7:42932515:GG:G | donor_gain | 0.9900 |
| 7:42932515:GGG:G | donor_gain | 0.9900 |
| 7:42932515:GGGTA:G | donor_loss | 0.9900 |
| 7:42932516:GG:G | donor_gain | 0.9900 |
| 7:42932516:GGTA:G | donor_loss | 0.9900 |
| 7:42932517:G:GG | donor_gain | 0.9900 |
| 7:42932517:G:T | donor_loss | 0.9900 |
| 7:42932518:T:C | donor_loss | 0.9900 |
| 7:42934940:T:G | acceptor_gain | 0.9900 |
AlphaMissense
1217 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:42937562:T:C | F185L | 0.980 |
| 7:42937564:C:A | F185L | 0.980 |
| 7:42937564:C:G | F185L | 0.980 |
| 7:42937559:T:A | W184R | 0.975 |
| 7:42937559:T:C | W184R | 0.975 |
| 7:42935076:A:C | R84S | 0.974 |
| 7:42935076:A:T | R84S | 0.974 |
| 7:42937360:A:C | K117N | 0.968 |
| 7:42937360:A:T | K117N | 0.968 |
| 7:42935103:G:C | R93S | 0.966 |
| 7:42935103:G:T | R93S | 0.966 |
| 7:42937337:T:C | C110R | 0.965 |
| 7:42935106:A:C | R94S | 0.961 |
| 7:42935106:A:T | R94S | 0.961 |
| 7:42935075:G:C | R84T | 0.958 |
| 7:42937563:T:C | F185S | 0.958 |
| 7:42935063:C:A | A80D | 0.949 |
| 7:42935102:G:C | R93T | 0.949 |
| 7:42935109:A:C | R95S | 0.949 |
| 7:42935109:A:T | R95S | 0.949 |
| 7:42937376:T:C | C123R | 0.949 |
| 7:42935077:C:A | R85S | 0.947 |
| 7:42935070:A:C | K82N | 0.940 |
| 7:42935070:A:T | K82N | 0.940 |
| 7:42935102:G:T | R93M | 0.938 |
| 7:42937563:T:G | F185C | 0.938 |
| 7:42937561:G:C | W184C | 0.937 |
| 7:42937561:G:T | W184C | 0.937 |
| 7:42935081:C:T | T86I | 0.933 |
| 7:42935075:G:T | R84I | 0.929 |
dbSNP variants (sampled 300 via entrez): RS1000138292 (7:42932316 C>G,T), RS1000299247 (7:42932186 G>A,C,T), RS1000526844 (7:42937974 A>G), RS1000596877 (7:42936599 A>G), RS1000629327 (7:42936945 T>C,G), RS1000874512 (7:42932326 T>TC), RS1001088520 (7:42931078 G>C), RS1001991041 (7:42930835 C>T), RS1002023865 (7:42931103 C>CCTA), RS1002087263 (7:42936895 A>C,T), RS1002168384 (7:42935300 G>T), RS1002194602 (7:42933863 G>A), RS1002766297 (7:42933854 C>A), RS1003208804 (7:42934115 A>C), RS1003464405 (7:42935410 A>G)
Disease associations
OMIM: gene MIM:611839 | 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 |
|---|---|---|
| GCST004749_18 | Lung cancer in ever smokers | 7.000000e-06 |
| GCST010702_155 | Subcortical volume (MOSTest) | 4.000000e-29 |
| GCST010703_261 | Brain morphology (MOSTest) | 2.000000e-13 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ketoconazole | increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| 1-Butanol | affects cotreatment, decreases expression, increases abundance | 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): lung carcinoma