DSTN
gene geneOn this page
Also known as ADFACTDP
Summary
DSTN (destrin, actin depolymerizing factor, HGNC:15750) is a protein-coding gene on chromosome 20p12.1, encoding Destrin (P60981). Actin-depolymerizing protein. It is a selective cancer dependency (DepMap: 10.2% of cell lines).
The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene.
Source: NCBI Gene 11034 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 17 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 10.2% of screened cell lines
- MANE Select transcript:
NM_006870
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15750 |
| Approved symbol | DSTN |
| Name | destrin, actin depolymerizing factor |
| Location | 20p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ADF, ACTDP |
| Ensembl gene | ENSG00000125868 |
| Ensembl biotype | protein_coding |
| OMIM | 609114 |
| Entrez | 11034 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay
ENST00000246069, ENST00000449141, ENST00000474024, ENST00000888381, ENST00000925115, ENST00000925116, ENST00000955166
RefSeq mRNA: 2 — MANE Select: NM_006870
NM_001011546, NM_006870
CCDS: CCDS13127, CCDS46580
Canonical transcript exons
ENST00000246069 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001710202 | 17570075 | 17570211 |
| ENSE00003459031 | 17607037 | 17609919 |
| ENSE00003493706 | 17600738 | 17601045 |
| ENSE00003702589 | 17604555 | 17604631 |
Expression profiles
Bgee: expression breadth ubiquitous, 304 present calls, max score 99.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 287.5698 / max 2127.3404, expressed in 1825 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183652 | 273.7708 | 1825 |
| 183653 | 9.4144 | 1631 |
| 183649 | 3.1281 | 1071 |
| 183651 | 0.5376 | 244 |
| 183650 | 0.3805 | 198 |
| 183648 | 0.3385 | 203 |
Top tissues by expression
304 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood vessel layer | UBERON:0004797 | 99.97 | gold quality |
| saphenous vein | UBERON:0007318 | 99.97 | gold quality |
| urethra | UBERON:0000057 | 99.95 | gold quality |
| popliteal artery | UBERON:0002250 | 99.93 | gold quality |
| tibial artery | UBERON:0007610 | 99.93 | gold quality |
| right coronary artery | UBERON:0001625 | 99.92 | gold quality |
| artery | UBERON:0001637 | 99.92 | gold quality |
| aorta | UBERON:0000947 | 99.91 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.90 | gold quality |
| vena cava | UBERON:0004087 | 99.90 | gold quality |
| ascending aorta | UBERON:0001496 | 99.88 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.88 | gold quality |
| superficial temporal artery | UBERON:0001614 | 99.87 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.86 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 99.85 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.84 | gold quality |
| coronary artery | UBERON:0001621 | 99.84 | gold quality |
| lower esophagus | UBERON:0013473 | 99.84 | gold quality |
| left coronary artery | UBERON:0001626 | 99.83 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 99.81 | gold quality |
| bronchial epithelial cell | CL:0002328 | 99.80 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.80 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.80 | gold quality |
| pons | UBERON:0000988 | 99.79 | gold quality |
| adult organism | UBERON:0007023 | 99.79 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 99.77 | gold quality |
| cardia of stomach | UBERON:0001162 | 99.77 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.76 | gold quality |
| penis | UBERON:0000989 | 99.74 | gold quality |
| pylorus | UBERON:0001166 | 99.73 | gold quality |
Single-cell (SCXA)
Detected in 29 experiment(s), a significant marker in 25.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-126 | yes | 6642.58 |
| E-HCAD-36 | yes | 5332.53 |
| E-MTAB-10287 | yes | 5048.57 |
| E-MTAB-10885 | yes | 4601.43 |
| E-MTAB-8410 | yes | 4509.24 |
| E-MTAB-8322 | yes | 4158.30 |
| E-HCAD-13 | yes | 3075.68 |
| E-MTAB-8381 | yes | 2944.65 |
| E-MTAB-8142 | yes | 2721.45 |
| E-MTAB-9906 | yes | 2218.02 |
| E-HCAD-1 | yes | 211.24 |
| E-GEOD-134144 | yes | 34.79 |
| E-GEOD-137537 | yes | 31.31 |
| E-MTAB-6678 | yes | 28.74 |
| E-CURD-46 | yes | 28.26 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ZNF331
miRNA regulators (miRDB)
71 targeting DSTN, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4804-3P | 99.65 | 67.78 | 866 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-885-5P | 99.59 | 68.59 | 879 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-451B | 99.55 | 68.28 | 1380 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 10.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 15)
- differences in actin binding by human ADF and cofilin (PMID:11812157)
- Important sequence differences between actin-depolymerizing factor/cofilin were correlated with unique structural determinants in the F-actin-binding site to account for differences in biochemical activities of the two proteins. (PMID:14627701)
- downregulated following UV exposure in epidermis (PMID:15816841)
- In the absence of any crystal structures of ADF or cofilin in complex with actin, these studies provide further information about the binding sites on F-actin for these important actin regulatory proteins. (PMID:17196218)
- destrin is a significant regulator of various processes important for invasive phenotype of human colon cancer Isreco1 cells whereas cofilin-1 may be involved in only a subset of them (PMID:17583572)
- The results of this study suggested that temporally regulated ADF/cofilin activities function in postsynaptic modifications of receptor number and spine size during synaptic plasticity. (PMID:20835250)
- Changes in the expression of cytoskeletal regulatory proteins such as LIMK and cofilin may play a role in weakening thoracic aortic medial tissue, as a precondition to thoracic aortic dissection. (PMID:20873970)
- The ADF/cofilin1-dependent severing of actin filaments exposes and promotes the activation of SPCA1, which pumps Ca(2+) into the lumen of the TGN for the sorting of the class of secretory cargo that binds Ca(2+). (PMID:21571222)
- Destrin is upregulated in nerve-invasive pancreatic cancer cells and its expression might be related to perineural invasiveness (PMID:22898637)
- analysis of human Cof1, Cof2, and ADF effects on actin filament severing and turnover (PMID:26996939)
- Destrin Contributes to Lung Adenocarcinoma Progression by Activating Wnt/beta-Catenin Signaling Pathway. (PMID:32878967)
- Positive natural selection of N6-methyladenosine on the RNAs of processed pseudogenes. (PMID:34120636)
- ADF and cofilin-1 collaborate to promote cortical actin flow and the leader bleb-based migration of confined cells. (PMID:34169836)
- The actin depolymerizing factor destrin serves as a negative feedback inhibitor of smooth muscle cell differentiation. (PMID:34559579)
- DSTN Hypomethylation Promotes Radiotherapy Resistance of Rectal Cancer by Activating the Wnt/beta-Catenin Signaling Pathway. (PMID:37019366)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dstn | ENSMUSG00000015932 |
| rattus_norvegicus | Dstn | ENSRNOG00000005924 |
| rattus_norvegicus | ENSRNOG00000073635 | |
| drosophila_melanogaster | tsr | FBGN0011726 |
| drosophila_melanogaster | CG6873 | FBGN0030951 |
| caenorhabditis_elegans | WBGENE00006794 | |
| caenorhabditis_elegans | WBGENE00302980 |
Paralogs (2): CFL2 (ENSG00000165410), CFL1 (ENSG00000172757)
Protein
Protein identifiers
Destrin — P60981 (reviewed: P60981)
Alternative names: Actin-depolymerizing factor
All UniProt accessions (3): P60981, F6RFD5, V9HWA6
UniProt curated annotations — full annotation on UniProt →
Function. Actin-depolymerizing protein. Severs actin filaments (F-actin) and binds to actin monomers (G-actin). Acts in a pH-independent manner.
Tissue specificity. Widely distributed in various tissues.
Post-translational modifications. ISGylated.
Similarity. Belongs to the actin-binding proteins ADF family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P60981-1 | 1 | yes |
| P60981-2 | 2 |
RefSeq proteins (2): NP_001011546, NP_006861* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002108 | ADF-H | Domain |
| IPR017904 | ADF/Cofilin | Family |
| IPR029006 | ADF-H/Gelsolin-like_dom_sf | Homologous_superfamily |
Pfam: PF00241
UniProt features (9 total): modified residue 3, initiator methionine 1, chain 1, domain 1, short sequence motif 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P60981-F1 | 87.03 | 0.28 |
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 (3): 2, 3, 19
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 267 (showing top):
FREAC2_01, GRUETZMANN_PANCREATIC_CANCER_DN, AREB6_03, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, HSIAO_HOUSEKEEPING_GENES, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOLDRATH_ANTIGEN_RESPONSE, SRF_Q5_01, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, PAPASPYRIDONOS_UNSTABLE_ATEROSCLEROTIC_PLAQUE_DN, SRF_C, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP
GO Biological Process (6): actin polymerization or depolymerization (GO:0008154), actin filament depolymerization (GO:0030042), actin filament fragmentation (GO:0030043), positive regulation of actin filament depolymerization (GO:0030836), cell motility (GO:0048870), actin filament severing (GO:0051014)
GO Molecular Function (3): actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (7): cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), cortical actin cytoskeleton (GO:0030864), extracellular exosome (GO:0070062), presynapse (GO:0098793), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| synapse | 3 |
| actin filament depolymerization | 2 |
| actin filament organization | 1 |
| actin polymerization or depolymerization | 1 |
| protein depolymerization | 1 |
| regulation of actin filament depolymerization | 1 |
| positive regulation of cytoskeleton organization | 1 |
| positive regulation of protein depolymerization | 1 |
| positive regulation of supramolecular fiber organization | 1 |
| cellular process | 1 |
| actin filament-based process | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoskeleton | 1 |
| actin cytoskeleton | 1 |
| cortical cytoskeleton | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
105 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DSTN | ACTB | psi-mi:“MI:0915”(physical association) | 0.900 |
| ACTB | DSTN | psi-mi:“MI:0915”(physical association) | 0.900 |
| AKR7A3 | AKR7A2 | psi-mi:“MI:0914”(association) | 0.890 |
| DSTN | ACTG1 | psi-mi:“MI:0915”(physical association) | 0.790 |
| ACTG1 | DSTN | psi-mi:“MI:0915”(physical association) | 0.790 |
| CFTR | DSTN | psi-mi:“MI:0915”(physical association) | 0.740 |
| TAX1BP1 | DSTN | psi-mi:“MI:0915”(physical association) | 0.720 |
| DSTN | TAX1BP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFL1 | CAP2 | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| DSTN | PS1TP5BP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (244): DSTN (Two-hybrid), DSTN (Two-hybrid), DSTN (Two-hybrid), DSTN (Two-hybrid), DSTN (Affinity Capture-MS), DSTN (Two-hybrid), DSTN (Two-hybrid), ABAT (Co-fractionation), ALDH4A1 (Co-fractionation), DSTN (Co-fractionation), DSTN (Co-fractionation), DSTN (Co-fractionation), DSTN (Co-fractionation), DSTN (Co-fractionation), DSTN (Co-fractionation)
ESM2 similar proteins: O60234, O88600, O95757, P10668, P18359, P18760, P21566, P23514, P23528, P34932, P45591, P45592, P45593, P45594, P45695, P48722, P54577, P60981, P60982, P60983, P60984, Q03048, Q148F1, Q2TFN9, Q4I963, Q4KM49, Q4R5C0, Q56JZ9, Q5E9D5, Q5E9F7, Q5G6V9, Q5R6P6, Q5R8T5, Q5RDM4, Q5U4Y2, Q5XHH8, Q5ZJ08, Q61316, Q63228, Q6B7M7
Diamond homologs: C4LVG4, O49606, P0CM06, P0CM07, P0DJ26, P0DJ27, P10668, P18359, P18760, P23528, P30174, P30175, P37167, P45592, P45594, P46251, P60981, P60982, P78929, P86293, Q03048, Q0D744, Q0DLA3, Q17A58, Q2QLT8, Q337A5, Q39250, Q39251, Q41764, Q43694, Q4I963, Q4P6E9, Q4R5C0, Q54R65, Q570Y6, Q5E9D5, Q5E9F7, Q5I082, Q5ZM35, Q640W2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TESK2 | “down-regulates activity” | DSTN | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 77 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 |
|---|---|---|---|
| Signaling by VEGF | 5 | 22.0× | 1e-03 |
| Regulation of actin dynamics for phagocytic cup formation | 5 | 18.4× | 1e-03 |
| Leishmania infection | 5 | 16.3× | 1e-03 |
| Parasitic Infection Pathways | 5 | 16.3× | 1e-03 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 5 | 15.4× | 1e-03 |
| VEGFA-VEGFR2 Pathway | 5 | 13.9× | 1e-03 |
| MAPK family signaling cascades | 5 | 10.3× | 3e-03 |
| Diseases of signal transduction by growth factor receptors and second messengers | 7 | 8.0× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Ras protein signal transduction | 5 | 15.3× | 3e-03 |
| transforming growth factor beta receptor signaling pathway | 6 | 14.2× | 2e-03 |
| axonogenesis | 5 | 12.0× | 6e-03 |
| positive regulation of cell migration | 8 | 7.4× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1007 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:17601043:GTG:G | donor_gain | 1.0000 |
| 20:17601045:GGTA:G | donor_loss | 1.0000 |
| 20:17601046:GT:G | donor_loss | 1.0000 |
| 20:17570208:GATG:G | donor_gain | 0.9900 |
| 20:17570209:ATGG:A | donor_loss | 0.9900 |
| 20:17570210:TG:T | donor_gain | 0.9900 |
| 20:17570210:TGGT:T | donor_loss | 0.9900 |
| 20:17570211:GG:G | donor_gain | 0.9900 |
| 20:17570212:G:GG | donor_gain | 0.9900 |
| 20:17570212:G:T | donor_loss | 0.9900 |
| 20:17570213:TGA:T | donor_loss | 0.9900 |
| 20:17570214:GAG:G | donor_loss | 0.9900 |
| 20:17590477:ATGGG:A | acceptor_gain | 0.9900 |
| 20:17600733:CATA:C | acceptor_loss | 0.9900 |
| 20:17600735:TAGGC:T | acceptor_loss | 0.9900 |
| 20:17600736:A:AG | acceptor_gain | 0.9900 |
| 20:17600736:A:G | acceptor_loss | 0.9900 |
| 20:17600737:G:GG | acceptor_gain | 0.9900 |
| 20:17600737:G:GT | acceptor_loss | 0.9900 |
| 20:17601023:G:GT | donor_gain | 0.9900 |
| 20:17601046:G:GG | donor_gain | 0.9900 |
| 20:17601047:T:G | donor_loss | 0.9900 |
| 20:17601048:AA:A | donor_loss | 0.9900 |
| 20:17604552:TAGG:T | acceptor_loss | 0.9900 |
| 20:17604553:A:AG | acceptor_gain | 0.9900 |
| 20:17604554:G:GA | acceptor_loss | 0.9900 |
| 20:17604554:G:GG | acceptor_gain | 0.9900 |
| 20:17604542:T:G | acceptor_gain | 0.9800 |
| 20:17604553:AG:A | acceptor_gain | 0.9800 |
| 20:17604554:GG:G | acceptor_gain | 0.9800 |
AlphaMissense
1096 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:17600744:G:A | G4R | 1.000 |
| 20:17600744:G:C | G4R | 1.000 |
| 20:17600745:G:A | G4E | 1.000 |
| 20:17600978:T:C | Y82H | 1.000 |
| 20:17600999:T:C | F89L | 1.000 |
| 20:17601001:T:A | F89L | 1.000 |
| 20:17601001:T:G | F89L | 1.000 |
| 20:17601044:T:A | W104R | 1.000 |
| 20:17601044:T:C | W104R | 1.000 |
| 20:17604585:A:C | K114N | 1.000 |
| 20:17604585:A:T | K114N | 1.000 |
| 20:17604587:T:A | M115K | 1.000 |
| 20:17604587:T:C | M115T | 1.000 |
| 20:17604587:T:G | M115R | 1.000 |
| 20:17604602:C:T | S120F | 1.000 |
| 20:17600745:G:T | G4V | 0.999 |
| 20:17600777:T:C | F15L | 0.999 |
| 20:17600779:T:A | F15L | 0.999 |
| 20:17600779:T:G | F15L | 0.999 |
| 20:17600791:A:C | K19N | 0.999 |
| 20:17600791:A:T | K19N | 0.999 |
| 20:17600830:A:C | R32S | 0.999 |
| 20:17600830:A:T | R32S | 0.999 |
| 20:17600836:G:C | K34N | 0.999 |
| 20:17600836:G:T | K34N | 0.999 |
| 20:17600841:T:A | V36D | 0.999 |
| 20:17600847:T:C | F38S | 0.999 |
| 20:17600874:T:A | I47N | 0.999 |
| 20:17600874:T:C | I47T | 0.999 |
| 20:17600874:T:G | I47S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000011717 (20:17605741 A>G), RS1000110313 (20:17579970 T>A), RS1000141934 (20:17589147 C>A,T), RS1000269101 (20:17586238 C>G), RS1000420569 (20:17593186 G>C), RS1000497831 (20:17609931 CTG>C), RS1000523595 (20:17600153 T>C), RS1000611030 (20:17573407 G>A,T), RS1000700560 (20:17606623 G>A), RS1000808552 (20:17585933 G>A), RS1000809018 (20:17568960 G>A), RS1000815338 (20:17606415 G>A), RS1000825712 (20:17579389 A>G), RS1000943079 (20:17568686 C>A,G,T), RS1001112318 (20:17581392 G>A)
Disease associations
OMIM: gene MIM:609114 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001872_12 | Presence of antiphospholipid antibodies | 6.000000e-06 |
| GCST005196_242 | Coronary artery disease | 1.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725005 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.76 | Kd | 1744 | nM | CHEMBL5653589 |
| 5.76 | ED50 | 1744 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 8 total; 1 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 | 2148266: Binding affinity to human DSTN incubated for 45 mins by Kinobead based pull down assay | kd | 1.7440 | uM |
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment | 3 |
| Smoke | increases expression, decreases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | affects cotreatment, decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | decreases expression, increases expression, affects cotreatment, affects localization | 1 |
| kojic acid | increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| nickel sulfate | decreases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | 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 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| ICG 001 | decreases expression | 1 |
| bromovanin | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects expression | 1 |
| Sunitinib | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651308 | Binding | Binding affinity to human DSTN incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.