MRPL22
gene geneOn this page
Also known as MRP-L25RPML25HSPC158uL22m
Summary
MRPL22 (mitochondrial ribosomal protein L22, HGNC:14480) is a protein-coding gene on chromosome 5q33.2, encoding Large ribosomal subunit protein uL22m (Q9NWU5). It is a selective cancer dependency (DepMap: 26.5% of cell lines).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 29093 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 38 total
- Cancer dependency (DepMap): dependent in 26.5% of screened cell lines
- MANE Select transcript:
NM_014180
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14480 |
| Approved symbol | MRPL22 |
| Name | mitochondrial ribosomal protein L22 |
| Location | 5q33.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRP-L25, RPML25, HSPC158, uL22m |
| Ensembl gene | ENSG00000082515 |
| Ensembl biotype | protein_coding |
| OMIM | 611835 |
| Entrez | 29093 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000265229, ENST00000439747, ENST00000518364, ENST00000519059, ENST00000520040, ENST00000522038, ENST00000523037, ENST00000906691
RefSeq mRNA: 2 — MANE Select: NM_014180
NM_001014990, NM_014180
CCDS: CCDS4331, CCDS43391
Canonical transcript exons
ENST00000523037 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001381368 | 154966686 | 154969411 |
| ENSE00001892134 | 154941073 | 154941138 |
| ENSE00002287179 | 154950821 | 154950938 |
| ENSE00003490468 | 154956371 | 154956436 |
| ENSE00003531059 | 154959980 | 154960049 |
| ENSE00003534814 | 154957135 | 154957212 |
| ENSE00003673273 | 154941217 | 154941265 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 94.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.5351 / max 332.3969, expressed in 1810 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 59758 | 26.5351 | 1810 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 94.58 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.45 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.30 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.22 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.16 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.08 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.71 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.69 | gold quality |
| left testis | UBERON:0004533 | 93.58 | gold quality |
| heart | UBERON:0000948 | 93.53 | gold quality |
| apex of heart | UBERON:0002098 | 93.34 | gold quality |
| cardiac atrium | UBERON:0002081 | 93.30 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.26 | gold quality |
| testis | UBERON:0000473 | 93.23 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.17 | gold quality |
| right testis | UBERON:0004534 | 93.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.14 | gold quality |
| body of pancreas | UBERON:0001150 | 93.05 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.77 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.64 | gold quality |
| adrenal gland | UBERON:0002369 | 92.45 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.44 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.43 | gold quality |
| lower esophagus | UBERON:0013473 | 92.33 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.33 | gold quality |
| pancreas | UBERON:0001264 | 92.30 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.30 | gold quality |
| adrenal cortex | UBERON:0001235 | 92.29 | gold quality |
| rectum | UBERON:0001052 | 92.25 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.18 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
89 targeting MRPL22, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 26.5% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl22 | ENSDARG00000109961 |
| mus_musculus | Mrpl22 | ENSMUSG00000020514 |
| rattus_norvegicus | Mrpl22 | ENSRNOG00000027039 |
| drosophila_melanogaster | mRpL22 | FBGN0030786 |
| caenorhabditis_elegans | WBGENE00012645 |
Protein
Protein identifiers
Large ribosomal subunit protein uL22m — Q9NWU5 (reviewed: Q9NWU5)
Alternative names: 39S ribosomal protein L22, mitochondrial, 39S ribosomal protein L25, mitochondrial
All UniProt accessions (4): Q9NWU5, E7ESL0, H0YBZ7, J3KQY1
UniProt curated annotations — full annotation on UniProt →
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.
Subcellular location. Mitochondrion.
Similarity. Belongs to the universal ribosomal protein uL22 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NWU5-1 | 1 | yes |
| Q9NWU5-2 | 2 | |
| Q9NWU5-3 | 3 |
RefSeq proteins (2): NP_001014990, NP_054899* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001063 | Ribosomal_uL22 | Family |
| IPR036394 | Ribosomal_uL22_sf | Homologous_superfamily |
| IPR047867 | Ribosomal_uL22_bact_org | Family |
Pfam: PF00237
UniProt features (19 total): strand 8, helix 6, splice variant 2, transit peptide 1, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
73 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 |
| 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 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8QSJ | ELECTRON MICROSCOPY | 3 |
| 9UWH | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NWU5-F1 | 86.07 | 0.75 |
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: 105 (showing top):
TGCGCANK_UNKNOWN, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MITOCHONDRIAL_TRANSLATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, TIEN_INTESTINE_PROBIOTICS_24HR_UP, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE
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 (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), 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 |
| 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 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
3672 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL22 | RPL17 | P18621 | 571 |
| MRPL22 | MRPS6 | P82932 | 552 |
| MRPL22 | MRPL11 | Q9Y3B7 | 550 |
| MRPL22 | MRPS11 | P82912 | 541 |
| MRPL22 | MRPL19 | P49406 | 528 |
| MRPL22 | UQCRHL | A0A096LP55 | 512 |
| MRPL22 | RPS17 | P08708 | 478 |
| MRPL22 | PSMA4 | P25789 | 404 |
| MRPL22 | UBL5 | Q9BZL1 | 401 |
| MRPL22 | RPL37 | P02403 | 384 |
| MRPL22 | COA5 | Q86WW8 | 380 |
| MRPL22 | EARS2 | Q5JPH6 | 376 |
| MRPL22 | UQCRQ | O14949 | 374 |
| MRPL22 | CHCHD7 | Q9BUK0 | 366 |
| MRPL22 | MRPL1 | Q9BYD6 | 353 |
| MRPL22 | MRPS14 | O60783 | 353 |
IntAct
133 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| GLP1R | MRPL22 | psi-mi:“MI:0915”(physical association) | 0.540 |
| MRPL22 | GLP1R | psi-mi:“MI:0915”(physical association) | 0.540 |
| GLP1R | MRPL22 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| 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 |
| MRPL41 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | RRP8 | 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 |
| steC | SCD | psi-mi:“MI:0914”(association) | 0.460 |
| MRPL22 | SF3A1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ppp2ca | DKFZP586J0619 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL50 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL9 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (255): MRPL22 (Affinity Capture-RNA), MRPL22 (Affinity Capture-RNA), MRPL22 (Affinity Capture-MS), MRPL22 (Affinity Capture-MS), MRPL22 (Affinity Capture-MS), MRPL22 (Affinity Capture-MS), MRPL22 (Affinity Capture-MS), MRPL22 (Affinity Capture-MS), MRPL22 (Affinity Capture-MS), MRPL10 (Co-fractionation), MRPL17 (Co-fractionation), MRPL2 (Co-fractionation), MRPL22 (Co-fractionation), MRPL22 (Co-fractionation), MRPL22 (Co-fractionation)
ESM2 similar proteins: A2VE61, A5PJM7, B5FWC0, D4ABL6, E9PV86, F1QH17, O35972, O95782, P0C2C0, P0C7P0, P13984, P17426, P52848, Q01750, Q02353, Q08200, Q16540, Q2T9L9, Q3SZB3, Q3SZX5, Q3UHN9, Q3UMR5, Q3ZCQ8, Q4V8I4, Q5R7B1, Q5RAH3, Q5RAJ8, Q5U4X8, Q63750, Q6IQS9, Q6P6G7, Q6P6Q9, Q6TH22, Q7ZYA7, Q86TD4, Q8BU88, Q8CIW5, Q8NE86, Q8R0A0, Q8TF64
Diamond homologs: A1B032, A1KB22, A1TJ12, A1VIQ5, A1W2R2, A1WHD0, A2SLF2, A4G9T3, A4SUW6, A4YSJ7, A5ELM2, A5EX77, A5IM88, A5WCJ5, A6LLL8, A6LPR6, A6T3J9, A6U864, A7MWI8, A8F4R6, A8LM59, A8YXL0, A9BPS3, A9IIZ3, A9W4Q6, B0CH27, B0RZU5, B0V6X3, B0VQS3, B1LBN5, B1Z757, B2HZL7, B2IK67, B2UEL4, B3PK42, B4R8M2, B6IRR1, B7IHV1, B7L0R6, B8ELF8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL22 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 112 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 | 32 | 52.4× | 1e-46 |
| Mitochondrial translation initiation | 28 | 47.4× | 3e-39 |
| Mitochondrial translation elongation | 28 | 47.4× | 3e-39 |
| Mitochondrial translation | 25 | 45.9× | 2e-34 |
| Mitochondrial translation termination | 28 | 41.0× | 3e-37 |
| Translation | 26 | 21.5× | 1e-26 |
| Mitochondrial protein degradation | 6 | 9.1× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 30 | 54.3× | 1e-42 |
| mitochondrial large ribosomal subunit assembly | 5 | 51.6× | 4e-06 |
| translation | 19 | 20.3× | 1e-17 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
38 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1106 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:154950936:GCA:G | donor_gain | 1.0000 |
| 5:154950939:G:GG | donor_gain | 1.0000 |
| 5:154956361:A:AG | acceptor_gain | 1.0000 |
| 5:154956361:AATTT:A | acceptor_gain | 1.0000 |
| 5:154956362:A:AG | acceptor_gain | 1.0000 |
| 5:154956363:T:G | acceptor_gain | 1.0000 |
| 5:154956365:T:A | acceptor_gain | 1.0000 |
| 5:154956368:A:AG | acceptor_gain | 1.0000 |
| 5:154956368:AAG:A | acceptor_gain | 1.0000 |
| 5:154956369:A:G | acceptor_gain | 1.0000 |
| 5:154956433:ATTGG:A | donor_loss | 1.0000 |
| 5:154956434:TTGGT:T | donor_loss | 1.0000 |
| 5:154956435:TGG:T | donor_loss | 1.0000 |
| 5:154956436:GGT:G | donor_loss | 1.0000 |
| 5:154956437:G:GC | donor_loss | 1.0000 |
| 5:154956437:G:GG | donor_gain | 1.0000 |
| 5:154956438:TAAGC:T | donor_loss | 1.0000 |
| 5:154957120:A:AG | acceptor_gain | 1.0000 |
| 5:154957121:C:G | acceptor_gain | 1.0000 |
| 5:154957127:A:AG | acceptor_gain | 1.0000 |
| 5:154957128:A:AG | acceptor_gain | 1.0000 |
| 5:154957130:TCTA:T | acceptor_loss | 1.0000 |
| 5:154957131:CTA:C | acceptor_loss | 1.0000 |
| 5:154957132:TA:T | acceptor_loss | 1.0000 |
| 5:154957133:A:AG | acceptor_gain | 1.0000 |
| 5:154957134:G:GA | acceptor_gain | 1.0000 |
| 5:154957134:GA:G | acceptor_gain | 1.0000 |
| 5:154957134:GAT:G | acceptor_gain | 1.0000 |
| 5:154957134:GATA:G | acceptor_gain | 1.0000 |
| 5:154957134:GATAC:G | acceptor_gain | 1.0000 |
AlphaMissense
1330 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:154959992:G:C | A118P | 0.996 |
| 5:154966791:T:C | L172S | 0.994 |
| 5:154959984:T:A | L115H | 0.993 |
| 5:154957159:G:C | A96P | 0.992 |
| 5:154959984:T:C | L115P | 0.990 |
| 5:154966785:T:A | V170E | 0.989 |
| 5:154966774:C:G | C166W | 0.988 |
| 5:154956387:G:C | R71P | 0.987 |
| 5:154957136:T:A | I88K | 0.987 |
| 5:154959984:T:G | L115R | 0.987 |
| 5:154960028:T:C | F130L | 0.987 |
| 5:154960030:C:A | F130L | 0.987 |
| 5:154960030:C:G | F130L | 0.987 |
| 5:154960041:T:C | L134S | 0.987 |
| 5:154960047:T:A | I136K | 0.987 |
| 5:154957177:T:C | F102L | 0.986 |
| 5:154957179:C:A | F102L | 0.986 |
| 5:154957179:C:G | F102L | 0.986 |
| 5:154966778:T:G | Y168D | 0.986 |
| 5:154957192:G:A | G107R | 0.985 |
| 5:154957192:G:C | G107R | 0.985 |
| 5:154957192:G:T | G107W | 0.985 |
| 5:154960005:C:A | A122E | 0.985 |
| 5:154966691:T:C | S139P | 0.984 |
| 5:154957160:C:A | A96D | 0.983 |
| 5:154966728:G:C | R151P | 0.983 |
| 5:154966772:T:C | C166R | 0.983 |
| 5:154960004:G:C | A122P | 0.981 |
| 5:154966773:G:A | C166Y | 0.981 |
| 5:154956404:A:C | S77R | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000030775 (5:154947487 A>G), RS1000072418 (5:154940356 T>G), RS1000128735 (5:154947368 G>A), RS1000199325 (5:154945776 A>G), RS1000267219 (5:154965693 A>G,T), RS1000291103 (5:154946443 A>G), RS1000485126 (5:154953973 A>C), RS1000760324 (5:154958011 C>G,T), RS1000826347 (5:154959349 C>T), RS1000890618 (5:154955075 G>A), RS1000948316 (5:154957720 G>C), RS1001034324 (5:154968815 G>A), RS1001231744 (5:154956900 G>A,T), RS1001268686 (5:154963377 T>C), RS1001330094 (5:154961843 C>T)
Disease associations
OMIM: gene MIM:611835 | 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 |
|---|---|---|
| GCST004630_150 | Mean corpuscular hemoglobin | 1.000000e-28 |
| GCST90002390_145 | Mean corpuscular hemoglobin | 5.000000e-38 |
| GCST90002391_37 | Mean corpuscular hemoglobin concentration | 1.000000e-11 |
| GCST90002392_641 | Mean corpuscular volume | 1.000000e-21 |
| GCST90002403_414 | Red blood cell count | 3.000000e-12 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | increases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| quercitrin | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases activity | 1 |
| beta-methylcholine | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | increases expression | 1 |
| Methotrexate | affects cotreatment, decreases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Antirheumatic Agents | affects cotreatment, decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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.