TRIM52
gene geneOn this page
Also known as RNF102
Summary
TRIM52 (tripartite motif containing 52, HGNC:19024) is a protein-coding gene on chromosome 5q35.3, encoding E3 ubiquitin-protein ligase TRIM52 (Q96A61). E3 ubiquitin-protein ligase.
Enables transcription coactivator activity and ubiquitin protein ligase activity. Involved in several processes, including positive regulation of NF-kappaB transcription factor activity; positive regulation of canonical NF-kappaB signal transduction; and protein autoubiquitination. Located in cytosol and nucleus.
Source: NCBI Gene 84851 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 44 total
- MANE Select transcript:
NM_001346048
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19024 |
| Approved symbol | TRIM52 |
| Name | tripartite motif containing 52 |
| Location | 5q35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RNF102 |
| Ensembl gene | ENSG00000183718 |
| Ensembl biotype | protein_coding |
| OMIM | 619265 |
| Entrez | 84851 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000503005, ENST00000510796, ENST00000513146, ENST00000514805, ENST00000611618, ENST00000612671, ENST00000685507, ENST00000686030, ENST00000688015, ENST00000691252, ENST00000880616
RefSeq mRNA: 5 — MANE Select: NM_001346048
NM_001346048, NM_001346049, NM_001346050, NM_001346051, NM_032765
CCDS: CCDS4467, CCDS93843, CCDS93844, CCDS93845, CCDS93846
Canonical transcript exons
ENST00000688015 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003933195 | 181255147 | 181256859 |
| ENSE00003934803 | 181260001 | 181261143 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 91.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5291 / max 186.5970, expressed in 1702 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65377 | 5.2880 | 1520 |
| 65376 | 4.2412 | 1262 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 91.85 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.33 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.25 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.12 | gold quality |
| cerebellum | UBERON:0002037 | 88.71 | gold quality |
| right uterine tube | UBERON:0001302 | 88.54 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.44 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.35 | gold quality |
| granulocyte | CL:0000094 | 88.28 | gold quality |
| pituitary gland | UBERON:0000007 | 88.12 | gold quality |
| adenohypophysis | UBERON:0002196 | 87.98 | gold quality |
| left ovary | UBERON:0002119 | 87.85 | gold quality |
| thyroid gland | UBERON:0002046 | 87.77 | gold quality |
| body of pancreas | UBERON:0001150 | 87.56 | gold quality |
| monocyte | CL:0000576 | 87.08 | gold quality |
| right ovary | UBERON:0002118 | 87.07 | gold quality |
| mononuclear cell | CL:0000842 | 87.04 | gold quality |
| leukocyte | CL:0000738 | 87.02 | gold quality |
| endocervix | UBERON:0000458 | 86.86 | gold quality |
| right coronary artery | UBERON:0001625 | 86.77 | gold quality |
| metanephros cortex | UBERON:0010533 | 86.74 | gold quality |
| popliteal artery | UBERON:0002250 | 86.63 | gold quality |
| tibial artery | UBERON:0007610 | 86.62 | gold quality |
| apex of heart | UBERON:0002098 | 86.58 | gold quality |
| body of uterus | UBERON:0009853 | 86.56 | gold quality |
| tibial nerve | UBERON:0001323 | 86.49 | gold quality |
| lymph node | UBERON:0000029 | 86.14 | gold quality |
| spleen | UBERON:0002106 | 86.11 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.99 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.98 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 217.79 |
| E-ANND-3 | no | 4.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting TRIM52, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-136-5P | 99.50 | 67.26 | 1153 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-6828-5P | 99.31 | 69.21 | 1433 |
| HSA-MIR-1273H-3P | 99.29 | 67.55 | 980 |
| HSA-MIR-491-3P | 98.88 | 68.86 | 1224 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-4726-3P | 98.49 | 63.89 | 1385 |
| HSA-MIR-4446-3P | 97.91 | 64.29 | 991 |
| HSA-MIR-647 | 97.73 | 67.79 | 927 |
| HSA-MIR-6781-3P | 97.44 | 66.85 | 970 |
Literature-anchored findings (GeneRIF, showing 9)
- these data suggested that TRIM52 was a positive regulator of the NF-kappaB pathway. (PMID:28073078)
- TRIM52 can promote cell proliferation and HBx may regulate TRIM52 expression via the NF-kappaB signaling pathway in Hepatitis B Virus-Associated Hepatocellular Carcinoma. (PMID:29089476)
- Our findings suggest that TRIM52 up-regulation promotes proliferation, migration and invasion of HCC cells through the ubiquitination of PPM1A. (PMID:29898761)
- TRIM52 plays an oncogenic role in ovarian cancer development. (PMID:30185771)
- Based on these data, it was speculated that TRIM52 is critical for lung cancer progression and that downregulation of TRIM52 could inhibit cell proliferation by blocking cell cycle progression. (PMID:31002351)
- A repetitive acidic region contributes to the extremely rapid degradation of the cell-context essential protein TRIM52. (PMID:31133683)
- TRIM52 positively mediates NF-kappaB to promote the growth of human benign prostatic hyperplasia cells through affecting TRAF2 ubiquitination. (PMID:32898524)
- Long non-coding RNA TRIM52-AS1 sponges microRNA-577 to facilitate diffuse large B cell lymphoma progression via increasing TRIM52 expression. (PMID:35676608)
- TRIM52 knockdown inhibits proliferation, inflammatory responses and oxidative stress in IL-1beta-induced synovial fibroblasts to alleviate temporomandibular joint osteoarthritis. (PMID:38520211)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:dkey-29p10.4 | ENSDARG00000017173 |
| mus_musculus | Trim52 | ENSMUSG00000022113 |
| rattus_norvegicus | Trim52 | ENSRNOG00000024509 |
Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)
Protein
Protein identifiers
E3 ubiquitin-protein ligase TRIM52 — Q96A61 (reviewed: Q96A61)
Alternative names: RING finger protein 102, Tripartite motif-containing protein 52
All UniProt accessions (7): A0A8I5KQM7, A0A8I5KRY2, A0A8I5KW90, A0A8I5KXP2, A0A8I5KXQ2, A0A8I5KYD8, Q96A61
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase. Positively regulates the NF-kappa-B signaling pathway. (Microbial infection) Exhibits antiviral activity against Japanese encephalitis virus (JEV). Ubiquitinates the viral non-structural protein 2 (NS2A) and targets it for proteasome-mediated degradation.
Subunit / interactions. (Microbial infection) Interacts with Japanese encephalitis virus non-structural protein 2 (NS2A); mediates the ubiquitination of NS2A, targeting it for proteasome-mediated degradation.
Subcellular location. Cytoplasm. Cytosol. Nucleus.
Post-translational modifications. Autoubiquitinated. Polyubiquitinated. Undergoes extremely rapid proteolytic degradation by the proteasome.
Domain organisation. The RING-type zinc finger domain is essential for its E3 ubiquitin-protein ligase activity, ability to positively regulate the NF-kappa-B signaling pathway and its antiviral activity.
Induction. Up-regulated by Golgi stress-inducing agents such nigericin, trichostatin, tetoposide, campothecin and brefeldin A. Up-regulated by IL1B/interleukin-1 beta and TNFA/TNF.
Pathway. Protein modification; protein ubiquitination.
Miscellaneous. Arose via a partial duplication of the TRIM41 gene, followed by independent loss or pseudogenization of TRIM52 in multiple mammalian and primate lineages.
Similarity. Belongs to the TRIM/RBCC family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96A61-1 | 1 | yes |
| Q96A61-2 | 2 |
RefSeq proteins (5): NP_001332977, NP_001332978, NP_001332979, NP_001332980, NP_116154 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000315 | Znf_B-box | Domain |
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR050143 | TRIM/RBCC | Family |
Pfam: PF00643, PF15227
UniProt features (11 total): binding site 4, zinc finger region 2, splice variant 2, chain 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96A61-F1 | 67.44 | 0.23 |
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 (4): 227; 230; 249; 255
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 90 (showing top):
GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_PROTEIN_AUTOUBIQUITINATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_DEFENSE_RESPONSE_TO_VIRUS, BROWNE_HCMV_INFECTION_10HR_UP, GOBP_POSITIVE_REGULATION_OF_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_RESPONSE_TO_VIRUS, GOMF_ACYLTRANSFERASE_ACTIVITY, THUM_SYSTOLIC_HEART_FAILURE_DN, STEIN_ESRRA_TARGETS_UP, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY
GO Biological Process (7): protein ubiquitination (GO:0016567), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), innate immune response (GO:0045087), defense response to virus (GO:0051607), protein autoubiquitination (GO:0051865), positive regulation of signal transduction (GO:0009967), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (5): transcription coactivator activity (GO:0003713), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein modification by small protein conjugation | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| defense response | 1 |
| response to virus | 1 |
| protein ubiquitination | 1 |
| signal transduction | 1 |
| regulation of signal transduction | 1 |
| positive regulation of cell communication | 1 |
| positive regulation of signaling | 1 |
| positive regulation of response to stimulus | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
830 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRIM52 | TRAT1 | Q6PIZ9 | 598 |
| TRIM52 | TRIM14 | Q14142 | 595 |
| TRIM52 | TRIM55 | Q9BYV6 | 507 |
| TRIM52 | TRIM16 | O95361 | 464 |
| TRIM52 | TRIM59 | Q8IWR1 | 463 |
| TRIM52 | TRIM51 | Q9BSJ1 | 459 |
| TRIM52 | TRIM23 | P36406 | 457 |
| TRIM52 | TRIM74 | Q86UV6 | 454 |
| TRIM52 | PRR7 | Q8TB68 | 449 |
| TRIM52 | BBOX1 | O75936 | 447 |
| TRIM52 | TRIM32 | Q13049 | 446 |
| TRIM52 | TRIM54 | Q9BYV2 | 438 |
| TRIM52 | TRIM73 | Q86UV7 | 435 |
| TRIM52 | TRIM56 | Q9BRZ2 | 433 |
| TRIM52 | TRIM77 | I1YAP6 | 421 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM52 | TRIM41 | psi-mi:“MI:0915”(physical association) | 0.550 |
| RNF126 | TRIM52 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRIM52 | RNF114 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRIM52 | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
| gcvPA | TRIM52 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TRIM52 | tktA | psi-mi:“MI:0915”(physical association) | 0.000 |
| RSPH1 | TRIM52 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TRIM52 | UBA1 | psi-mi:“MI:0220”(ubiquitination reaction) | 0.000 |
BioGRID (138): PPM1A (Affinity Capture-Western), TRIM52 (Affinity Capture-Western), TRIM52 (Affinity Capture-MS), TRIM52 (Affinity Capture-Western), PPM1A (Affinity Capture-Western), TOP2A (Affinity Capture-MS), TOP2B (Affinity Capture-MS), OIP5 (Affinity Capture-MS), CCDC88A (Affinity Capture-MS), CEP350 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), MYO5C (Affinity Capture-MS), PLEKHA5 (Affinity Capture-MS), NCAPH2 (Affinity Capture-MS), MYO9A (Affinity Capture-MS)
ESM2 similar proteins: A0A1D5NS60, A0A3B3IT52, A5D7E9, A6NDR6, A6NMN3, A7MBB4, A8T6P4, M0R5D6, M3WHG5, O35668, O93567, O95125, P03127, P0C7M4, P0DPR2, P54256, P54257, P56163, P58283, P70278, Q08D68, Q1HKZ5, Q4V8F1, Q503Y8, Q5DTT4, Q5REX1, Q5XIX0, Q6INH1, Q6P0Q8, Q6ZMN7, Q76I76, Q76N89, Q7TSC3, Q7ZX20, Q811L6, Q86XG9, Q8CFH6, Q8IWB6, Q8K4P8, Q8NHV9
Diamond homologs: A0A3B3IT33, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NLI5, B0BLU1, C9J1S8, I1YAP6, O00478, O00481, O15344, O75677, O75678, O75679, O76064, P0CI25, P0CI26, P18892, P19474, P62603, P86448, P86449, Q13410, Q2HJ46, Q3C1V9, Q3TL54, Q4KLN8, Q5EBN2, Q5PQN2, Q5R4I2, Q5R996, Q61510, Q62556, Q6INS5, Q6MFY8, Q6UX41, Q6UXE8, Q6ZWI9, Q7T308
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | TRIM52 | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
244 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:181260020:T:TA | donor_gain | 1.0000 |
| 5:181255938:A:C | acceptor_gain | 0.9900 |
| 5:181257416:A:AC | donor_gain | 0.9900 |
| 5:181257417:C:CC | donor_gain | 0.9900 |
| 5:181259998:CAC:C | donor_loss | 0.9900 |
| 5:181260015:C:CT | donor_gain | 0.9900 |
| 5:181260016:C:CT | donor_gain | 0.9900 |
| 5:181259999:A:AC | donor_gain | 0.9800 |
| 5:181260000:C:CC | donor_gain | 0.9800 |
| 5:181260008:TCCTG:T | donor_gain | 0.9700 |
| 5:181260009:CCTGC:C | donor_gain | 0.9700 |
| 5:181259705:ACGTC:A | donor_gain | 0.9300 |
| 5:181259706:CGTCC:C | donor_gain | 0.9300 |
| 5:181257412:T:TA | donor_gain | 0.9200 |
| 5:181260014:A:AC | donor_gain | 0.9200 |
| 5:181260000:CCTG:C | donor_gain | 0.8900 |
| 5:181256130:CTT:C | acceptor_gain | 0.8800 |
| 5:181256131:TTT:T | acceptor_gain | 0.8800 |
| 5:181259709:C:A | donor_gain | 0.8700 |
| 5:181259705:A:AC | donor_gain | 0.8600 |
| 5:181259706:C:CC | donor_gain | 0.8600 |
| 5:181259715:CA:C | donor_gain | 0.8600 |
| 5:181260011:TGCAC:T | donor_gain | 0.8500 |
| 5:181257418:T:C | donor_gain | 0.8400 |
| 5:181255934:CAATA:C | acceptor_gain | 0.8300 |
| 5:181259873:T:TG | acceptor_gain | 0.8300 |
| 5:181259705:ACGT:A | donor_gain | 0.8100 |
| 5:181259706:CGTC:C | donor_gain | 0.8100 |
| 5:181256137:A:T | acceptor_gain | 0.7400 |
| 5:181256650:CTT:C | acceptor_gain | 0.7300 |
AlphaMissense
1923 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:181260697:G:C | F39L | 0.999 |
| 5:181260697:G:T | F39L | 0.999 |
| 5:181260699:A:G | F39L | 0.999 |
| 5:181260698:A:G | F39S | 0.997 |
| 5:181260267:A:G | C183R | 0.996 |
| 5:181260698:A:C | F39C | 0.996 |
| 5:181260756:A:G | C20R | 0.996 |
| 5:181260244:A:C | F190L | 0.995 |
| 5:181260244:A:T | F190L | 0.995 |
| 5:181260246:A:G | F190L | 0.995 |
| 5:181260703:G:C | H37Q | 0.995 |
| 5:181260703:G:T | H37Q | 0.995 |
| 5:181260747:A:G | C23R | 0.995 |
| 5:181260103:G:C | F237L | 0.994 |
| 5:181260103:G:T | F237L | 0.994 |
| 5:181260105:A:G | F237L | 0.994 |
| 5:181260265:G:C | C183W | 0.994 |
| 5:181260696:A:G | C40R | 0.994 |
| 5:181260700:G:C | N38K | 0.994 |
| 5:181260700:G:T | N38K | 0.994 |
| 5:181260755:C:G | C20S | 0.994 |
| 5:181260755:C:T | C20Y | 0.994 |
| 5:181260756:A:T | C20S | 0.994 |
| 5:181260078:A:G | C246R | 0.993 |
| 5:181260212:A:G | L201P | 0.993 |
| 5:181260271:G:C | F181L | 0.993 |
| 5:181260271:G:T | F181L | 0.993 |
| 5:181260273:A:G | F181L | 0.993 |
| 5:181260686:C:G | C43S | 0.993 |
| 5:181260687:A:T | C43S | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000112663 (5:181261439 T>C), RS1000258615 (5:181250261 C>G,T), RS1000279735 (5:181251216 C>G,T), RS1000312441 (5:181262176 T>C), RS1000538403 (5:181257476 T>A,C), RS1000597485 (5:181249643 T>TCCAGC), RS1000670105 (5:181262625 G>C), RS1000885399 (5:181256701 T>C), RS1001094762 (5:181250492 C>A,T), RS1001154097 (5:181255510 T>C,G), RS1001280791 (5:181252619 G>T), RS1001399746 (5:181261342 C>T), RS1001434909 (5:181255142 A>C), RS1001670841 (5:181248870 G>A), RS1001699435 (5:181249117 C>T)
Disease associations
OMIM: gene MIM:619265 | 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: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| K 7174 | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Selenium | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TU34 | HAP1 TRIM52 (-) 1 | Cancer cell line | Male |
| CVCL_TU35 | HAP1 TRIM52 (-) 2 | 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.