DCTN3
gene geneOn this page
Also known as DCTN-22
Summary
DCTN3 (dynactin subunit 3, HGNC:2713) is a protein-coding gene on chromosome 9p13.3, encoding Dynactin subunit 3 (O75935). Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. It is a selective cancer dependency (DepMap: 87.3% of cell lines).
This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 11258 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 39 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 87.3% of screened cell lines
- MANE Select transcript:
NM_007234
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2713 |
| Approved symbol | DCTN3 |
| Name | dynactin subunit 3 |
| Location | 9p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DCTN-22 |
| Ensembl gene | ENSG00000137100 |
| Ensembl biotype | protein_coding |
| OMIM | 607387 |
| Entrez | 11258 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 12 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000259632, ENST00000341694, ENST00000378911, ENST00000378913, ENST00000378916, ENST00000421919, ENST00000472074, ENST00000472418, ENST00000477738, ENST00000479399, ENST00000481438, ENST00000888986, ENST00000888987, ENST00000940739, ENST00000962454, ENST00000962455
RefSeq mRNA: 5 — MANE Select: NM_007234
NM_001281425, NM_001281426, NM_001281427, NM_007234, NM_024348
CCDS: CCDS65028, CCDS65029, CCDS6560, CCDS6561
Canonical transcript exons
ENST00000259632 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000832927 | 34616030 | 34616113 |
| ENSE00000832928 | 34617885 | 34617971 |
| ENSE00000832929 | 34618676 | 34618760 |
| ENSE00001190026 | 34620369 | 34620495 |
| ENSE00003521370 | 34614710 | 34614768 |
| ENSE00003566797 | 34614042 | 34614101 |
| ENSE00003850373 | 34613546 | 34613871 |
Expression profiles
Bgee: expression breadth ubiquitous, 298 present calls, max score 98.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 64.2891 / max 245.6869, expressed in 1823 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 100527 | 64.2891 | 1823 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.41 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.16 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.06 | gold quality |
| ventricular zone | UBERON:0003053 | 98.00 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.94 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.80 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.78 | gold quality |
| pituitary gland | UBERON:0000007 | 97.71 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.59 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.59 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.58 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.52 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.44 | gold quality |
| skin of leg | UBERON:0001511 | 97.43 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.42 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.36 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.34 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.27 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.17 | gold quality |
| amygdala | UBERON:0001876 | 97.14 | gold quality |
| parotid gland | UBERON:0001831 | 97.10 | gold quality |
| cerebellum | UBERON:0002037 | 97.10 | gold quality |
| frontal cortex | UBERON:0001870 | 97.05 | gold quality |
| frontal lobe | UBERON:0016525 | 97.05 | gold quality |
| neocortex | UBERON:0001950 | 97.03 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.02 | gold quality |
| monocyte | CL:0000576 | 96.99 | gold quality |
| pons | UBERON:0000988 | 96.98 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.96 | gold quality |
| zone of skin | UBERON:0000014 | 96.95 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.23 |
| E-MTAB-10553 | yes | 7.06 |
| E-MTAB-6379 | no | 427.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
13 targeting DCTN3, 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-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-4312 | 99.34 | 67.30 | 511 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-6780A-3P | 98.42 | 67.49 | 1518 |
| HSA-MIR-7843-3P | 98.31 | 67.94 | 803 |
| HSA-MIR-4684-3P | 98.24 | 69.91 | 1075 |
| HSA-MIR-6728-5P | 97.79 | 66.33 | 891 |
| HSA-MIR-668-3P | 96.18 | 65.80 | 673 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 87.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Study found that in peripheral blood mononuclear cells the median expression of KIFC3, KIF1B, and KIF5C was much lower than the expression of dynactin subunits DCTN1 and DCTN3, in both sporadic amyotrophic lateral sclerosis and healthy cases (PMID:26954557)
- Study on the Prognostic Values of Dynactin Genes in Low-Grade Glioma. (PMID:33896271)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dctn3 | ENSDARG00000041363 |
| mus_musculus | Dctn3 | ENSMUSG00000028447 |
| rattus_norvegicus | Dctn3l1 | ENSRNOG00000081039 |
Protein
Protein identifiers
Dynactin subunit 3 — O75935 (reviewed: O75935)
Alternative names: Dynactin complex subunit 22 kDa subunit
All UniProt accessions (5): A0A0A0MRV8, O75935, X6RA56, X6RCK5, X6RLR1
UniProt curated annotations — full annotation on UniProt →
Function. Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. Together with dynein may be involved in spindle assembly and cytokinesis.
Subunit / interactions. Subunit of dynactin, a multiprotein complex part of a tripartite complex with dynein and a adapter, such as BICDL1, BICD2 or HOOK3. The dynactin complex is built around ACTR1A/ACTB filament and consists of an actin-related filament composed of a shoulder domain, a pointed end and a barbed end. Its length is defined by its flexible shoulder domain. The soulder is composed of 2 DCTN1 subunits, 4 DCTN2 and 2 DCTN3. The 4 DCNT2 (via N-terminus) bind the ACTR1A filament and act as molecular rulers to determine the length. The pointed end is important for binding dynein-dynactin cargo adapters. Consists of 4 subunits: ACTR10, DCNT4, DCTN5 and DCTN6. The barbed end is composed of a CAPZA1:CAPZB heterodimers, which binds ACTR1A/ACTB filament and dynactin and stabilizes dynactin.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Chromosome. Centromere. Kinetochore. Spindle. Cleavage furrow. Midbody.
Tissue specificity. Ubiquitously expressed. Highly expressed in muscle and pancreas and detected at lower levels in brain.
Similarity. Belongs to the dynactin subunit 3 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75935-1 | 1 | yes |
| O75935-2 | 2 | |
| O75935-3 | 3 |
RefSeq proteins (5): NP_001268354, NP_001268355, NP_001268356, NP_009165, NP_077324 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009991 | DCTN3 | Family |
Pfam: PF07426
UniProt features (6 total): splice variant 2, initiator methionine 1, chain 1, coiled-coil region 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9B7J | ELECTRON MICROSCOPY | 3.49 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75935-F1 | 88.58 | 0.53 |
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): 2
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-2132295 | MHC class II antigen presentation |
| R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| R-HSA-3371497 | HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand |
| R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811436 | COPI-independent Golgi-to-ER retrograde traffic |
| R-HSA-8854518 | AURKA Activation by TPX2 |
MSigDB gene sets: 184 (showing top):
RNGTGGGC_UNKNOWN, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MODULE_255, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_317, MODULE_128, REACTOME_MEMBRANE_TRAFFICKING, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CYTOKINESIS, TGCTGAY_UNKNOWN, OCT1_03, chr9p13, GOCC_CENTROSOME
GO Biological Process (4): mitotic cell cycle (GO:0000278), microtubule-based process (GO:0007017), cytoskeleton-dependent cytokinesis (GO:0061640), cell division (GO:0051301)
GO Molecular Function (2): structural molecule activity (GO:0005198), protein binding (GO:0005515)
GO Cellular Component (18): kinetochore (GO:0000776), nucleolus (GO:0005730), centrosome (GO:0005813), spindle (GO:0005819), cytosol (GO:0005829), dynactin complex (GO:0005869), midbody (GO:0030496), cleavage furrow (GO:0032154), perinuclear theca (GO:0033011), perinuclear region of cytoplasm (GO:0048471), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm glycocalyx (GO:0120238), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule associated complex (GO:0005875)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 2 |
| Centrosome maturation | 2 |
| Adaptive Immune System | 1 |
| Cellular responses to stress | 1 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 1 |
| Mitotic Prometaphase | 1 |
| Assembly of the 9+0 primary cilium | 1 |
| ER to Golgi Anterograde Transport | 1 |
| Golgi-to-ER retrograde transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| intracellular membraneless organelle | 5 |
| cellular process | 2 |
| microtubule cytoskeleton | 2 |
| cytoplasm | 2 |
| sperm flagellum | 2 |
| cell cycle | 1 |
| mitotic nuclear division | 1 |
| cytokinesis | 1 |
| molecular_function | 1 |
| binding | 1 |
| condensed chromosome, centromeric region | 1 |
| supramolecular complex | 1 |
| nuclear lumen | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule associated complex | 1 |
| actin cytoskeleton | 1 |
| cell division site | 1 |
| plasma membrane region | 1 |
| cytoskeleton | 1 |
| perinuclear region of cytoplasm | 1 |
| glycocalyx | 1 |
| chromosomal region | 1 |
| intracellular anatomical structure | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1230 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DCTN3 | DCTN1 | Q14203 | 938 |
| DCTN3 | DCTN6 | O00399 | 859 |
| DCTN3 | DCTN2 | Q13561 | 832 |
| DCTN3 | DCTN5 | Q9BTE1 | 773 |
| DCTN3 | ACTR1A | P42024 | 695 |
| DCTN3 | ACTR10 | Q9NZ32 | 689 |
| DCTN3 | DCTN4 | Q9UJW0 | 669 |
| DCTN3 | RPP25L | Q8N5L8 | 609 |
| DCTN3 | FAM219A | Q8IW50 | 584 |
| DCTN3 | ACTR1B | P42025 | 502 |
| DCTN3 | ENHO | Q6UWT2 | 470 |
| DCTN3 | ACTB | P02570 | 444 |
| DCTN3 | CAPZA2 | P47755 | 421 |
| DCTN3 | RBM18 | Q96H35 | 418 |
| DCTN3 | CAPZA1 | P52907 | 417 |
IntAct
98 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| GPS2 | HDAC3 | psi-mi:“MI:0914”(association) | 0.900 |
| DCTN1 | DCTN6 | psi-mi:“MI:0914”(association) | 0.780 |
| DCTN2 | DCTN6 | psi-mi:“MI:0914”(association) | 0.730 |
| DCTN2 | DCTN3 | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| DCTN1 | DCTN3 | psi-mi:“MI:0914”(association) | 0.710 |
| DYNC1I2 | DYNC1LI2 | psi-mi:“MI:0914”(association) | 0.680 |
| CAPZB | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| CAPZA2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| DCTN5 | DCTN6 | psi-mi:“MI:0914”(association) | 0.640 |
| MIS18A | DCTN6 | psi-mi:“MI:0914”(association) | 0.640 |
| DYNC1LI1 | DYNC1LI2 | psi-mi:“MI:0914”(association) | 0.530 |
| ACTBL2 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| CAPZA1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFB127 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS19BP1 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFD | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| DCTN6 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.530 |
| ACTR1A | DCTN3 | psi-mi:“MI:0914”(association) | 0.530 |
| DCTN6 | DCTN3 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (186): DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Proximity Label-MS), DCTN3 (Proximity Label-MS), DCTN3 (Proximity Label-MS), DCTN3 (Affinity Capture-MS), DCTN3 (Affinity Capture-MS)
ESM2 similar proteins: A3LPQ8, C5DMF2, F1SEC0, F4IK01, O75935, O94376, P45966, P47149, P47822, P87310, P97372, Q06213, Q09248, Q09858, Q0P5A1, Q0VIA1, Q16G71, Q1HQF2, Q23679, Q28Y46, Q3ZCF2, Q4R6W4, Q5E9G3, Q5R6P5, Q61BU1, Q63798, Q68RJ5, Q6C5U8, Q6CVN3, Q6DJ25, Q6IP67, Q755V6, Q758M1, Q7K2D2, Q7PZ25, Q8I1C8, Q8I1H7, Q8LDS5, Q949S9, Q95SK3
Diamond homologs: F1SEC0, O75935, Q0P5A1, Q9Z0Y1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 99 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 |
|---|---|---|---|
| COPI-independent Golgi-to-ER retrograde traffic | 12 | 36.1× | 1e-13 |
| HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand | 12 | 33.7× | 1e-13 |
| COPI-mediated anterograde transport | 12 | 19.1× | 8e-11 |
| MHC class II antigen presentation | 14 | 18.1× | 3e-12 |
| Aggrephagy | 5 | 18.0× | 1e-04 |
| Loss of Nlp from mitotic centrosomes | 7 | 16.1× | 7e-06 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 7 | 16.1× | 7e-06 |
| AURKA Activation by TPX2 | 7 | 15.4× | 8e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitotic spindle organization | 5 | 15.6× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1150 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:34617879:CATTA:C | donor_loss | 1.0000 |
| 9:34617880:ATTAC:A | donor_loss | 1.0000 |
| 9:34617881:TTA:T | donor_loss | 1.0000 |
| 9:34617882:TACCT:T | donor_loss | 1.0000 |
| 9:34617883:A:C | donor_loss | 1.0000 |
| 9:34617884:C:CG | donor_loss | 1.0000 |
| 9:34617884:CCTG:C | donor_gain | 1.0000 |
| 9:34617967:TTCAA:T | acceptor_gain | 1.0000 |
| 9:34617968:TCAA:T | acceptor_gain | 1.0000 |
| 9:34617969:CAA:C | acceptor_gain | 1.0000 |
| 9:34617969:CAAC:C | acceptor_gain | 1.0000 |
| 9:34617970:AA:A | acceptor_gain | 1.0000 |
| 9:34617970:AAC:A | acceptor_loss | 1.0000 |
| 9:34617971:ACTA:A | acceptor_loss | 1.0000 |
| 9:34617972:C:CC | acceptor_gain | 1.0000 |
| 9:34617980:G:C | acceptor_gain | 1.0000 |
| 9:34617980:G:GC | acceptor_gain | 1.0000 |
| 9:34617985:A:T | acceptor_gain | 1.0000 |
| 9:34618672:TTA:T | donor_loss | 1.0000 |
| 9:34618673:TA:T | donor_loss | 1.0000 |
| 9:34618674:A:AC | donor_gain | 1.0000 |
| 9:34618674:ACT:A | donor_gain | 1.0000 |
| 9:34618675:C:CT | donor_gain | 1.0000 |
| 9:34618675:CT:C | donor_gain | 1.0000 |
| 9:34618675:CTC:C | donor_gain | 1.0000 |
| 9:34618675:CTCT:C | donor_gain | 1.0000 |
| 9:34618675:CTCTT:C | donor_gain | 1.0000 |
| 9:34618756:GCCAC:G | acceptor_gain | 1.0000 |
| 9:34618757:CCAC:C | acceptor_gain | 1.0000 |
| 9:34618757:CCACC:C | acceptor_gain | 1.0000 |
AlphaMissense
1204 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:34613841:A:G | W168R | 0.994 |
| 9:34613841:A:T | W168R | 0.994 |
| 9:34613849:A:G | F165S | 0.983 |
| 9:34613859:A:G | S162P | 0.982 |
| 9:34617950:A:G | L68P | 0.982 |
| 9:34617962:A:G | L64P | 0.981 |
| 9:34614053:A:C | Y154D | 0.978 |
| 9:34618704:C:A | R51S | 0.977 |
| 9:34618704:C:G | R51S | 0.977 |
| 9:34614053:A:G | Y154H | 0.976 |
| 9:34613839:C:A | W168C | 0.974 |
| 9:34613839:C:G | W168C | 0.974 |
| 9:34614744:A:G | L126P | 0.972 |
| 9:34613861:A:G | L161P | 0.969 |
| 9:34613848:G:C | F165L | 0.968 |
| 9:34613848:G:T | F165L | 0.968 |
| 9:34613850:A:G | F165L | 0.968 |
| 9:34614052:T:G | Y154S | 0.968 |
| 9:34618698:C:A | R53S | 0.967 |
| 9:34618698:C:G | R53S | 0.967 |
| 9:34617893:A:T | I87N | 0.965 |
| 9:34614714:T:G | Q136P | 0.964 |
| 9:34618696:A:T | V54E | 0.964 |
| 9:34614061:A:G | L151P | 0.961 |
| 9:34613828:A:G | L172P | 0.959 |
| 9:34613861:A:T | L161H | 0.954 |
| 9:34616080:A:G | L101P | 0.954 |
| 9:34617904:C:A | K83N | 0.954 |
| 9:34617904:C:G | K83N | 0.954 |
| 9:34618681:T:A | K59I | 0.954 |
dbSNP variants (sampled 300 via entrez): RS1001062661 (9:34618484 T>C), RS1001760727 (9:34616366 T>C), RS1002036972 (9:34615607 G>A), RS1002330887 (9:34616733 G>A), RS1002741828 (9:34620236 G>A), RS1003030642 (9:34614845 G>A), RS1003074463 (9:34615017 T>G), RS1003193049 (9:34620154 G>A), RS1003801732 (9:34613216 G>T), RS1004324586 (9:34613608 G>A), RS1004918399 (9:34617191 T>C), RS1005169515 (9:34618918 C>G), RS1005274554 (9:34616971 G>A,T), RS1005508062 (9:34617138 G>A), RS1005576968 (9:34614149 T>A)
Disease associations
OMIM: gene MIM:607387 | 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 |
|---|---|---|
| GCST90000025_469 | Appendicular lean mass | 1.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067000 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 4 |
| bisphenol A | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | increases abundance, decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651246 | Binding | Binding affinity to human DCTN3 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.