RNF187
geneOn this page
Also known as RACO1RACO-1
Summary
RNF187 (ring finger protein 187, HGNC:27146) is a protein-coding gene on chromosome 1q42.13, encoding E3 ubiquitin-protein ligase RNF187 (Q5TA31). E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8.
Enables ubiquitin-protein transferase activity. Involved in positive regulation of DNA-templated transcription; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Located in cytosol and nucleoplasm.
Source: NCBI Gene 149603 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 37 total
- MANE Select transcript:
NM_001010858
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27146 |
| Approved symbol | RNF187 |
| Name | ring finger protein 187 |
| Location | 1q42.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RACO1, RACO-1 |
| Ensembl gene | ENSG00000168159 |
| Ensembl biotype | protein_coding |
| OMIM | 613754 |
| Entrez | 149603 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000305943, ENST00000482739
RefSeq mRNA: 1 — MANE Select: NM_001010858
NM_001010858
CCDS: CCDS76271
Canonical transcript exons
ENST00000305943 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001121113 | 228488960 | 228489052 |
| ENSE00001121118 | 228487382 | 228487878 |
| ENSE00003467003 | 228493883 | 228496188 |
| ENSE00003605816 | 228493053 | 228493274 |
Expression profiles
Bgee: expression breadth ubiquitous, 141 present calls, max score 98.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 94.5132 / max 443.5962, expressed in 1827 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8951 | 91.1092 | 1826 |
| 8952 | 1.0264 | 666 |
| 8956 | 0.8341 | 392 |
| 8954 | 0.7630 | 422 |
| 8953 | 0.4477 | 252 |
| 8955 | 0.3326 | 140 |
Top tissues by expression
141 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right frontal lobe | UBERON:0002810 | 98.07 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.00 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.91 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.79 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.79 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.74 | gold quality |
| hypothalamus | UBERON:0001898 | 97.32 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.29 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.22 | gold quality |
| cerebellum | UBERON:0002037 | 97.18 | gold quality |
| temporal lobe | UBERON:0001871 | 97.17 | gold quality |
| putamen | UBERON:0001874 | 97.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.16 | gold quality |
| amygdala | UBERON:0001876 | 97.15 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.15 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.14 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.09 | gold quality |
| Ammon’s horn | UBERON:0001954 | 97.07 | gold quality |
| cortical plate | UBERON:0005343 | 97.06 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.83 | gold quality |
| substantia nigra | UBERON:0002038 | 96.51 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.49 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.44 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.05 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.90 | gold quality |
| embryo | UBERON:0000922 | 95.38 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.38 | gold quality |
| apex of heart | UBERON:0002098 | 95.36 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.25 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.12 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.88 |
| E-CURD-112 | no | 2.88 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
73 targeting RNF187, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
Literature-anchored findings (GeneRIF, showing 8)
- The RACO-1(RING domain AP-1 co-activator-1) is a co-activator that links c-Jun to growth factor signalling and is essential for AP-1 function in proliferation (PMID:20852630)
- Arginine methylation of RACO-1 is required for efficient transcriptional activation by c-Jun/AP-1 and thus identify PRMT1 as an important regulator of c-Jun/AP-1 function. (PMID:23624934)
- elevated RNF187 expression promotes NSCLC development by inducing cell EMT and apoptosis resistance, and RNF187 may be a novel prognostic indicator for NSCLC patients after curative resection (PMID:30624778)
- we identified that RNF187 is an essential factor for Notch1 to promote invasion and metastasis of HCC. Of highly clinical relevance, we found that activation of Notch1-RNF187 correlates with a worse prognosis of HCC patients. (PMID:31477177)
- RING finger protein 187 as a novel potential biomarker for predicting the prognosis of ovarian carcinoma in 2 cancer centers. (PMID:32057463)
- RACO-1 modulates Hippo signalling in oesophageal squamous cell carcinoma. (PMID:32896069)
- Regulation of P53 signaling in breast cancer by the E3 ubiquitin ligase RNF187. (PMID:35165289)
- Immune infiltration is associated with pan-cancer prognostic biomarker RING finger protein 187. (PMID:38167828)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
E3 ubiquitin-protein ligase RNF187 — Q5TA31 (reviewed: Q5TA31)
Alternative names: RING domain AP1 coactivator 1, RING finger protein 187, RING-type E3 ubiquitin transferase RNF187
All UniProt accessions (2): A0A1X7SBW3, Q5TA31
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8.
Subunit / interactions. Homodimer. Interacts with JUN, independently of JUN phosphorylation. Interacts (via C-terminus) with TRIM7.
Subcellular location. Cytoplasm. Nucleus.
Post-translational modifications. Ubiquitinated; undergoes ‘Lys-48’-linked autoubiquitination in the absence of growth factors and MAP3K1-induced ‘Lys-63’-linked polyubiquitination. ‘Lys-48’-autoubiquitination leads to degradation by the proteasome, while MAP3K1-induced ‘Lys-63’-linked polyubiquitination results in the stabilization of the protein. ‘Lys-48’- and ‘Lys-63’-linked polyubiquitinations occur most probably on the same 3 C-terminal lysine residues (Lys-195, Lys-223 and Lys-224) and are thus mutually exclusive. Other sites of ubiquitination are not excluded. ‘Lys-63’-linked polyubiquitination by TRIM7 in response to growth factor signaling via the MEK/ERK pathway enhances protein stability. Arginine methylation by PRMT1 stabilizes RNF187 by facilitating K63-linked ubiquitin chain formation, and enables dimerization, c-Jun interaction and subsequent AP1 target gene expression.
Domain organisation. The RING-type zinc finger domain is required for E3 ligase activity.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (1): NP_001010858* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR050143 | TRIM/RBCC | Family |
Pfam: PF15227
UniProt features (16 total): mutagenesis site 8, cross-link 3, modified residue 2, chain 1, zinc finger region 1, helix 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OW2 | X-RAY DIFFRACTION | 2.17 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5TA31-F1 | 71.63 | 0.28 |
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 (5): 98, 109, 195, 223, 224
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 98 | abolishes ubiquitination by trim7; when associated with k-109. |
| 109 | abolishes ubiquitination by trim7; when associated with k-98. |
| 195 | no detectable effect on ubiquitination. marked decrease in ubiquitination, but no effect on subcellular location; when a |
| 223 | no detectable effect on ubiquitination. marked decrease in ubiquitination, but no effect on subcellular location; when a |
| 224 | no detectable effect on ubiquitination. marked decrease in ubiquitination, but no effect on subcellular location; when a |
| 1 | loss of protein expression. |
| 12 | increased rnf187 stability and reduced polyubiquitination; when associated with a-15. |
| 15 | increased rnf187 stability and reduced polyubiquitination; when associated with a-12. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 141 (showing top):
GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_DN, PATIL_LIVER_CANCER, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, CADWELL_ATG16L1_TARGETS_DN, GOBP_PROTEIN_AUTOUBIQUITINATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_K48_LINKED_UBIQUITINATION, GOBP_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEOLYSIS, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY
GO Biological Process (6): positive regulation of cell population proliferation (GO:0008284), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), positive regulation of DNA-templated transcription (GO:0045893), protein autoubiquitination (GO:0051865), protein K48-linked ubiquitination (GO:0070936), protein ubiquitination (GO:0016567)
GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| protein ubiquitination | 1 |
| protein polyubiquitination | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-like protein transferase activity | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
500 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF187 | MAP2K2 | P36507 | 544 |
| RNF187 | MAP3K1 | Q13233 | 510 |
| RNF187 | ANGEL1 | Q9UNK9 | 491 |
| RNF187 | JUN | P05412 | 475 |
| RNF187 | MAP2K1 | Q02750 | 424 |
| RNF187 | EIF4H | Q15056 | 402 |
| RNF187 | HRAS | P01112 | 383 |
| RNF187 | DCAF4 | Q8WV16 | 353 |
| RNF187 | ELF3 | P78545 | 338 |
| RNF187 | EEIG1 | Q5T9C2 | 332 |
| RNF187 | RAMP3 | O60896 | 328 |
| RNF187 | ZNF213 | O14771 | 325 |
| RNF187 | USP47 | Q96K76 | 323 |
| RNF187 | SHARPIN | Q9H0F6 | 322 |
| RNF187 | RNF157 | Q96PX1 | 317 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TOMM70 | psi-mi:“MI:0914”(association) | 0.980 | |
| CUL2 | VHL | psi-mi:“MI:0914”(association) | 0.940 |
| CUL5 | SOCS7 | psi-mi:“MI:0914”(association) | 0.640 |
| TRIM44 | CUL2 | psi-mi:“MI:0914”(association) | 0.640 |
| RNF187 | ZNF835 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF187 | ZNF417 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM44 | ODAD3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF562 | ISLR | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB42 | MID1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF669 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR83 | SH2B2 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL2 | RNF187 | psi-mi:“MI:0914”(association) | 0.530 |
| EDA | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| LANCL3 | RNF187 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RNF187 | RNF187 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CUL2 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| NEDD8 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| LHX6 | KDM5C | psi-mi:“MI:0914”(association) | 0.350 |
| WDR83 | PIKFYVE | psi-mi:“MI:0914”(association) | 0.350 |
| S100A2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF460 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (107): RNF187 (Affinity Capture-RNA), RNF187 (Affinity Capture-RNA), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Affinity Capture-MS), RNF187 (Two-hybrid)
ESM2 similar proteins: A0JPQ4, B1WC39, D3Z8N2, E1BD59, G3MY25, O15553, O77666, P59044, P62603, Q12899, Q14142, Q1XH17, Q1XH18, Q1XHT8, Q3UWA4, Q499M4, Q53EQ6, Q5NCC3, Q5RBG2, Q5RKG6, Q5TA31, Q5TM52, Q5TM55, Q6MFY8, Q6P9F5, Q6ZMU5, Q7YR31, Q7YR33, Q7YR34, Q86XR2, Q8BFX1, Q8BVW3, Q8C006, Q8C0E3, Q8NG06, Q8WV44, Q8WZA9, Q920M2, Q923T7, Q96IU2
Diamond homologs: A0JPQ4, A6QQX5, D3YY23, D3Z8N2, F6ZQ54, F8S122, O00478, O00481, O60858, O75677, P18892, P82885, P83234, Q13410, Q14258, Q17RB8, Q1XH17, Q1XH18, Q27J48, Q2XXL4, Q32L60, Q503I2, Q5EBN2, Q5M7V1, Q5R846, Q5R996, Q5TA31, Q5ZMD4, Q61510, Q62556, Q640S6, Q6PGR9, Q6QA27, Q6UX41, Q6UXG8, Q6ZMU5, Q7SZN2, Q7T308, Q7TST0, Q810I1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF187 | ubiquitination |
| TRIM7 | “up-regulates quantity by stabilization” | RNF187 | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
37 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
734 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:228488958:A:AG | acceptor_gain | 1.0000 |
| 1:228488958:A:T | acceptor_loss | 1.0000 |
| 1:228488959:G:GG | acceptor_gain | 1.0000 |
| 1:228493049:GCAG:G | acceptor_loss | 1.0000 |
| 1:228493051:A:AG | acceptor_gain | 1.0000 |
| 1:228493051:AG:A | acceptor_gain | 1.0000 |
| 1:228493052:G:GG | acceptor_gain | 1.0000 |
| 1:228493052:GG:G | acceptor_gain | 1.0000 |
| 1:228493270:TGCAG:T | donor_loss | 1.0000 |
| 1:228493272:CAG:C | donor_loss | 1.0000 |
| 1:228493273:AGG:A | donor_loss | 1.0000 |
| 1:228493274:GGTGC:G | donor_loss | 1.0000 |
| 1:228493276:T:A | donor_loss | 1.0000 |
| 1:228487860:G:GT | donor_gain | 0.9900 |
| 1:228488958:AG:A | acceptor_gain | 0.9900 |
| 1:228488959:GG:G | acceptor_gain | 0.9900 |
| 1:228488959:GGA:G | acceptor_gain | 0.9900 |
| 1:228488959:GGAGA:G | acceptor_gain | 0.9900 |
| 1:228489027:C:T | donor_gain | 0.9900 |
| 1:228489049:G:GT | donor_gain | 0.9900 |
| 1:228489049:GAAGG:G | donor_loss | 0.9900 |
| 1:228489050:AAGGC:A | donor_loss | 0.9900 |
| 1:228489051:AGGCA:A | donor_loss | 0.9900 |
| 1:228489052:GGCA:G | donor_loss | 0.9900 |
| 1:228489054:CAAG:C | donor_loss | 0.9900 |
| 1:228493041:A:AG | acceptor_gain | 0.9900 |
| 1:228493041:ACCC:A | acceptor_gain | 0.9900 |
| 1:228493044:C:A | acceptor_gain | 0.9900 |
| 1:228493048:T:A | acceptor_gain | 0.9900 |
| 1:228493051:AGG:A | acceptor_gain | 0.9900 |
AlphaMissense
1518 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:228489005:G:C | A146P | 0.996 |
| 1:228493102:T:C | L178P | 0.996 |
| 1:228487633:T:C | C49R | 0.994 |
| 1:228487568:G:A | C27Y | 0.992 |
| 1:228487579:T:C | F31L | 0.992 |
| 1:228487581:C:A | F31L | 0.992 |
| 1:228487581:C:G | F31L | 0.992 |
| 1:228487592:G:A | C35Y | 0.992 |
| 1:228489015:T:C | L149P | 0.992 |
| 1:228489026:G:C | A153P | 0.992 |
| 1:228487634:G:A | C49Y | 0.990 |
| 1:228487635:C:G | C49W | 0.990 |
| 1:228493114:T:C | F182S | 0.990 |
| 1:228493069:G:C | R167P | 0.989 |
| 1:228493092:T:G | Y175D | 0.989 |
| 1:228487583:G:A | C32Y | 0.988 |
| 1:228487593:C:G | C35W | 0.988 |
| 1:228487569:C:G | C27W | 0.987 |
| 1:228487580:T:C | F31S | 0.987 |
| 1:228487582:T:C | C32R | 0.987 |
| 1:228489006:C:A | A146D | 0.987 |
| 1:228493073:G:C | R168S | 0.987 |
| 1:228493073:G:T | R168S | 0.987 |
| 1:228493231:T:C | L221P | 0.987 |
| 1:228489009:G:C | R147P | 0.986 |
| 1:228489047:T:A | W160R | 0.986 |
| 1:228489047:T:C | W160R | 0.986 |
| 1:228489049:G:C | W160C | 0.986 |
| 1:228489049:G:T | W160C | 0.986 |
| 1:228487591:T:C | C35R | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1002105591 (1:228486868 C>A,T), RS1003075801 (1:228485977 G>A), RS1004283621 (1:228485760 T>C,G), RS1004717393 (1:228485424 T>C), RS1005727431 (1:228486632 C>A), RS1006110424 (1:228486411 G>C), RS1006476921 (1:228487495 C>G,T), RS1008199328 (1:228487572 C>G,T), RS1008315297 (1:228493121 G>A,T), RS1008663824 (1:228486630 G>A,T), RS1009047422 (1:228486819 G>T), RS1009911191 (1:228487337 C>A,T), RS1010501417 (1:228486284 G>T), RS1012237162 (1:228486043 G>T), RS1012374398 (1:228485795 T>C)
Disease associations
OMIM: gene MIM:613754 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002198_8 | Tuberculosis | 2.000000e-07 |
| GCST009246_130 | Cerebrospinal fluid sTREM-2 levels | 4.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010151 | soluble triggering receptor expressed on myeloid cells 2 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 4 |
| Cyclosporine | increases expression | 2 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide | decreases stability | 1 |
| Ro 31-8220 | decreases reaction, decreases stability | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| benzyloxycarbonylleucyl-leucyl-leucine aldehyde | decreases reaction, decreases stability | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| U 0126 | decreases stability | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cadmium | increases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Silicon Dioxide | decreases methylation | 1 |
| Smoke | decreases expression | 1 |
| Tetradecanoylphorbol Acetate | decreases reaction, increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | 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): tuberculosis