MRPL48
gene geneOn this page
Also known as CGI-118mL48
Summary
MRPL48 (mitochondrial ribosomal protein L48, HGNC:16653) is a protein-coding gene on chromosome 11q13.4, encoding Large ribosomal subunit protein mL48 (Q96GC5). It is a selective cancer dependency (DepMap: 15.1% 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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene.
Source: NCBI Gene 51642 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 40 total
- Cancer dependency (DepMap): dependent in 15.1% of screened cell lines
- MANE Select transcript:
NM_016055
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16653 |
| Approved symbol | MRPL48 |
| Name | mitochondrial ribosomal protein L48 |
| Location | 11q13.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-118, mL48 |
| Ensembl gene | ENSG00000175581 |
| Ensembl biotype | protein_coding |
| OMIM | 611853 |
| Entrez | 51642 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 11 protein_coding, 5 nonsense_mediated_decay, 1 retained_intron
ENST00000310614, ENST00000314282, ENST00000398483, ENST00000411840, ENST00000497094, ENST00000508278, ENST00000535277, ENST00000537007, ENST00000540162, ENST00000542303, ENST00000543058, ENST00000543374, ENST00000544140, ENST00000544819, ENST00000889271, ENST00000930868, ENST00000930869
RefSeq mRNA: 4 — MANE Select: NM_016055
NM_001318498, NM_001318499, NM_001318500, NM_016055
CCDS: CCDS44676, CCDS81594
Canonical transcript exons
ENST00000310614 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002304630 | 73864296 | 73865133 |
| ENSE00002308823 | 73787874 | 73787992 |
| ENSE00003537545 | 73808313 | 73808350 |
| ENSE00003541477 | 73805027 | 73805079 |
| ENSE00003562003 | 73825708 | 73825796 |
| ENSE00003591357 | 73844807 | 73844976 |
| ENSE00003600762 | 73863172 | 73863261 |
| ENSE00003671203 | 73859907 | 73860009 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 95.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.0974 / max 354.5567, expressed in 1809 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115828 | 28.5547 | 1809 |
| 115829 | 0.5426 | 314 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.79 | gold quality |
| spinal cord | UBERON:0002240 | 94.73 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.46 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.46 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.30 | gold quality |
| cortical plate | UBERON:0005343 | 94.14 | gold quality |
| corpus callosum | UBERON:0002336 | 93.75 | gold quality |
| pons | UBERON:0000988 | 93.73 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.65 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.88 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.86 | gold quality |
| putamen | UBERON:0001874 | 92.57 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.36 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.21 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.20 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.16 | gold quality |
| ventricular zone | UBERON:0003053 | 92.15 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.08 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.00 | gold quality |
| amygdala | UBERON:0001876 | 91.97 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 91.96 | gold quality |
| cerebellum | UBERON:0002037 | 91.95 | gold quality |
| granulocyte | CL:0000094 | 91.87 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.85 | gold quality |
| body of pancreas | UBERON:0001150 | 91.56 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.50 | gold quality |
| rectum | UBERON:0001052 | 91.48 | gold quality |
| apex of heart | UBERON:0002098 | 91.46 | gold quality |
| hypothalamus | UBERON:0001898 | 91.41 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.39 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.59 |
| E-MTAB-7606 | no | 394.22 |
| E-MTAB-6058 | no | 183.55 |
| E-CURD-112 | no | 2.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
10 targeting MRPL48, 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-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-4777-3P | 99.15 | 68.92 | 626 |
| HSA-MIR-892B | 98.00 | 67.11 | 821 |
| HSA-MIR-1225-5P | 96.76 | 66.85 | 417 |
| HSA-MIR-4680-5P | 96.43 | 67.15 | 893 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 15.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- MRPL48 is a novel prognostic and predictive biomarker of hepatocellular carcinoma. (PMID:38093387)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl48 | ENSDARG00000035167 |
| mus_musculus | Mrpl48 | ENSMUSG00000030706 |
| rattus_norvegicus | Mrpl48 | ENSRNOG00000018042 |
| drosophila_melanogaster | mRpL48 | FBGN0031357 |
| caenorhabditis_elegans | WBGENE00016989 |
Protein
Protein identifiers
Large ribosomal subunit protein mL48 — Q96GC5 (reviewed: Q96GC5)
Alternative names: 39S ribosomal protein L48, mitochondrial
All UniProt accessions (10): Q96GC5, A0A140TA24, F5GWB4, F5GZH8, F5H1L2, F5H471, F5H4A2, F5H702, F5H717, F5H8D0
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. mL48 is located at the central protuberance. Interacts with OXA1L.
Subcellular location. Mitochondrion.
Similarity. Belongs to the mitochondrion-specific ribosomal protein mL48 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96GC5-1 | 1 | yes |
| Q96GC5-3 | 2 |
RefSeq proteins (4): NP_001305427, NP_001305428, NP_001305429, NP_057139* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027486 | Ribosomal_uS10_dom | Domain |
| IPR027487 | Ribosomal_mL48 | Family |
| IPR036838 | Ribosomal_uS10_dom_sf | Homologous_superfamily |
Pfam: PF00338
UniProt features (14 total): strand 5, helix 3, transit peptide 1, chain 1, modified residue 1, splice variant 1, sequence variant 1, turn 1
Structure
Experimental structures (PDB)
83 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-Q96GC5-F1 | 76.45 | 0.39 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 199
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: 159 (showing top):
HORIUCHI_WTAP_TARGETS_DN, PAL_PRMT5_TARGETS_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_MITOCHONDRIAL_TRANSLATION, chr11q13, GOBP_TRANSLATION, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, GOCC_MITOCHONDRIAL_ENVELOPE, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, AFP1_Q6, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, AACTGGA_MIR145, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME
GO Biological Process (1): mitochondrial translation (GO:0032543)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), 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 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar ribosome | 1 |
| mitochondrial matrix | 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
1488 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL48 | MRPL51 | Q4U2R6 | 710 |
| MRPL48 | MRPL45 | Q9BRJ2 | 646 |
| MRPL48 | MRPL49 | Q13405 | 618 |
| MRPL48 | MRPL20 | Q9BYC9 | 596 |
| MRPL48 | MRPL4 | Q9BYD3 | 585 |
| MRPL48 | DAP3 | P51398 | 575 |
| MRPL48 | MRPS18B | Q9Y676 | 558 |
| MRPL48 | ELOF1 | P60002 | 547 |
| MRPL48 | MICOS10 | Q5TGZ0 | 543 |
| MRPL48 | MRPL40 | Q9NQ50 | 540 |
| MRPL48 | ERAL1 | O75616 | 536 |
| MRPL48 | PTCD3 | Q96EY7 | 519 |
| MRPL48 | MRPL13 | Q9BYD1 | 505 |
| MRPL48 | MRPS22 | P82650 | 494 |
| MRPL48 | MPV17L2 | Q567V2 | 489 |
IntAct
131 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| IGF2BP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL46 | NDUFAB1 | 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 |
| MRPL46 | MRPL55 | 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 |
| MRPL48 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Papss1 | TCOF1 | psi-mi:“MI:0914”(association) | 0.350 |
| Shoc2 | GABPB1 | psi-mi:“MI:0914”(association) | 0.350 |
| Rpl35 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Kifc5b | KPNA3 | psi-mi:“MI:0914”(association) | 0.350 |
| Cbx1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (204): MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL48 (Co-fractionation), MRPL55 (Co-fractionation), SDHB (Co-fractionation), MRPL48 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS)
ESM2 similar proteins: A6ZPE1, A7TQZ1, B3LJX0, B4JWR9, C4R0B5, C4R8C9, C4XW03, C5DKM2, C5DYE7, C5E3P3, C6Y4D2, C7GNV5, C8ZH56, O13744, O13882, O14006, O60186, O74356, O74464, O94150, P21560, P25642, P36520, P42797, P42847, P53266, Q08774, Q09142, Q09705, Q09759, Q10234, Q10325, Q2YDI5, Q54WP3, Q6BIJ5, Q6BMB3, Q6CJ65, Q6CJB5, Q6FL25, Q6FL71
Diamond homologs: Q2YDI5, Q8JZS9, Q96GC5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL48 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 128 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 | 34 | 45.4× | 5e-47 |
| Mitochondrial translation | 29 | 43.4× | 1e-39 |
| Mitochondrial translation initiation | 31 | 42.8× | 5e-42 |
| Mitochondrial translation elongation | 31 | 42.8× | 5e-42 |
| Mitochondrial translation termination | 31 | 37.0× | 7e-40 |
| Translation | 33 | 22.3× | 1e-34 |
| Peptide chain elongation | 13 | 17.9× | 8e-12 |
| Viral mRNA Translation | 13 | 17.9× | 8e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 35 | 54.3× | 2e-50 |
| mitochondrial large ribosomal subunit assembly | 5 | 44.2× | 7e-06 |
| translation | 30 | 27.5× | 5e-33 |
| cytoplasmic translation | 14 | 23.1× | 2e-13 |
| negative regulation of translation | 11 | 19.2× | 1e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1438 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:73825766:A:T | donor_gain | 1.0000 |
| 11:73844793:T:TA | acceptor_gain | 1.0000 |
| 11:73844802:TTCA:T | acceptor_loss | 1.0000 |
| 11:73844803:TCAGC:T | acceptor_loss | 1.0000 |
| 11:73844804:CAGCC:C | acceptor_loss | 1.0000 |
| 11:73844805:A:AG | acceptor_gain | 1.0000 |
| 11:73844806:G:GA | acceptor_gain | 1.0000 |
| 11:73844806:GC:G | acceptor_gain | 1.0000 |
| 11:73844806:GCC:G | acceptor_gain | 1.0000 |
| 11:73844806:GCCC:G | acceptor_gain | 1.0000 |
| 11:73844806:GCCCA:G | acceptor_gain | 1.0000 |
| 11:73844929:G:GG | donor_gain | 1.0000 |
| 11:73844973:A:T | donor_gain | 1.0000 |
| 11:73844976:GGTA:G | donor_loss | 1.0000 |
| 11:73844977:G:GA | donor_loss | 1.0000 |
| 11:73859905:A:AG | acceptor_gain | 1.0000 |
| 11:73859906:G:GG | acceptor_gain | 1.0000 |
| 11:73864291:CTTAG:C | acceptor_loss | 1.0000 |
| 11:73864294:A:AG | acceptor_gain | 1.0000 |
| 11:73864294:AGCAC:A | acceptor_loss | 1.0000 |
| 11:73864295:G:GA | acceptor_gain | 1.0000 |
| 11:73864295:GC:G | acceptor_gain | 1.0000 |
| 11:73864295:GCA:G | acceptor_gain | 1.0000 |
| 11:73864295:GCAC:G | acceptor_gain | 1.0000 |
| 11:73864295:GCACA:G | acceptor_gain | 1.0000 |
| 11:73823347:G:GT | donor_gain | 0.9900 |
| 11:73825702:TTTTA:T | acceptor_loss | 0.9900 |
| 11:73825703:TTTAG:T | acceptor_loss | 0.9900 |
| 11:73825704:TTAG:T | acceptor_loss | 0.9900 |
| 11:73825705:TAGGT:T | acceptor_loss | 0.9900 |
AlphaMissense
1376 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:73860005:T:A | V157D | 0.984 |
| 11:73859999:G:C | R155P | 0.982 |
| 11:73844945:T:C | C114R | 0.981 |
| 11:73844947:C:G | C114W | 0.968 |
| 11:73844943:T:C | L113P | 0.966 |
| 11:73844975:A:C | S124R | 0.966 |
| 11:73859907:T:A | S124R | 0.966 |
| 11:73859907:T:G | S124R | 0.966 |
| 11:73844934:T:A | V110D | 0.963 |
| 11:73864328:A:C | K199N | 0.963 |
| 11:73864328:A:T | K199N | 0.963 |
| 11:73844889:T:C | L95P | 0.958 |
| 11:73844946:G:A | C114Y | 0.956 |
| 11:73863242:T:A | V182D | 0.954 |
| 11:73864321:G:C | R197P | 0.954 |
| 11:73859912:C:A | A126E | 0.952 |
| 11:73844924:G:C | A107P | 0.951 |
| 11:73844881:T:A | N92K | 0.947 |
| 11:73844881:T:G | N92K | 0.947 |
| 11:73844894:G:C | A97P | 0.947 |
| 11:73860008:A:C | Q158P | 0.946 |
| 11:73863238:G:A | G181R | 0.942 |
| 11:73863238:G:C | G181R | 0.942 |
| 11:73859984:T:C | L150P | 0.938 |
| 11:73844883:T:A | I93N | 0.933 |
| 11:73844895:C:A | A97E | 0.932 |
| 11:73844967:T:A | V121D | 0.927 |
| 11:73863173:T:A | I159N | 0.927 |
| 11:73859992:C:G | H153D | 0.926 |
| 11:73864320:C:G | R197G | 0.926 |
dbSNP variants (sampled 300 via entrez): RS1000063933 (11:73837878 C>T), RS1000064498 (11:73827277 G>A,C), RS1000141840 (11:73787124 T>C), RS1000148895 (11:73853157 A>C,G), RS1000180415 (11:73852873 A>C), RS1000210691 (11:73796857 G>A), RS1000220801 (11:73844677 G>A), RS1000233101 (11:73808163 C>G,T), RS1000242111 (11:73794227 TCTAA>T), RS1000242922 (11:73799490 G>A), RS1000259462 (11:73845963 G>A), RS1000289959 (11:73806421 G>A,T), RS1000322032 (11:73824480 G>T), RS1000331239 (11:73851373 T>TA), RS1000341987 (11:73806170 T>C)
Disease associations
OMIM: gene MIM:611853 | 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 |
|---|---|---|
| GCST001762_405 | Obesity-related traits | 4.000000e-06 |
| GCST005231_56 | Major depressive disorder | 2.000000e-07 |
| GCST005760_4 | Dimensional psychopathology (Cognitive) | 2.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003939 | energy intake |
| EFO:0009098 | cognitive domain measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| bisphenol F | increases expression, affects cotreatment | 1 |
| dicrotophos | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Tretinoin | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| tert-Butylhydroperoxide | 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.