RTRAF
gene geneOn this page
Also known as CGI-99RLLM1CLECLE7LCRP369hCLE1
Summary
RTRAF (RNA transcription, translation and transport factor, HGNC:23169) is a protein-coding gene on chromosome 14q22.1, encoding tRNA-splicing ligase complex subunit RTRAF (Q9Y224). Accessory subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3’,5’-phosphodiester. It is a selective cancer dependency (DepMap: 39.7% of cell lines).
Enables RNA binding activity; RNA polymerase II complex binding activity; and identical protein binding activity. Involved in negative regulation of protein kinase activity; positive regulation of transcription by RNA polymerase II; and tRNA splicing, via endonucleolytic cleavage and ligation. Located in microtubule cytoskeleton; nucleoplasm; and perinuclear region of cytoplasm. Part of tRNA-splicing ligase complex.
Source: NCBI Gene 51637 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 16 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 39.7% of screened cell lines
- MANE Select transcript:
NM_016039
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23169 |
| Approved symbol | RTRAF |
| Name | RNA transcription, translation and transport factor |
| Location | 14q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-99, RLLM1, CLE, CLE7, LCRP369, hCLE1 |
| Ensembl gene | ENSG00000087302 |
| Ensembl biotype | protein_coding |
| OMIM | 610858 |
| Entrez | 51637 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 12 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000261700, ENST00000553362, ENST00000553479, ENST00000553707, ENST00000555319, ENST00000556760, ENST00000557553, ENST00000902518, ENST00000902519, ENST00000902520, ENST00000920645, ENST00000920646, ENST00000920647, ENST00000920648, ENST00000920649, ENST00000942315
RefSeq mRNA: 1 — MANE Select: NM_016039
NM_016039
CCDS: CCDS9705
Canonical transcript exons
ENST00000261700 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000657239 | 51991317 | 51991441 |
| ENSE00000657245 | 52004194 | 52004242 |
| ENSE00000854696 | 51989546 | 51989700 |
| ENSE00001227381 | 51993723 | 51993822 |
| ENSE00001365973 | 52004362 | 52010694 |
| ENSE00003629113 | 51999708 | 51999796 |
| ENSE00003661809 | 52001798 | 52001866 |
| ENSE00003684928 | 51998494 | 51998580 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 247.9264 / max 1457.4527, expressed in 1827 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139598 | 243.2837 | 1827 |
| 139599 | 4.1383 | 1504 |
| 139601 | 0.4930 | 228 |
| 139600 | 0.0113 | 7 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.82 | gold quality |
| oocyte | CL:0000023 | 99.65 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 99.48 | gold quality |
| right testis | UBERON:0004534 | 99.46 | gold quality |
| left testis | UBERON:0004533 | 99.44 | gold quality |
| cartilage tissue | UBERON:0002418 | 99.03 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.02 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.99 | gold quality |
| embryo | UBERON:0000922 | 98.98 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.96 | gold quality |
| adult organism | UBERON:0007023 | 98.93 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.89 | gold quality |
| body of pancreas | UBERON:0001150 | 98.88 | gold quality |
| tibia | UBERON:0000979 | 98.84 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.83 | gold quality |
| cortical plate | UBERON:0005343 | 98.83 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.82 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.82 | gold quality |
| testis | UBERON:0000473 | 98.81 | gold quality |
| lower esophagus | UBERON:0013473 | 98.81 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.74 | gold quality |
| male germ cell | CL:0000015 | 98.73 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.71 | gold quality |
| heart | UBERON:0000948 | 98.70 | gold quality |
| body of stomach | UBERON:0001161 | 98.69 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.69 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.67 | gold quality |
| sperm | CL:0000019 | 98.66 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.66 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.65 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 4.47 |
| E-MTAB-7606 | no | 511.52 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting RTRAF, 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-4504 | 99.10 | 69.14 | 1328 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-3908 | 98.75 | 67.31 | 1160 |
| HSA-MIR-4501 | 98.72 | 67.19 | 921 |
| HSA-MIR-4703-5P | 98.53 | 70.13 | 1645 |
| HSA-MIR-3942-5P | 98.52 | 69.51 | 1517 |
| HSA-MIR-216B-5P | 97.16 | 66.76 | 1126 |
| HSA-MIR-517-5P | 97.13 | 68.43 | 781 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 39.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 13)
- A novel protein CGI-99 is isolated, which may be involved in the functional regulation of human ninein in the centrosome structure and may also be important in brain development and tumorigenesis. (PMID:15147888)
- c14orf166 was identified asa novel metastasis-associated protein, and the roles of radixin, moesin and c14orf166 in pancreatic cancer metastasis deserve further investigations. (PMID:19152423)
- spatial interactions of hnRNPH1, NF45, and C14orf166 with HCVc174 likely modulate HCV or cellular functions during acute and chronic HCV infection (PMID:21823664)
- Silencing of CLE causes reduction of influenza A virus polymerase activity, viral RNA transcription and replication, virus titer, and viral particle production. (PMID:21900157)
- hCLE/C14orf166 associates with DDX1, HSPC117, and FAM98B in a novel transcription-dependent shuttling RNA-transporting complex. (PMID:24608264)
- Overexpression of chromosome 14 open reading frame 166 correlates with disease progression in nasopharyngeal carcinoma. (PMID:25964093)
- C14ORF166 may represent a biomarker of pelvic lymph node metastasis in uterine cervical cancer (PMID:26219895)
- C14orf166, a cellular protein required for viral replication, is incorporated into influenza virus particles. (PMID:26864902)
- C14orf166 could be a novel prognostic biomarker of breast cancer, it also contributes to cell proliferation by regulating G1/S transition. (PMID:26883017)
- C14orf166 promotes bladder cancer cell proliferation and can be a novel prognostic biomarker for patients with bladder cancer. (PMID:26905879)
- the two structural homologs FAM98A and FAM98B included in a novel complex with DDX1 and C14orf166 are required for PRMT1 expression in colorectal cancer cell lines (PMID:28040436)
- Molecular architecture of the human tRNA ligase complex. (PMID:34854379)
- An in silico prediction of interaction models of influenza A virus PA and human C14orf166 protein from yeast-two-hybrid screening data. (PMID:37265372)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rtraf | ENSDARG00000009253 |
| mus_musculus | Rtraf | ENSMUSG00000021807 |
| rattus_norvegicus | Rtraf | ENSRNOG00000000340 |
| drosophila_melanogaster | CG31249 | FBGN0051249 |
| caenorhabditis_elegans | WBGENE00008457 |
Protein
Protein identifiers
tRNA-splicing ligase complex subunit RTRAF — Q9Y224 (reviewed: Q9Y224)
Alternative names: CLE7 homolog, RNA transcription, translation and transport factor protein
All UniProt accessions (5): Q9Y224, G3V4C6, G3V4E7, H0YJB9, Q549M8
UniProt curated annotations — full annotation on UniProt →
Function. Accessory subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3’,5’-phosphodiester. RNA-binding protein involved in modulation of mRNA transcription by Polymerase II. Could also play a role in RNA transport. (Microbial infection) In case of infection by influenza virus A (IVA), is involved in viral replication.
Subunit / interactions. Homodimer. Component of the tRNA-splicing ligase core complex composed of the catalytic subunit RTCB and the accessory proteins DDX1, C2orf49/Ashwin/ASW, FAM98B and RTRAF/CGI-99. Interacts with FAM98A (via N- and C-terminus). Interacts with NIN; which may prevent phosphorylation of NIN. Interacts with POLR2A. (Microbial infection) Interacts with influenza A virus (IAV) RNA polymerase subunits PA, PB1 and PB2, and nucleocapsid NP. Associates with IAV polymerase complexes both in the nucleus and cytosol. Associates with IAV ribonucleoproteins (vRNP) packaged in virions. Interacts with hepatitis C virus core protein p19.
Subcellular location. Nucleus. Cytoplasm. Cytosol. Perinuclear region. Cytoskeleton. Microtubule organizing center. Centrosome Nucleus.
Tissue specificity. Widely expressed. Expressed at high level in heart and skeletal muscle. Expressed at intermediate level in liver, pancreas, fetal brain and fetal lung. Weakly expressed in adult brain, adult lung, placenta, fetal liver and fetal kidney. Overexpressed in many brain tumors.
Induction. (Microbial infection) Up-regulated specifically following influenza A virus (IAV) infection in a viral replication-dependent manner (at protein level).
Similarity. Belongs to the RTRAF family.
RefSeq proteins (1): NP_057123* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019265 | RTRAF | Family |
Pfam: PF10036
UniProt features (11 total): helix 7, modified residue 3, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7P3A | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y224-F1 | 72.09 | 0.00 |
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 (3): 20, 62, 98
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6784531 | tRNA processing in the nucleus |
| R-HSA-72306 | tRNA processing |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 159 (showing top):
YAATNRNNNYNATT_UNKNOWN, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, MODULE_151, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, MARTINEZ_RB1_TARGETS_DN
GO Biological Process (4): tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388), negative regulation of protein kinase activity (GO:0006469), positive regulation of transcription by RNA polymerase II (GO:0045944), RNA transport (GO:0050658)
GO Molecular Function (4): RNA polymerase II complex binding (GO:0000993), RNA binding (GO:0003723), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), perinuclear region of cytoplasm (GO:0048471), tRNA-splicing ligase complex (GO:0072669), mitotic spindle (GO:0072686), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| tRNA processing | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 2 |
| RNA splicing, via endonucleolytic cleavage and ligation | 1 |
| tRNA processing | 1 |
| negative regulation of protein phosphorylation | 1 |
| protein kinase activity | 1 |
| negative regulation of kinase activity | 1 |
| regulation of protein kinase activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| nucleic acid transport | 1 |
| establishment of RNA localization | 1 |
| RNA polymerase core enzyme binding | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| intracellular protein-containing complex | 1 |
| catalytic complex | 1 |
| spindle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1680 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RTRAF | FAM98B | Q52LJ0 | 996 |
| RTRAF | DDX1 | Q92499 | 992 |
| RTRAF | RTCB | Q9Y3I0 | 943 |
| RTRAF | NIN | Q8N4C6 | 907 |
| RTRAF | C2orf49 | Q9BVC5 | 896 |
| RTRAF | RMDN3 | Q96TC7 | 730 |
| RTRAF | FAM98A | Q8NCA5 | 727 |
| RTRAF | POLR2A | P24928 | 620 |
| RTRAF | ZBTB8OS | Q8IWT0 | 580 |
| RTRAF | TAF15 | Q92804 | 495 |
| RTRAF | GSK3B | P49841 | 481 |
| RTRAF | SMU1 | Q2TAY7 | 476 |
| RTRAF | TXNDC16 | Q9P2K2 | 455 |
| RTRAF | ILF2 | Q12905 | 449 |
| RTRAF | LSM12 | Q3MHD2 | 444 |
IntAct
200 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAM98A | RTRAF | psi-mi:“MI:0915”(physical association) | 0.810 |
| RTRAF | FAM98A | psi-mi:“MI:0915”(physical association) | 0.810 |
| RTRAF | RTCB | psi-mi:“MI:0915”(physical association) | 0.750 |
| RTCB | RTRAF | psi-mi:“MI:0915”(physical association) | 0.750 |
| RTRAF | RTRAF | psi-mi:“MI:0915”(physical association) | 0.730 |
| RTRAF | RTRAF | psi-mi:“MI:0407”(direct interaction) | 0.730 |
| RTRAF | DDX1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| DDX1 | FAM98B | psi-mi:“MI:0915”(physical association) | 0.670 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| RTRAF | PA | psi-mi:“MI:0915”(physical association) | 0.580 |
| PA | RTRAF | psi-mi:“MI:0915”(physical association) | 0.580 |
| RTRAF | PA | psi-mi:“MI:0915”(physical association) | 0.570 |
| PA | RTRAF | psi-mi:“MI:0915”(physical association) | 0.570 |
| NIN | RTRAF | psi-mi:“MI:0915”(physical association) | 0.560 |
| RTRAF | NIN | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (306): C14orf166 (Affinity Capture-MS), C14orf166 (Affinity Capture-MS), C14orf166 (Two-hybrid), C14orf166 (Affinity Capture-MS), C14orf166 (Affinity Capture-MS), C14orf166 (Affinity Capture-MS), C14orf166 (Affinity Capture-MS), C14orf166 (Affinity Capture-MS), ACTR3B (Co-fractionation), AHNAK (Co-fractionation), C14orf166 (Co-fractionation), C14orf166 (Co-fractionation), C14orf166 (Co-fractionation), C14orf166 (Co-fractionation), C14orf166 (Co-fractionation)
ESM2 similar proteins: A6H7C9, A7S7F2, A8WVM4, A9UL78, A9UNU6, G5EDM7, G5EG51, H2QII6, O14715, O44740, O54825, O60071, P30641, P31376, P38333, P49792, P51406, Q03280, Q0IHJ3, Q10573, Q13895, Q18508, Q20932, Q21341, Q291E4, Q54IS0, Q5E9N0, Q5R8I2, Q63ZS0, Q6BER5, Q6DFE2, Q6FRS1, Q6FS52, Q7ZUH1, Q80WL2, Q8MYL1, Q8RWS4, Q95Y84, Q96LK0, Q99666
Diamond homologs: Q5R8I2, Q63ZS0, Q7ZUH1, Q9CQE8, Q9Y224
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 174 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| stress granule assembly | 5 | 21.8× | 6e-04 |
| intrinsic apoptotic signaling pathway | 6 | 15.6× | 6e-04 |
| mRNA stabilization | 5 | 13.3× | 5e-03 |
| G1/S transition of mitotic cell cycle | 8 | 11.6× | 1e-04 |
| positive regulation of fibroblast proliferation | 5 | 10.7× | 9e-03 |
| positive regulation of miRNA transcription | 5 | 10.5× | 9e-03 |
| negative regulation of translation | 7 | 9.9× | 1e-03 |
| cytoplasmic translation | 6 | 8.1× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1381 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:51989697:AAAGG:A | donor_loss | 1.0000 |
| 14:51989698:AAGG:A | donor_loss | 1.0000 |
| 14:51989700:GGT:G | donor_loss | 1.0000 |
| 14:51989701:GTGAG:G | donor_loss | 1.0000 |
| 14:51991310:A:AG | acceptor_gain | 1.0000 |
| 14:51991315:A:AG | acceptor_gain | 1.0000 |
| 14:51991315:AGAT:A | acceptor_gain | 1.0000 |
| 14:51991316:G:GC | acceptor_gain | 1.0000 |
| 14:51991316:GA:G | acceptor_gain | 1.0000 |
| 14:51991316:GAT:G | acceptor_gain | 1.0000 |
| 14:51991316:GATG:G | acceptor_gain | 1.0000 |
| 14:51991316:GATGA:G | acceptor_gain | 1.0000 |
| 14:51991442:G:GG | donor_gain | 1.0000 |
| 14:51991442:GTAAT:G | donor_loss | 1.0000 |
| 14:51991443:T:G | donor_loss | 1.0000 |
| 14:51991454:G:GT | donor_gain | 1.0000 |
| 14:51993720:C:G | acceptor_gain | 1.0000 |
| 14:51993721:A:AG | acceptor_gain | 1.0000 |
| 14:51993721:A:G | acceptor_loss | 1.0000 |
| 14:51993722:G:GA | acceptor_gain | 1.0000 |
| 14:51993722:GT:G | acceptor_gain | 1.0000 |
| 14:51993722:GTAT:G | acceptor_gain | 1.0000 |
| 14:51993722:GTATC:G | acceptor_gain | 1.0000 |
| 14:51993819:AATGG:A | donor_loss | 1.0000 |
| 14:51993820:ATGG:A | donor_loss | 1.0000 |
| 14:51993821:TGGTA:T | donor_loss | 1.0000 |
| 14:51993823:G:GA | donor_loss | 1.0000 |
| 14:51993824:TA:T | donor_loss | 1.0000 |
| 14:51998488:TTATA:T | acceptor_loss | 1.0000 |
| 14:51998490:ATAGC:A | acceptor_loss | 1.0000 |
AlphaMissense
1622 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:51991346:T:A | W31R | 1.000 |
| 14:51991346:T:C | W31R | 1.000 |
| 14:51991350:T:C | L32P | 1.000 |
| 14:51991355:G:C | D34H | 1.000 |
| 14:51991356:A:T | D34V | 1.000 |
| 14:51991359:A:C | Q35P | 1.000 |
| 14:51991368:G:C | R38T | 1.000 |
| 14:51991368:G:T | R38M | 1.000 |
| 14:51991369:G:C | R38S | 1.000 |
| 14:51991369:G:T | R38S | 1.000 |
| 14:51991389:G:C | R45T | 1.000 |
| 14:51991389:G:T | R45I | 1.000 |
| 14:51991390:A:C | R45S | 1.000 |
| 14:51991390:A:T | R45S | 1.000 |
| 14:51991401:G:C | R49T | 1.000 |
| 14:51991402:A:C | R49S | 1.000 |
| 14:51991402:A:T | R49S | 1.000 |
| 14:51991421:T:A | W56R | 1.000 |
| 14:51991421:T:C | W56R | 1.000 |
| 14:51993799:T:A | V88D | 1.000 |
| 14:51999746:G:C | A138P | 1.000 |
| 14:52004383:C:A | A201D | 1.000 |
| 14:52004392:T:C | L204P | 1.000 |
| 14:52004416:T:C | L212P | 1.000 |
| 14:52004419:G:C | R213T | 1.000 |
| 14:52004419:G:T | R213I | 1.000 |
| 14:52004420:A:C | R213S | 1.000 |
| 14:52004420:A:T | R213S | 1.000 |
| 14:52004425:T:C | L215P | 1.000 |
| 14:52004429:G:C | Q216H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000041219 (14:51990811 CTTA>C), RS1000056572 (14:51992827 T>C), RS1000173336 (14:52005175 T>G), RS1000213083 (14:52004845 T>C), RS1000237193 (14:51996727 C>A), RS1000329013 (14:52004587 A>G), RS1000550596 (14:52008134 A>G), RS1000581797 (14:52007941 C>G,T), RS1000639427 (14:51998860 G>A), RS1000824771 (14:52003012 A>C), RS1000886833 (14:52010492 A>C), RS1000974984 (14:51987800 C>G), RS1001020704 (14:51992568 A>G), RS1001071194 (14:51994249 A>G), RS1001131920 (14:51994029 C>G)
Disease associations
OMIM: gene MIM:610858 | 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 |
|---|---|---|
| GCST004412_11 | Craniofacial microsomia | 1.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067445 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 3 |
| Cyclosporine | increases expression | 2 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Aminoglutethimide | decreases expression | 1 |
| Arsenic | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Tretinoin | decreases expression | 1 |
| Josamycin | affects response to substance | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652876 | Binding | Binding affinity to human C14orf166 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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): craniofacial microsomia