MRPS6
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Also known as MRP-S6RPMS6bS6m
Summary
MRPS6 (mitochondrial ribosomal protein S6, HGNC:14051) is a protein-coding gene on chromosome 21q22.11, encoding Small ribosomal subunit protein bS6m (P82932). It is a selective cancer dependency (DepMap: 57.6% 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 S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q.
Source: NCBI Gene 64968 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 62 total
- Cancer dependency (DepMap): dependent in 57.6% of screened cell lines
- MANE Select transcript:
NM_032476
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14051 |
| Approved symbol | MRPS6 |
| Name | mitochondrial ribosomal protein S6 |
| Location | 21q22.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRP-S6, RPMS6, bS6m |
| Ensembl gene | ENSG00000243927 |
| Ensembl biotype | protein_coding |
| OMIM | 611973 |
| Entrez | 64968 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 protein_coding, 1 retained_intron
ENST00000362077, ENST00000399312, ENST00000477091, ENST00000482679, ENST00000483977, ENST00000488492, ENST00000715810
RefSeq mRNA: 1 — MANE Select: NM_032476
NM_032476
CCDS: CCDS33548
Canonical transcript exons
ENST00000399312 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001537488 | 34073578 | 34073745 |
| ENSE00003491091 | 34142408 | 34143030 |
| ENSE00003597756 | 34125341 | 34125480 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 99.51.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5590 / max 44.3196, expressed in 1679 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 188911 | 96.7010 | 1828 |
| 188910 | 2.0997 | 1145 |
| 188909 | 2.0596 | 1205 |
| 188917 | 0.3997 | 208 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal medulla | UBERON:0000362 | 99.51 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.26 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.15 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.90 | gold quality |
| decidua | UBERON:0002450 | 97.90 | gold quality |
| thyroid gland | UBERON:0002046 | 97.75 | gold quality |
| metanephros | UBERON:0000081 | 97.54 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 97.46 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 97.44 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.42 | gold quality |
| tibial artery | UBERON:0007610 | 97.31 | gold quality |
| popliteal artery | UBERON:0002250 | 97.30 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.29 | gold quality |
| right coronary artery | UBERON:0001625 | 97.17 | gold quality |
| tibial nerve | UBERON:0001323 | 97.13 | gold quality |
| aorta | UBERON:0000947 | 97.12 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.11 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.11 | gold quality |
| cortical plate | UBERON:0005343 | 97.11 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.05 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 97.03 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.96 | gold quality |
| ascending aorta | UBERON:0001496 | 96.92 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.91 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.86 | gold quality |
| ventricular zone | UBERON:0003053 | 96.76 | gold quality |
| left coronary artery | UBERON:0001626 | 96.69 | gold quality |
| coronary artery | UBERON:0001621 | 96.55 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.52 | gold quality |
| saphenous vein | UBERON:0007318 | 96.51 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 35.20 |
| E-GEOD-125970 | yes | 14.31 |
| E-MTAB-10485 | no | 712.91 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting MRPS6, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-3685 | 99.62 | 68.83 | 1621 |
| HSA-MIR-425-5P | 99.59 | 67.67 | 900 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-657 | 99.48 | 66.02 | 848 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-888-5P | 99.30 | 70.15 | 1855 |
| HSA-MIR-6768-3P | 99.14 | 67.38 | 1319 |
| HSA-MIR-8066 | 99.05 | 68.66 | 1532 |
| HSA-MIR-3117-5P | 99.04 | 67.93 | 618 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 57.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Mitochondrial ribosomal small subunit proteins (MRPS) MRPS6 and MRPS23 show dysregulation in breast cancer affecting tumorigenic cellular processes. (PMID:33964376)
- MRPS6 modulates glucose-stimulated insulin secretion in mouse islet cells through mitochondrial unfolded protein response. (PMID:37758822)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrps6 | ENSDARG00000039543 |
| mus_musculus | Mrps6 | ENSMUSG00000039680 |
| rattus_norvegicus | Mrps6 | ENSRNOG00000059381 |
Protein
Protein identifiers
Small ribosomal subunit protein bS6m — P82932 (reviewed: P82932)
Alternative names: 28S ribosomal protein S6, mitochondrial
All UniProt accessions (1): P82932
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 bacterial ribosomal protein bS6 family.
RefSeq proteins (1): NP_115865* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000529 | Ribosomal_bS6 | Family |
| IPR014717 | Transl_elong_EF1B/ribsomal_bS6 | Homologous_superfamily |
| IPR035980 | Ribosomal_bS6_sf | Homologous_superfamily |
Pfam: PF01250
UniProt features (9 total): strand 4, helix 3, chain 1, turn 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-P82932-F1 | 92.50 | 0.81 |
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: 175 (showing top):
HONMA_DOCETAXEL_RESISTANCE, GCANCTGNY_MYOD_Q6, GOBP_MITOCHONDRIAL_TRANSLATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, CAGCTG_AP4_Q5, GOBP_TRANSLATION, NFKB_C, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GGARNTKYCCA_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOCC_MITOCHONDRIAL_ENVELOPE, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, AACTTT_UNKNOWN, DOUGLAS_BMI1_TARGETS_UP, chr21q22
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (4): structural constituent of ribosome (GO:0003735), small ribosomal subunit rRNA binding (GO:0070181), protein binding (GO:0005515), rRNA binding (GO:0019843)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), small ribosomal subunit (GO:0015935), 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 |
|---|---|
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| rRNA binding | 1 |
| binding | 1 |
| RNA binding | 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 |
| ribosomal subunit | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2369 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPS6 | SLC5A3 | P53794 | 637 |
| MRPS6 | TMEM50B | P56557 | 585 |
| MRPS6 | WDR12 | Q9GZL7 | 580 |
| MRPS6 | PHACTR1 | Q9C0D0 | 571 |
| MRPS6 | MRPS10 | P82664 | 561 |
| MRPS6 | DONSON | Q9NYP3 | 559 |
| MRPS6 | MRPS18C | Q9Y3D5 | 555 |
| MRPS6 | MRPL22 | Q9NWU5 | 552 |
| MRPS6 | MIA3 | Q5JRA6 | 544 |
| MRPS6 | MRPL1 | Q9BYD6 | 534 |
| MRPS6 | MRPS16 | Q9Y3D3 | 530 |
| MRPS6 | MRPS5 | P82675 | 517 |
| MRPS6 | DOP1B | Q9Y3R5 | 517 |
| MRPS6 | KCNE2 | Q9Y6J6 | 507 |
| MRPS6 | MRPS14 | O60783 | 504 |
IntAct
98 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBL | NOP56 | psi-mi:“MI:0914”(association) | 0.800 |
| STAT5B | MRPS6 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ESR1 | TRIM24 | psi-mi:“MI:0914”(association) | 0.640 |
| IGF2BP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPS6 | MKRN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MKRN3 | MRPS6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPS6 | LNX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPS6 | tax | psi-mi:“MI:0915”(physical association) | 0.560 |
| tax | MRPS6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| STAT5A | MRPS6 | psi-mi:“MI:0915”(physical association) | 0.550 |
| MRPS6 | STAT5A | psi-mi:“MI:0914”(association) | 0.550 |
| RPS6 | IPO7 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18B | MRPS14 | 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 |
| SRPK2 | MRPS6 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| MRPS6 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| MRPS6 | CFAP418 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SREBF2 | MRPS6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MRPS6 | RNF181 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MRPL50 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (215): MRPS6 (Two-hybrid), MRPS6 (Affinity Capture-MS), MRPS6 (Affinity Capture-MS), MRPS18C (Co-fractionation), MRPS6 (Co-fractionation), MRPS6 (Affinity Capture-MS), MRPS6 (Affinity Capture-MS), MRPS6 (Affinity Capture-MS), MRPS6 (Affinity Capture-MS), MRPS6 (Affinity Capture-MS), MRPS6 (Affinity Capture-MS), MRPS6 (Affinity Capture-MS), MRPS6 (Affinity Capture-RNA), MRPS6 (Affinity Capture-MS), MRPS6 (Affinity Capture-MS)
ESM2 similar proteins: A4FUH0, A4FV08, A6QQL9, B5FWC0, D2K759, D2K760, D3K5L7, E1C6Q1, F1QH17, O22969, O94973, P16255, P35614, P35615, P46926, P50886, P50894, P58064, P62495, P62496, P62497, P62498, P82931, P82932, Q0VCK5, Q0VCX5, Q1RMS5, Q28IL6, Q3UA06, Q5R4C7, Q5R8T8, Q5R938, Q5U2Q7, Q5ZIJ2, Q5ZKQ6, Q64422, Q6P5R6, Q8BWY3, Q8CJ19, Q8LPJ4
Diamond homologs: P58064, P82931, P82932, Q5ZIJ2, Q9VZD5, Q7SB95, A8HVF1, P28778
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPS6 | “form complex” | “28S mitochondrial small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 111 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 | 22 | 34.6× | 3e-26 |
| Mitochondrial translation initiation | 21 | 34.2× | 3e-25 |
| Mitochondrial translation elongation | 21 | 34.2× | 3e-25 |
| Mitochondrial translation | 19 | 33.5× | 1e-22 |
| Mitochondrial translation termination | 21 | 29.6× | 7e-24 |
| Translation | 20 | 15.9× | 3e-17 |
| Mitochondrial protein degradation | 6 | 8.8× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 22 | 39.8× | 6e-27 |
| translation | 13 | 13.9× | 3e-09 |
| protein phosphorylation | 8 | 5.7× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1460 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:34073742:GCGG:G | donor_gain | 1.0000 |
| 21:34073744:GG:G | donor_gain | 1.0000 |
| 21:34073745:GG:G | donor_gain | 1.0000 |
| 21:34073745:GGT:G | donor_loss | 1.0000 |
| 21:34073746:G:C | donor_loss | 1.0000 |
| 21:34073746:G:GG | donor_gain | 1.0000 |
| 21:34073746:GTAA:G | donor_loss | 1.0000 |
| 21:34073747:T:G | donor_loss | 1.0000 |
| 21:34102909:G:GG | donor_gain | 1.0000 |
| 21:34117659:T:G | donor_gain | 1.0000 |
| 21:34125321:A:AG | acceptor_gain | 1.0000 |
| 21:34125322:A:G | acceptor_gain | 1.0000 |
| 21:34125327:A:AG | acceptor_gain | 1.0000 |
| 21:34125328:C:G | acceptor_gain | 1.0000 |
| 21:34142402:TTGCA:T | acceptor_loss | 1.0000 |
| 21:34142405:CAG:C | acceptor_loss | 1.0000 |
| 21:34142406:A:AG | acceptor_gain | 1.0000 |
| 21:34142406:A:AT | acceptor_loss | 1.0000 |
| 21:34142407:G:A | acceptor_loss | 1.0000 |
| 21:34142407:G:GG | acceptor_gain | 1.0000 |
| 21:34142407:GGT:G | acceptor_gain | 1.0000 |
| 21:34073741:AGCGG:A | donor_gain | 0.9900 |
| 21:34073742:GCGGG:G | donor_gain | 0.9900 |
| 21:34073743:CGG:C | donor_gain | 0.9900 |
| 21:34073744:GGG:G | donor_gain | 0.9900 |
| 21:34125323:A:G | acceptor_gain | 0.9900 |
| 21:34125324:A:AG | acceptor_gain | 0.9900 |
| 21:34125325:A:G | acceptor_gain | 0.9900 |
| 21:34125326:C:G | acceptor_gain | 0.9900 |
| 21:34125329:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
807 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 21:34073717:T:C | L6P | 0.973 |
| 21:34125366:G:C | R24P | 0.973 |
| 21:34142412:T:C | F64L | 0.973 |
| 21:34142414:C:A | F64L | 0.973 |
| 21:34142414:C:G | F64L | 0.973 |
| 21:34142475:G:C | D85H | 0.970 |
| 21:34125477:G:A | G61D | 0.968 |
| 21:34125402:T:A | V36E | 0.967 |
| 21:34125360:T:C | L22S | 0.966 |
| 21:34142413:T:C | F64S | 0.963 |
| 21:34142476:A:C | D85A | 0.963 |
| 21:34142476:A:T | D85V | 0.962 |
| 21:34142419:T:A | V66E | 0.960 |
| 21:34125435:T:A | L47H | 0.958 |
| 21:34142409:T:G | Y63D | 0.954 |
| 21:34142488:T:A | I89N | 0.953 |
| 21:34073713:G:A | E5K | 0.950 |
| 21:34125396:C:A | A34E | 0.950 |
| 21:34125435:T:C | L47P | 0.950 |
| 21:34142430:G:C | A70P | 0.949 |
| 21:34125364:A:C | K23N | 0.947 |
| 21:34125364:A:T | K23N | 0.947 |
| 21:34125395:G:C | A34P | 0.946 |
| 21:34125423:G:T | G43V | 0.944 |
| 21:34142425:T:C | F68S | 0.944 |
| 21:34073733:A:C | K11N | 0.943 |
| 21:34073733:A:T | K11N | 0.943 |
| 21:34125365:C:A | R24S | 0.943 |
| 21:34142485:T:A | V88E | 0.943 |
| 21:34125476:G:C | G61R | 0.941 |
dbSNP variants (sampled 300 via entrez): RS1000064656 (21:34079990 T>C), RS1000090050 (21:34093571 A>G), RS1000156894 (21:34079854 T>G), RS1000190074 (21:34105135 G>A), RS1000196042 (21:34101557 C>G), RS1000204647 (21:34082853 T>A,C), RS1000282999 (21:34126893 G>A,T), RS1000299823 (21:34115620 C>T), RS1000362222 (21:34099044 A>C,G), RS1000373829 (21:34077518 A>G), RS1000517518 (21:34084485 A>G), RS1000566361 (21:34122531 G>A), RS1000637371 (21:34116753 A>G,T), RS1000651003 (21:34098717 A>ACTCTAACTTGACATGGCTTGGCACC), RS1000666878 (21:34116528 A>G)
Disease associations
OMIM: gene MIM:611973 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000340_3 | Myocardial infarction (early onset) | 6.000000e-11 |
| GCST000998_26 | Coronary heart disease | 4.000000e-10 |
| GCST003998_10 | Joint mobility (Beighton score) | 2.000000e-09 |
| GCST011364_31 | Myocardial infarction | 7.000000e-12 |
| GCST011365_35 | Myocardial infarction | 3.000000e-22 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007905 | joint hypermobility measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases methylation, increases expression | 3 |
| Acetaminophen | affects cotreatment, increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, increases expression | 2 |
| Valproic Acid | decreases methylation, increases expression, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | increases expression | 1 |
| testosterone undecanoate | decreases expression, affects cotreatment | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| arsenite | increases methylation | 1 |
| nickel chloride | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | increases expression | 1 |
| deguelin | decreases expression | 1 |
| corosolic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | increases 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): myocardial infarction