MRPS21
gene geneOn this page
Also known as bS21m
Summary
MRPS21 (mitochondrial ribosomal protein S21, HGNC:14046) is a protein-coding gene on chromosome 1q21.2, encoding Small ribosomal subunit protein bS21m (P82921). It is a common-essential gene (DepMap: required in 97.4% of cancer 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 S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5’ UTR; both transcripts encode the same protein.
Source: NCBI Gene 54460 — RefSeq curated summary.
At a glance
- GWAS associations: 19
- Clinical variants (ClinVar): 25 total
- Cancer dependency (DepMap): dependent in 97.4% of screened cell lines (common-essential)
- MANE Select transcript:
NM_031901
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14046 |
| Approved symbol | MRPS21 |
| Name | mitochondrial ribosomal protein S21 |
| Location | 1q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bS21m |
| Ensembl gene | ENSG00000266472 |
| Ensembl biotype | protein_coding |
| OMIM | 611984 |
| Entrez | 54460 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 14 protein_coding
ENST00000581066, ENST00000614145, ENST00000877736, ENST00000877737, ENST00000877738, ENST00000877739, ENST00000935111, ENST00000935112, ENST00000935113, ENST00000935114, ENST00000935115, ENST00000935116, ENST00000935117, ENST00000935118
RefSeq mRNA: 2 — MANE Select: NM_031901
NM_018997, NM_031901
CCDS: CCDS950
Canonical transcript exons
ENST00000614145 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002710928 | 150308048 | 150308979 |
| ENSE00003716402 | 150293861 | 150293898 |
| ENSE00003734455 | 150294335 | 150294449 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 98.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 84.5425 / max 1019.3506, expressed in 1824 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5089 | 84.0442 | 1824 |
| 5090 | 0.4983 | 254 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cardiac muscle of right atrium | UBERON:0003379 | 98.66 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.60 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.43 | gold quality |
| pons | UBERON:0000988 | 98.37 | gold quality |
| sperm | CL:0000019 | 98.30 | gold quality |
| myocardium | UBERON:0002349 | 98.21 | gold quality |
| pancreatic ductal cell | CL:0002079 | 98.14 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 98.06 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.06 | gold quality |
| upper arm skin | UBERON:0004263 | 97.98 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.53 | gold quality |
| renal medulla | UBERON:0000362 | 97.51 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.40 | gold quality |
| adult organism | UBERON:0007023 | 97.38 | gold quality |
| cerebellar vermis | UBERON:0004720 | 97.37 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 97.36 | gold quality |
| vena cava | UBERON:0004087 | 97.35 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.32 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.32 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.21 | gold quality |
| hypothalamus | UBERON:0001898 | 97.15 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.10 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.09 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 97.03 | gold quality |
| trachea | UBERON:0003126 | 97.03 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 97.03 | gold quality |
| superior surface of tongue | UBERON:0007371 | 96.98 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.98 | gold quality |
| body of tongue | UBERON:0011876 | 96.96 | gold quality |
| tongue | UBERON:0001723 | 96.95 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8559 | no | 1029.92 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting MRPS21, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-1273H-3P | 99.29 | 67.55 | 980 |
| HSA-MIR-5693 | 99.24 | 66.67 | 1106 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
| HSA-MIR-3166 | 98.24 | 66.63 | 1223 |
| HSA-MIR-660-5P | 98.16 | 68.27 | 680 |
| HSA-MIR-197-3P | 98.09 | 69.23 | 1004 |
| HSA-MIR-4443 | 98.02 | 66.25 | 1928 |
| HSA-MIR-5000-5P | 97.40 | 66.11 | 1055 |
| HSA-MIR-3664-5P | 96.74 | 66.56 | 770 |
| HSA-MIR-4790-3P | 96.63 | 67.08 | 806 |
| HSA-MIR-1298-3P | 94.05 | 64.84 | 620 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.4% of screened cell lines, common-essential.
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Mrps21 | ENSMUSG00000054312 |
| rattus_norvegicus | Mrps21 | ENSRNOG00000024845 |
Protein
Protein identifiers
Small ribosomal subunit protein bS21m — P82921 (reviewed: P82921)
Alternative names: 28S ribosomal protein S21, mitochondrial
All UniProt accessions (1): P82921
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 bS21 family.
RefSeq proteins (2): NP_061870, NP_114107* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001911 | Ribosomal_bS21 | Family |
| IPR038380 | Ribosomal_bS21_sf | Homologous_superfamily |
Pfam: PF01165
UniProt features (11 total): helix 4, strand 3, sequence variant 2, chain 1, turn 1
Structure
Experimental structures (PDB)
71 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 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 |
| 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 |
| 8QRN | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8OIS | ELECTRON MICROSCOPY | 3 |
| 9G5C | ELECTRON MICROSCOPY | 3 |
| 9G5D | ELECTRON MICROSCOPY | 3 |
| 9H54 | ELECTRON MICROSCOPY | 3 |
| 9HFM | ELECTRON MICROSCOPY | 3 |
| 9PGI | ELECTRON MICROSCOPY | 3.02 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P82921-F1 | 96.48 | 0.96 |
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: 115 (showing top):
PAL_PRMT5_TARGETS_UP, GOBP_MITOCHONDRIAL_TRANSLATION, TGACCTY_ERR1_Q2, SRF_Q5_01, GOBP_TRANSLATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, WANG_LMO4_TARGETS_DN, GGAANCGGAANY_UNKNOWN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GOCC_RIBOSOME, chr1q21, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)
GO Cellular Component (5): 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 |
|---|---|
| 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 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 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
1615 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPS21 | MRPL51 | Q4U2R6 | 625 |
| MRPS21 | MRPS15 | P82914 | 588 |
| MRPS21 | MRPL12 | P52815 | 583 |
| MRPS21 | MRPL52 | Q86TS9 | 578 |
| MRPS21 | RBM23 | Q86U06 | 571 |
| MRPS21 | MRPS33 | Q9Y291 | 555 |
| MRPS21 | GADD45GIP1 | Q8TAE8 | 549 |
| MRPS21 | MRPL11 | Q9Y3B7 | 543 |
| MRPS21 | MRPL10 | Q7Z7H8 | 510 |
| MRPS21 | MRPL45 | Q9BRJ2 | 508 |
| MRPS21 | MRPL37 | Q9BZE1 | 505 |
| MRPS21 | ERAL1 | O75616 | 503 |
| MRPS21 | MRPS6 | P82932 | 496 |
| MRPS21 | MRPL53 | Q96EL3 | 491 |
| MRPS21 | DAP3 | P51398 | 485 |
IntAct
117 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| USP44 | CETN2 | psi-mi:“MI:0914”(association) | 0.690 |
| MRPS27 | MRPS14 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM120A | SYNCRIP | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| MRPS15 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL6 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT10B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC59 | GAPDHS | 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 |
| 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 |
| MRPL2 | GTPBP10 | 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 |
| SRSF3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| AURKAIP1 | NRDC | psi-mi:“MI:0914”(association) | 0.480 |
| Ttll12 | TPM1 | psi-mi:“MI:0914”(association) | 0.350 |
| LDHD | METTL8 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (143): MRPS21 (Affinity Capture-RNA), MRPS21 (Affinity Capture-RNA), MRPS21 (Affinity Capture-RNA), MRPS21 (Affinity Capture-MS), MRPS21 (Affinity Capture-MS), MRPS21 (Affinity Capture-MS), MRPS21 (Affinity Capture-MS), MRPS21 (Affinity Capture-MS), MRPS21 (Affinity Capture-MS), MRPS21 (Co-fractionation), MRPS21 (Affinity Capture-MS), MRPS21 (Affinity Capture-MS), MRPS21 (Affinity Capture-MS), MRPS21 (Affinity Capture-MS), MRPS21 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D8PEY9, A0L8J0, A2Y0T4, A9HS49, O01692, O42984, O80929, O94658, O96647, P02407, P14127, P47964, P58059, P82920, P82921, P93847, P9WEU2, Q08770, Q0DKF0, Q2JLR9, Q2JVE0, Q3T040, Q3T0J3, Q498Z6, Q4MYY1, Q4PM12, Q502B0, Q5I0K8, Q5M818, Q5R7L3, Q5RAZ9, Q5U4Z8, Q5ZMU0, Q6DDY9, Q6DJI4, Q6INF3, Q7SF85, Q80X85, Q92365, Q93VT9
Diamond homologs: A0L8J0, A1B4B5, A1URM1, A3PMA9, A4WVB1, A5CC57, A5FVG6, A5VVM8, A6WYQ4, A7HUU8, A8EY51, A8GP98, A8GT12, A8LLI5, A9B119, A9HS49, A9IM39, A9MCP6, A9WVX6, B0BUK2, B0U7F9, B2A1N7, B2IDB5, B2SD64, B3CTW5, B3DXV4, B3E615, B5YET6, B6ITS4, B6JC20, B8E0F9, B8EIA0, B8INF6, B9KLR1, C0RMB1, C1A4B1, C3PP58, C4K2S8, P66514, P66515
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPS21 | “form complex” | “28S mitochondrial small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 127 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 | 23 | 34.8× | 4e-28 |
| Mitochondrial ribosome-associated quality control | 25 | 33.7× | 8e-30 |
| Mitochondrial translation initiation | 24 | 33.5× | 7e-29 |
| Mitochondrial translation elongation | 24 | 33.5× | 7e-29 |
| Mitochondrial translation termination | 24 | 29.0× | 2e-27 |
| Translation | 26 | 17.7× | 5e-24 |
| mRNA 3’-end processing | 5 | 10.8× | 3e-03 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 5 | 8.4× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 24 | 38.6× | 2e-29 |
| translation | 13 | 12.4× | 1e-08 |
| mRNA splicing, via spliceosome | 8 | 6.8× | 3e-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 | 12 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
416 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:150294445:AACAG:A | donor_loss | 1.0000 |
| 1:150294446:ACAGG:A | donor_loss | 1.0000 |
| 1:150294447:CAGG:C | donor_loss | 1.0000 |
| 1:150294448:AGG:A | donor_loss | 1.0000 |
| 1:150294449:GGTA:G | donor_loss | 1.0000 |
| 1:150294450:G:A | donor_loss | 1.0000 |
| 1:150294451:T:G | donor_loss | 1.0000 |
| 1:150308042:A:AG | acceptor_gain | 1.0000 |
| 1:150308044:A:AG | acceptor_gain | 1.0000 |
| 1:150308045:C:G | acceptor_gain | 1.0000 |
| 1:150308046:A:AG | acceptor_gain | 1.0000 |
| 1:150308046:AGA:A | acceptor_loss | 1.0000 |
| 1:150308047:G:GT | acceptor_gain | 1.0000 |
| 1:150308047:GA:G | acceptor_gain | 1.0000 |
| 1:150308047:GAA:G | acceptor_gain | 1.0000 |
| 1:150308047:GAAT:G | acceptor_gain | 1.0000 |
| 1:150308047:GAATC:G | acceptor_gain | 1.0000 |
| 1:150294333:A:AG | acceptor_gain | 0.9900 |
| 1:150294334:G:GG | acceptor_gain | 0.9900 |
| 1:150295547:T:TA | donor_gain | 0.9900 |
| 1:150295548:A:AA | donor_gain | 0.9900 |
| 1:150308035:T:TA | acceptor_gain | 0.9900 |
| 1:150308043:T:G | acceptor_gain | 0.9900 |
| 1:150293879:C:G | donor_gain | 0.9800 |
| 1:150294332:TAGGC:T | acceptor_loss | 0.9800 |
| 1:150294333:AG:A | acceptor_gain | 0.9800 |
| 1:150294334:GG:G | acceptor_gain | 0.9800 |
| 1:150294412:G:GT | donor_gain | 0.9800 |
| 1:150294334:GGC:G | acceptor_gain | 0.9700 |
| 1:150295535:G:GT | donor_gain | 0.9700 |
AlphaMissense
578 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:150294385:T:C | F7L | 0.935 |
| 1:150294387:C:A | F7L | 0.935 |
| 1:150294387:C:G | F7L | 0.935 |
| 1:150308184:T:C | F74L | 0.867 |
| 1:150308186:C:A | F74L | 0.867 |
| 1:150308186:C:G | F74L | 0.867 |
| 1:150294431:C:A | A22E | 0.804 |
| 1:150308053:T:C | L30P | 0.789 |
| 1:150308126:G:C | R54S | 0.783 |
| 1:150308126:G:T | R54S | 0.783 |
| 1:150308177:G:C | K71N | 0.779 |
| 1:150308177:G:T | K71N | 0.779 |
| 1:150294401:T:A | V12E | 0.777 |
| 1:150308119:G:C | R52P | 0.758 |
| 1:150308102:G:C | E46D | 0.750 |
| 1:150308102:G:T | E46D | 0.750 |
| 1:150308216:G:C | W84C | 0.742 |
| 1:150308216:G:T | W84C | 0.742 |
| 1:150294396:G:C | R10S | 0.741 |
| 1:150294396:G:T | R10S | 0.741 |
| 1:150308105:G:C | K47N | 0.734 |
| 1:150308105:G:T | K47N | 0.734 |
| 1:150308173:G:C | R70P | 0.718 |
| 1:150308149:G:C | R62P | 0.716 |
| 1:150308168:G:A | M68I | 0.714 |
| 1:150308168:G:C | M68I | 0.714 |
| 1:150308168:G:T | M68I | 0.714 |
| 1:150294398:C:T | T11I | 0.713 |
| 1:150308214:T:A | W84R | 0.690 |
| 1:150308214:T:C | W84R | 0.690 |
dbSNP variants (sampled 300 via entrez): RS1000089259 (1:150293124 G>A), RS1000249835 (1:150292875 G>C), RS1000606297 (1:150309154 G>A), RS1000758770 (1:150302640 C>T), RS1000910292 (1:150297170 A>G), RS1000941731 (1:150302333 C>T), RS1001467394 (1:150292308 G>A), RS1002042691 (1:150302035 T>A,C,G), RS1002110025 (1:150308633 A>C), RS1002195444 (1:150296783 A>C), RS1002260289 (1:150302274 T>C), RS1002290939 (1:150308369 A>G), RS1002737577 (1:150296521 T>A,G), RS1002892562 (1:150306849 C>G,T), RS1003047549 (1:150300641 G>A,C)
Disease associations
OMIM: gene MIM:611984 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003184_1 | Atopic dermatitis | 5.000000e-09 |
| GCST003184_11 | Atopic dermatitis | 1.000000e-07 |
| GCST004946_24 | Schizophrenia | 5.000000e-09 |
| GCST005038_31 | Allergic disease (asthma, hay fever or eczema) | 1.000000e-09 |
| GCST008059_93 | Estimated glomerular filtration rate | 3.000000e-19 |
| GCST008745_86 | Estimated glomerular filtration rate in non-diabetics | 5.000000e-09 |
| GCST008747_130 | Estimated glomerular filtration rate | 3.000000e-10 |
| GCST010002_366 | Refractive error | 3.000000e-15 |
| GCST010696_11 | Cortical thickness (min-P) | 2.000000e-23 |
| GCST010697_17 | Cortical surface area (min-P) | 9.000000e-09 |
| GCST010698_23 | Subcortical volume (min-P) | 2.000000e-08 |
| GCST010699_48 | Brain morphology (min-P) | 3.000000e-08 |
| GCST010700_28 | Cortical thickness (MOSTest) | 8.000000e-38 |
| GCST010701_113 | Cortical surface area (MOSTest) | 9.000000e-12 |
| GCST010702_126 | Subcortical volume (MOSTest) | 4.000000e-09 |
| GCST010703_244 | Brain morphology (MOSTest) | 9.000000e-12 |
| GCST011352_16 | Alanine aminotransferase levels | 2.000000e-08 |
| GCST012332_47 | Multisite chronic pain | 1.000000e-10 |
| GCST90020028_621 | Hip circumference adjusted for BMI | 9.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0010100 | multisite chronic pain |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| chloropicrin | affects expression, decreases expression | 2 |
| Leflunomide | decreases expression | 2 |
| Acetaminophen | increases expression, affects cotreatment, decreases expression | 2 |
| bisphenol A | decreases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| methylparaben | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Estradiol | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Polycyclic Aromatic Hydrocarbons | decreases expression, increases abundance, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | 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): allergic disease, atopic eczema