MRPL17
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Also known as RPML26MRP-L26bL17m
Summary
MRPL17 (mitochondrial ribosomal protein L17, HGNC:14053) is a protein-coding gene on chromosome 11p15.4, encoding Large ribosomal subunit protein bL17m (Q9NRX2). It is a selective cancer dependency (DepMap: 49.7% 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.
Source: NCBI Gene 63875 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 39 total
- Cancer dependency (DepMap): dependent in 49.7% of screened cell lines
- MANE Select transcript:
NM_022061
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14053 |
| Approved symbol | MRPL17 |
| Name | mitochondrial ribosomal protein L17 |
| Location | 11p15.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPML26, MRP-L26, bL17m |
| Ensembl gene | ENSG00000158042 |
| Ensembl biotype | protein_coding |
| OMIM | 611830 |
| Entrez | 63875 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000288937, ENST00000529958, ENST00000532203, ENST00000532676, ENST00000921844, ENST00000921845, ENST00000921846
RefSeq mRNA: 1 — MANE Select: NM_022061
NM_022061
CCDS: CCDS31412
Canonical transcript exons
ENST00000288937 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001036733 | 6682747 | 6682815 |
| ENSE00001188391 | 6680385 | 6682402 |
| ENSE00001220106 | 6683123 | 6683340 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 96.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.6270 / max 178.9909, expressed in 1821 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 118458 | 49.6270 | 1821 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 96.48 | gold quality |
| apex of heart | UBERON:0002098 | 95.02 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.21 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.00 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.82 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.75 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.66 | gold quality |
| pituitary gland | UBERON:0000007 | 93.57 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.47 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.35 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.17 | gold quality |
| periodontal ligament | UBERON:0008266 | 93.07 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.75 | gold quality |
| adrenal gland | UBERON:0002369 | 92.74 | gold quality |
| adrenal cortex | UBERON:0001235 | 92.70 | gold quality |
| cardiac ventricle | UBERON:0002082 | 92.63 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.15 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.10 | gold quality |
| ventricular zone | UBERON:0003053 | 91.89 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.76 | gold quality |
| parotid gland | UBERON:0001831 | 91.68 | silver quality |
| heart | UBERON:0000948 | 91.46 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 91.38 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.35 | gold quality |
| cartilage tissue | UBERON:0002418 | 91.33 | gold quality |
| gall bladder | UBERON:0002110 | 91.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.14 | gold quality |
| body of pancreas | UBERON:0001150 | 90.47 | gold quality |
| cardiac atrium | UBERON:0002081 | 90.28 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.24 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.71 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF
miRNA regulators (miRDB)
78 targeting MRPL17, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-4658 | 99.77 | 64.94 | 514 |
| HSA-MIR-6790-5P | 99.77 | 65.24 | 505 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-548BA | 99.69 | 69.14 | 1514 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-6513-3P | 99.59 | 69.77 | 1102 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 49.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- High levels of LIP2 were found in serum and synovial fluid of rheumatoid arthritis patients, providing evidence for a cytokine-like role. (PMID:18162190)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl17 | ENSDARG00000075677 |
| mus_musculus | Mrpl17 | ENSMUSG00000030879 |
| rattus_norvegicus | Mrpl17 | ENSRNOG00000019497 |
| caenorhabditis_elegans | mrpl-17 | WBGENE00021829 |
Protein
Protein identifiers
Large ribosomal subunit protein bL17m — Q9NRX2 (reviewed: Q9NRX2)
Alternative names: 39S ribosomal protein L17, mitochondrial, LYST-interacting protein 2
All UniProt accessions (2): E9PKV2, Q9NRX2
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.
Tissue specificity. Detected in adrenal gland, mammary gland and adipose tissue.
Similarity. Belongs to the bacterial ribosomal protein bL17 family.
RefSeq proteins (1): NP_071344* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000456 | Ribosomal_bL17 | Family |
| IPR036373 | Ribosomal_bL17_sf | Homologous_superfamily |
Pfam: PF01196
UniProt features (17 total): helix 6, strand 5, transit peptide 1, chain 1, turn 1, region of interest 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
87 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-Q9NRX2-F1 | 93.51 | 0.87 |
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: 154 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, HONMA_DOCETAXEL_RESISTANCE, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, PU1_Q6, FISCHER_DREAM_TARGETS, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, GRADE_COLON_AND_RECTAL_CANCER_UP, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME
GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)
GO Molecular Function (3): structural constituent of ribosome (GO:0003735), protein domain specific binding (GO:0019904), protein binding (GO:0005515)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), 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 |
|---|---|
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| protein binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2995 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL17 | MRPL24 | Q96A35 | 753 |
| MRPL17 | MRPL11 | Q9Y3B7 | 745 |
| MRPL17 | MRPL4 | Q9BYD3 | 708 |
| MRPL17 | MRPL21 | Q7Z2W9 | 704 |
| MRPL17 | MRPL16 | Q9NX20 | 666 |
| MRPL17 | MRPL36 | Q9P0J6 | 647 |
| MRPL17 | MRPL12 | P52815 | 645 |
| MRPL17 | MRPL13 | Q9BYD1 | 644 |
| MRPL17 | MRPL19 | P49406 | 627 |
| MRPL17 | MRPS12 | O15235 | 607 |
| MRPL17 | MRPL32 | Q9BYC8 | 593 |
| MRPL17 | MRPL33 | O75394 | 578 |
| MRPL17 | MRPL45 | Q9BRJ2 | 555 |
| MRPL17 | MRPL9 | Q9BYD2 | 542 |
| MRPL17 | MRPS16 | Q9Y3D3 | 542 |
IntAct
139 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MIS12 | ZWINT | psi-mi:“MI:0914”(association) | 0.900 |
| YBX1 | SSB | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| HNRNPF | MRPL17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBTD2 | MRPL17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | 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 |
| RSPRY1 | NEFL | 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 |
| NGRN | RPL7 | 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 |
| HCCS | MROH1 | psi-mi:“MI:0914”(association) | 0.350 |
| UBA5 | P4HA1 | psi-mi:“MI:0914”(association) | 0.350 |
| BAG6 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL50 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (205): MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation)
ESM2 similar proteins: A0BD73, A0CEY2, A3DJK2, A5GFQ0, B3CT30, B6YQ59, O14006, O42991, O43004, O49885, O65055, O74464, O94150, O94345, P0DJ15, P22353, P26785, P38064, P38120, P47150, Q04PW6, Q10129, Q1K8C8, Q27389, Q3T0L3, Q54TY5, Q5AB87, Q5RAH8, Q5RCA3, Q60R52, Q6BIJ5, Q6CFK6, Q6CJ65, Q6FL25, Q6PDW6, Q72NI9, Q7S5N0, Q95Q11, Q9D8P4, Q9FKC0
Diamond homologs: A0LIL8, A0PXX6, A1ALW8, A1USR9, A1W1J8, A3PGN6, A4IJL5, A4J140, A4XLQ1, A4YSL7, A5D5F0, A5ELK2, A5FZU0, A5GAU7, A5I7H6, A5N4S6, A6LPU1, A6Q1K5, A6TWF2, A7FZ43, A7GJ44, A7HBP6, A7HWT6, A7IPP5, A8FNQ8, A8LM82, A8MLH0, B0K5S2, B0KCM9, B1I1B4, B1IGC4, B1KSJ5, B2IF97, B2TIK5, B2UYE0, B3E858, B3QB18, B4R8P2, B4U773, B5YG21
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL17 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 129 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 35 | 45.2× | 2e-48 |
| Mitochondrial translation | 30 | 43.5× | 4e-41 |
| Mitochondrial translation initiation | 32 | 42.7× | 2e-43 |
| Mitochondrial translation elongation | 32 | 42.7× | 2e-43 |
| Mitochondrial translation termination | 32 | 37.0× | 3e-41 |
| Translation | 32 | 20.9× | 1e-32 |
| Peptide chain elongation | 11 | 14.7× | 7e-09 |
| Viral mRNA Translation | 11 | 14.7× | 7e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 35 | 53.3× | 4e-50 |
| translation | 26 | 23.4× | 3e-26 |
| cytoplasmic translation | 11 | 17.9× | 4e-09 |
| negative regulation of translation | 8 | 13.8× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
194 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:6682400:CTC:C | acceptor_gain | 1.0000 |
| 11:6682403:CTA:C | acceptor_loss | 1.0000 |
| 11:6682742:CTCA:C | donor_gain | 1.0000 |
| 11:6682743:TCA:T | donor_loss | 1.0000 |
| 11:6682744:CACTG:C | donor_loss | 1.0000 |
| 11:6682745:A:AC | donor_gain | 1.0000 |
| 11:6682745:AC:A | donor_loss | 1.0000 |
| 11:6682746:C:CC | donor_gain | 1.0000 |
| 11:6682746:CT:C | donor_gain | 1.0000 |
| 11:6682746:CTG:C | donor_gain | 1.0000 |
| 11:6683117:CCTCA:C | donor_loss | 1.0000 |
| 11:6683118:CTCA:C | donor_loss | 1.0000 |
| 11:6683119:TCA:T | donor_loss | 1.0000 |
| 11:6683120:CA:C | donor_loss | 1.0000 |
| 11:6683121:ACCTT:A | donor_loss | 1.0000 |
| 11:6682401:TC:T | acceptor_gain | 0.9900 |
| 11:6682402:CC:C | acceptor_gain | 0.9900 |
| 11:6682403:C:CC | acceptor_gain | 0.9900 |
| 11:6682404:T:A | acceptor_loss | 0.9900 |
| 11:6682740:CACT:C | donor_loss | 0.9900 |
| 11:6682741:A:AC | donor_gain | 0.9900 |
| 11:6682742:C:CC | donor_gain | 0.9900 |
| 11:6682746:CTGT:C | donor_gain | 0.9900 |
| 11:6682746:CTGTG:C | donor_gain | 0.9900 |
| 11:6682845:C:CT | acceptor_gain | 0.9900 |
| 11:6682846:G:T | acceptor_gain | 0.9900 |
| 11:6683121:A:AC | donor_gain | 0.9900 |
| 11:6683122:C:CC | donor_gain | 0.9900 |
| 11:6683122:CCTT:C | donor_gain | 0.9900 |
| 11:6683134:AGCC:A | donor_gain | 0.9900 |
AlphaMissense
1135 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:6682376:A:C | F90L | 0.989 |
| 11:6682376:A:T | F90L | 0.989 |
| 11:6682378:A:G | F90L | 0.989 |
| 11:6682756:G:C | F78L | 0.986 |
| 11:6682756:G:T | F78L | 0.986 |
| 11:6682758:A:G | F78L | 0.986 |
| 11:6683178:T:A | E40V | 0.986 |
| 11:6682802:C:T | G63E | 0.984 |
| 11:6682751:A:G | L80P | 0.982 |
| 11:6682803:C:A | G63W | 0.982 |
| 11:6683208:C:G | R30P | 0.980 |
| 11:6682382:C:A | K88N | 0.979 |
| 11:6682382:C:G | K88N | 0.979 |
| 11:6682755:A:G | W79R | 0.979 |
| 11:6682755:A:T | W79R | 0.979 |
| 11:6683131:C:G | A56P | 0.979 |
| 11:6683130:G:T | A56E | 0.978 |
| 11:6682284:G:T | A121E | 0.977 |
| 11:6682763:G:T | A76D | 0.977 |
| 11:6682814:A:G | L59P | 0.977 |
| 11:6682285:C:G | A121P | 0.976 |
| 11:6682751:A:T | L80H | 0.976 |
| 11:6683175:C:G | R41P | 0.976 |
| 11:6682814:A:T | L59H | 0.974 |
| 11:6683142:A:C | M52R | 0.971 |
| 11:6683176:G:T | R41S | 0.970 |
| 11:6682377:A:G | F90S | 0.967 |
| 11:6682278:A:T | I123N | 0.966 |
| 11:6682764:C:G | A76P | 0.966 |
| 11:6683142:A:T | M52K | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000018626 (11:6681222 C>T), RS1000046549 (11:6681463 T>A,C), RS1001069451 (11:6682366 CCAGT>C), RS1001473790 (11:6680455 G>T), RS1001631815 (11:6680780 C>A,G), RS1003233793 (11:6683737 G>A), RS1003266776 (11:6684034 T>C), RS1003298026 (11:6684317 C>T), RS1004169316 (11:6681647 T>TC), RS1004263215 (11:6681911 G>A,C), RS1004586642 (11:6682017 C>G,T), RS1005546082 (11:6681814 C>G,T), RS1005553707 (11:6683046 G>A,C), RS1005976124 (11:6680735 G>T), RS1006046341 (11:6685223 G>T)
Disease associations
OMIM: gene MIM:611830 | 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 |
|---|---|---|
| GCST010725_20 | Malaria | 4.000000e-69 |
| GCST010725_33 | Malaria | 2.000000e-67 |
| GCST010725_51 | Malaria | 1.000000e-55 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects splicing, decreases expression, increases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| arsenite | affects binding, increases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases 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 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | affects cotreatment, affects expression, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, affects expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Dronabinol | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Copper Sulfate | decreases 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): malaria