TNRC18
gene geneOn this page
Also known as CAGL79TNRC18AKIAA1856
Summary
TNRC18 (trinucleotide repeat containing 18, HGNC:11962) is a protein-coding gene on chromosome 7p22.1, encoding Trinucleotide repeat-containing gene 18 protein (O15417). Chromatin reader involved in the silencing of endogenous retroviruses (ERV) class-I elements, such as LTR12.
Predicted to enable chromatin binding activity. Located in cytosol; mitochondrion; and nucleus.
Source: NCBI Gene 84629 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 964 total
- MANE Select transcript:
NM_001080495
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11962 |
| Approved symbol | TNRC18 |
| Name | trinucleotide repeat containing 18 |
| Location | 7p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CAGL79, TNRC18A, KIAA1856 |
| Ensembl gene | ENSG00000182095 |
| Ensembl biotype | protein_coding |
| OMIM | 620902 |
| Entrez | 84629 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 retained_intron
ENST00000328270, ENST00000399434, ENST00000399537, ENST00000413081, ENST00000430969, ENST00000434361, ENST00000440081, ENST00000455076, ENST00000464852, ENST00000497663
RefSeq mRNA: 1 — MANE Select: NM_001080495
NM_001080495
CCDS: CCDS47534
Canonical transcript exons
ENST00000430969 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001036207 | 5361594 | 5361722 |
| ENSE00001036210 | 5370375 | 5371364 |
| ENSE00001036212 | 5359398 | 5359569 |
| ENSE00001036218 | 5362650 | 5362825 |
| ENSE00001086226 | 5351819 | 5352094 |
| ENSE00001086228 | 5345562 | 5345810 |
| ENSE00001243325 | 5361897 | 5362033 |
| ENSE00001598260 | 5306811 | 5308312 |
| ENSE00001603408 | 5376034 | 5376224 |
| ENSE00001625690 | 5320532 | 5320607 |
| ENSE00001636763 | 5325096 | 5325248 |
| ENSE00001643372 | 5377922 | 5378024 |
| ENSE00001649243 | 5374055 | 5374484 |
| ENSE00001656592 | 5312503 | 5313863 |
| ENSE00001665613 | 5376847 | 5376993 |
| ENSE00001683886 | 5390485 | 5390628 |
| ENSE00001693361 | 5321073 | 5321190 |
| ENSE00001702441 | 5356916 | 5357276 |
| ENSE00001734273 | 5332622 | 5333049 |
| ENSE00001737063 | 5308875 | 5308949 |
| ENSE00001742050 | 5315956 | 5316072 |
| ENSE00001756091 | 5309132 | 5309368 |
| ENSE00001763886 | 5324214 | 5324355 |
| ENSE00001765397 | 5320318 | 5320426 |
| ENSE00001766309 | 5387672 | 5389336 |
| ENSE00001771332 | 5377371 | 5377576 |
| ENSE00001777465 | 5314984 | 5315148 |
| ENSE00002733281 | 5421060 | 5421489 |
| ENSE00003532211 | 5394440 | 5394595 |
| ENSE00003921945 | 5423441 | 5423834 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 98.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.7869 / max 302.5122, expressed in 1745 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82573 | 8.9470 | 1651 |
| 82570 | 1.8728 | 1031 |
| 82566 | 1.8166 | 735 |
| 82569 | 0.8920 | 483 |
| 82572 | 0.8749 | 440 |
| 82575 | 0.6998 | 388 |
| 82571 | 0.6254 | 321 |
| 82567 | 0.5471 | 339 |
| 82577 | 0.4545 | 237 |
| 82565 | 0.4527 | 119 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 98.15 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.71 | gold quality |
| upper arm skin | UBERON:0004263 | 97.63 | gold quality |
| ventricular zone | UBERON:0003053 | 97.26 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.06 | gold quality |
| kidney epithelium | UBERON:0004819 | 96.73 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.71 | gold quality |
| cortical plate | UBERON:0005343 | 95.54 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 95.46 | gold quality |
| popliteal artery | UBERON:0002250 | 95.40 | gold quality |
| tibial artery | UBERON:0007610 | 95.39 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.35 | silver quality |
| body of uterus | UBERON:0009853 | 95.23 | gold quality |
| superficial temporal artery | UBERON:0001614 | 95.08 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.96 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.93 | gold quality |
| lower esophagus | UBERON:0013473 | 94.90 | gold quality |
| aorta | UBERON:0000947 | 94.84 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.83 | gold quality |
| pylorus | UBERON:0001166 | 94.78 | gold quality |
| right coronary artery | UBERON:0001625 | 94.78 | gold quality |
| saphenous vein | UBERON:0007318 | 94.78 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.72 | gold quality |
| left uterine tube | UBERON:0001303 | 94.67 | gold quality |
| renal medulla | UBERON:0000362 | 94.63 | gold quality |
| cardia of stomach | UBERON:0001162 | 94.60 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.52 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.11 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.08 | gold quality |
| ascending aorta | UBERON:0001496 | 94.05 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.61 |
| E-GEOD-98556 | no | 40.47 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
141 targeting TNRC18, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
Literature-anchored findings (GeneRIF, showing 1)
- Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation. (PMID:32535594)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tnrc18 | ENSDARG00000077052 |
| mus_musculus | Tnrc18 | ENSMUSG00000039477 |
| rattus_norvegicus | Tnrc18 | ENSRNOG00000024482 |
| drosophila_melanogaster | wge | FBGN0051151 |
Paralogs (2): BAHD1 (ENSG00000140320), BAHCC1 (ENSG00000266074)
Protein
Protein identifiers
Trinucleotide repeat-containing gene 18 protein — O15417 (reviewed: O15417)
Alternative names: Long CAG trinucleotide repeat-containing gene 79 protein
All UniProt accessions (8): O15417, A8MTZ4, C9J9K1, H7BXS9, H7C0N9, H7C177, H7C3U5, H9KVB4
UniProt curated annotations — full annotation on UniProt →
Function. Chromatin reader involved in the silencing of endogenous retroviruses (ERV) class-I elements, such as LTR12. Specifically binds histone H3 trimethylated at ‘Lys-9’ (H3K9me3) deposited by SETB1 at class-I ERV and directly mediates recruitment of corepressor complexes, such as Sin3-type and N-Cor complexes, leading to ERV silencing.
Subcellular location. Nucleus. Chromosome.
Domain organisation. The BAH domain specifically binds histone H3 trimethylated at ‘Lys-9’ (H3K9me3).
Miscellaneous. Dubious isoform produced through aberrant splice sites.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15417-1 | 1 | yes |
| O15417-2 | 2 | |
| O15417-4 | 4 |
RefSeq proteins (1): NP_001073964* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001025 | BAH_dom | Domain |
| IPR043151 | BAH_sf | Homologous_superfamily |
| IPR048924 | BAHCC1-like_Tudor | Domain |
| IPR052429 | BAH_domain_protein | Family |
| IPR056841 | TNRC18_BAHCC1-like_SH3 | Domain |
Pfam: PF01426, PF21744, PF24912
UniProt features (104 total): compositionally biased region 38, region of interest 14, strand 10, modified residue 9, mutagenesis site 8, sequence conflict 6, helix 5, splice variant 5, turn 3, coiled-coil region 2, chain 1, domain 1, cross-link 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8DS8 | X-RAY DIFFRACTION | 1.84 |
Predicted structure (AlphaFold)
No AlphaFold model available for O15417 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
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 (10): 263, 611, 1127, 1136, 1540, 1857, 1863, 2146, 2771, 620
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 760 | abolished interactiomn with sin3 (sin3a or sin3b), leading to endogenous retroviruses (erv) derepression. |
| 2837 | abolished ability to bind histone h3 trimethylated at ’lys-9’ (h3k9me3). |
| 2858 | abolished ability to bind histone h3 trimethylated at ’lys-9’ (h3k9me3), leading to endogenous retroviruses (erv) derepr |
| 2860 | abolished ability to bind histone h3 trimethylated at ’lys-9’ (h3k9me3). |
| 2864 | abolished ability to bind histone h3 trimethylated at ’lys-9’ (h3k9me3). |
| 2908 | abolished ability to bind histone h3 trimethylated at ’lys-9’ (h3k9me3). |
| 2910 | abolished ability to bind histone h3 trimethylated at ’lys-9’ (h3k9me3). |
| 2912 | abolished ability to bind histone h3 trimethylated at ’lys-9’ (h3k9me3). |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 190 (showing top):
chr7p22, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_PROTEIN_LOCALIZATION_TO_CHROMATIN, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOCC_NUCLEAR_ENVELOPE, GOMF_CHROMATIN_BINDING, GOCC_NUCLEAR_MEMBRANE, VECCHI_GASTRIC_CANCER_EARLY_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_ORGANELLE_ENVELOPE
GO Biological Process (2): protein localization to chromatin (GO:0071168), transposable element silencing by heterochromatin formation (GO:0141005)
GO Molecular Function (3): chromatin binding (GO:0003682), histone H3K9me2/3 reader activity (GO:0062072), chromatin-protein adaptor activity (GO:0140463)
GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), cytosol (GO:0005829), nuclear membrane (GO:0031965)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| protein localization to chromosome | 1 |
| transposable element silencing | 1 |
| constitutive heterochromatin formation | 1 |
| binding | 1 |
| histone H3 reader activity | 1 |
| chromatin binding | 1 |
| chromatin organization | 1 |
| protein-macromolecule adaptor activity | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
1108 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TNRC18 | MRPL54 | Q6P161 | 474 |
| TNRC18 | OSBPL6 | Q9BZF3 | 461 |
| TNRC18 | NCAPH2 | Q6IBW4 | 455 |
| TNRC18 | DNPEP | Q9ULA0 | 446 |
| TNRC18 | SIN3A | Q96ST3 | 444 |
| TNRC18 | GALNT18 | Q6P9A2 | 442 |
| TNRC18 | SEZ6L | Q9BYH1 | 440 |
| TNRC18 | RMND1 | Q9NWS8 | 372 |
| TNRC18 | FAM193A | P78311 | 359 |
| TNRC18 | SLC66A1 | Q6ZP29 | 358 |
| TNRC18 | ZNF20 | P17024 | 354 |
| TNRC18 | RUNDC3B | Q96NL0 | 354 |
| TNRC18 | MLLT11 | Q13015 | 335 |
| TNRC18 | BTBD18 | B2RXH4 | 331 |
| TNRC18 | GRHL2 | Q6ISB3 | 326 |
IntAct
76 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| RBBP4 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.790 |
| HDAC1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.730 |
| RBBP7 | HAT1 | psi-mi:“MI:0914”(association) | 0.730 |
| SINHCAF | TNRC18 | psi-mi:“MI:0914”(association) | 0.640 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SIN3B | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| PES1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| MDK | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| EDA | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| RBBP4 | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| RBBP7 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| SAP30 | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| DAXX | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (110): TNRC18 (Affinity Capture-MS), TNRC18 (Synthetic Lethality), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS), TNRC18 (Affinity Capture-MS)
ESM2 similar proteins: A1YFU7, A2AJK6, A2BH40, A3RK75, D3YWE6, E9PYL2, E9Q4N7, O00512, O14497, O15417, O35126, O35740, O43365, P02831, P09026, P09027, P14651, P25822, P31249, P48634, P54258, P54259, P78414, P81068, P91613, P91716, P92203, Q06A37, Q08DG7, Q0VCT9, Q10571, Q24248, Q3UHR0, Q5IS70, Q5TM26, Q67FY3, Q7TQ40, Q80WC3, Q8CFT2, Q8NFD5
Diamond homologs: O15417, Q3LHL9, Q80WC3, Q9P281, Q497V6, Q8TBE0, F4JGB7, F4JL28, Q3UHR0, Q9FEN9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 71 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 |
|---|---|---|---|
| HDACs deacetylate histones | 5 | 12.5× | 6e-03 |
| Potential therapeutics for SARS | 5 | 11.9× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of stem cell population maintenance | 8 | 97.3× | 4e-12 |
| positive regulation of stem cell population maintenance | 9 | 49.1× | 4e-11 |
| negative regulation of transforming growth factor beta receptor signaling pathway | 8 | 22.1× | 4e-07 |
| negative regulation of cell migration | 9 | 15.9× | 5e-07 |
| brain development | 7 | 8.8× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
964 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 714 |
| Likely benign | 69 |
| Benign | 113 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5725 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:5308309:CGCG:C | acceptor_gain | 1.0000 |
| 7:5308311:CG:C | acceptor_gain | 1.0000 |
| 7:5308312:GC:G | acceptor_loss | 1.0000 |
| 7:5308313:C:CC | acceptor_gain | 1.0000 |
| 7:5308313:CT:C | acceptor_loss | 1.0000 |
| 7:5308871:CTA:C | donor_loss | 1.0000 |
| 7:5308873:A:AC | donor_gain | 1.0000 |
| 7:5308873:ACC:A | donor_loss | 1.0000 |
| 7:5308873:ACCT:A | donor_gain | 1.0000 |
| 7:5308873:ACCTC:A | donor_gain | 1.0000 |
| 7:5308874:C:CC | donor_gain | 1.0000 |
| 7:5308874:CCT:C | donor_gain | 1.0000 |
| 7:5308874:CCTC:C | donor_gain | 1.0000 |
| 7:5308874:CCTCC:C | donor_gain | 1.0000 |
| 7:5308889:T:TA | donor_gain | 1.0000 |
| 7:5308945:CAGTG:C | acceptor_gain | 1.0000 |
| 7:5308946:AGTG:A | acceptor_gain | 1.0000 |
| 7:5308947:GTG:G | acceptor_gain | 1.0000 |
| 7:5308947:GTGC:G | acceptor_loss | 1.0000 |
| 7:5308948:TG:T | acceptor_gain | 1.0000 |
| 7:5308948:TGC:T | acceptor_loss | 1.0000 |
| 7:5308949:GC:G | acceptor_loss | 1.0000 |
| 7:5308950:C:CC | acceptor_gain | 1.0000 |
| 7:5308951:T:A | acceptor_loss | 1.0000 |
| 7:5308952:G:C | acceptor_gain | 1.0000 |
| 7:5308952:G:GC | acceptor_gain | 1.0000 |
| 7:5308954:G:C | acceptor_gain | 1.0000 |
| 7:5308954:G:GC | acceptor_gain | 1.0000 |
| 7:5309131:CCTGG:C | donor_gain | 1.0000 |
| 7:5309153:G:A | donor_gain | 1.0000 |
AlphaMissense
19029 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:5308250:G:C | C2921W | 1.000 |
| 7:5308252:A:G | C2921R | 1.000 |
| 7:5309183:C:A | W2858C | 1.000 |
| 7:5309183:C:G | W2858C | 1.000 |
| 7:5309185:A:G | W2858R | 1.000 |
| 7:5309185:A:T | W2858R | 1.000 |
| 7:5309190:A:T | V2856D | 1.000 |
| 7:5309196:A:T | V2854D | 1.000 |
| 7:5309222:C:A | W2845C | 1.000 |
| 7:5309222:C:G | W2845C | 1.000 |
| 7:5309224:A:G | W2845R | 1.000 |
| 7:5309224:A:T | W2845R | 1.000 |
| 7:5309241:C:T | G2839D | 1.000 |
| 7:5309242:C:G | G2839R | 1.000 |
| 7:5309274:A:G | L2828P | 1.000 |
| 7:5309276:G:C | F2827L | 1.000 |
| 7:5309276:G:T | F2827L | 1.000 |
| 7:5309277:A:C | F2827C | 1.000 |
| 7:5309277:A:G | F2827S | 1.000 |
| 7:5309278:A:G | F2827L | 1.000 |
| 7:5309283:G:T | A2825D | 1.000 |
| 7:5309322:A:T | I2812N | 1.000 |
| 7:5309326:C:G | A2811P | 1.000 |
| 7:5309332:A:C | Y2809D | 1.000 |
| 7:5309333:G:C | F2808L | 1.000 |
| 7:5309333:G:T | F2808L | 1.000 |
| 7:5309335:A:G | F2808L | 1.000 |
| 7:5312521:C:A | W2790C | 1.000 |
| 7:5312521:C:G | W2790C | 1.000 |
| 7:5312523:A:G | W2790R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000024928 (7:5368894 C>G), RS1000028499 (7:5401649 G>A,C), RS1000031084 (7:5382094 C>A), RS1000047387 (7:5413799 G>A,C), RS1000064178 (7:5408905 G>A,T), RS1000073269 (7:5309553 C>T), RS1000081921 (7:5401868 G>A,T), RS1000116035 (7:5349779 A>C), RS1000122137 (7:5329736 G>A,C,T), RS1000128101 (7:5340007 T>C), RS1000146322 (7:5356473 G>A,C,T), RS1000162905 (7:5339868 C>A,T), RS1000183029 (7:5340790 A>T), RS1000203307 (7:5318914 G>T), RS1000224058 (7:5412174 G>A,C,T)
Disease associations
OMIM: gene MIM:620902 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002183_6 | Relative hand skill in reading disability | 4.000000e-06 |
| GCST006284_14 | Plasma proprotein convertase subtilisin/kexin type 9 levels in stable coronary artery disease | 2.000000e-06 |
| GCST006284_5 | Plasma proprotein convertase subtilisin/kexin type 9 levels in stable coronary artery disease | 7.000000e-09 |
| GCST011741_36 | LDL cholesterol levels in HIV infection | 3.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009902 | handedness |
| EFO:0006899 | PCSK9 protein measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs10234709 | TNRC18 | 0.00 | 0 |
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | increases expression, affects cotreatment | 3 |
| Air Pollutants | decreases expression, increases abundance, affects expression, increases expression, affects cotreatment | 3 |
| Ozone | decreases expression, increases abundance, affects expression, affects cotreatment | 3 |
| sodium arsenite | increases expression | 2 |
| methacrylaldehyde | decreases expression, increases abundance, affects cotreatment | 2 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression, affects methylation | 2 |
| Tetrachlorodibenzodioxin | decreases methylation, increases abundance, affects expression | 2 |
| Tobacco Smoke Pollution | decreases expression, decreases methylation | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| pentanal | decreases expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| tebuconazole | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| MT19c compound | decreases expression | 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.