MRPL45
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Also known as MGC11321Mba1mL45
Summary
MRPL45 (mitochondrial ribosomal protein L45, HGNC:16651) is a protein-coding gene on chromosome 17q12, encoding Large ribosomal subunit protein mL45 (Q9BRJ2). Component of the mitochondrial large ribosomal subunit (mt-LSU). It is a selective cancer dependency (DepMap: 85.6% 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 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q.
Source: NCBI Gene 84311 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 73 total
- Cancer dependency (DepMap): dependent in 85.6% of screened cell lines
- MANE Select transcript:
NM_032351
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16651 |
| Approved symbol | MRPL45 |
| Name | mitochondrial ribosomal protein L45 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC11321, Mba1, mL45 |
| Ensembl gene | ENSG00000278845 |
| Ensembl biotype | protein_coding |
| OMIM | 611850 |
| Entrez | 84311 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000613675, ENST00000619548, ENST00000862418, ENST00000862419, ENST00000862420, ENST00000862421, ENST00000923665
RefSeq mRNA: 2 — MANE Select: NM_032351
NM_001278279, NM_032351
CCDS: CCDS11326, CCDS74047
Canonical transcript exons
ENST00000613675 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003712130 | 38318687 | 38318735 |
| ENSE00003717728 | 38322126 | 38322299 |
| ENSE00003734020 | 38322509 | 38323211 |
| ENSE00003749332 | 38299351 | 38299468 |
| ENSE00003750715 | 38298449 | 38298626 |
| ENSE00003751713 | 38306533 | 38306631 |
| ENSE00003752416 | 38320618 | 38320767 |
| ENSE00003849743 | 38297168 | 38297249 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 94.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3839 / max 88.6392, expressed in 1715 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160474 | 6.0845 | 1708 |
| 160475 | 0.2994 | 134 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 94.35 | gold quality |
| muscle of leg | UBERON:0001383 | 94.19 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.39 | gold quality |
| cortical plate | UBERON:0005343 | 93.03 | gold quality |
| body of pancreas | UBERON:0001150 | 92.97 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.79 | gold quality |
| rectum | UBERON:0001052 | 92.73 | gold quality |
| pancreas | UBERON:0001264 | 92.67 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.14 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.12 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.87 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.76 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.42 | gold quality |
| body of stomach | UBERON:0001161 | 91.41 | gold quality |
| fundus of stomach | UBERON:0001160 | 91.03 | gold quality |
| left ovary | UBERON:0002119 | 90.94 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 90.93 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.92 | gold quality |
| muscle tissue | UBERON:0002385 | 90.90 | gold quality |
| ovary | UBERON:0000992 | 90.84 | gold quality |
| duodenum | UBERON:0002114 | 90.79 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 90.54 | gold quality |
| heart | UBERON:0000948 | 90.47 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.39 | gold quality |
| placenta | UBERON:0001987 | 90.38 | gold quality |
| lymph node | UBERON:0000029 | 90.21 | gold quality |
| adrenal gland | UBERON:0002369 | 90.19 | gold quality |
| cortex of kidney | UBERON:0001225 | 90.10 | gold quality |
| stomach | UBERON:0000945 | 90.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting MRPL45, 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-5004-3P | 99.54 | 68.27 | 1371 |
| HSA-MIR-4728-3P | 99.47 | 68.94 | 981 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-5584-3P | 99.23 | 68.79 | 1351 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-6871-5P | 98.90 | 66.67 | 671 |
| HSA-MIR-6895-3P | 98.79 | 65.69 | 996 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-2117 | 98.48 | 67.97 | 1307 |
| HSA-MIR-93-3P | 98.15 | 66.65 | 1309 |
| HSA-MIR-4769-3P | 97.95 | 68.17 | 1002 |
| HSA-MIR-6817-5P | 97.95 | 67.86 | 1026 |
| HSA-MIR-3151-3P | 97.80 | 66.16 | 479 |
| HSA-MIR-30C-1-3P | 97.80 | 66.36 | 1499 |
| HSA-MIR-30C-2-3P | 97.80 | 66.45 | 1499 |
| HSA-MIR-6788-5P | 97.80 | 66.41 | 1532 |
| HSA-MIR-3620-3P | 97.78 | 64.88 | 772 |
| HSA-MIR-6511A-3P | 97.60 | 66.61 | 713 |
| HSA-MIR-6511B-3P | 97.60 | 66.61 | 713 |
| HSA-MIR-4732-3P | 97.15 | 65.45 | 881 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 85.6% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl45 | ENSDARG00000044942 |
| mus_musculus | Mrpl45 | ENSMUSG00000018882 |
| rattus_norvegicus | Mrpl45 | ENSRNOG00000010540 |
| drosophila_melanogaster | mRpL45 | FBGN0263863 |
| caenorhabditis_elegans | WBGENE00022493 |
Protein
Protein identifiers
Large ribosomal subunit protein mL45 — Q9BRJ2 (reviewed: Q9BRJ2)
Alternative names: 39S ribosomal protein L45, mitochondrial
All UniProt accessions (2): A0A087WU62, A0A087X2D5
UniProt curated annotations — full annotation on UniProt →
Function. Component of the mitochondrial large ribosomal subunit (mt-LSU). Within the mitochondrial ribosomes, required to direct the nascent polypeptide toward the tunnel exit and position the exit at a distance from the membrane surface.
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 mitochondrion-specific ribosomal protein mL45 family.
RefSeq proteins (2): NP_001265208, NP_115727* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007379 | Tim44-like_dom | Domain |
| IPR032710 | NTF2-like_dom_sf | Homologous_superfamily |
| IPR051975 | mtLSU_mL45 | Family |
Pfam: PF04280
UniProt features (23 total): strand 9, helix 6, turn 3, transit peptide 1, chain 1, region of interest 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
85 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 |
| 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 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRJ2-F1 | 80.90 | 0.52 |
Function
Pathways and Gene Ontology
Reactome pathways
4 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 |
MSigDB gene sets: 146 (showing top):
TGCGCANK_UNKNOWN, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, GOBP_MITOCHONDRIAL_TRANSLATION, CHANDRAN_METASTASIS_DN, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GGARNTKYCCA_UNKNOWN, GOCC_MITOCHONDRIAL_ENVELOPE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, WONG_MITOCHONDRIA_GENE_MODULE, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, TGGAAA_NFAT_Q4_01, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME
GO Biological Process (1): 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 large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| 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 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1456 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL45 | MRPL11 | Q9Y3B7 | 742 |
| MRPL45 | MRPS18B | Q9Y676 | 648 |
| MRPL45 | MRPL48 | Q96GC5 | 646 |
| MRPL45 | MRPS22 | P82650 | 641 |
| MRPL45 | MRPL12 | P52815 | 634 |
| MRPL45 | MRPL53 | Q96EL3 | 616 |
| MRPL45 | MRPL49 | Q13405 | 616 |
| MRPL45 | TIMM44 | O43615 | 607 |
| MRPL45 | MRPS31 | Q92665 | 607 |
| MRPL45 | OXA1L | Q15070 | 588 |
| MRPL45 | LRPPRC | P42704 | 579 |
| MRPL45 | MRPL40 | Q9NQ50 | 578 |
| MRPL45 | MRPS27 | Q92552 | 576 |
| MRPL45 | MRPS18A | Q9NVS2 | 568 |
| MRPL45 | DAP3 | P51398 | 566 |
IntAct
84 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRPL37 | HSPD1 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| TRIM23 | MRPL45 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL45 | TRIM23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAVIN1 | MRPL45 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PFDN5 | MRPL45 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL45 | PLEKHA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EMD | MRPL45 | 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 |
| ZNF331 | USP9Y | 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 |
| RPL6 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | 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 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| Nup188 | RPS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Rpl35 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Pip4k2c | LAMA5 | psi-mi:“MI:0914”(association) | 0.350 |
| Dctn5 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| NCAPD3 | SMC2 | 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 |
| MRPL1 | MRPL43 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXB1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXL1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: A3LYQ7, A5D9T6, A5DTQ6, A6ZML5, A6ZQJ9, A7TQZ1, B3LM44, B3LPY7, B5VL46, B5VPS9, C4QWY8, C4R8C9, C4XVT2, C4XW03, C4Y2I7, C5DKM2, C5DQ08, C5DV23, C7GPZ8, C7GQ96, C8ZB86, C8ZF15, O60186, O94618, P21560, P32453, P38300, P46956, P47015, P53266, P53736, P59480, Q02204, Q03798, Q04472, Q09218, Q09705, Q10275, Q3T142, Q4QQQ4
Diamond homologs: P59480, Q3T142, Q4QQQ4, Q616T6, Q95Y71, Q9BRJ2, Q9D0Q7, Q9VCX3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL45 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 101 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 | 26 | 45.0× | 4e-35 |
| Mitochondrial translation initiation | 24 | 42.9× | 5e-32 |
| Mitochondrial translation elongation | 24 | 42.9× | 5e-32 |
| Mitochondrial translation | 22 | 42.6× | 2e-29 |
| Mitochondrial translation termination | 24 | 37.1× | 2e-30 |
| Translation | 25 | 21.9× | 7e-26 |
| Influenza Infection | 5 | 12.4× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 25 | 49.9× | 6e-34 |
| translation | 17 | 20.1× | 2e-15 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1202 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:38298447:A:AG | acceptor_gain | 1.0000 |
| 17:38298448:G:GG | acceptor_gain | 1.0000 |
| 17:38298448:GCCA:G | acceptor_gain | 1.0000 |
| 17:38299349:A:AG | acceptor_gain | 1.0000 |
| 17:38299349:AGCT:A | acceptor_gain | 1.0000 |
| 17:38299350:G:GG | acceptor_gain | 1.0000 |
| 17:38299350:GCT:G | acceptor_gain | 1.0000 |
| 17:38299350:GCTG:G | acceptor_gain | 1.0000 |
| 17:38299464:GTGTC:G | donor_gain | 1.0000 |
| 17:38299466:GTC:G | donor_gain | 1.0000 |
| 17:38299469:G:GG | donor_gain | 1.0000 |
| 17:38306531:A:AG | acceptor_gain | 1.0000 |
| 17:38306532:G:GG | acceptor_gain | 1.0000 |
| 17:38306627:AATAA:A | donor_gain | 1.0000 |
| 17:38306628:A:G | donor_gain | 1.0000 |
| 17:38306628:ATAA:A | donor_gain | 1.0000 |
| 17:38306629:TAA:T | donor_gain | 1.0000 |
| 17:38306630:AA:A | donor_gain | 1.0000 |
| 17:38306631:AG:A | donor_loss | 1.0000 |
| 17:38306632:G:GG | donor_gain | 1.0000 |
| 17:38306633:TAA:T | donor_loss | 1.0000 |
| 17:38320612:CCTTA:C | acceptor_loss | 1.0000 |
| 17:38320613:CTTA:C | acceptor_loss | 1.0000 |
| 17:38320614:TTAG:T | acceptor_loss | 1.0000 |
| 17:38320616:A:AG | acceptor_gain | 1.0000 |
| 17:38320616:A:C | acceptor_loss | 1.0000 |
| 17:38320616:AG:A | acceptor_gain | 1.0000 |
| 17:38320617:G:A | acceptor_loss | 1.0000 |
| 17:38320617:G:GG | acceptor_gain | 1.0000 |
| 17:38320617:GG:G | acceptor_gain | 1.0000 |
AlphaMissense
2006 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:38320654:T:A | W183R | 0.998 |
| 17:38320654:T:C | W183R | 0.998 |
| 17:38322240:T:A | W259R | 0.998 |
| 17:38322240:T:C | W259R | 0.998 |
| 17:38322147:T:C | F228L | 0.996 |
| 17:38322149:T:A | F228L | 0.996 |
| 17:38322149:T:G | F228L | 0.996 |
| 17:38306612:G:C | A148P | 0.995 |
| 17:38306591:G:C | A141P | 0.994 |
| 17:38306592:C:A | A141D | 0.994 |
| 17:38320751:G:C | R215P | 0.994 |
| 17:38320766:A:C | Q220P | 0.994 |
| 17:38322154:G:C | R230P | 0.994 |
| 17:38322242:G:C | W259C | 0.994 |
| 17:38322242:G:T | W259C | 0.994 |
| 17:38318704:T:C | L160P | 0.993 |
| 17:38322132:G:C | A223P | 0.993 |
| 17:38320656:G:C | W183C | 0.992 |
| 17:38320656:G:T | W183C | 0.992 |
| 17:38322142:A:T | D226V | 0.991 |
| 17:38322245:A:C | R260S | 0.991 |
| 17:38322245:A:T | R260S | 0.991 |
| 17:38306613:C:A | A148D | 0.990 |
| 17:38318719:C:T | T165I | 0.990 |
| 17:38320655:G:C | W183S | 0.990 |
| 17:38306579:T:C | F137L | 0.989 |
| 17:38306581:C:A | F137L | 0.989 |
| 17:38306581:C:G | F137L | 0.989 |
| 17:38306625:T:C | L152P | 0.989 |
| 17:38318704:T:A | L160H | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000020856 (17:38299846 C>T), RS1000033474 (17:38318037 A>G,T), RS1000392358 (17:38322346 T>G), RS1000401130 (17:38296460 A>C), RS1000433911 (17:38295350 A>G,T), RS1000486264 (17:38295596 G>C), RS1000624972 (17:38300990 T>G), RS1000766722 (17:38307122 G>A,C), RS1000999647 (17:38319217 A>G), RS1001013794 (17:38300761 A>G), RS1001071301 (17:38319613 G>A), RS1001434573 (17:38296513 G>A), RS1001491344 (17:38296747 G>C,T), RS1001621153 (17:38302266 C>A), RS1001768648 (17:38308587 C>T)
Disease associations
OMIM: gene MIM:611850 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001941_16 | Ovarian cancer | 8.000000e-10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 4 |
| sodium arsenite | decreases expression | 2 |
| Thapsigargin | increases reaction, increases expression, decreases expression | 2 |
| bisphenol F | increases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| nobiletin | decreases expression, decreases reaction | 1 |
| sodium arsenate | decreases expression, decreases reaction | 1 |
| arsenite | increases reaction, affects binding | 1 |
| caffeic acid | decreases expression, increases reaction | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| 4-methoxycinnamate methyl ester | decreases expression, increases reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | affects cotreatment, decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Drugs, Chinese Herbal | decreases expression, increases reaction | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Tobacco Smoke Pollution | decreases methylation | 1 |
| Tretinoin | decreases expression | 1 |
Cellosaurus cell lines
16 cell lines: 16 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_0179 | BT-474 | Cancer cell line | Female |
| CVCL_4V65 | BT474-5FU[r] | Cancer cell line | Female |
| CVCL_4Y08 | BT-474/CMV-Luc | Cancer cell line | Female |
| CVCL_A2GH | LR-BT474 | Cancer cell line | Female |
| CVCL_A4AK | BT-474 Tam2 | Cancer cell line | Female |
| CVCL_A4CL | BT-474 Ecadherin EmGFP | Cancer cell line | Female |
| CVCL_AQ07 | BT-474 Clone 5 | Cancer cell line | Female |
| CVCL_AR86 | BT-474 Tam1 | Cancer cell line | Female |
| CVCL_AR96 | BT-474 EEI | Cancer cell line | Female |
| CVCL_C9CU | BT-474-Luc2 | Cancer cell line | Female |
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): ovarian carcinoma