TRIM38
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Also known as RORET
Summary
TRIM38 (tripartite motif containing 38, HGNC:10059) is a protein-coding gene on chromosome 6p22.2, encoding E3 ubiquitin-protein ligase TRIM38 (O00635). E3 ubiquitin-protein and E3 SUMO-protein ligase that acts as a regulator of innate immunity.
This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4.
Source: NCBI Gene 10475 — RefSeq curated summary.
At a glance
- GWAS associations: 19
- Clinical variants (ClinVar): 55 total
- MANE Select transcript:
NM_006355
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10059 |
| Approved symbol | TRIM38 |
| Name | tripartite motif containing 38 |
| Location | 6p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RORET |
| Ensembl gene | ENSG00000112343 |
| Ensembl biotype | protein_coding |
| Entrez | 10475 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 13 protein_coding
ENST00000357085, ENST00000859133, ENST00000859134, ENST00000859135, ENST00000859136, ENST00000859137, ENST00000859138, ENST00000859139, ENST00000859140, ENST00000859141, ENST00000934128, ENST00000961974, ENST00000961975
RefSeq mRNA: 1 — MANE Select: NM_006355
NM_006355
CCDS: CCDS4568
Canonical transcript exons
ENST00000357085 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000701524 | 25969325 | 25969420 |
| ENSE00000701617 | 25971869 | 25972099 |
| ENSE00000701675 | 25973054 | 25973076 |
| ENSE00000701768 | 25973173 | 25973285 |
| ENSE00000848412 | 25983164 | 25991231 |
| ENSE00001186600 | 25966335 | 25966933 |
| ENSE00002227650 | 25963049 | 25963282 |
| ENSE00002260222 | 25962802 | 25962855 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 97.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1226 / max 274.0880, expressed in 1754 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66454 | 12.8685 | 1717 |
| 66455 | 3.3630 | 948 |
| 66453 | 1.8604 | 984 |
| 66456 | 0.0307 | 19 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cardia of stomach | UBERON:0001162 | 97.78 | gold quality |
| renal medulla | UBERON:0000362 | 97.52 | gold quality |
| pylorus | UBERON:0001166 | 97.22 | gold quality |
| nipple | UBERON:0002030 | 96.84 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.63 | gold quality |
| superior surface of tongue | UBERON:0007371 | 96.54 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.19 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 96.16 | gold quality |
| vena cava | UBERON:0004087 | 95.82 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.80 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.73 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.68 | gold quality |
| pericardium | UBERON:0002407 | 95.64 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.48 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.27 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.02 | gold quality |
| tongue | UBERON:0001723 | 95.00 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.86 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.72 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.57 | gold quality |
| saphenous vein | UBERON:0007318 | 94.47 | gold quality |
| body of tongue | UBERON:0011876 | 94.45 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 94.41 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 94.40 | gold quality |
| trachea | UBERON:0003126 | 93.80 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 93.75 | gold quality |
| pons | UBERON:0000988 | 93.59 | gold quality |
| urethra | UBERON:0000057 | 93.52 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 93.49 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.36 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.11 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
135 targeting TRIM38, 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-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
Literature-anchored findings (GeneRIF, showing 9)
- Enterovirus 71 infection induces degradation of TRIM38. (PMID:21306652)
- NF-kappaB is activated in response to TRIM38. (PMID:21789858)
- TRIM38 may act as a novel negative regulator for TLR3-mediated type I interferon signaling by targeting TRIF for degradation (PMID:23056470)
- Data suggest that mRNA/protein levels of NLRP6 are down-regulated in synovial tissues and synoviocytes of rheumatoid arthritis (RA) patients compared to osteoarthritis patients; NLRP6 provides docking site to facilitate interaction between TAB2/3 and TRIM38 in RA synoviocytes in response to TNFalpha. (NLRP6 = ; TAB2/3 = transforming growth factor-b-activated kinase 1-binding protein 2/3; TRIM38 = tripartite motif 38) (PMID:28295271)
- TRIM38 triggers the uniquitination and degradation of glucose transporter type 1 (GLUT1) to restrict tumor progression in bladder cancer. (PMID:34906161)
- The antiviral activity of tripartite motif protein 38 in hepatitis B virus replication and gene expression and its association with treatment responses during PEG-IFN-alpha antiviral therapy. (PMID:36623352)
- Tripartite motif 38 alleviates the pathological process of NAFLD-NASH by promoting TAB2 degradation. (PMID:37116711)
- TRIM38 suppresses migration, invasion, metastasis, and proliferation in non-small cell lung cancer (NSCLC) via regulating the AMPK/NF-kappaB/NLRP3 pathway. (PMID:37566200)
- Investigation into the role of the MITA-TRIM38 interaction in regulating pyroptosis and maintaining immune tolerance at the maternal-fetal interface. (PMID:38012139)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Trim38 | ENSMUSG00000064140 |
Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), 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), TRIM63 (ENSG00000158022)
Protein
Protein identifiers
E3 ubiquitin-protein ligase TRIM38 — O00635 (reviewed: O00635)
Alternative names: RING finger protein 15, Tripartite motif-containing protein 38, Zinc finger protein RoRet
All UniProt accessions (1): O00635
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein and E3 SUMO-protein ligase that acts as a regulator of innate immunity. Acts as a negative regulator of type I interferon IFN-beta production by catalyzing ‘Lys-48’-linked polyubiquitination of AZI2/NAP1, leading to its degradation. Mediates ‘Lys-48’-linked polyubiquitination and proteasomal degradation of the critical TLR adapter TICAM1, inhibiting TLR3-mediated type I interferon signaling. Acts as positive regulator of the cGAS-STING pathway by acting as a E3 SUMO-protein ligase: mediates sumoylation of CGAS and STING, preventing their degradation and thereby activating the innate immune response to DNA virus. Also acts as a negative regulator of NF-kappa-B signaling independently of its E3 protein ligase activity by promoting lysosome-dependent degradation of TAB2 and TAB3 adapters.
Subunit / interactions. Interacts (via B30.2/SPRY domain) with TAB2 and TAB3.
Subcellular location. Cytoplasm.
Tissue specificity. Ubiquitous.
Pathway. Protein modification; protein ubiquitination. Protein modification; protein sumoylation.
RefSeq proteins (1): NP_006346* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000315 | Znf_B-box | Domain |
| IPR001841 | Znf_RING | Domain |
| IPR001870 | B30.2/SPRY | Domain |
| IPR003877 | SPRY_dom | Domain |
| IPR003879 | Butyrophylin_SPRY | Domain |
| IPR006574 | PRY | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR035790 | SPRY/PRY_TRIM38 | Domain |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
| IPR050143 | TRIM/RBCC | Family |
Pfam: PF00622, PF00643, PF13765, PF15227
UniProt features (12 total): binding site 4, sequence conflict 2, zinc finger region 2, chain 1, domain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00635-F1 | 87.31 | 0.58 |
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): 93; 96; 115; 121
Post-translational modifications (1): 70
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-877300 | Interferon gamma signaling |
MSigDB gene sets: 214 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, MULLIGHAN_NPM1_SIGNATURE_3_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOZGIT_ESR1_TARGETS_DN, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_VIRAL_GENOME_REPLICATION, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_BIOLOGICAL_PROCESS_INVOLVED_IN_SYMBIOTIC_INTERACTION, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CYTOKINE_PRODUCTION
GO Biological Process (16): regulation of gene expression (GO:0010468), protein sumoylation (GO:0016925), regulation of interferon-beta production (GO:0032648), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), positive regulation of viral genome replication (GO:0045070), innate immune response (GO:0045087), regulation of viral entry into host cell (GO:0046596), positive regulation of viral entry into host cell (GO:0046598), negative regulation of defense response to virus (GO:0050687), protein K48-linked ubiquitination (GO:0070936), immune system process (GO:0002376), protein ubiquitination (GO:0016567), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of viral process (GO:0048524), regulation of viral life cycle (GO:1903900)
GO Molecular Function (6): transcription coactivator activity (GO:0003713), 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 (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Interferon Signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein modification by small protein conjugation | 2 |
| symbiont entry into host cell | 2 |
| regulation of viral process | 2 |
| cellular anatomical structure | 2 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| peptidyl-lysine modification | 1 |
| regulation of type I interferon production | 1 |
| interferon-beta production | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| viral genome replication | 1 |
| regulation of viral genome replication | 1 |
| positive regulation of viral process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| modulation by symbiont of entry into host | 1 |
| regulation of viral life cycle | 1 |
| regulation of viral entry into host cell | 1 |
| positive regulation by symbiont of entry into host | 1 |
| positive regulation of viral life cycle | 1 |
| negative regulation of response to biotic stimulus | 1 |
| negative regulation of defense response | 1 |
| negative regulation of response to external stimulus | 1 |
| regulation of defense response to virus | 1 |
| defense response to virus | 1 |
| protein polyubiquitination | 1 |
| biological_process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| viral process | 1 |
| positive regulation of biological process | 1 |
| viral life cycle | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| transition metal ion binding | 1 |
Protein interactions and networks
STRING
971 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRIM38 | TRIM56 | Q9BRZ2 | 679 |
| TRIM38 | TAB2 | Q9NYJ8 | 678 |
| TRIM38 | TRAT1 | Q6PIZ9 | 625 |
| TRIM38 | CGAS | Q8N884 | 613 |
| TRIM38 | TRIM32 | Q13049 | 552 |
| TRIM38 | ZCCHC3 | Q9NUD5 | 549 |
| TRIM38 | PRY | O14603 | 507 |
| TRIM38 | BBOX1 | O75936 | 479 |
| TRIM38 | TRAF6 | Q9Y4K3 | 473 |
| TRIM38 | TRIM9 | Q9C026 | 467 |
| TRIM38 | IRF3 | Q14653 | 463 |
| TRIM38 | TBK1 | Q9UHD2 | 462 |
| TRIM38 | TRIM23 | P36406 | 460 |
| TRIM38 | USP4 | Q13107 | 460 |
| TRIM38 | TRIM14 | Q14142 | 447 |
| TRIM38 | RIGI | O95786 | 447 |
IntAct
106 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM38 | RFC5 | psi-mi:“MI:0915”(physical association) | 0.830 |
| STXBP1 | TRIM38 | psi-mi:“MI:0915”(physical association) | 0.810 |
| TRIM38 | STXBP1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| TRIM38 | UBE2I | psi-mi:“MI:0915”(physical association) | 0.720 |
| HSPA8 | TRIM38 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GORASP2 | TRIM38 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSPYL4 | TRIM38 | psi-mi:“MI:0915”(physical association) | 0.720 |
| UBE2I | TRIM38 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIM38 | HSPA8 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIM38 | GORASP2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIM38 | TSPYL4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIM38 | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.700 |
BioGRID (88): TRIM38 (Two-hybrid), TRIM38 (Two-hybrid), TRIM38 (Two-hybrid), TRIM38 (Two-hybrid), TRIM38 (Two-hybrid), TRIM38 (Two-hybrid), TRIM38 (Two-hybrid), TRIM38 (Two-hybrid), TSPYL4 (Two-hybrid), GORASP2 (Two-hybrid), GMCL1 (Two-hybrid), AZI2 (Affinity Capture-Western), TRIM38 (Affinity Capture-Western), TRIM38 (Affinity Capture-MS), TRIM38 (Affinity Capture-MS)
ESM2 similar proteins: A0A0E4BZH1, A4QPC6, A7TZE6, A8K4G0, A8MVZ5, O00478, O00481, O00635, O70355, O75677, O75679, P14373, P18892, P19474, P55803, P78410, Q13410, Q1XHU0, Q3ZEE5, Q58DK8, Q5BN31, Q5C8U1, Q5D7H8, Q5D7I0, Q5D7I2, Q5D7I3, Q5D7I5, Q5D7J2, Q5R7W8, Q5R996, Q61885, Q62158, Q62191, Q62556, Q6MFZ5, Q6MG97, Q6UX41, Q6UXE8, Q6UXG8, Q7KYR7
Diamond homologs: A0JN74, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NK02, A6NLI5, B1H278, C9J1S8, K7N6K2, O00635, O15553, O19085, O77666, P0CI25, P0CI26, P14373, P15533, P18892, P19474, Q02084, Q0PF16, Q12899, Q13410, Q1ACD5, Q1ACD6, Q1ACD7, Q1ACD8, Q1XHU0, Q2T9Z0, Q2YEM8, Q2YEM9, Q2YEN0, Q2YEN2, Q3UWZ0, Q3ZEE5, Q495X7, Q587N6, Q587N7, Q58DK8
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | TRIM38 | ubiquitination |
| TRIM38 | “down-regulates quantity by destabilization” | TRIM38 | polyubiquitination |
| TRIM38 | “down-regulates quantity by destabilization” | TRAF6 | polyubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 32 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 |
|---|---|---|---|
| PKR-mediated signaling | 5 | 33.6× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| response to unfolded protein | 5 | 60.2× | 5e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1806 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:25969416:GGAAA:G | donor_gain | 1.0000 |
| 6:25969417:GAAA:G | donor_gain | 1.0000 |
| 6:25969417:GAAAG:G | donor_gain | 1.0000 |
| 6:25969418:A:T | donor_gain | 1.0000 |
| 6:25969421:G:GG | donor_gain | 1.0000 |
| 6:25973161:T:TA | acceptor_gain | 1.0000 |
| 6:25973166:A:AG | acceptor_gain | 1.0000 |
| 6:25973168:TCTA:T | acceptor_loss | 1.0000 |
| 6:25973169:CTA:C | acceptor_loss | 1.0000 |
| 6:25973171:A:AG | acceptor_gain | 1.0000 |
| 6:25973171:AG:A | acceptor_gain | 1.0000 |
| 6:25973172:G:GA | acceptor_gain | 1.0000 |
| 6:25973172:GG:G | acceptor_gain | 1.0000 |
| 6:25973172:GGA:G | acceptor_gain | 1.0000 |
| 6:25973172:GGAGT:G | acceptor_gain | 1.0000 |
| 6:25973284:AGG:A | donor_loss | 1.0000 |
| 6:25973286:G:GA | donor_loss | 1.0000 |
| 6:25973286:G:GG | donor_gain | 1.0000 |
| 6:25973287:T:A | donor_loss | 1.0000 |
| 6:25983162:A:AG | acceptor_gain | 1.0000 |
| 6:25983163:G:GA | acceptor_gain | 1.0000 |
| 6:25983163:GT:G | acceptor_gain | 1.0000 |
| 6:25983163:GTT:G | acceptor_gain | 1.0000 |
| 6:25983163:GTTA:G | acceptor_gain | 1.0000 |
| 6:25983259:G:GT | donor_gain | 1.0000 |
| 6:25983323:G:GT | donor_gain | 1.0000 |
| 6:25962856:G:GG | donor_gain | 0.9900 |
| 6:25963279:CCCGG:C | donor_loss | 0.9900 |
| 6:25963282:GGTAA:G | donor_loss | 0.9900 |
| 6:25963283:G:A | donor_loss | 0.9900 |
AlphaMissense
3078 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:25983277:T:C | F330L | 0.978 |
| 6:25983279:T:A | F330L | 0.978 |
| 6:25983279:T:G | F330L | 0.978 |
| 6:25983364:T:A | W359R | 0.976 |
| 6:25983364:T:C | W359R | 0.976 |
| 6:25983598:T:C | F437L | 0.973 |
| 6:25983600:C:A | F437L | 0.973 |
| 6:25983600:C:G | F437L | 0.973 |
| 6:25983433:T:C | F382L | 0.971 |
| 6:25983435:C:A | F382L | 0.971 |
| 6:25983435:C:G | F382L | 0.971 |
| 6:25966829:T:C | F103L | 0.966 |
| 6:25966831:C:A | F103L | 0.966 |
| 6:25966831:C:G | F103L | 0.966 |
| 6:25966856:T:C | C112R | 0.966 |
| 6:25983374:G:A | G362E | 0.961 |
| 6:25983592:T:C | F435L | 0.961 |
| 6:25983594:T:A | F435L | 0.961 |
| 6:25983594:T:G | F435L | 0.961 |
| 6:25966568:T:C | C16R | 0.959 |
| 6:25983436:T:A | W383R | 0.959 |
| 6:25983436:T:C | W383R | 0.959 |
| 6:25966621:C:A | H33Q | 0.958 |
| 6:25966621:C:G | H33Q | 0.958 |
| 6:25966622:A:C | S34R | 0.958 |
| 6:25966624:C:A | S34R | 0.958 |
| 6:25966624:C:G | S34R | 0.958 |
| 6:25983562:T:C | F425L | 0.957 |
| 6:25983564:T:A | F425L | 0.957 |
| 6:25983564:T:G | F425L | 0.957 |
dbSNP variants (sampled 300 via entrez): RS1000074104 (6:25975760 T>A,C), RS1000334942 (6:25969727 T>G), RS1000367677 (6:25995417 G>A), RS1000386608 (6:25976118 G>A), RS1000449235 (6:25969247 T>C), RS1000479702 (6:25962678 G>A), RS1000611630 (6:25969570 T>C), RS1000647290 (6:25990218 C>A), RS1000940588 (6:25967686 C>T), RS1000962943 (6:25981282 C>T), RS1001168134 (6:25982459 C>T), RS1001213053 (6:25970893 A>G), RS1001224312 (6:25963737 C>T), RS1001306575 (6:25984048 A>G), RS1001351177 (6:25991113 T>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000301_14 | Iron status biomarkers | 4.000000e-06 |
| GCST000960_14 | Cardiac hypertrophy | 2.000000e-07 |
| GCST004521_113 | Autism spectrum disorder or schizophrenia | 3.000000e-19 |
| GCST004521_169 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_69 | Autism spectrum disorder or schizophrenia | 8.000000e-24 |
| GCST004521_83 | Autism spectrum disorder or schizophrenia | 1.000000e-13 |
| GCST004748_55 | Lung cancer | 1.000000e-09 |
| GCST004749_111 | Lung cancer in ever smokers | 6.000000e-08 |
| GCST008163_121 | Height | 7.000000e-06 |
| GCST010002_50 | Refractive error | 4.000000e-34 |
| GCST010142_16 | Fish- and plant-related diet | 2.000000e-10 |
| GCST010142_19 | Fish- and plant-related diet | 4.000000e-10 |
| GCST010142_34 | Fish- and plant-related diet | 7.000000e-09 |
| GCST010142_35 | Fish- and plant-related diet | 8.000000e-09 |
| GCST010142_42 | Fish- and plant-related diet | 1.000000e-08 |
| GCST010142_7 | Fish- and plant-related diet | 3.000000e-12 |
| GCST010702_75 | Subcortical volume (MOSTest) | 3.000000e-11 |
| GCST010703_272 | Brain morphology (MOSTest) | 7.000000e-16 |
| GCST012231_233 | A body shape index | 9.000000e-11 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004461 | iron biomarker measurement |
| EFO:0002503 | cardiac hypertrophy |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — 2.3.2.27 RING-type E3 ubiquitin transferase
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| Aflatoxin B1 | affects expression, increases expression | 4 |
| trichostatin A | increases expression, affects cotreatment | 3 |
| sodium arsenite | affects methylation, increases expression | 3 |
| Cisplatin | decreases expression, increases expression | 3 |
| Tretinoin | increases expression | 3 |
| nickel sulfate | decreases expression, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | increases expression | 2 |
| Calcitriol | increases expression, affects cotreatment | 2 |
| Ethyl Methanesulfonate | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Testosterone | decreases expression, affects cotreatment, increases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| testosterone enanthate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| titanium dioxide | increases methylation | 1 |
| 2-butenal | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1ID | Abcam A-549 TRIM38 KO 1 | Cancer cell line | Male |
| CVCL_B2QX | Abcam A-549 TRIM38 KO 2 | Cancer cell line | Male |
| CVCL_TU17 | HAP1 TRIM38 (-) 1 | Cancer cell line | Male |
| CVCL_TU18 | HAP1 TRIM38 (-) 2 | Cancer cell line | Male |
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): autism spectrum disorder, lung carcinoma