RO60
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Summary
RO60 (Ro60, Y RNA binding protein, HGNC:11313) is a protein-coding gene on chromosome 1q31.2, encoding RNA-binding protein RO60 (P10155). RNA-binding protein that binds to misfolded non-coding RNAs, pre-5S rRNA, and several small cytoplasmic RNA molecules known as Y RNAs.
Enables RNA binding activity. Involved in cellular response to interferon-alpha and regulation of gene expression. Located in cilium; cytosol; and nuclear body. Part of ribonucleoprotein complex.
Source: NCBI Gene 6738 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 120 total
- Druggable target: yes
- MANE Select transcript:
NM_001173524
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11313 |
| Approved symbol | RO60 |
| Name | Ro60, Y RNA binding protein |
| Location | 1q31.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000116747 |
| Ensembl biotype | protein_coding |
| OMIM | 600063 |
| Entrez | 6738 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 19 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000367441, ENST00000367443, ENST00000367444, ENST00000367445, ENST00000367446, ENST00000400968, ENST00000415442, ENST00000432079, ENST00000460715, ENST00000469214, ENST00000506303, ENST00000512587, ENST00000874665, ENST00000874666, ENST00000874667, ENST00000874668, ENST00000874669, ENST00000874670, ENST00000874671, ENST00000938562, ENST00000948784
RefSeq mRNA: 6 — MANE Select: NM_001173524
NM_001042369, NM_001042370, NM_001173524, NM_001173525, NM_001331020, NM_004600
CCDS: CCDS1379, CCDS41449, CCDS41450, CCDS53451, CCDS86042
Canonical transcript exons
ENST00000400968 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001614938 | 193059612 | 193059776 |
| ENSE00001678331 | 193084579 | 193091219 |
| ENSE00003492139 | 193076501 | 193076647 |
| ENSE00003518607 | 193081364 | 193081480 |
| ENSE00003545812 | 193082186 | 193082299 |
| ENSE00003611020 | 193069034 | 193069634 |
| ENSE00003628009 | 193082562 | 193082708 |
| ENSE00003639502 | 193075820 | 193076040 |
| ENSE00003657335 | 193076913 | 193077050 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.5781 / max 531.7029, expressed in 1822 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 7472 | 37.7833 | 1820 |
| 201855 | 0.9819 | 524 |
| 7469 | 0.6625 | 408 |
| 7473 | 0.1504 | 44 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nipple | UBERON:0002030 | 99.23 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.20 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 99.14 | gold quality |
| inferior olivary complex | UBERON:0002127 | 99.10 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 99.10 | gold quality |
| cranial nerve II | UBERON:0000941 | 99.04 | gold quality |
| sperm | CL:0000019 | 98.98 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.98 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.98 | gold quality |
| renal medulla | UBERON:0000362 | 98.96 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.95 | gold quality |
| urethra | UBERON:0000057 | 98.93 | gold quality |
| visceral pleura | UBERON:0002401 | 98.91 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.89 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 98.82 | gold quality |
| pylorus | UBERON:0001166 | 98.76 | gold quality |
| globus pallidus | UBERON:0001875 | 98.73 | gold quality |
| parietal pleura | UBERON:0002400 | 98.73 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.72 | gold quality |
| saphenous vein | UBERON:0007318 | 98.71 | gold quality |
| pericardium | UBERON:0002407 | 98.68 | gold quality |
| vena cava | UBERON:0004087 | 98.68 | gold quality |
| mammary duct | UBERON:0001765 | 98.64 | gold quality |
| male germ cell | CL:0000015 | 98.63 | gold quality |
| medial globus pallidus | UBERON:0002477 | 98.61 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.56 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 98.56 | gold quality |
| penis | UBERON:0000989 | 98.55 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.55 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.53 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
177 targeting RO60, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| 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-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
Literature-anchored findings (GeneRIF, showing 20)
- In viitro RNA chaperone activity of SSA2 was studied. (PMID:15928345)
- The structural organization and Zn2+-dependent subdomain interactions involving autoiantigenic epitopes in the RBBC region of SS-A were studied. (PMID:15964842)
- Increased Ro/SSA 60 and La/SSB mRNA expression in minor salivary glands in primary Sjogren’s syndrome (pSS) suggest that these 2 autoantigens, but not Ro/SSA 52, are involved in tissue-specific autoimmune response in pSS. (PMID:17552056)
- interactions between Ro-Y5 and L5-5S RNPs establish 5S RNA as a target of quality control (PMID:18056422)
- results demonstrate that Ro 60 functions as a novel receptor for beta(2)GPI on the surface of apoptotic cells. The formation of Ro 60-beta(2)GPI complexes may protect against anti-Ro 60 autoantibody-mediated tissue injury. (PMID:19248095)
- Activation of Toll-like receptors by fetal factor Ro60-associated single-stranded RNA particles is relevant in autoimmune-associated congenital heart block, where the obligate maternal factor is an anti-SSA/Ro autoantibody. (PMID:20089705)
- dichotomy of human autoantibody responses against mutually exclusive determinants linked to a single domain of a systemic autoantigen and supports a model in which tolerance is broken by different immunogenic forms of Ro 60 (PMID:20131295)
- 60 kD Ro and nRNP A frequently initiate human lupus autoimmunity (PMID:20224770)
- conclude that RNPs containing hY RNAs and Ro60, La or nucleolin are not required for the function of hY RNAs in chromosomal DNA replication in a human cell-free system, which can be mediated by Y RNAs outside of these RNPs (PMID:21060685)
- these data indicate that ZBP1 may function as an adapter to export the Ro/Y3 RNA complex from nuclei. (PMID:22114317)
- Findings indicate a relentless turnover of short-lived clonotypic variants, masquerading as long-lived Ro60 humoral autoimmunity. (PMID:23644453)
- The Y3 RNA moiety of the Ro60 ribonucleoprotein plays a critical role in the pathogenesis of fetal cardiac injury by altering the subcellular location of Ro60 autoantibodies. (PMID:23698747)
- TROVE2 is a novel target of miR-128 in astrocytoma tissues and the expression of TROVE2 is increased with the pathological stages increasing. (PMID:26307612)
- These findings establish a link among the lupus autoantigen Ro60, Alu retroelements, and type I interferon. (PMID:26382853)
- Significant relationships were found between clinical and laboratory manifestations of autoimmune and rheumatic diseases with different patterns of antibodies to anti-Ro52, anti-Ro60 and anti-La. (PMID:26725021)
- Because the Ro60 ribonucleoprotein (RNP) is a clinically important target of autoantibodies in patients with rheumatic diseases such as Sjogren’s syndrome, systemic lupus erythematosus, and neonatal lupus, this review discusses potential roles for Ro60 RNPs in the initiation and pathogenesis of systemic autoimmune rheumatic disease. [review] (PMID:31084369)
- strengthens the anti-inflammatory effect via macrophage polarization by estrogen induction in abdominal aortic aneurysm (PMID:31863777)
- Noncoding Y RNAs regulate the levels, subcellular distribution and protein interactions of their Ro60 autoantigen partner. (PMID:32469055)
- Identification of a unique anti-Ro60 subset with restricted serological and molecular profiles. (PMID:32852779)
- IL-33/ST2 Activation Is involved in Ro60-Regulated Photosensitivity in Cutaneous Lupus Erythematosus. (PMID:35909659)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ro60 | ENSDARG00000089225 |
| mus_musculus | Ro60 | ENSMUSG00000018199 |
| rattus_norvegicus | Ro60 | ENSRNOG00000003434 |
| drosophila_melanogaster | CG10803 | FBGN0029666 |
| caenorhabditis_elegans | WBGENE00004405 |
Protein
Protein identifiers
RNA-binding protein RO60 — P10155 (reviewed: P10155)
Alternative names: 60 kDa SS-A/Ro ribonucleoprotein, Ro 60 kDa autoantigen, Sjoegren syndrome antigen A2, Sjoegren syndrome type A antigen, TROVE domain family member 2
All UniProt accessions (5): P10155, D6RDN1, D6RE09, G5E9R9, H0Y9N5
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein that binds to misfolded non-coding RNAs, pre-5S rRNA, and several small cytoplasmic RNA molecules known as Y RNAs. Binds to endogenous Alu retroelements which are induced by type I interferon and stimulate porinflammatory cytokine secretion. Regulates the expression of Alu retroelements as well as inflammatory genes. May play roles in cilia formation and/or maintenance.
Subunit / interactions. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Found in a complex with PUF60 and Y5 RNA. Interacts with RAB11FIP5.
Subcellular location. Cytoplasm.
Domain organisation. The horseshoe-shaped TROVE domain is built with 7 helical HEAT-like repeats, and is closed by the VWFA-like domain giving rise to a ring-shaped monomer. Single-stranded RNA is bound in the positively charged central cavity. The MIDAS-like motif in the VWFA-like domain binds divalent metal cations.
Miscellaneous. Antibodies against normal cellular SSA2 protein are found in sera from patients with systemic lupus erythematosus (SLE).
Similarity. Belongs to the Ro 60 kDa family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P10155-1 | Long | yes |
| P10155-2 | Short, 60E2 | |
| P10155-3 | 3 | |
| P10155-4 | 4 | |
| P10155-5 | 5 |
RefSeq proteins (6): NP_001035828, NP_001035829, NP_001166995, NP_001166996, NP_001317949, NP_004591 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008858 | TROVE_dom | Domain |
| IPR036465 | vWFA_dom_sf | Homologous_superfamily |
| IPR037214 | TROVE_dom_sf | Homologous_superfamily |
| IPR040322 | TROVE2 | Family |
| IPR056800 | vWA_Ro60 | Domain |
Pfam: PF05731, PF25045
UniProt features (19 total): modified residue 5, splice variant 5, binding site 3, sequence conflict 2, region of interest 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P10155-F1 | 93.42 | 0.86 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 378; 380; 445
Post-translational modifications (5): 224, 359, 1, 4, 19
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 214 (showing top):
BROWNE_HCMV_INFECTION_30MIN_DN, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, BROWNE_HCMV_INFECTION_6HR_DN, SWEET_KRAS_ONCOGENIC_SIGNATURE, GOBP_RESPONSE_TO_PEPTIDE, MORF_UBE2N, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, GOBP_RESPONSE_TO_INTERFERON_ALPHA, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, MORF_CCNI, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, BLALOCK_ALZHEIMERS_DISEASE_UP
GO Biological Process (8): immune system development (GO:0002520), transcription by RNA polymerase III (GO:0006383), smoothened signaling pathway (GO:0007224), response to UV (GO:0009411), regulation of gene expression (GO:0010468), cellular response to interferon-alpha (GO:0035457), cilium assembly (GO:0060271), cell projection organization (GO:0030030)
GO Molecular Function (3): RNA binding (GO:0003723), U2 snRNA binding (GO:0030620), metal ion binding (GO:0046872)
GO Cellular Component (7): nucleoplasm (GO:0005654), cytosol (GO:0005829), cilium (GO:0005929), nuclear body (GO:0016604), ribonucleoprotein complex (GO:1990904), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| immune system process | 1 |
| system development | 1 |
| DNA-templated transcription | 1 |
| cell surface receptor signaling pathway | 1 |
| response to light stimulus | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| response to interferon-alpha | 1 |
| cellular response to cytokine stimulus | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| cellular component organization | 1 |
| nucleic acid binding | 1 |
| snRNA binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1018 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RO60 | TRIM21 | P19474 | 998 |
| RO60 | SSB | P05455 | 903 |
| RO60 | CALR | P27797 | 815 |
| RO60 | SNRNP70 | P08621 | 812 |
| RO60 | CENPB | P07199 | 805 |
| RO60 | EXOSC10 | Q01780 | 764 |
| RO60 | APOH | P02749 | 688 |
| RO60 | DNAJB1 | P25685 | 635 |
| RO60 | SNRPN | P14648 | 616 |
| RO60 | HARS2 | P49590 | 596 |
| RO60 | HTN3 | P15516 | 588 |
| RO60 | NUCLEOLIN | P19338 | 584 |
| RO60 | HARS1 | P12081 | 576 |
| RO60 | MORC3 | Q14149 | 571 |
| RO60 | SNRPC | P09234 | 526 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| IGF2BP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| XPO1 | psi-mi:“MI:0914”(association) | 0.530 | |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RO60 | SSB | psi-mi:“MI:0914”(association) | 0.530 |
| ELAVL2 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| SRSF3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| Rrbp1 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| DND1 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| PSMD11 | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| N | FLG | psi-mi:“MI:0914”(association) | 0.350 |
| IFTAP | GNPAT | psi-mi:“MI:0914”(association) | 0.350 |
| SRF | GPC4 | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAPL2 | psi-mi:“MI:0914”(association) | 0.350 | |
| GABARAPL1 | psi-mi:“MI:0914”(association) | 0.350 | |
| GABARAP | psi-mi:“MI:0914”(association) | 0.350 | |
| RAF1 | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (225): TROVE2 (Affinity Capture-RNA), ATL3 (Co-fractionation), SUB1 (Co-fractionation), UQCRQ (Co-fractionation), TROVE2 (Affinity Capture-MS), TROVE2 (Affinity Capture-MS), RNY3 (Protein-RNA), RNY1 (Protein-RNA), TROVE2 (Affinity Capture-MS), TROVE2 (Affinity Capture-MS), TROVE2 (Affinity Capture-MS), TROVE2 (Affinity Capture-MS), TROVE2 (Affinity Capture-MS), TROVE2 (Affinity Capture-MS), TROVE2 (Affinity Capture-MS)
ESM2 similar proteins: A2Z4C5, A7X672, A7X680, B0K012, B8AJL9, B8AR41, B9SQI7, E0CSI1, O08848, O75794, O81770, O82730, P0C0T1, P10155, P42694, P57060, P93115, Q0J035, Q10PL5, Q13572, Q1PET6, Q28559, Q2PG37, Q2R483, Q2YDG3, Q33BI9, Q3U2J5, Q5F477, Q5F480, Q5R9U9, Q62834, Q69QJ7, Q6AY91, Q6DFV5, Q75GI4, Q7SY78, Q80YV4, Q8BYN3, Q8CII2, Q8LB01
Diamond homologs: O08848, P10155, P42700, Q27274, Q9RUW8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 63 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 |
|---|---|---|---|
| MAPK6/MAPK4 signaling | 5 | 14.8× | 2e-03 |
| mRNA Splicing | 5 | 11.9× | 4e-03 |
| mRNA Polyadenylation | 6 | 11.5× | 2e-03 |
| mRNA Splicing - Major Pathway | 8 | 9.5× | 7e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 5 | 8.9× | 8e-03 |
| Dengue Virus-Host Interactions | 8 | 7.9× | 1e-03 |
| Metabolism of RNA | 7 | 6.3× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA splicing, via spliceosome | 6 | 10.0× | 4e-03 |
| RNA splicing | 6 | 9.6× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
120 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 99 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1225 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:193070546:ACC:A | acceptor_gain | 1.0000 |
| 1:193076597:G:GT | donor_gain | 1.0000 |
| 1:193076908:TCTA:T | acceptor_loss | 1.0000 |
| 1:193076909:CTA:C | acceptor_loss | 1.0000 |
| 1:193076910:TA:T | acceptor_loss | 1.0000 |
| 1:193076911:A:AG | acceptor_gain | 1.0000 |
| 1:193076912:G:GG | acceptor_gain | 1.0000 |
| 1:193076912:G:GT | acceptor_loss | 1.0000 |
| 1:193076912:GGCTC:G | acceptor_gain | 1.0000 |
| 1:193081362:A:AC | acceptor_loss | 1.0000 |
| 1:193081362:A:AG | acceptor_gain | 1.0000 |
| 1:193081363:G:GG | acceptor_gain | 1.0000 |
| 1:193081363:G:GT | acceptor_loss | 1.0000 |
| 1:193081363:GA:G | acceptor_gain | 1.0000 |
| 1:193081363:GAC:G | acceptor_gain | 1.0000 |
| 1:193081363:GACA:G | acceptor_gain | 1.0000 |
| 1:193081438:T:TA | donor_gain | 1.0000 |
| 1:193081439:A:AA | donor_gain | 1.0000 |
| 1:193081479:TGG:T | donor_loss | 1.0000 |
| 1:193081480:GGTG:G | donor_loss | 1.0000 |
| 1:193081481:G:GG | donor_gain | 1.0000 |
| 1:193081482:T:A | donor_loss | 1.0000 |
| 1:193082181:TTCA:T | acceptor_loss | 1.0000 |
| 1:193082182:TCA:T | acceptor_loss | 1.0000 |
| 1:193082183:CAG:C | acceptor_loss | 1.0000 |
| 1:193082295:GTCAG:G | donor_gain | 1.0000 |
| 1:193082297:CAGGT:C | donor_loss | 1.0000 |
| 1:193082298:AGGTA:A | donor_loss | 1.0000 |
| 1:193082299:GGT:G | donor_loss | 1.0000 |
| 1:193082300:G:GG | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000020906 (1:193072247 G>A), RS1000031152 (1:193069901 T>C), RS1000245454 (1:193089989 A>G), RS1000794759 (1:193082411 C>T), RS1000834910 (1:193063202 G>A,C,T), RS1001319740 (1:193090591 G>T), RS1001370353 (1:193075408 A>G), RS1001384552 (1:193089313 T>C), RS1001464016 (1:193068874 G>A), RS1001468613 (1:193083987 G>A), RS1001476266 (1:193073640 C>A,T), RS1001605408 (1:193091037 T>A), RS1001749056 (1:193069055 A>G,T), RS1001863576 (1:193070374 G>A), RS1001972939 (1:193078327 G>A,T)
Disease associations
OMIM: gene MIM:600063 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066968 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.69 | Kd | 20.52 | nM | CHEMBL5653589 |
| 7.69 | ED50 | 20.52 | nM | CHEMBL5653589 |
| 5.66 | Kd | 2184 | nM | CHEMBL3752910 |
| 5.66 | ED50 | 2184 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149662: Binding affinity to human TROVE2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0205 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149662: Binding affinity to human TROVE2 incubated for 45 mins by Kinobead based pull down assay | kd | 2.1838 | uM |
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| chloroacetaldehyde | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha-pinene | decreases expression, increases abundance, affects cotreatment | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| 2-butenal | decreases expression | 1 |
| nickel chloride | decreases expression | 1 |
| ferrous chloride | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, 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 | increases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Cidofovir | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases 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 |
|---|---|---|---|
| CHEMBL5652704 | Binding | Binding affinity to human TROVE2 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 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TU83 | HAP1 TROVE2 (-) 1 | Cancer cell line | Male |
| CVCL_TU84 | HAP1 TROVE2 (-) 2 | Cancer cell line | Male |
| CVCL_TU85 | HAP1 TROVE2 (-) 3 | Cancer cell line | Male |
| CVCL_TU86 | HAP1 TROVE2 (-) 4 | Cancer cell line | Male |
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.