DCTN5
geneOn this page
Also known as MGC3248p25
Summary
DCTN5 (dynactin subunit 5, HGNC:24594) is a protein-coding gene on chromosome 16p12.2, encoding Dynactin subunit 5 (Q9BTE1). Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. It is a common-essential gene (DepMap: required in 98.6% of cancer cell lines).
This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 84516 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 31 total
- Cancer dependency (DepMap): dependent in 98.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032486
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24594 |
| Approved symbol | DCTN5 |
| Name | dynactin subunit 5 |
| Location | 16p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC3248, p25 |
| Ensembl gene | ENSG00000166847 |
| Ensembl biotype | protein_coding |
| OMIM | 612962 |
| Entrez | 84516 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000300087, ENST00000563188, ENST00000563614, ENST00000563998, ENST00000566053, ENST00000566298, ENST00000568272, ENST00000568589, ENST00000859652, ENST00000911404
RefSeq mRNA: 3 — MANE Select: NM_032486
NM_001199011, NM_001199743, NM_032486
CCDS: CCDS10615, CCDS58435, CCDS58436
Canonical transcript exons
ENST00000300087 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001107205 | 23642955 | 23643023 |
| ENSE00001638373 | 23667047 | 23677472 |
| ENSE00001830153 | 23641466 | 23641590 |
| ENSE00003491988 | 23661170 | 23661281 |
| ENSE00003559417 | 23665626 | 23665728 |
| ENSE00003597195 | 23658507 | 23658625 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 95.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.4462 / max 354.5567, expressed in 1818 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 153162 | 28.5025 | 1816 |
| 153161 | 2.9436 | 1464 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 95.83 | gold quality |
| rectum | UBERON:0001052 | 94.24 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.97 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.45 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.49 | gold quality |
| monocyte | CL:0000576 | 92.46 | gold quality |
| leukocyte | CL:0000738 | 92.43 | gold quality |
| mononuclear cell | CL:0000842 | 92.37 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.33 | gold quality |
| cortical plate | UBERON:0005343 | 91.98 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.92 | gold quality |
| lymph node | UBERON:0000029 | 91.63 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.43 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.37 | gold quality |
| esophagus | UBERON:0001043 | 91.31 | gold quality |
| skin of leg | UBERON:0001511 | 91.26 | gold quality |
| gall bladder | UBERON:0002110 | 91.15 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.97 | gold quality |
| granulocyte | CL:0000094 | 90.96 | gold quality |
| vermiform appendix | UBERON:0001154 | 90.37 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.37 | gold quality |
| pancreas | UBERON:0001264 | 90.20 | gold quality |
| lower esophagus | UBERON:0013473 | 90.09 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.09 | gold quality |
| popliteal artery | UBERON:0002250 | 90.04 | gold quality |
| tibial artery | UBERON:0007610 | 90.03 | gold quality |
| bone marrow cell | CL:0002092 | 90.02 | gold quality |
| tonsil | UBERON:0002372 | 90.01 | gold quality |
| muscle of leg | UBERON:0001383 | 89.98 | gold quality |
| artery | UBERON:0001637 | 89.85 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.17 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
167 targeting DCTN5, 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-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.6% of screened cell lines, common-essential.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dctn5 | ENSDARG00000003573 |
| mus_musculus | Dctn5 | ENSMUSG00000030868 |
| rattus_norvegicus | Dctn5 | ENSRNOG00000018048 |
| drosophila_melanogaster | DCTN5-p25 | FBGN0040228 |
| caenorhabditis_elegans | dnc-5 | WBGENE00022118 |
Protein
Protein identifiers
Dynactin subunit 5 — Q9BTE1 (reviewed: Q9BTE1)
Alternative names: Dynactin subunit p25
All UniProt accessions (5): Q9BTE1, H3BR94, H3BS05, H3BUD2, I3L0U8
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.
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. Within the complex DCTN6 forms a heterodimer with DCTN5. The barbed end is composed of a CAPZA1:CAPZB heterodimers, which binds ACTR1A/ACTB filament and dynactin and stabilizes dynactin. Interacts with N4BP2L1.
Subcellular location. Cytoplasm. Cytoskeleton. Chromosome. Centromere. Kinetochore.
Similarity. Belongs to the dynactin subunits 5/6 family. Dynactin subunit 5 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BTE1-1 | 1 | yes |
| Q9BTE1-2 | 2 | |
| Q9BTE1-3 | 3 |
RefSeq proteins (3): NP_001185940, NP_001186672, NP_115875* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011004 | Trimer_LpxA-like_sf | Homologous_superfamily |
| IPR047125 | DCTN5 | Family |
Pfam: PF21711
UniProt features (4 total): splice variant 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9B85 | ELECTRON MICROSCOPY | 3.47 |
| 9B7J | ELECTRON MICROSCOPY | 3.49 |
| 5NW4 | ELECTRON MICROSCOPY | 8.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BTE1-F1 | 81.84 | 0.33 |
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): 1
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-2132295 | MHC class II antigen presentation |
| R-HSA-3371497 | HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811436 | COPI-independent Golgi-to-ER retrograde traffic |
MSigDB gene sets: 185 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, ELVIDGE_HYPOXIA_DN, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, TSENG_IRS1_TARGETS_UP, TGCGCANK_UNKNOWN, GOBP_CORONARY_VASCULATURE_DEVELOPMENT, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_ARTERY_DEVELOPMENT, REACTOME_MEMBRANE_TRAFFICKING, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_AORTA_DEVELOPMENT, CTAGGAA_MIR384, GOCC_CENTROSOME, GOBP_CARDIAC_VENTRICLE_DEVELOPMENT, GOBP_VENTRICULAR_SEPTUM_DEVELOPMENT
GO Biological Process (3): ventricular septum development (GO:0003281), aorta development (GO:0035904), coronary vasculature development (GO:0060976)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (10): kinetochore (GO:0000776), nucleoplasm (GO:0005654), centrosome (GO:0005813), cytosol (GO:0005829), dynactin complex (GO:0005869), nuclear membrane (GO:0031965), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Cellular responses to stress | 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 |
|---|---|
| intracellular membraneless organelle | 3 |
| cellular anatomical structure | 3 |
| cardiac ventricle development | 1 |
| cardiac septum development | 1 |
| artery development | 1 |
| blood vessel development | 1 |
| heart development | 1 |
| binding | 1 |
| condensed chromosome, centromeric region | 1 |
| supramolecular complex | 1 |
| nuclear lumen | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| microtubule associated complex | 1 |
| actin cytoskeleton | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| chromosomal region | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1688 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DCTN5 | DCTN4 | Q9UJW0 | 964 |
| DCTN5 | DCTN6 | O00399 | 953 |
| DCTN5 | ACTR10 | Q9NZ32 | 936 |
| DCTN5 | DYNC1H1 | Q14204 | 910 |
| DCTN5 | ACTR3C | Q9C0K3 | 858 |
| DCTN5 | ACTR3B | Q9P1U1 | 838 |
| DCTN5 | DCTN1 | Q14203 | 822 |
| DCTN5 | DCTN3 | O75935 | 773 |
| DCTN5 | CAPZA2 | P47755 | 749 |
| DCTN5 | CAPZA1 | P52907 | 743 |
| DCTN5 | DCTN2 | Q13561 | 743 |
| DCTN5 | DISC1 | Q9NRI5 | 712 |
| DCTN5 | ACTR1A | P42024 | 652 |
| DCTN5 | UBFD1 | O14562 | 603 |
| DCTN5 | TMOD4 | Q9NZQ9 | 583 |
IntAct
82 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| 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 |
| CCDC120 | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| MIS18A | DCTN6 | psi-mi:“MI:0914”(association) | 0.640 |
| DCTN5 | DCTN6 | psi-mi:“MI:0914”(association) | 0.640 |
| CAPZA2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| BCL7A | ARID1A | psi-mi:“MI:0914”(association) | 0.640 |
| DCTN5 | RBPMS | psi-mi:“MI:0915”(physical association) | 0.560 |
| FATE1 | DCTN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBPMS | DCTN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Dctn2 | DCTN6 | psi-mi:“MI:0914”(association) | 0.560 |
| DYNLL1 | DCTN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| INAVA | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| UQCRH | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFB127 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| DCTN6 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.530 |
| DYNC1LI1 | DYNC1LI2 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFD | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (140): DCTN5 (Two-hybrid), FATE1 (Two-hybrid), DCTN5 (Affinity Capture-MS), DCTN5 (Affinity Capture-MS), DCTN5 (Affinity Capture-MS), DCTN5 (Affinity Capture-MS), DCTN5 (Two-hybrid), DCTN5 (Co-fractionation), DCTN5 (Co-fractionation), DCTN5 (Co-fractionation), DCTN5 (Co-fractionation), DCTN5 (Co-fractionation), DCTN5 (Proximity Label-MS), DCTN5 (Affinity Capture-MS), DCTN5 (Affinity Capture-MS)
ESM2 similar proteins: A0A286ZK88, A1L1L6, A7MB28, A8WGF4, B8BJ39, D0G6S1, O00399, O54956, P11029, P11497, Q13085, Q148G7, Q28007, Q28943, Q28DR7, Q2HJF8, Q2RAK2, Q4R4U1, Q502J7, Q5FVD6, Q5R559, Q5R5F8, Q5R7D8, Q5R8Q7, Q5SWU9, Q5ZIT8, Q5ZM73, Q6AYR2, Q6NVC5, Q6NWV3, Q6P1X5, Q6PC62, Q7TPD1, Q7TSL3, Q86XK2, Q8BG51, Q8BH44, Q8C176, Q8CHR6, Q8IWZ6
Diamond homologs: A0A286ZK88, Q54XU5, Q5R559, Q9BTE1, Q9QZB9, Q54JC2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 67 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 | 10 | 47.2× | 2e-12 |
| HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand | 10 | 44.0× | 2e-12 |
| Loss of Nlp from mitotic centrosomes | 7 | 25.2× | 5e-07 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 7 | 25.2× | 5e-07 |
| COPI-mediated anterograde transport | 10 | 25.0× | 4e-10 |
| AURKA Activation by TPX2 | 7 | 24.2× | 5e-07 |
| MHC class II antigen presentation | 11 | 22.3× | 1e-10 |
| Recruitment of mitotic centrosome proteins and complexes | 7 | 21.6× | 1e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
919 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:23641574:C:G | donor_gain | 1.0000 |
| 16:23641605:A:AG | donor_gain | 1.0000 |
| 16:23641605:A:G | donor_gain | 1.0000 |
| 16:23658497:C:A | acceptor_gain | 1.0000 |
| 16:23658502:TACAG:T | acceptor_loss | 1.0000 |
| 16:23658504:C:G | acceptor_gain | 1.0000 |
| 16:23658504:CA:C | acceptor_loss | 1.0000 |
| 16:23658505:A:AG | acceptor_gain | 1.0000 |
| 16:23658505:A:AT | acceptor_loss | 1.0000 |
| 16:23658506:G:GA | acceptor_gain | 1.0000 |
| 16:23658506:G:T | acceptor_loss | 1.0000 |
| 16:23658506:GA:G | acceptor_gain | 1.0000 |
| 16:23658506:GAC:G | acceptor_gain | 1.0000 |
| 16:23658506:GACC:G | acceptor_gain | 1.0000 |
| 16:23658506:GACCA:G | acceptor_gain | 1.0000 |
| 16:23658622:AAGG:A | donor_gain | 1.0000 |
| 16:23658623:AGG:A | donor_gain | 1.0000 |
| 16:23658624:GG:G | donor_gain | 1.0000 |
| 16:23658624:GGG:G | donor_gain | 1.0000 |
| 16:23658625:GG:G | donor_gain | 1.0000 |
| 16:23658626:G:GG | donor_gain | 1.0000 |
| 16:23658626:GTAT:G | donor_loss | 1.0000 |
| 16:23661168:A:AG | acceptor_gain | 1.0000 |
| 16:23661169:G:GG | acceptor_gain | 1.0000 |
| 16:23661169:GT:G | acceptor_gain | 1.0000 |
| 16:23661169:GTGTT:G | acceptor_gain | 1.0000 |
| 16:23661282:G:GG | donor_gain | 1.0000 |
| 16:23641527:G:T | donor_gain | 0.9900 |
| 16:23641574:C:CG | donor_gain | 0.9900 |
| 16:23641578:G:GG | donor_gain | 0.9900 |
AlphaMissense
1193 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:23642966:C:A | N20K | 1.000 |
| 16:23642966:C:G | N20K | 1.000 |
| 16:23642995:G:A | G30E | 1.000 |
| 16:23643007:T:A | I34N | 1.000 |
| 16:23643013:T:A | L36H | 1.000 |
| 16:23643019:G:A | G38D | 1.000 |
| 16:23643019:G:T | G38V | 1.000 |
| 16:23658527:T:G | C46W | 1.000 |
| 16:23658535:G:C | R49P | 1.000 |
| 16:23658537:G:A | G50R | 1.000 |
| 16:23658537:G:C | G50R | 1.000 |
| 16:23658537:G:T | G50W | 1.000 |
| 16:23658538:G:A | G50E | 1.000 |
| 16:23658538:G:T | G50V | 1.000 |
| 16:23658540:G:C | D51H | 1.000 |
| 16:23658541:A:C | D51A | 1.000 |
| 16:23658541:A:G | D51G | 1.000 |
| 16:23658541:A:T | D51V | 1.000 |
| 16:23658544:T:C | L52P | 1.000 |
| 16:23658561:G:A | G58R | 1.000 |
| 16:23658561:G:C | G58R | 1.000 |
| 16:23658562:G:A | G58E | 1.000 |
| 16:23658562:G:T | G58V | 1.000 |
| 16:23658571:G:A | C61Y | 1.000 |
| 16:23658572:T:G | C61W | 1.000 |
| 16:23658592:T:A | V68D | 1.000 |
| 16:23658595:T:A | I69K | 1.000 |
| 16:23658601:C:A | P71Q | 1.000 |
| 16:23658601:C:G | P71R | 1.000 |
| 16:23658611:G:C | K74N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000056366 (16:23674582 C>T), RS1000129476 (16:23674222 G>A,T), RS1000145194 (16:23651534 A>G), RS1000390154 (16:23641675 C>A,T), RS1000403894 (16:23664770 C>G,T), RS1000429192 (16:23673700 T>G), RS1000483663 (16:23673924 C>T), RS1000488889 (16:23647518 T>G), RS1000542285 (16:23647240 C>A,T), RS1000752219 (16:23653016 C>T), RS1000776908 (16:23642706 T>A,G), RS1001007313 (16:23666095 C>T), RS1001031275 (16:23662274 A>C), RS1001057535 (16:23676050 G>A), RS1001193979 (16:23652325 G>A,C)
Disease associations
OMIM: gene MIM:612962 | disease phenotypes: MIM:114480, MIM:114500, MIM:610832, MIM:613348, MIM:620442
GenCC curated gene-disease
Mondo (7): hereditary breast carcinoma (MONDO:0016419), hereditary breast ovarian cancer syndrome (MONDO:0003582), colorectal cancer (MONDO:0005575), Fanconi anemia complementation group N (MONDO:0012565), pancreatic cancer, susceptibility to, 3 (MONDO:0013236), hereditary neoplastic syndrome (MONDO:0015356), breast-ovarian cancer, familial, susceptibility to, 5 (MONDO:0957530)
Orphanet (6): Hereditary breast cancer (Orphanet:227535), Familial pancreatic carcinoma (Orphanet:1333), Inherited cancer-predisposing syndrome (Orphanet:140162), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Fanconi anemia (Orphanet:84), NON RARE IN EUROPE: Colorectal cancer (Orphanet:466667)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000044_5 | Bipolar disorder | 6.000000e-08 |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D061325 | Hereditary Breast and Ovarian Cancer Syndrome | C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431 |
| D009386 | Neoplastic Syndromes, Hereditary | C04.700; C16.320.700 |
| C562840 | Breast Cancer, Familial (supp.) | |
| C563657 | Fanconi Anemia, Complementation Group N (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, affects cotreatment | 4 |
| Nickel | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | decreases expression, increases activity, affects binding | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| torcetrapib | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Gasoline | decreases expression, increases abundance, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| tert-Butylhydroperoxide | decreases methylation | 1 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02562170 | PHASE4 | COMPLETED | Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study |
| NCT00114829 | PHASE4 | UNKNOWN | Preoperative Assessment of Colon Tumor |
| NCT00114842 | PHASE4 | COMPLETED | Magnetic Resonance (MR) Colonography With Fecal Tagging |
| NCT00114946 | PHASE4 | TERMINATED | A Study to Compare Two Avastin-Based Treatment Regimens for the Treatment of Metastatic Colorectal Cancer |
| NCT00122720 | PHASE4 | COMPLETED | The Effect of Darbepoetin Upon Rehabilitation for Colorectal Cancer Surgery |
| NCT00129870 | PHASE4 | TERMINATED | CONCEPT: Comparison of Oxaliplatin vs Conventional Methods With Calcium/Magnesium in First-Line Metastatic Colorectal Cancer |
| NCT00138060 | PHASE4 | COMPLETED | Toxicity/Benefit Ratio Optimization of Chemotherapy in Colorectal Cancer (CRC) Patients by Determination of Individual Genotypic Determinants |
| NCT00216424 | PHASE4 | TERMINATED | Capecitabine (Xeloda) and Radiation for Patients With Rectosigmoid Carcinoma |
| NCT00327093 | PHASE4 | TERMINATED | Elaboration of a Model for Predicting Efficacy of Monoclonal Antibodies (Cetuximab and Bevacizumab) in Patients With Colorectal Cancer and Liver Metastases |
| NCT00332943 | PHASE4 | COMPLETED | MR Colonography With Fecal Tagging. Barium vs. BariumFerumoxsil |
| NCT00441311 | PHASE4 | COMPLETED | Dissemination of Colorectal Cancer Screening to Primary Care Physicians |
| NCT00460837 | PHASE4 | WITHDRAWN | Comparison of Bowel Preparation in Virtual Colonoscopy (VC) - Patient Experience |
| NCT00473980 | PHASE4 | COMPLETED | Preoperative Non-steroidal Anti-inflammatory Drugs(NSAID) to Colorectal Cancer Patients |
| NCT00488904 | PHASE4 | COMPLETED | Omega-3 Fatty Acids and Postoperative Complications After Colorectal Surgery |
| NCT00496678 | PHASE4 | COMPLETED | Trial of Patient Navigation-Activation |
| NCT00502671 | PHASE4 | COMPLETED | A Study of Xeloda (Capecitabine) as Adjuvant Monotherapy in Patients With Colon Cancer. |
| NCT00559676 | PHASE4 | COMPLETED | Study of Biomarkers in Patients Undergoing Chemotherapy for Metastatic Colorectal Cancer |
| NCT00577031 | PHASE4 | COMPLETED | OBELIX Study: A Study of Avastin (Bevacizumab) in Combination With XELOX in Patients With Metastatic Cancer of the Colon or Rectum. |
| NCT00626054 | PHASE4 | COMPLETED | Comparison of Two Methods of Administration of a PEG Solution |
| NCT00812864 | PHASE4 | COMPLETED | Pharmacokinetic Study of Capecitabine in Elderly Cancer Patient (≥ 75 Years) |
| NCT00868569 | PHASE4 | UNKNOWN | Transhepatic Arterial Chemotherapy (TAC) Versus Transcatheter Arterial Chemoembolization (TACE) Plus Folfox4 as the Treatment of Unresectable Liver Metastasis of Colorectal Cancer |
| NCT00868816 | PHASE4 | COMPLETED | Oxaliplatine Based Adjuvant Chemotherapy for Stage II/III Colorectal Cancer: 8 Cycles Versus 12 Cycles |
| NCT00874406 | PHASE4 | UNKNOWN | Preoperative Transhepatic Arterial Chemotherapy (TAC) in the Treatment of Liver Metastasis of Resectable Colorectal Cancer |
| NCT00928928 | PHASE4 | COMPLETED | Oxidative Stress Markers in Open and Laparoscopic Colectomy for Cancer |
| NCT00942461 | PHASE4 | COMPLETED | Inflammatory Response in Laparoscopic and Open Colectomy |
| NCT01023633 | PHASE4 | UNKNOWN | OPTIMOX1 in Chinese mCRC Patients |
| NCT01271582 | PHASE4 | UNKNOWN | Investigation of Association Between UGT1A1 Polymorphisms and Irinotecan Toxicity in Korean Patients |
| NCT01315990 | PHASE4 | UNKNOWN | FOLFIRI in Combination With Cetuximab in the First-line Treatment of Metastatic Colorectal Cancer Including a Regular Dermal Prophylaxis to Prevent Acneiforme Follicular Exanthema |
| NCT01493713 | PHASE4 | COMPLETED | Correlation Between RECIST, Morphologic Response by CT- Histopathologic Response in Hepatic Metastasis Secondary to Colorectal Cancer |
| NCT01609660 | PHASE4 | COMPLETED | Impact of Probiotics on the Intestinal Microbiota |
| NCT01641458 | PHASE4 | COMPLETED | Pharmacology-driven Dosing of Fluoropyrimidines in Cancer Patients |
| NCT01689792 | PHASE4 | COMPLETED | A Multi-centre Study Comparing the Polyp Detection Rate of Two Different Types of Bowel Preparation: a 2-litre Solution (MOVIPREP®) Versus a Hyperosmotic and Stimulant Combined Low Volume Bowel Preparation (Sodium Picosulfate and Magnesium Citrate) |
| NCT01695772 | PHASE4 | COMPLETED | A Study of Bevacizumab Plus 5-Flurouracil (5-FU) Based Doublet Chemotherapy as Neoadjuvant Therapy for Participants With Previously Untreated Unresectable Liver-Only Metastases From Colorectal Cancer |
| NCT01695863 | PHASE4 | COMPLETED | Efficacy and Patient Satisfaction of Miralax and Gatorade Versus Movi Prep |
| NCT01706822 | PHASE4 | TERMINATED | Radial Reload Laparoscopic LAR Case Series |
| NCT01740947 | PHASE4 | TERMINATED | Does Administration of Antibiotics in Patients Undergoing Surgery for Colorectal Cancer Result in Less Complications and Better Prognosis? |
| NCT01831310 | PHASE4 | COMPLETED | Nutrition for Colorectal Cancer Patients and Neutrophil Functions |
| NCT01841294 | PHASE4 | UNKNOWN | NK Activity Modulation Induced by Intravenous Lidocaine During Colorectal Laparoscopic Surgery |
| NCT01959061 | PHASE4 | UNKNOWN | Efficacy and Safety of Raltitrexed-based Transarterial Chemoembolisation(TACE)for Colorectal Cancer Liver Metastases |
| NCT02032953 | PHASE4 | UNKNOWN | Enhancing the Anabolic Effect of Perioperative Nutrition With Insulin While Maintaining Normoglycemia |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast-ovarian cancer, familial, susceptibility to, 5, Fanconi anemia complementation group N, hereditary breast carcinoma, hereditary breast ovarian cancer syndrome, hereditary neoplastic syndrome, pancreatic cancer, susceptibility to, 3