TXNDC17
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Also known as MGC14353TRP14
Summary
TXNDC17 (thioredoxin domain containing 17, HGNC:28218) is a protein-coding gene on chromosome 17p13.1, encoding Thioredoxin domain-containing protein 17 (Q9BRA2). Disulfide reductase.
Enables peroxidase activity and protein-disulfide reductase [NAD(P)H] activity. Involved in tumor necrosis factor-mediated signaling pathway. Located in cytosol.
Source: NCBI Gene 84817 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 29 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_032731
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28218 |
| Approved symbol | TXNDC17 |
| Name | thioredoxin domain containing 17 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC14353, TRP14 |
| Ensembl gene | ENSG00000129235 |
| Ensembl biotype | protein_coding |
| OMIM | 616967 |
| Entrez | 84817 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 5 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000250101, ENST00000570330, ENST00000571029, ENST00000571957, ENST00000573792, ENST00000574429, ENST00000574734, ENST00000574838, ENST00000576020, ENST00000577146, ENST00000939769, ENST00000939770
RefSeq mRNA: 1 — MANE Select: NM_032731
NM_032731
CCDS: CCDS11077
Canonical transcript exons
ENST00000250101 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000905317 | 6641060 | 6641227 |
| ENSE00001204349 | 6642951 | 6644541 |
| ENSE00003482800 | 6642249 | 6642324 |
| ENSE00003491194 | 6641753 | 6641834 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 99.59.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 107.1867 / max 1059.0840, expressed in 1827 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159058 | 66.1614 | 1823 |
| 159055 | 27.1551 | 1817 |
| 159056 | 7.3458 | 1741 |
| 159057 | 6.3643 | 1684 |
| 159054 | 0.1601 | 84 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.59 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.35 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.16 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.00 | gold quality |
| oocyte | CL:0000023 | 98.99 | gold quality |
| oral cavity | UBERON:0000167 | 98.80 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.64 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.62 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.36 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.33 | gold quality |
| duodenum | UBERON:0002114 | 98.13 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.10 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.96 | gold quality |
| rectum | UBERON:0001052 | 97.88 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.70 | gold quality |
| upper arm skin | UBERON:0004263 | 97.55 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.48 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 97.42 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.17 | gold quality |
| body of stomach | UBERON:0001161 | 97.15 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.14 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.12 | gold quality |
| body of pancreas | UBERON:0001150 | 97.08 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.04 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.02 | gold quality |
| secondary oocyte | CL:0000655 | 96.97 | gold quality |
| gingiva | UBERON:0001828 | 96.93 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.90 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.77 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6653 | yes | 1477.69 |
| E-HCAD-1 | yes | 282.19 |
| E-CURD-114 | yes | 77.31 |
| E-ANND-3 | yes | 19.05 |
| E-MTAB-10042 | yes | 7.16 |
| E-MTAB-8495 | no | 1655.57 |
| E-GEOD-86618 | no | 1041.55 |
| E-MTAB-7303 | no | 627.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
78 targeting TXNDC17, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
Literature-anchored findings (GeneRIF, showing 9)
- TRP14 is a thioredoxin-related protein with roles in tumor necrosis factor-alpha signaling pathways (PMID:14607843)
- TRP14 is a thioredoxin-related protein of 14 kDa (PMID:14607844)
- Data report the crystal structure of human thioredoxin-related protein 14 determined at 1.8-angstrom resolution. (PMID:15355959)
- LC8 binds IkappaBalpha in a redox-dependent manner and thereby prevents its phosphorylation by IKK. TRP14 contributes to this inhibitory activity by maintaining LC8 in a reduced state. (PMID:18579519)
- The oxidoreductase activities of TRP14 thereby complement those of Trx1 and must therefore be considered for the full understanding of enzymatic control of cellular thiols and nitrosothiols. (PMID:24778250)
- TXNDC17, through participation of BECN1, induces autophagy and consequently results in paclitaxel resistance in ovarian cancer (PMID:25607466)
- Cellular S-denitrosylases: Potential role and interplay of Thioredoxin, TRP14, and Glutaredoxin systems in thiol-dependent protein denitrosylation. (PMID:33359085)
- TRP14 is the rate-limiting enzyme for intracellular cystine reduction and regulates proteome cysteinylation. (PMID:38811853)
- In-Depth Proteomic Analysis of Paraffin-Embedded Tissue Samples from Colorectal Cancer Patients Revealed TXNDC17 and SLC8A1 as Key Proteins Associated with the Disease. (PMID:39441737)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | txndc17 | ENSDARG00000058079 |
| mus_musculus | Txndc17 | ENSMUSG00000020803 |
| rattus_norvegicus | Txndc17 | ENSRNOG00000083034 |
| drosophila_melanogaster | cl | FBGN0000318 |
| drosophila_melanogaster | CG3939 | FBGN0040396 |
| caenorhabditis_elegans | WBGENE00022188 |
Protein
Protein identifiers
Thioredoxin domain-containing protein 17 — Q9BRA2 (reviewed: Q9BRA2)
Alternative names: 14 kDa thioredoxin-related protein, Protein 42-9-9, Thioredoxin-like protein 5
All UniProt accessions (5): Q9BRA2, A0A140VJY7, I3L0K2, I3L2R6, I3L3M7
UniProt curated annotations — full annotation on UniProt →
Function. Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide.
Subunit / interactions. Interacts with TRXR1 and DYNLL1/DNCL1.
Subcellular location. Cytoplasm.
Tissue specificity. Ubiquitously expressed in cell lines.
Post-translational modifications. The oxidized protein is reduced by TRXR1.
Similarity. Belongs to the thioredoxin family.
RefSeq proteins (1): NP_116120* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010357 | TXNDC17_dom | Domain |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
| IPR045108 | TXNDC17-like | Family |
Pfam: PF06110
Enzyme classification (BRENDA):
- EC 1.8.1.6 — cystine reductase (BRENDA: 9 organisms, 7 substrates, 9 inhibitors, 5 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| L-CYSTINE | 0.0008–0.9 | 3 |
UniProt features (24 total): helix 7, strand 5, mutagenesis site 2, active site 2, site 2, initiator methionine 1, chain 1, turn 1, domain 1, modified residue 1, disulfide bond 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1WOU | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRA2-F1 | 95.89 | 0.96 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (4): 43 (nucleophile); 46 (nucleophile); 44 (contributes to redox potential value); 45 (contributes to redox potential value)
Post-translational modifications (1): 2
Disulfide bonds (1): 43–46
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 46 | loss of peroxidase activity. |
| 43 | loss of peroxidase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 161 (showing top):
GOBP_RESPONSE_TO_PEPTIDE, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, GOBP_DETOXIFICATION, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, RYTTCCTG_ETS2_B, GOMF_ANTIOXIDANT_ACTIVITY, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PEROXIDE_AS_ACCEPTOR, GOBP_RESPONSE_TO_TOXIC_SUBSTANCE, GOBP_RESPONSE_TO_TUMOR_NECROSIS_FACTOR, GOMF_DISULFIDE_OXIDOREDUCTASE_ACTIVITY, MODULE_49
GO Biological Process (2): tumor necrosis factor-mediated signaling pathway (GO:0033209), cellular oxidant detoxification (GO:0098869)
GO Molecular Function (3): peroxidase activity (GO:0004601), protein-disulfide reductase [NAD(P)H] activity (GO:0047134), protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytokine-mediated signaling pathway | 1 |
| cellular response to tumor necrosis factor | 1 |
| cellular detoxification | 1 |
| antioxidant activity | 1 |
| oxidoreductase activity, acting on peroxide as acceptor | 1 |
| protein-disulfide reductase activity | 1 |
| oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor | 1 |
| binding | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
916 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TXNDC17 | TRPC7 | Q9HCX4 | 772 |
| TXNDC17 | TXN | P10599 | 724 |
| TXNDC17 | TXNL1 | O43396 | 688 |
| TXNDC17 | TXNRD1 | Q16881 | 579 |
| TXNDC17 | NXN | Q6DKJ4 | 549 |
| TXNDC17 | MB | P02144 | 506 |
| TXNDC17 | F2R | P25116 | 463 |
| TXNDC17 | TXN2 | Q99757 | 432 |
| TXNDC17 | NDUFAB1 | O14561 | 423 |
| TXNDC17 | GLRX | P35754 | 404 |
| TXNDC17 | ATP5MK | Q96IX5 | 404 |
| TXNDC17 | NDUFS5 | O43920 | 396 |
| TXNDC17 | ERCC6L2 | Q5T890 | 395 |
| TXNDC17 | AKR1A1 | P14550 | 394 |
| TXNDC17 | NDUFB6 | O95139 | 389 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EXOSC8 | TXNDC17 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TXNDC17 | EXOSC8 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RUFY1 | TXNDC17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TXNDC17 | RUFY1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| INCA1 | TXNDC17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TINF2 | TXNDC17 | psi-mi:“MI:0915”(physical association) | 0.510 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Cct4 | psi-mi:“MI:0914”(association) | 0.350 | |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| LMNA | CLIC1 | psi-mi:“MI:0914”(association) | 0.350 |
| TXNDC17 | CLIC2 | psi-mi:“MI:0914”(association) | 0.350 |
| VHL | TXNDC17 | psi-mi:“MI:0915”(physical association) | 0.000 |
| EPB41 | TXNDC17 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HLA-B | TXNDC17 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TXNDC17 | TINF2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TXNDC17 | EXOSC8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TXNDC17 | INCA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (71): TXNDC17 (Two-hybrid), TXNDC17 (Two-hybrid), NLRP5 (Co-fractionation), TXNDC17 (Co-fractionation), TXNDC17 (Co-fractionation), TXNDC17 (Co-fractionation), TXNDC17 (Affinity Capture-MS), TXNDC17 (Affinity Capture-MS), TXNDC17 (Affinity Capture-MS), TXNDC17 (Affinity Capture-RNA), INS (Biochemical Activity), OXT (Biochemical Activity), AVP (Biochemical Activity), DYNLL1 (Affinity Capture-MS), CFL1 (Affinity Capture-MS)
ESM2 similar proteins: A2VE14, A9CQL8, D3ZVR7, P22234, P51583, Q0VCJ8, Q0VD27, Q29RZ1, Q4R5H6, Q58CY6, Q5EA19, Q5F415, Q5H8A4, Q5NVN7, Q5R7S9, Q5RB59, Q5REA8, Q5RES2, Q5RFN0, Q5RKN4, Q5TM64, Q5VYX0, Q5XIC4, Q5ZIL9, Q5ZJB7, Q5ZMH6, Q67FW5, Q6AXQ0, Q6T311, Q86XW9, Q8BGB7, Q8BGR6, Q8BUH1, Q8BZI6, Q8MJJ1, Q8TBF2, Q8WWQ2, Q96MZ0, Q96NT3, Q9BRA2
Diamond homologs: A1L4T4, A2XCT8, A2Z7C4, A4HYT9, A7E4S9, A7Z3X7, A8N4R7, A8N4R8, A8WMD5, A8XHQ1, A8YMJ4, A9BVZ7, A9SCJ6, A9SDW6, A9SS00, A9VCM7, A9VFE2, B0JUK9, B0SFU6, B0SP94, B2VAA3, B3QG72, B7PRF6, C0NZU2, C3ZAH2, C4YCU0, C5WWY0, C5X1F5, C7Z9Z4, D3BH90, D5GE59, D7T737, E0W481, E3KY53, E9AIE8, E9EUE8, F6HDT7, F6QS54, F6W3G8, F7FKV1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 583807 | NC_000017.10:g.(?6328760)(6616672_?)del | Pathogenic |
SpliceAI
665 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:6641179:GGTTC:G | donor_gain | 1.0000 |
| 17:6641188:G:GT | donor_gain | 1.0000 |
| 17:6642242:C:CA | acceptor_gain | 1.0000 |
| 17:6642247:A:AG | acceptor_gain | 1.0000 |
| 17:6642247:AGTT:A | acceptor_gain | 1.0000 |
| 17:6642248:G:GT | acceptor_gain | 1.0000 |
| 17:6642248:GTT:G | acceptor_gain | 1.0000 |
| 17:6642248:GTTG:G | acceptor_gain | 1.0000 |
| 17:6641180:GTTC:G | donor_gain | 0.9900 |
| 17:6641181:TTCT:T | donor_gain | 0.9900 |
| 17:6641226:GG:G | donor_gain | 0.9900 |
| 17:6641227:GG:G | donor_gain | 0.9900 |
| 17:6641830:CCTTA:C | donor_gain | 0.9900 |
| 17:6642247:AGTTG:A | acceptor_gain | 0.9900 |
| 17:6642248:GTTGG:G | acceptor_gain | 0.9900 |
| 17:6641271:G:GT | donor_gain | 0.9800 |
| 17:6641750:A:G | acceptor_gain | 0.9800 |
| 17:6641751:A:AG | acceptor_gain | 0.9800 |
| 17:6641752:G:GG | acceptor_gain | 0.9800 |
| 17:6641835:G:GG | donor_gain | 0.9800 |
| 17:6642246:TA:T | acceptor_loss | 0.9800 |
| 17:6642320:GAACA:G | donor_gain | 0.9800 |
| 17:6642325:G:GG | donor_gain | 0.9800 |
| 17:6641272:A:T | donor_gain | 0.9700 |
| 17:6641352:TCCCC:T | donor_gain | 0.9700 |
| 17:6641749:A:AG | acceptor_gain | 0.9700 |
| 17:6642322:ACAG:A | donor_loss | 0.9700 |
| 17:6642323:CAGT:C | donor_loss | 0.9700 |
| 17:6642324:AG:A | donor_loss | 0.9700 |
| 17:6642325:G:A | donor_loss | 0.9700 |
AlphaMissense
809 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:6641206:T:A | W42R | 0.997 |
| 17:6641206:T:C | W42R | 0.997 |
| 17:6641208:G:C | W42C | 0.996 |
| 17:6641208:G:T | W42C | 0.996 |
| 17:6642302:C:A | P94H | 0.996 |
| 17:6641209:T:C | C43R | 0.994 |
| 17:6642301:C:T | P94S | 0.994 |
| 17:6641219:G:A | C46Y | 0.993 |
| 17:6641814:C:G | C69W | 0.993 |
| 17:6642299:T:A | V93E | 0.993 |
| 17:6641220:C:G | C46W | 0.992 |
| 17:6642276:A:C | R85S | 0.992 |
| 17:6642276:A:T | R85S | 0.992 |
| 17:6642308:T:A | L96Q | 0.992 |
| 17:6642308:T:C | L96P | 0.991 |
| 17:6642301:C:A | P94T | 0.990 |
| 17:6641203:A:C | S41R | 0.989 |
| 17:6641205:C:A | S41R | 0.989 |
| 17:6641205:C:G | S41R | 0.989 |
| 17:6641219:G:T | C46F | 0.989 |
| 17:6641812:T:C | C69R | 0.989 |
| 17:6642271:T:C | F84L | 0.989 |
| 17:6642272:T:C | F84S | 0.989 |
| 17:6642273:C:A | F84L | 0.989 |
| 17:6642273:C:G | F84L | 0.989 |
| 17:6642302:C:G | P94R | 0.989 |
| 17:6642311:T:C | L97P | 0.989 |
| 17:6641180:G:A | G33D | 0.988 |
| 17:6641209:T:A | C43S | 0.988 |
| 17:6641210:G:C | C43S | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000365108 (17:6644143 G>A), RS1000788226 (17:6639355 G>A,C), RS1001333311 (17:6644781 C>A), RS1001380977 (17:6640174 G>A), RS1001413623 (17:6639900 A>G), RS1001418441 (17:6642229 C>T), RS1001814482 (17:6641049 T>A,C,G), RS1003390218 (17:6640261 G>T), RS1003424728 (17:6642490 T>A), RS1004982556 (17:6642805 T>A), RS1005988543 (17:6641227 G>C,T), RS1006010955 (17:6639761 T>C,G), RS1006957550 (17:6640575 C>A,T), RS1007464220 (17:6640800 A>G), RS1007623682 (17:6642366 G>A,C)
Disease associations
OMIM: gene MIM:616967 | disease phenotypes: MIM:604393, MIM:615905
GenCC curated gene-disease
Mondo (2): Leber congenital amaurosis 4 (MONDO:0011458), developmental and epileptic encephalopathy, 25 (MONDO:0014392)
Orphanet (1): Non-specific early-onset epileptic encephalopathy (Orphanet:442835)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009617_2 | LDL cholesterol levels x thiazide or thiazide-like diuretics use interaction | 1.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C565778 | Leber Congenital Amaurosis 4 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295935 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Vorinostat | increases expression | 3 |
| Tobacco Smoke Pollution | affects expression, decreases expression, increases expression | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| sodium arsenite | increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Cadmium Chloride | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| dimethylarsinous acid | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | affects response to substance | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects binding, increases reaction | 1 |
| Citrinin | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Diazinon | increases methylation | 1 |
| Diuron | decreases expression | 1 |
| Furaldehyde | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4232644 | Binding | Binding affinity to TXNDC17 cysteine residue in human 786-O cell soluble proteomic lysate at 5 uM incubated for 1 hr followed by cell lysis by IA-alkyne probe based isoTOP-ABPP analysis | Covalent inhibitors of nicotinamide N-methyltransferase (NNMT) provide evidence for target engagement challenges in situ. — Bioorg Med Chem Lett |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2MX | HAP1 TXNDC17 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
14 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01773278 | PHASE2 | RECRUITING | Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) |
| NCT06467344 | PHASE1/PHASE2 | RECRUITING | Study to Evaluate ACDN-01 in ABCA4-related Stargardt Retinopathy (STELLAR) |
| NCT06789445 | PHASE1/PHASE2 | RECRUITING | A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO) |
| NCT00427180 | Not specified | UNKNOWN | IRIS PILOT - Extended Pilot Study With a Retinal Implant System |
| NCT01864486 | Not specified | COMPLETED | Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy |
| NCT02435940 | Not specified | RECRUITING | Inherited Retinal Degenerative Disease Registry |
| NCT02670980 | Not specified | COMPLETED | Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy |
| NCT04658251 | Not specified | TERMINATED | Study of New Mutations in Cone Disorders |
| NCT05355415 | Not specified | RECRUITING | Adaptive Optics Imaging of Outer Retinal Diseases |
| NCT06445322 | Not specified | RECRUITING | Prescreening Study to Identify Potential Stargardt Participants for ACDN-01 Clinical Trials (STARPATH) |
| NCT07548944 | Not specified | RECRUITING | Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance |
| NCT07102524 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder |
| NCT04681781 | Not specified | ENROLLING_BY_INVITATION | SLC13A5 Deficiency Natural History Study - Remote Only |
| NCT06144957 | Not specified | ENROLLING_BY_INVITATION | SLC13A5 Deficiency Natural History Study - United States Only |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): developmental and epileptic encephalopathy, 25, Leber congenital amaurosis 4