TMOD3
gene geneOn this page
Also known as UTMOD
Summary
TMOD3 (tropomodulin 3, HGNC:11873) is a protein-coding gene on chromosome 15q21.2, encoding Tropomodulin-3 (Q9NYL9). Blocks the elongation and depolymerization of the actin filaments at the pointed end.
Enables cadherin binding activity involved in cell-cell adhesion. Predicted to be involved in actin filament organization; muscle contraction; and myofibril assembly. Predicted to act upstream of or within actin cytoskeleton organization; erythrocyte development; and positive regulation of mitotic cell cycle phase transition. Located in adherens junction.
Source: NCBI Gene 29766 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 60 total
- MANE Select transcript:
NM_014547
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11873 |
| Approved symbol | TMOD3 |
| Name | tropomodulin 3 |
| Location | 15q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UTMOD |
| Ensembl gene | ENSG00000138594 |
| Ensembl biotype | protein_coding |
| OMIM | 605112 |
| Entrez | 29766 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 12 protein_coding, 7 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000308580, ENST00000558300, ENST00000558455, ENST00000558666, ENST00000558714, ENST00000559202, ENST00000560549, ENST00000560725, ENST00000561136, ENST00000561408, ENST00000561438, ENST00000871168, ENST00000871169, ENST00000871170, ENST00000871171, ENST00000871172, ENST00000871173, ENST00000871174, ENST00000924675, ENST00000924676, ENST00000961498
RefSeq mRNA: 1 — MANE Select: NM_014547
NM_014547
CCDS: CCDS10145
Canonical transcript exons
ENST00000308580 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000931404 | 51869217 | 51869373 |
| ENSE00001102821 | 51893815 | 51893945 |
| ENSE00001170748 | 51862811 | 51863010 |
| ENSE00001243138 | 51908776 | 51915725 |
| ENSE00001637299 | 51896419 | 51896526 |
| ENSE00001654862 | 51900155 | 51900298 |
| ENSE00002540197 | 51829653 | 51829836 |
| ENSE00003479780 | 51901892 | 51902036 |
| ENSE00003649448 | 51889056 | 51889145 |
| ENSE00003676764 | 51887589 | 51887711 |
Expression profiles
Bgee: expression breadth ubiquitous, 268 present calls, max score 97.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.0555 / max 642.6341, expressed in 1819 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146683 | 42.2696 | 1817 |
| 146684 | 3.1800 | 1347 |
| 146682 | 2.4564 | 1342 |
| 146690 | 0.3872 | 136 |
| 146685 | 0.3428 | 143 |
| 146691 | 0.1869 | 54 |
| 146696 | 0.1134 | 44 |
| 146695 | 0.0939 | 37 |
| 146686 | 0.0252 | 4 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| amniotic fluid | UBERON:0000173 | 97.62 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.60 | gold quality |
| oral cavity | UBERON:0000167 | 96.21 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.76 | gold quality |
| gingiva | UBERON:0001828 | 95.03 | gold quality |
| lower lobe of lung | UBERON:0008949 | 94.95 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.76 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.63 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.23 | gold quality |
| skin of hip | UBERON:0001554 | 93.65 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.34 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 93.13 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.77 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 92.60 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.45 | gold quality |
| penis | UBERON:0000989 | 92.41 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.92 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.51 | gold quality |
| tonsil | UBERON:0002372 | 91.15 | gold quality |
| tendon | UBERON:0000043 | 91.10 | gold quality |
| sperm | CL:0000019 | 91.08 | gold quality |
| visceral pleura | UBERON:0002401 | 90.34 | gold quality |
| monocyte | CL:0000576 | 90.10 | gold quality |
| upper leg skin | UBERON:0004262 | 90.07 | gold quality |
| jejunal mucosa | UBERON:0000399 | 89.85 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.57 | gold quality |
| mononuclear cell | CL:0000842 | 89.36 | gold quality |
| leukocyte | CL:0000738 | 89.26 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.08 | gold quality |
| parietal pleura | UBERON:0002400 | 89.05 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 13.29 |
| E-GEOD-130148 | yes | 5.75 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
170 targeting TMOD3, 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-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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
Literature-anchored findings (GeneRIF, showing 10)
- capping of actin filament pointed ends by Tmod3 inhibits cell migration and reveal a novel control mechanism for regulation of actin filaments in lamellipodia. (PMID:12707310)
- levels of TM1, TM2 and TM3 are reduced in human transitional cell carcinoma cells, but significantly upregulated by inhibition of the mitogen-activated protein kinase-signaling pathway (PMID:15095301)
- the Tmod3 isoform may regulate actin dynamics differently in cells than the previously described tropomodulin isoforms (PMID:17012745)
- findings show that the pointed-end capping protein Tmod3 contributes to epithelial cell shape within confluent monolayers of polarized epithelial cells (PMID:17928307)
- investigation of biomarkers for early diagnosis of endometriosis: Data suggest that TMOD3, tropomyosin 3, and stomatin-like protein 2 are autoantigens present in blood of women with endometriosis; immunodominant epitopes were identified. (PMID:22158085)
- study has identified several new proteins like RHOC, DLG5, UGDH, TMOD3 in addition to known chemoresistance associated proteins in non-small cell lung carcinoma. (PMID:26898345)
- TMOD3 expression was found to be elevated in liver cancer cells and tissues. In the in vitro experiments, liver cancer cell proliferation, invasion and migration were inhibited by TMOD3 knockdown and promoted by ectopic expression of TMOD3. TMOD3 overexpression activated MAPK/ERK signaling and increased the levels of other targets of this pathway. (PMID:30864730)
- These findings reveal that Tmod3 enhances aggressive behavior of hepatocellular carcinoma (HCC) both in vitro and in vivo by interacting with EFGR and by activating the PI3K-AKT signaling pathway. (PMID:31313392)
- Tropomodulins Control the Balance between Protrusive and Contractile Structures by Stabilizing Actin-Tropomyosin Filaments. (PMID:32037094)
- Clinicopathological Characteristics, Prognosis, and Correlated Tumor Cell Function of Tropomodulin-3 in Pancreatic Adenocarcinoma. (PMID:37563820)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmod2 | ENSDARG00000002571 |
| mus_musculus | Tmod3 | ENSMUSG00000058587 |
| rattus_norvegicus | Tmod3 | ENSRNOG00000032436 |
| drosophila_melanogaster | tmod | FBGN0082582 |
| caenorhabditis_elegans | unc-94 | WBGENE00006823 |
Paralogs (6): TMOD2 (ENSG00000128872), TMOD1 (ENSG00000136842), TMOD4 (ENSG00000163157), LMOD3 (ENSG00000163380), LMOD1 (ENSG00000163431), LMOD2 (ENSG00000170807)
Protein
Protein identifiers
Tropomodulin-3 — Q9NYL9 (reviewed: Q9NYL9)
Alternative names: Ubiquitous tropomodulin
All UniProt accessions (4): Q9NYL9, H0YKU1, H0YNJ8, H0YNU8
UniProt curated annotations — full annotation on UniProt →
Function. Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton.
Subunit / interactions. Binds to the N-terminus of tropomyosin and to actin. Interacts with FLII.
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the tropomodulin family.
RefSeq proteins (1): NP_055362* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004934 | TMOD | Family |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
Pfam: PF03250
UniProt features (3 total): chain 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NYL9-F1 | 82.10 | 0.48 |
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 (1): 25
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-390522 | Striated Muscle Contraction |
| R-HSA-9013418 | RHOBTB2 GTPase cycle |
| R-HSA-9696264 | RND3 GTPase cycle |
MSigDB gene sets: 289 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, RRAGTTGT_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_MYELOID_CELL_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, AP4_Q6, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS
GO Biological Process (9): muscle contraction (GO:0006936), actin filament organization (GO:0007015), myofibril assembly (GO:0030239), mitotic cell cycle phase transition (GO:0044772), erythrocyte development (GO:0048821), pointed-end actin filament capping (GO:0051694), positive regulation of mitotic cell cycle phase transition (GO:1901992), actin cytoskeleton organization (GO:0030036), cell-cell adhesion (GO:0098609)
GO Molecular Function (4): actin binding (GO:0003779), tropomyosin binding (GO:0005523), cadherin binding involved in cell-cell adhesion (GO:0098641), protein binding (GO:0005515)
GO Cellular Component (5): cytoskeleton (GO:0005856), striated muscle thin filament (GO:0005865), adherens junction (GO:0005912), myofibril (GO:0030016), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Muscle contraction | 1 |
| RHOBTB GTPase Cycle | 1 |
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| supramolecular fiber organization | 2 |
| cytoskeletal protein binding | 2 |
| muscle system process | 1 |
| actin cytoskeleton organization | 1 |
| cellular component assembly involved in morphogenesis | 1 |
| actomyosin structure organization | 1 |
| striated muscle cell development | 1 |
| membraneless organelle assembly | 1 |
| mitotic cell cycle | 1 |
| cell cycle phase transition | 1 |
| mitotic cell cycle process | 1 |
| erythrocyte differentiation | 1 |
| myeloid cell development | 1 |
| actin filament capping | 1 |
| mitotic cell cycle phase transition | 1 |
| positive regulation of mitotic cell cycle | 1 |
| positive regulation of cell cycle phase transition | 1 |
| regulation of mitotic cell cycle phase transition | 1 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| cell adhesion | 1 |
| cadherin binding | 1 |
| cell-cell adhesion | 1 |
| cell-cell adhesion mediator activity | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| actin cytoskeleton | 1 |
| sarcomere | 1 |
| myofilament | 1 |
| cell-cell junction | 1 |
| contractile muscle fiber | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1180 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMOD3 | ADD1 | P35611 | 955 |
| TMOD3 | ADD2 | P35612 | 945 |
| TMOD3 | ADD3 | Q9UEY8 | 939 |
| TMOD3 | NEB | P20929 | 917 |
| TMOD3 | CGNL1 | Q0VF96 | 906 |
| TMOD3 | DMTN | Q08495 | 894 |
| TMOD3 | CARMIL2 | Q6F5E8 | 847 |
| TMOD3 | EPB41 | P11171 | 821 |
| TMOD3 | ANK1 | P16157 | 801 |
| TMOD3 | CAPZA2 | P47755 | 798 |
| TMOD3 | CAPZA1 | P52907 | 796 |
| TMOD3 | CYP19A1 | P11511 | 735 |
| TMOD3 | MYPN | Q86TC9 | 724 |
| TMOD3 | ANK2 | Q01484 | 708 |
| TMOD3 | ANK3 | Q12955 | 693 |
IntAct
178 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRPF3 | PRPF4 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| DAPK1 | MYO1B | psi-mi:“MI:0914”(association) | 0.530 |
| LIN9 | MYBL1 | psi-mi:“MI:0914”(association) | 0.530 |
| TWF1 | MYO1C | psi-mi:“MI:0914”(association) | 0.530 |
| SSH1 | GSN | psi-mi:“MI:0914”(association) | 0.530 |
| DBN1 | SVIL | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| FOS | MYO1C | psi-mi:“MI:2364”(proximity) | 0.480 |
| TMOD3 | CSNK2A1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| Tubgcp3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Cbx1 | FLOT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Cdk1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Poc1b | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Pafah1b1 | EDIL3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Erh | BCLAF3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Stag2 | PPP1R12A | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (362): TMOD3 (Affinity Capture-MS), TMOD3 (Affinity Capture-MS), TMOD3 (Affinity Capture-MS), ATP6V1B2 (Co-fractionation), MCFD2 (Co-fractionation), PAM16 (Co-fractionation), RUVBL2 (Co-fractionation), SMARCC1 (Co-fractionation), SMARCC2 (Co-fractionation), SNRPD1 (Co-fractionation), TMOD3 (Co-fractionation), TMOD3 (Co-fractionation), TMOD3 (Co-fractionation), TMOD3 (Co-fractionation), TMOD3 (Co-fractionation)
ESM2 similar proteins: A0A1L8G016, A1A5Q0, B3DH20, D3Z8X7, D4A1F2, E1BTG2, F1MF74, F1RA39, O14730, O60308, O88978, O94851, O95801, P51432, P70566, Q1RMR5, Q1RMT7, Q28FY0, Q2YDM7, Q3UHZ5, Q3UM18, Q4KLT3, Q4R3F0, Q4R8L2, Q5BJT6, Q5EA11, Q5ZJD3, Q6AZN0, Q6P5Q4, Q7Z569, Q80V31, Q863A4, Q863A5, Q863A6, Q863A7, Q86X45, Q8BML1, Q8CCP0, Q8R368, Q8R3H9
Diamond homologs: A0A0G2K0D3, A0JNC0, A1A5Q0, E1BTG2, E7F7X0, E9QA62, O01479, P28289, P29536, P49813, P70566, P70567, Q0VAK6, Q0VC48, Q3UHZ5, Q6P5Q4, Q8BVA4, Q9JHJ0, Q9JKK7, Q9JLH8, Q9NYL9, Q9NZQ9, Q9NZR1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 187 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 |
|---|---|---|---|
| RHO GTPases activate PAKs | 6 | 28.6× | 4e-05 |
| Signaling by RAS mutants | 5 | 18.6× | 2e-03 |
| RHO GTPases activate IQGAPs | 5 | 15.2× | 3e-03 |
| Sensory processing of sound | 5 | 13.5× | 3e-03 |
| Signaling by FGFR1 in disease | 5 | 12.8× | 3e-03 |
| Signaling by RAF1 mutants | 5 | 12.2× | 4e-03 |
| Signaling by moderate kinase activity BRAF mutants | 5 | 11.1× | 4e-03 |
| Paradoxical activation of RAF signaling by kinase inactive BRAF | 5 | 11.1× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| barbed-end actin filament capping | 6 | 31.7× | 2e-05 |
| actin filament-based movement | 5 | 26.4× | 5e-04 |
| actin polymerization or depolymerization | 5 | 25.2× | 5e-04 |
| platelet aggregation | 5 | 11.1× | 1e-02 |
| actin filament organization | 12 | 9.4× | 8e-06 |
| cellular response to type II interferon | 6 | 8.2× | 1e-02 |
| actin cytoskeleton organization | 11 | 5.7× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2545 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:51829834:CAGG:C | donor_loss | 1.0000 |
| 15:51829835:AGG:A | donor_loss | 1.0000 |
| 15:51829837:G:C | donor_loss | 1.0000 |
| 15:51835055:T:G | donor_gain | 1.0000 |
| 15:51862806:CATA:C | acceptor_loss | 1.0000 |
| 15:51862808:TAGC:T | acceptor_loss | 1.0000 |
| 15:51862809:A:AG | acceptor_gain | 1.0000 |
| 15:51862809:A:C | acceptor_loss | 1.0000 |
| 15:51862810:G:GC | acceptor_loss | 1.0000 |
| 15:51862810:G:GG | acceptor_gain | 1.0000 |
| 15:51863010:GGTA:G | donor_loss | 1.0000 |
| 15:51863011:GTA:G | donor_loss | 1.0000 |
| 15:51863012:T:A | donor_loss | 1.0000 |
| 15:51869372:AGGT:A | donor_loss | 1.0000 |
| 15:51869374:G:GA | donor_loss | 1.0000 |
| 15:51869374:G:GG | donor_gain | 1.0000 |
| 15:51869375:T:G | donor_loss | 1.0000 |
| 15:51887584:TACA:T | acceptor_loss | 1.0000 |
| 15:51887586:CAGG:C | acceptor_loss | 1.0000 |
| 15:51887587:A:AG | acceptor_gain | 1.0000 |
| 15:51887588:G:A | acceptor_loss | 1.0000 |
| 15:51887588:G:GG | acceptor_gain | 1.0000 |
| 15:51887711:GG:G | donor_loss | 1.0000 |
| 15:51887713:T:G | donor_loss | 1.0000 |
| 15:51887729:T:G | donor_gain | 1.0000 |
| 15:51889050:TTATA:T | acceptor_loss | 1.0000 |
| 15:51889051:TATA:T | acceptor_loss | 1.0000 |
| 15:51889052:ATAG:A | acceptor_loss | 1.0000 |
| 15:51889053:TA:T | acceptor_loss | 1.0000 |
| 15:51889054:A:AC | acceptor_loss | 1.0000 |
AlphaMissense
2341 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:51900214:C:A | N265K | 0.999 |
| 15:51900214:C:G | N265K | 0.999 |
| 15:51896506:A:C | S239R | 0.998 |
| 15:51896508:C:A | S239R | 0.998 |
| 15:51896508:C:G | S239R | 0.998 |
| 15:51900213:A:T | N265I | 0.995 |
| 15:51869296:T:C | L69P | 0.994 |
| 15:51896522:C:A | A244D | 0.994 |
| 15:51900209:T:C | S264P | 0.994 |
| 15:51901976:T:C | F322L | 0.994 |
| 15:51901978:T:A | F322L | 0.994 |
| 15:51901978:T:G | F322L | 0.994 |
| 15:51900298:G:C | Q293H | 0.993 |
| 15:51900298:G:T | Q293H | 0.993 |
| 15:51902012:G:C | A334P | 0.993 |
| 15:51908778:C:A | R343S | 0.993 |
| 15:51869319:G:C | A77P | 0.992 |
| 15:51896519:T:A | V243D | 0.992 |
| 15:51900212:A:T | N265Y | 0.992 |
| 15:51900215:T:C | F266L | 0.992 |
| 15:51900217:T:A | F266L | 0.992 |
| 15:51900217:T:G | F266L | 0.992 |
| 15:51901977:T:C | F322S | 0.992 |
| 15:51893932:T:C | L205S | 0.991 |
| 15:51893939:T:A | N207K | 0.991 |
| 15:51893939:T:G | N207K | 0.991 |
| 15:51901995:G:C | R328P | 0.991 |
| 15:51862979:T:C | L32P | 0.990 |
| 15:51887673:T:C | L123S | 0.990 |
| 15:51893936:T:A | N206K | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000063084 (15:51862492 A>G), RS1000074884 (15:51832575 T>G), RS1000087447 (15:51909772 A>G), RS1000092852 (15:51892312 A>G), RS1000118425 (15:51877156 A>G), RS1000184533 (15:51880199 A>G), RS1000198182 (15:51861855 C>G,T), RS1000222442 (15:51885341 G>C), RS1000224434 (15:51900986 C>T), RS1000252743 (15:51843423 A>G,T), RS1000290989 (15:51856946 G>A,T), RS1000294377 (15:51849899 A>G), RS1000299360 (15:51901343 A>G), RS1000374896 (15:51850137 T>C), RS1000399712 (15:51856054 G>A)
Disease associations
OMIM: gene MIM:605112 | 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
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation, increases expression | 3 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| bufalin | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| cupric oxide | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Furaldehyde | affects cotreatment, increases expression | 1 |
| Haloperidol | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phenobarbital | affects expression | 1 |
| Rotenone | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2IV | Abcam HeLa TMOD3 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.