TOMM34
gene geneOn this page
Also known as TOM34HTOM34P
Summary
TOMM34 (translocase of outer mitochondrial membrane 34, HGNC:15746) is a protein-coding gene on chromosome 20q13.12, encoding Mitochondrial import receptor subunit TOM34 (Q15785). Plays a role in the import of cytosolically synthesized preproteins into mitochondria.
The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats.
Source: NCBI Gene 10953 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 34 total
- Druggable target: yes
- MANE Select transcript:
NM_006809
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15746 |
| Approved symbol | TOMM34 |
| Name | translocase of outer mitochondrial membrane 34 |
| Location | 20q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TOM34, HTOM34P |
| Ensembl gene | ENSG00000025772 |
| Ensembl biotype | protein_coding |
| OMIM | 616049 |
| Entrez | 10953 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000372813, ENST00000879562, ENST00000879563, ENST00000912595, ENST00000912596
RefSeq mRNA: 1 — MANE Select: NM_006809
NM_006809
CCDS: CCDS13340
Canonical transcript exons
ENST00000372813 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000662317 | 44943453 | 44943579 |
| ENSE00000662318 | 44948730 | 44948877 |
| ENSE00000662319 | 44951833 | 44952002 |
| ENSE00000662322 | 44955068 | 44955220 |
| ENSE00000662323 | 44956386 | 44956485 |
| ENSE00000844908 | 44942130 | 44943213 |
| ENSE00000844909 | 44960207 | 44960397 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 98.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.3304 / max 237.3211, expressed in 1813 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187370 | 26.3304 | 1813 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 98.28 | gold quality |
| left testis | UBERON:0004533 | 98.25 | gold quality |
| testis | UBERON:0000473 | 96.87 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.56 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.44 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.09 | gold quality |
| right uterine tube | UBERON:0001302 | 94.61 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.97 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.96 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.85 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.69 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.97 | gold quality |
| putamen | UBERON:0001874 | 92.77 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.64 | gold quality |
| adrenal gland | UBERON:0002369 | 92.35 | gold quality |
| adrenal cortex | UBERON:0001235 | 92.23 | gold quality |
| cingulate cortex | UBERON:0003027 | 91.81 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.78 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.69 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.29 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.08 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.99 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.48 | gold quality |
| Ammon’s horn | UBERON:0001954 | 90.31 | gold quality |
| amygdala | UBERON:0001876 | 90.30 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.88 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.77 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.74 | gold quality |
| telencephalon | UBERON:0001893 | 89.35 | gold quality |
| frontal cortex | UBERON:0001870 | 89.17 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.88 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFE2L2, NRF1
miRNA regulators (miRDB)
49 targeting TOMM34, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
| HSA-MIR-3191-5P | 99.24 | 66.52 | 1722 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-625-5P | 99.02 | 68.64 | 2031 |
Literature-anchored findings (GeneRIF, showing 15)
- Tom34 unlike Tom20 does not interact with the leader sequences of mitochondrial precursor proteins (PMID:11913975)
- Yeast two-hybrid screening identifies binding partners of human Tom34 that have ATPase activity and form a complex with Tom34 in the cytosol (PMID:11913976)
- TOMM34 is involved in the growth of colon cancer cells (PMID:16820880)
- Data show that NRF-1 is the main transcription factor regulating the expression of TOMM34, and that Sp1 interacts with NRF-1 to stimulate the promoter’s full activity. (PMID:18364745)
- Results identify Tom34 as a cochaperone of Hsp70/Hsp90 in mitochondrial protein import. (PMID:22178133)
- TOMM34 expression in early invasive breast cancer: a biomarker associated with poor outcome. (PMID:23053644)
- These results suggest that Tomm34 represents a novel scaffolding co-chaperone of Hsp70 and Hsp90, which may facilitate Hsp70/Hsp90 cooperation during protein folding (PMID:24567332)
- Data show that Tomm34 extensively interacts with the C-terminal structures of Hsp70 selectively in its ATP-bound state and that this interaction is strongly entropically driven. (PMID:26944342)
- Expression of TOMM34 and Its Clinicopathological Correlations in Urothelial Carcinoma of the Bladder. (PMID:30382527)
- TOM34 and its partner HSP90AA1 might be used as a potential biomarker for monitoring HCV-induced hepatocellular carcinoma progression in the Egyptian population. Future large-scale validation studies are warranted. (PMID:30521791)
- Translocase of outer mitochondrial membrane 34 (Tomm34) is commonly expressed at high levels in epithelial ovarian cancers, except for the clear cell and mucinous subtypes. The expression of Tomm34 is positively correlated with FIGO stage. Tomm34 levels also indicates poor prognosis and progression for patients with mutant p53. (PMID:30917858)
- The interaction of the mitochondrial protein importer TOMM34 with HSP70 is regulated by TOMM34 phosphorylation and binding to 14-3-3 adaptors. (PMID:32371396)
- High Expression of Tomm34 and Its Correlations With Clinicopathology in Oral Squamous Cell Carcinoma. (PMID:34257607)
- TOMM34 promotes cell proliferation, migration, and invasion of OSCC and modulates mitochondrial function. (PMID:36367442)
- Role of TOMM34 on NF-kappaB activation-related hyperinflammation in severely ill patients with COVID-19 and influenza. (PMID:39276680)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tomm34 | ENSMUSG00000018322 |
| drosophila_melanogaster | Stip1 | FBGN0024352 |
| drosophila_melanogaster | Sgt | FBGN0032640 |
| drosophila_melanogaster | unc-45 | FBGN0288846 |
| caenorhabditis_elegans | WBGENE00006781 | |
| caenorhabditis_elegans | WBGENE00019983 |
Paralogs (18): RPAP3 (ENSG00000005175), ST13 (ENSG00000100380), STUB1 (ENSG00000103266), SPAG1 (ENSG00000104450), SGTA (ENSG00000104969), TTC1 (ENSG00000113312), TTC31 (ENSG00000115282), UNC45A (ENSG00000140553), UNC45B (ENSG00000141161), SPATA16 (ENSG00000144962), TTC12 (ENSG00000149292), TOMM70 (ENSG00000154174), SUGT1 (ENSG00000165416), STIP1 (ENSG00000168439), TTC32 (ENSG00000183891), SGTB (ENSG00000197860), TTC4 (ENSG00000243725), DNAAF4 (ENSG00000256061)
Protein
Protein identifiers
Mitochondrial import receptor subunit TOM34 — Q15785 (reviewed: Q15785)
Alternative names: Translocase of outer membrane 34 kDa subunit
All UniProt accessions (1): Q15785
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the import of cytosolically synthesized preproteins into mitochondria. Binds the mature portion of precursor proteins. Interacts with cellular components, and possesses weak ATPase activity. May be a chaperone-like protein that helps to keep newly synthesized precursors in an unfolded import compatible state.
Subunit / interactions. Interacts with HSP90A, VCP, ATP6V1D, KIAA0665, AMPK, and DMAP1 through its TPR repeat.
Subcellular location. Cytoplasm. Mitochondrion outer membrane.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the Tom34 family.
RefSeq proteins (1): NP_006800* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR051982 | CiliaryAsmbly_MitoImport | Family |
Pfam: PF00515
UniProt features (18 total): repeat 6, sequence conflict 4, modified residue 3, chain 1, cross-link 1, sequence variant 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15785-F1 | 87.93 | 0.75 |
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 (4): 160, 186, 197, 8
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 155 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GTGCCTT_MIR506, WEI_MYCN_TARGETS_WITH_E_BOX, MODULE_206, GOCC_MITOCHONDRIAL_ENVELOPE, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, DOUGLAS_BMI1_TARGETS_UP, HU_GENOTOXIN_ACTION_DIRECT_VS_INDIRECT_24HR, GOBP_PROTEIN_TARGETING_TO_MITOCHONDRION, MODULE_18, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, MORF_ORC1L, MARSON_BOUND_BY_FOXP3_STIMULATED
GO Biological Process (1): obsolete protein targeting to mitochondrion (GO:0006626)
GO Molecular Function (2): heat shock protein binding (GO:0031072), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), cytosol (GO:0005829), membrane (GO:0016020), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| protein binding | 1 |
| binding | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1901 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TOMM34 | HSP90AA1 | P07900 | 706 |
| TOMM34 | HSP90AB1 | P08238 | 692 |
| TOMM34 | HSPA4 | P34932 | 682 |
| TOMM34 | RNF43 | Q68DV7 | 606 |
| TOMM34 | TOMM40 | O96008 | 516 |
| TOMM34 | TOMM5 | Q8N4H5 | 486 |
| TOMM34 | TIMM17A | Q99595 | 476 |
| TOMM34 | FKBP2 | P26885 | 465 |
| TOMM34 | TIMM17B | O60830 | 464 |
| TOMM34 | TOMM6 | Q96B49 | 462 |
| TOMM34 | YME1L1 | Q96TA2 | 444 |
| TOMM34 | FKBP6 | O75344 | 442 |
| TOMM34 | TOMM22 | Q9NS69 | 440 |
| TOMM34 | TIMM22 | Q9Y584 | 438 |
| TOMM34 | IGF2BP3 | O00425 | 419 |
IntAct
78 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED17 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| HSP90AA1 | CHUK | psi-mi:“MI:0914”(association) | 0.670 |
| SNRNP27 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR21 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| AKIRIN2 | RGPD3 | psi-mi:“MI:0914”(association) | 0.530 |
| COL10A1 | C1QL1 | psi-mi:“MI:0914”(association) | 0.530 |
| USP47 | DENR | psi-mi:“MI:0914”(association) | 0.530 |
| SLC16A11 | H2AB2 | psi-mi:“MI:0914”(association) | 0.530 |
| HSP90AA1 | USP19 | psi-mi:“MI:0914”(association) | 0.530 |
| FUOM | EEF1A2 | psi-mi:“MI:0914”(association) | 0.530 |
| TIMMDC1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| TOMM34 | TINF2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| ATOSB | TOMM34 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TOMM34 | ACTB | psi-mi:“MI:0915”(physical association) | 0.400 |
| TERF1 | TOMM34 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TOMM34 | ACD | psi-mi:“MI:0915”(physical association) | 0.370 |
| TOMM34 | POT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GTF2E2 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF490 | NEMF | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC82 | LY6G6C | psi-mi:“MI:0914”(association) | 0.350 |
| MEPE | FN1 | psi-mi:“MI:0914”(association) | 0.350 |
| FUOM | PRRC2A | psi-mi:“MI:0914”(association) | 0.350 |
| SH3BGRL | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| HSP90AA1 | URI1 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-A | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| PSMD3 | psi-mi:“MI:0914”(association) | 0.350 | |
| SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (149): TOMM34 (Affinity Capture-RNA), TOMM34 (Affinity Capture-RNA), DNAJC7 (Co-fractionation), FUS (Co-fractionation), HNRNPD (Co-fractionation), TARS (Co-fractionation), TOMM34 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS)
ESM2 similar proteins: A0A0P0VG31, A0A2H5Q1B8, A4K2V0, A8XHX1, F1RBN2, O14085, O14217, P19878, P27124, P30416, Q02790, Q06AN9, Q07617, Q13217, Q13451, Q15785, Q20683, Q27968, Q32NU8, Q3KRD5, Q3ZBR5, Q5JNB5, Q5RF88, Q5U2X2, Q5ZI13, Q5ZKQ3, Q64378, Q68FQ7, Q6AZT2, Q6ES52, Q6NU95, Q7XJS0, Q7ZU45, Q80ZX8, Q91YW3, Q91Z38, Q95L05, Q99614, Q9CYG7, Q9D706
Diamond homologs: A4K2V0, A6HD62, A6ZRW3, D7REX8, F1RBN2, F4IRM4, F4JTI1, F4K487, F4KCL7, O13754, O14217, O16259, O35814, O48802, O54981, O94826, O95801, P07213, P23231, P25638, P31948, P33313, P38825, P53041, P53042, Q07617, Q12118, Q13451, Q15785, Q32PZ3, Q3KRD5, Q3ZBR5, Q43207, Q4R8N7, Q5EA11, Q5PPS5, Q5R8D8, Q5RAP0, Q5U2X2, Q5VJS5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 105 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| telomere maintenance via telomerase | 5 | 38.2× | 1e-04 |
| protein folding | 9 | 9.7× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
845 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:44943447:TTTTA:T | donor_loss | 1.0000 |
| 20:44943448:TTTA:T | donor_loss | 1.0000 |
| 20:44943449:TTACC:T | donor_loss | 1.0000 |
| 20:44943450:TA:T | donor_loss | 1.0000 |
| 20:44943452:C:CG | donor_loss | 1.0000 |
| 20:44943575:GTGCT:G | acceptor_gain | 1.0000 |
| 20:44943576:TGCT:T | acceptor_gain | 1.0000 |
| 20:44943578:CT:C | acceptor_gain | 1.0000 |
| 20:44943580:C:CC | acceptor_gain | 1.0000 |
| 20:44943580:C:CG | acceptor_loss | 1.0000 |
| 20:44955063:CTCA:C | donor_loss | 1.0000 |
| 20:44955064:TCA:T | donor_loss | 1.0000 |
| 20:44955066:A:AC | donor_gain | 1.0000 |
| 20:44955067:C:CC | donor_gain | 1.0000 |
| 20:44955067:C:CT | donor_loss | 1.0000 |
| 20:44955219:CT:C | acceptor_gain | 1.0000 |
| 20:44955221:C:CC | acceptor_gain | 1.0000 |
| 20:44956384:A:AC | donor_gain | 1.0000 |
| 20:44956385:C:CT | donor_gain | 1.0000 |
| 20:44956385:CG:C | donor_gain | 1.0000 |
| 20:44956385:CGA:C | donor_gain | 1.0000 |
| 20:44956385:CGAA:C | donor_gain | 1.0000 |
| 20:44960201:TCGTA:T | donor_loss | 1.0000 |
| 20:44960202:CGTA:C | donor_loss | 1.0000 |
| 20:44960203:GTA:G | donor_loss | 1.0000 |
| 20:44960204:TA:T | donor_loss | 1.0000 |
| 20:44960205:ACCTT:A | donor_loss | 1.0000 |
| 20:44960206:C:CT | donor_loss | 1.0000 |
| 20:44943209:TAGTC:T | acceptor_gain | 0.9900 |
| 20:44943211:GTCC:G | acceptor_loss | 0.9900 |
AlphaMissense
2009 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:44943476:C:G | A268P | 0.999 |
| 20:44943478:C:G | R267P | 0.999 |
| 20:44943470:C:G | A270P | 0.998 |
| 20:44943480:T:A | R266S | 0.998 |
| 20:44943480:T:G | R266S | 0.998 |
| 20:44943481:C:G | R266T | 0.998 |
| 20:44943579:T:A | R233S | 0.998 |
| 20:44943579:T:G | R233S | 0.998 |
| 20:44943570:G:C | C236W | 0.997 |
| 20:44948829:C:T | G200D | 0.997 |
| 20:44943179:A:G | L287P | 0.996 |
| 20:44943475:G:T | A268D | 0.996 |
| 20:44943528:G:C | C250W | 0.996 |
| 20:44943530:A:G | C250R | 0.996 |
| 20:44943572:A:G | C236R | 0.996 |
| 20:44943578:C:G | A234P | 0.996 |
| 20:44948781:T:G | Y216S | 0.996 |
| 20:44948782:A:G | Y216H | 0.996 |
| 20:44948830:C:G | G200R | 0.996 |
| 20:44955176:C:G | R91P | 0.996 |
| 20:44943521:C:G | A253P | 0.995 |
| 20:44943571:C:T | C236Y | 0.995 |
| 20:44948771:G:C | S219R | 0.995 |
| 20:44948771:G:T | S219R | 0.995 |
| 20:44948773:T:G | S219R | 0.995 |
| 20:44943199:G:C | S280R | 0.994 |
| 20:44943199:G:T | S280R | 0.994 |
| 20:44943201:T:G | S280R | 0.994 |
| 20:44943517:A:G | L254P | 0.994 |
| 20:44943542:C:G | A246P | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000049628 (20:44959393 A>G), RS1000275661 (20:44952941 G>A,C), RS1000305481 (20:44958326 T>A,C,G), RS1000397922 (20:44945496 G>A), RS1000409621 (20:44945226 A>G), RS1000626382 (20:44953221 G>T), RS1000731425 (20:44947071 T>C), RS1001015223 (20:44954526 G>A,T), RS1001066216 (20:44951966 C>T), RS1001166236 (20:44959958 G>A,C), RS1001197249 (20:44952804 A>G), RS1001298405 (20:44959214 A>G), RS1001317276 (20:44944461 A>G), RS1001906003 (20:44947229 T>C,G), RS1002396670 (20:44945337 C>A)
Disease associations
OMIM: gene MIM:616049 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008103_18 | Bipolar disorder | 1.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066215 (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 |
|---|---|---|---|---|
| 7.66 | Kd | 21.89 | nM | CHEMBL5653589 |
| 7.28 | ED50 | 52.53 | nM | CHEMBL5653589 |
| 5.52 | IC50 | 3000 | nM | CHEMBL5558181 |
| 5.40 | IC50 | 4000 | nM | CHEMBL5558644 |
PubChem BioAssay actives
3 with measured affinity, of 5 total; 3 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 | 2149632: Binding affinity to human TOMM34 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0219 | uM |
| N,N’-bis(3-carbamoyl-4,5-dimethylthiophen-2-yl)pentanediamide | 2084034: Inhibition of GST-tagged human TOM34 expressed in Escherichia coli BL21 (DE3) using NH2-EDASRMEEVD-COOH peptide as substrate preincubated for 15 mins followed by substrate addition measured after 15 mins by Alpha Screen assay | ic50 | 3.0000 | uM |
| methyl 2-[[2-[[5,6-bis(furan-2-yl)-1,2,4-triazin-3-yl]sulfanyl]acetyl]amino]-4,5-dimethylthiophene-3-carboxylate | 2084034: Inhibition of GST-tagged human TOM34 expressed in Escherichia coli BL21 (DE3) using NH2-EDASRMEEVD-COOH peptide as substrate preincubated for 15 mins followed by substrate addition measured after 15 mins by Alpha Screen assay | ic50 | 4.0000 | uM |
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | increases expression | 2 |
| Air Pollutants | increases expression, decreases expression, increases abundance | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| titanium dioxide | decreases expression | 1 |
| methylparaben | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| ochratoxin A | increases expression | 1 |
| ferrous chloride | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Benztropine | decreases expression, affects cotreatment, increases expression | 1 |
| Cannabidiol | decreases expression | 1 |
| Cuprizone | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5524507 | Binding | Inhibition of GST-tagged human TOM34 expressed in Escherichia coli BL21 (DE3) using NH2-EDASRMEEVD-COOH peptide as substrate preincubated for 15 mins followed by substrate addition measured after 15 mins by Alpha Screen assay | Structure-based discovery of small molecule inhibitors of FKBP51-Hsp90 protein-protein interaction. — Eur J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2JA | Abcam HeLa TOMM34 KO | Cancer cell line | Female |
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.