DCC
geneOn this page
Also known as IGDCC1NTN1R1
Summary
DCC (DCC netrin 1 receptor, HGNC:2701) is a protein-coding gene on chromosome 18q21.2, encoding Netrin receptor DCC (P43146). Receptor for netrin required for axon guidance.
This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma.
Source: NCBI Gene 1630 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mirror movements 1 and/or agenesis of the corpus callosum (Definitive, ClinGen) — +7 more curated relationships
- GWAS associations: 108
- Clinical variants (ClinVar): 355 total — 36 pathogenic, 17 likely-pathogenic
- Phenotypes (HPO): 93
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 5 cancer types
- MANE Select transcript:
NM_005215
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2701 |
| Approved symbol | DCC |
| Name | DCC netrin 1 receptor |
| Location | 18q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IGDCC1, NTN1R1 |
| Ensembl gene | ENSG00000187323 |
| Ensembl biotype | protein_coding |
| OMIM | 120470 |
| Entrez | 1630 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 6 protein_coding, 6 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 2 retained_intron
ENST00000304775, ENST00000442544, ENST00000577224, ENST00000578080, ENST00000578949, ENST00000579349, ENST00000579666, ENST00000579702, ENST00000579883, ENST00000579941, ENST00000580024, ENST00000580146, ENST00000581559, ENST00000581580, ENST00000582595, ENST00000582875, ENST00000584710
RefSeq mRNA: 1 — MANE Select: NM_005215
NM_005215
CCDS: CCDS11952
Canonical transcript exons
ENST00000442544 — 29 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001128867 | 53526617 | 53526759 |
| ENSE00001128875 | 53499298 | 53499510 |
| ENSE00001128881 | 53486797 | 53486958 |
| ENSE00001128886 | 53467894 | 53468010 |
| ENSE00001128891 | 53459232 | 53459458 |
| ENSE00001128898 | 53450500 | 53450662 |
| ENSE00001128905 | 53435144 | 53435209 |
| ENSE00001128911 | 53416124 | 53416156 |
| ENSE00001128938 | 53391655 | 53391887 |
| ENSE00001128943 | 53386043 | 53386138 |
| ENSE00001128947 | 53339713 | 53339907 |
| ENSE00001128958 | 53305578 | 53305719 |
| ENSE00001128975 | 53207679 | 53207817 |
| ENSE00001128981 | 53205216 | 53205364 |
| ENSE00001128990 | 53178962 | 53179116 |
| ENSE00001129712 | 52923707 | 52923857 |
| ENSE00001268586 | 53530564 | 53535899 |
| ENSE00001311322 | 52752054 | 52752374 |
| ENSE00001314237 | 53157356 | 53157512 |
| ENSE00001322608 | 52340197 | 52340878 |
| ENSE00001326743 | 53322047 | 53322157 |
| ENSE00001344756 | 53215548 | 53215597 |
| ENSE00003467698 | 53397308 | 53397446 |
| ENSE00003489697 | 53066046 | 53066166 |
| ENSE00003493865 | 53063305 | 53063459 |
| ENSE00003535823 | 52925234 | 52925370 |
| ENSE00003675049 | 53410452 | 53410646 |
| ENSE00003676694 | 53402786 | 53402893 |
| ENSE00003734028 | 52906044 | 52906328 |
Expression profiles
Bgee: expression breadth ubiquitous, 154 present calls, max score 91.49.
FANTOM5 (CAGE): breadth broad, TPM avg 3.3488 / max 218.7221, expressed in 323 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170282 | 1.6430 | 254 |
| 170281 | 0.8416 | 218 |
| 170285 | 0.3386 | 127 |
| 170284 | 0.1306 | 79 |
| 170280 | 0.1298 | 79 |
| 170278 | 0.1147 | 65 |
| 170283 | 0.0938 | 68 |
| 170279 | 0.0292 | 12 |
| 170291 | 0.0275 | 3 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 91.49 | gold quality |
| right testis | UBERON:0004534 | 86.93 | gold quality |
| left testis | UBERON:0004533 | 86.41 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.40 | gold quality |
| testis | UBERON:0000473 | 82.83 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.82 | gold quality |
| prefrontal cortex | UBERON:0000451 | 70.41 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 69.28 | silver quality |
| nucleus accumbens | UBERON:0001882 | 69.15 | gold quality |
| primary visual cortex | UBERON:0002436 | 69.02 | gold quality |
| caudate nucleus | UBERON:0001873 | 68.92 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 67.08 | gold quality |
| sperm | CL:0000019 | 67.03 | silver quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 66.99 | gold quality |
| sural nerve | UBERON:0015488 | 66.94 | gold quality |
| putamen | UBERON:0001874 | 66.91 | gold quality |
| cerebral cortex | UBERON:0000956 | 66.89 | gold quality |
| Ammon’s horn | UBERON:0001954 | 66.77 | gold quality |
| frontal cortex | UBERON:0001870 | 66.61 | gold quality |
| frontal lobe | UBERON:0016525 | 66.60 | gold quality |
| neocortex | UBERON:0001950 | 66.46 | gold quality |
| ventricular zone | UBERON:0003053 | 65.91 | gold quality |
| entorhinal cortex | UBERON:0002728 | 65.90 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 65.54 | silver quality |
| colonic epithelium | UBERON:0000397 | 65.24 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 64.90 | gold quality |
| forebrain | UBERON:0001890 | 64.87 | gold quality |
| occipital lobe | UBERON:0002021 | 64.37 | gold quality |
| hypothalamus | UBERON:0001898 | 63.87 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-30 | yes | 1776.86 |
| E-CURD-119 | yes | 1423.60 |
| E-GEOD-131882 | yes | 1362.32 |
| E-HCAD-25 | yes | 1319.95 |
| E-GEOD-93593 | yes | 661.07 |
| E-HCAD-56 | yes | 659.08 |
| E-HCAD-35 | yes | 75.62 |
| E-ANND-3 | yes | 6.70 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): BCL11A, E2F1, PBX1, SATB2, SOX9, TFAP2A, TP53
miRNA regulators (miRDB)
202 targeting DCC, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
Literature-anchored findings (GeneRIF, showing 40)
- Altered expression of DCC protein is detectable in gastric carcinomas, an event that may have a role in the development of the disease. (PMID:11518545)
- The netrin-1 receptor DCC promotes filopodia formation and cell spreading by activating Cdc42 and Rac1. (PMID:11817894)
- Loss of dcc gene expression is associated with acute myelogenous leukemia (PMID:12060632)
- loss of DCC expression occurs in some colon adenomas, but is insufficient to drive the adenoma to carcinoma progression. (PMID:12432238)
- data suggest that the codon 201 polymorphism of the DCC gene was a target of LOH, and predicted prognosis in colorectal cancer patients (PMID:12787729)
- DCC binds to netrin, which regulates its interactions with heparin (PMID:12810718)
- Prognostic significance of the DCC gene protein expression in high-risk resected gastric carcinoma (PMID:12901278)
- Deletions in this gene are found in colorectal and gastric cancers (PMID:12901294)
- Multiple aberrations involving the DCC locus may play a role in the progression of nephroblastomas, and hence confer a poorer prognosis. (PMID:14631365)
- DCC/netrin-1 signaling may commit cells to the transition of endometrial gland architecture or function from a proliferating to a secretory phase. (PMID:15491747)
- Binding of netrin-1 to its receptors inhibits tumour suppressor p53-dependent apoptosis (review) (PMID:15573119)
- DCC binds netrin through the fourth fibronectin type III domain. (PMID:15574733)
- DCC expression appears not to be predictive in poor survival outcome in patients with stage II or III colorectal cancer. (PMID:15722793)
- DCC in both commissural neurons and immortalized cells, is partially associated with cholesterol- and sphingolipid-enriched membrane domains named lipid rafts. (PMID:15811950)
- The present study points to a potential influence of folates in regulating DCC expression at multiple levels involving post-transcriptional pathways. (PMID:16122883)
- the localization of DCC to lipid rafts is a prerequisite for its proapoptotic activity, both in immortalized cells and in primary neurons (PMID:16537496)
- Finds a linkage between the chromosome 18 near marker D18S851 at the third time point and the levels of HDL cholesterol in human males. (PMID:16715837)
- Results suggest that DCC could regulate cell adhesion and migration through its association with ERM-M (ezrin/radixin/moesin and merlin) proteins. (PMID:16762451)
- Patients with low nuclear DCC expression had a 3-year progression-free survival (PFS) rate of 0% compared with 33% of those with high DCC expression (P = 0.0067). (PMID:16971669)
- DCC is a putative conditional tumor-suppressor gene that is epigenetically inactivated by promoter hypermethylation in a majority of head-and-neck squamous cell carcinomas. (PMID:17018594)
- Overexpression of the DDC gene in the LNCaP prostate cancer cell line leads to differential expression of a total of 35 genes. (PMID:17553164)
- study provides evidence that most colorectal cancers have alterations in both UNC5C and DCC netrin receptors; while UNC5C expression is regulated primarily via epigenetic regulation, DCC defects are mediated through allelic deletions (PMID:18054557)
- DCC methylation is a frequent and cancer-specific event in primary ESCCs (esophageal squamous cell carcinoma), suggesting that DCC and associated pathways may represent a new diagnostical therapeutic target. (PMID:18302152)
- DCC can be found in raft and non-raft portions of the plasma membrane. (PMID:18616430)
- the transcriptionally active TAp73alpha tumor suppressor is implicated in the apoptosis induced by netrin-1 in a p53-independent and DCC/ubiquitin-proteasome dependent manner. (PMID:18922894)
- Aberrant methylation of the netrin-1 receptor genes UNC5C and DCC detected in advanced colorectal cancer. (PMID:19242752)
- Treatment with the demethylating agent 5-aza-2’-deoxycytidine, but not with the histone deacetylase inhibitor trichostatin A exclusively restored DCC expression in CRC cell lines. (PMID:19329758)
- Alterations in TP53, APC, K-ras, and DCC genes in the non-dysplastic ulcerative colitis and Crohn’s disease colon, were analyzed. (PMID:19543899)
- DCC receptor is localized to syncytiotrophoblasts and invasive extravillous cytotrophoblasts during the first trimester and at term. (PMID:19826074)
- Lost expression of DCC gene is associated with ovarian cancer. (PMID:20054719)
- DCC methylation was observed in the course of gastric carcinogenesis and disappeared in advanced gastric carcinoma. (PMID:20150623)
- study found that individuals affected with congenital mirror movements carried protein-truncating mutations in DCC; mutant DCC protein revealed a defect in netrin-1 binding; DCC has an important role in lateralization of the nervous system (PMID:20431009)
- our findings might indicate also an important role for DCC and netrin-1 in human foetal central nervous system development (PMID:20609112)
- study reports a novel DCC gene mutation responsible for congenital isolated persistent mirror movements in an Italian family and provide evidence that this entity is genetically heterogeneous (PMID:21242494)
- An unexpected binding mode of the DCC peptide to the subdomain C groove of the FERM domain, which is distinct from previously reported beta-beta associations found in radixin-adhesion molecule complexes. (PMID:21642953)
- SNP rs7504990 in the DCC showed genome-wide significant association with gallbladder cancer susceptibility. (PMID:22318345)
- The results of this study suggested that DCC as a promising novel candidate gene that may contribute to the genetic basis behind individual differences in susceptibility to schizophrenia. (PMID:22418395)
- Netrin-1 and DCC are increased in diseased lumbar intervertebral discs and may play a role in the process of neurovascular growth. (PMID:22588384)
- Ethnic Malays is genetically susceptible to H. pylori infection and is possibly mediated through a genetic variation in the DCC gene. (PMID:22829558)
- results suggested that cohypermethylation of p14 in combination with DCC and/or CADM1 may be an independent prognostic factor for recurrence in patients with stage I ESCC (PMID:23310950)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dcc | ENSDARG00000104282 |
| mus_musculus | Dcc | ENSMUSG00000060534 |
| rattus_norvegicus | Dcc | ENSRNOG00000033099 |
Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), L1CAM (ENSG00000198910)
Protein
Protein identifiers
Netrin receptor DCC — P43146 (reviewed: P43146)
Alternative names: Colorectal cancer suppressor, Immunoglobulin superfamily DCC subclass member 1, Tumor suppressor protein DCC
All UniProt accessions (9): P43146, H0Y2Q5, J3QKL2, J3QLB0, J3QLT8, J3QQJ6, J3QRL3, J3QRM6, J3QS93
UniProt curated annotations — full annotation on UniProt →
Function. Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene.
Subunit / interactions. Interacts with the cytoplasmic part of UNC5A, UNC5B, UNC5C and probably UNC5D. Interacts with DSCAM. Interacts with PTK2/FAK1 and MAPK1. Interacts with NTN1. Interacts with MYO10. Interacts with CBLN4; this interaction can be competed by NTN1. Interacts with SIAH1 and SIAH2.
Subcellular location. Membrane.
Tissue specificity. Found in axons of the central and peripheral nervous system and in differentiated cell types of the intestine. Not expressed in colorectal tumor cells that lost their capacity to differentiate into mucus producing cells.
Post-translational modifications. Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation.
Disease relevance. Mirror movements 1 (MRMV1) [MIM:157600] A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. Some MRMV1 patients have agenesis of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry. Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development (HGPPS2) [MIM:617542] An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. Inactivation of DCC due to allelic deletion and/or point mutations is related to lymphatic and hematogenous metastatic tumor dissemination.
Similarity. Belongs to the immunoglobulin superfamily. DCC family.
RefSeq proteins (1): NP_005206* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR010560 | Neogenin_C | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
Pfam: PF00041, PF06583, PF07679
UniProt features (123 total): strand 51, sequence variant 27, domain 10, glycosylation site 6, region of interest 5, disulfide bond 4, helix 3, compositionally biased region 3, modified residue 3, mutagenesis site 3, topological domain 2, turn 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3AU4 | X-RAY DIFFRACTION | 1.9 |
| 5X83 | X-RAY DIFFRACTION | 3 |
| 4URT | X-RAY DIFFRACTION | 3.1 |
| 2ED7 | SOLUTION NMR | |
| 2ED8 | SOLUTION NMR | |
| 2ED9 | SOLUTION NMR | |
| 2EDB | SOLUTION NMR | |
| 2EDD | SOLUTION NMR | |
| 2EDE | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P43146-F1 | 68.60 | 0.26 |
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): 1178, 1187, 1267
Disulfide bonds (4): 61–117, 161–212, 261–310, 352–400
Glycosylation sites (6): 94, 299, 318, 478, 628, 702
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 1432 | abolishes interaction with myo10. |
| 1435–1436 | abolishes interaction with myo10. |
| 1439 | abolishes interaction with myo10. |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-373752 | Netrin-1 signaling |
| R-HSA-376172 | DSCAM interactions |
| R-HSA-418885 | DCC mediated attractive signaling |
| R-HSA-418886 | Netrin mediated repulsion signals |
| R-HSA-418889 | Caspase activation via Dependence Receptors in the absence of ligand |
| R-HSA-418890 | Role of second messengers in netrin-1 signaling |
| R-HSA-428542 | Regulation of commissural axon pathfinding by SLIT and ROBO |
MSigDB gene sets: 401 (showing top):
GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_DENDRITE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_REGULATION_OF_COLLATERAL_SPROUTING, BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, PID_NETRIN_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_GROWTH, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOCC_CELL_SURFACE, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT
GO Biological Process (12): neuron migration (GO:0001764), apoptotic process (GO:0006915), axonogenesis (GO:0007409), axon guidance (GO:0007411), negative regulation of neuron projection development (GO:0010977), spinal cord ventral commissure morphogenesis (GO:0021965), dorsal/ventral axon guidance (GO:0033563), anterior/posterior axon guidance (GO:0033564), negative regulation of collateral sprouting (GO:0048671), cell-cell adhesion (GO:0098609), postsynaptic modulation of chemical synaptic transmission (GO:0099170), negative regulation of dendrite development (GO:2000171)
GO Molecular Function (2): transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)
GO Cellular Component (7): cytosol (GO:0005829), plasma membrane (GO:0005886), cell surface (GO:0009986), axon (GO:0030424), Schaffer collateral - CA1 synapse (GO:0098685), postsynaptic density membrane (GO:0098839), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Netrin-1 signaling | 4 |
| Axon guidance | 1 |
| Caspase activation via extrinsic apoptotic signalling pathway | 1 |
| Signaling by ROBO receptors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| axon guidance | 2 |
| cell migration | 1 |
| generation of neurons | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| regulation of neuron projection development | 1 |
| neuron projection development | 1 |
| negative regulation of cell projection organization | 1 |
| spinal cord development | 1 |
| central nervous system projection neuron axonogenesis | 1 |
| negative regulation of cell growth | 1 |
| negative regulation of developmental growth | 1 |
| collateral sprouting | 1 |
| regulation of collateral sprouting | 1 |
| negative regulation of axonogenesis | 1 |
| cell adhesion | 1 |
| modulation of chemical synaptic transmission | 1 |
| postsynapse | 1 |
| negative regulation of neuron projection development | 1 |
| dendrite development | 1 |
| regulation of dendrite development | 1 |
| negative regulation of developmental process | 1 |
| signaling receptor activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| neuron projection | 1 |
| synapse | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
Protein interactions and networks
STRING
1150 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DCC | NTN1 | O95631 | 999 |
| DCC | UNC5B | Q8IZJ1 | 816 |
| DCC | SLIT3 | O75094 | 747 |
| DCC | NTN4 | Q9HB63 | 742 |
| DCC | SLIT2 | O94813 | 708 |
| DCC | TRIM9 | Q9C026 | 693 |
| DCC | UNC5D | Q6UXZ4 | 675 |
| DCC | DSCAM | O60469 | 663 |
| DCC | ALOX12 | P18054 | 638 |
| DCC | CBLN4 | Q9NTU7 | 631 |
| DCC | SLIT1 | O75093 | 620 |
| DCC | UNC5A | Q6ZN44 | 620 |
| DCC | RPL5 | P46777 | 603 |
| DCC | ROBO2 | Q9HCK4 | 598 |
| DCC | ROBO1 | Q9Y6N7 | 595 |
IntAct
62 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CNOT6L | CNOT1 | psi-mi:“MI:0914”(association) | 0.810 |
| DCC | NTN1 | psi-mi:“MI:0915”(physical association) | 0.700 |
| DCC | NTN1 | psi-mi:“MI:0407”(direct interaction) | 0.700 |
| DCC | NTN1 | psi-mi:“MI:0914”(association) | 0.700 |
| DCC | MYO10 | psi-mi:“MI:0407”(direct interaction) | 0.650 |
| MYO10 | DCC | psi-mi:“MI:0915”(physical association) | 0.650 |
| DCC | RPL5 | psi-mi:“MI:0915”(physical association) | 0.610 |
| DCC | CASP9 | psi-mi:“MI:0915”(physical association) | 0.590 |
| CASP9 | DCC | psi-mi:“MI:0915”(physical association) | 0.590 |
| DCC | IGFBPL1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| DCC | PSG7 | psi-mi:“MI:0915”(physical association) | 0.540 |
| IGFBPL1 | DCC | psi-mi:“MI:0915”(physical association) | 0.540 |
| PSG7 | DCC | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| DCC | IGFBPL1 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| MAZ | DCC | psi-mi:“MI:0915”(physical association) | 0.510 |
| DCC | MAZ | psi-mi:“MI:0915”(physical association) | 0.510 |
| RPL28 | DCC | psi-mi:“MI:0914”(association) | 0.460 |
| DCC | NTN4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LTF | DCC | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (121): AR (Affinity Capture-Western), AR (Reconstituted Complex), AR (Two-hybrid), DCC (Affinity Capture-Western), DCC (Affinity Capture-Western), PTK2 (Affinity Capture-Western), DCC (Affinity Capture-Western), DCC (Affinity Capture-Western), DCC (Positive Genetic), NTN1 (Reconstituted Complex), RRBP1 (Proximity Label-MS), CASP3 (Two-hybrid), DCC (Affinity Capture-Western), DCC (Affinity Capture-Western), DCC (Reconstituted Complex)
ESM2 similar proteins: D3ZB51, E9PZ19, O60245, O94779, P13590, P13591, P13595, P13596, P14781, P24786, P31836, P33150, P43146, P55290, P68500, P70211, P97300, P97527, P97528, P97546, P97603, P97798, Q07409, Q0E9H9, Q16288, Q3B7N0, Q5IFJ9, Q5IS37, Q5IS82, Q5R5W6, Q62682, Q62845, Q63155, Q69Z26, Q6AZB0, Q6VNS1, Q7TPD3, Q7ZW34, Q8IWV2, Q90610
Diamond homologs: A0A087WV53, A1KZ92, A2AJ76, A4IFW2, A4IGL7, A6NDA9, B0BNK7, B0V2N1, D2HFT7, D3YXG0, D4A1J9, D4ABX8, F1NWE3, G5EG78, O15146, O73775, O75325, O94898, P07722, P15364, P20916, P20917, P23468, P43146, P48960, P53813, P70193, P70211, Q03142, Q08761, Q08879, Q13332, Q13449, Q1ENI8, Q1RMS4, Q1WIM1, Q21038, Q24372, Q26474, Q2Q421
SIGNOR signaling
20 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SOX9 | “up-regulates quantity by expression” | DCC | “transcriptional regulation” |
| TFAP2A | “up-regulates quantity by expression” | DCC | “transcriptional regulation” |
| NTN1 | “up-regulates activity” | DCC | binding |
| DCC | up-regulates | Chemoattraction_of_axon | |
| UNC5A | “down-regulates activity” | DCC | binding |
| UNC5C | “down-regulates activity” | DCC | binding |
| UNC5B | “down-regulates activity” | DCC | binding |
| UNC5D | “down-regulates activity” | DCC | binding |
| UNC5 | “down-regulates activity” | DCC | binding |
| DCC | “up-regulates activity” | CACNA1C | |
| DCC | “up-regulates activity” | CACNA1D | |
| DCC | “up-regulates activity” | CACNA1A | |
| DCC | “up-regulates activity” | PTK2 | binding |
| DCC | “up-regulates activity” | SRC | binding |
| FYN | “up-regulates activity” | DCC | phosphorylation |
| DCC | “up-regulates activity” | MYO10 | binding |
| MYO10 | “up-regulates quantity” | DCC | relocalization |
| TRIO | “up-regulates quantity” | DCC | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 43 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 |
|---|---|---|---|
| Response of EIF2AK4 (GCN2) to amino acid deficiency | 5 | 17.9× | 8e-04 |
| L13a-mediated translational silencing of Ceruloplasmin expression | 5 | 16.3× | 8e-04 |
| GTP hydrolysis and joining of the 60S ribosomal subunit | 5 | 16.2× | 8e-04 |
| Axon guidance | 6 | 8.7× | 3e-03 |
| Nervous system development | 6 | 8.3× | 3e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 5 cancer types — COADREAD, ESCA, HCC, PAAD, PRAD.
Clinical variants and AI predictions
ClinVar
355 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 36 |
| Likely pathogenic | 17 |
| Uncertain significance | 205 |
| Likely benign | 48 |
| Benign | 19 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1072844 | NM_005215.4(DCC):c.3682C>T (p.Arg1228Ter) | Pathogenic |
| 1300257 | NM_005215.4(DCC):c.2774dup (p.Asn925fs) | Pathogenic |
| 1676259 | NM_005215.4(DCC):c.2266C>T (p.Arg756Ter) | Pathogenic |
| 17074 | NM_005215.4(DCC):c.4124C>A (p.Pro1375His) | Pathogenic |
| 17075 | NM_005215.4(DCC):c.503T>C (p.Met168Thr) | Pathogenic |
| 187795 | NM_005215.4(DCC):c.571dup (p.Val191fs) | Pathogenic |
| 187796 | NM_005215.4(DCC):c.823C>T (p.Arg275Ter) | Pathogenic |
| 187797 | NM_005215.4(DCC):c.1140+1G>A | Pathogenic |
| 187800 | NM_005215.4(DCC):c.3836_3837del (p.Leu1279fs) | Pathogenic |
| 187801 | NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del) | Pathogenic |
| 2229313 | NM_005215.4(DCC):c.3061C>T (p.Arg1021Ter) | Pathogenic |
| 2429879 | NM_005215.4(DCC):c.1154T>A (p.Leu385Ter) | Pathogenic |
| 2473854 | NM_005215.4(DCC):c.2540del (p.Pro847fs) | Pathogenic |
| 2498740 | NM_005215.4(DCC):c.965_966dup (p.Ala323fs) | Pathogenic |
| 2500956 | NM_005215.4(DCC):c.1573+2T>G | Pathogenic |
| 2626888 | NM_005215.4(DCC):c.2280_2286del (p.Ile760fs) | Pathogenic |
| 3027383 | NM_005215.4(DCC):c.2205_2207delinsATGAT (p.Pro736Ter) | Pathogenic |
| 3376699 | NM_005215.4(DCC):c.2377_2381del (p.Val793fs) | Pathogenic |
| 3377513 | NM_005215.4(DCC):c.3577C>T (p.Gln1193Ter) | Pathogenic |
| 375281 | NM_005215.4(DCC):c.925del (p.Thr309fs) | Pathogenic |
| 375282 | NM_005215.4(DCC):c.2378T>G (p.Val793Gly) | Pathogenic |
| 375283 | NM_005215.4(DCC):c.2414G>A (p.Gly805Glu) | Pathogenic |
| 375284 | NM_005215.4(DCC):c.1790G>C (p.Arg597Pro) | Pathogenic |
| 375287 | NM_005215.4(DCC):c.2677G>A (p.Ala893Thr) | Pathogenic |
| 3899221 | NM_005215.4(DCC):c.278C>A (p.Ser93Ter) | Pathogenic |
| 446724 | NM_005215.4(DCC):c.788_794del (p.Val263fs) | Pathogenic |
| 446759 | NM_005215.4(DCC):c.31_91+7622del | Pathogenic |
| 4532371 | NM_005215.4(DCC):c.2635C>T (p.Arg879Ter) | Pathogenic |
| 4832987 | NM_005215.4(DCC):c.2353_2354dup (p.Leu786fs) | Pathogenic |
| 4845332 | NM_005215.4(DCC):c.2690C>G (p.Ser897Ter) | Pathogenic |
SpliceAI
3799 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:52392899:G:GT | donor_gain | 1.0000 |
| 18:52752050:CCA:C | acceptor_loss | 1.0000 |
| 18:52752051:CA:C | acceptor_loss | 1.0000 |
| 18:52752052:A:AG | acceptor_gain | 1.0000 |
| 18:52752053:G:GG | acceptor_gain | 1.0000 |
| 18:52752226:G:GT | donor_gain | 1.0000 |
| 18:52752370:AGCAG:A | donor_loss | 1.0000 |
| 18:52752372:CAGGT:C | donor_loss | 1.0000 |
| 18:52752373:AGG:A | donor_loss | 1.0000 |
| 18:52752374:GGTA:G | donor_loss | 1.0000 |
| 18:52752375:GTA:G | donor_loss | 1.0000 |
| 18:52752376:T:G | donor_loss | 1.0000 |
| 18:52906040:CTA:C | acceptor_loss | 1.0000 |
| 18:52906042:A:AG | acceptor_gain | 1.0000 |
| 18:52906042:AG:A | acceptor_gain | 1.0000 |
| 18:52906043:G:GA | acceptor_gain | 1.0000 |
| 18:52906043:GG:G | acceptor_gain | 1.0000 |
| 18:52906043:GGACC:G | acceptor_gain | 1.0000 |
| 18:52906324:ATCAG:A | donor_loss | 1.0000 |
| 18:52906325:TCAG:T | donor_loss | 1.0000 |
| 18:52906326:CAG:C | donor_loss | 1.0000 |
| 18:52906327:AG:A | donor_loss | 1.0000 |
| 18:52906328:GG:G | donor_loss | 1.0000 |
| 18:52906329:G:A | donor_loss | 1.0000 |
| 18:52906330:T:A | donor_loss | 1.0000 |
| 18:52340875:ACCGG:A | donor_loss | 0.9900 |
| 18:52340876:CCGG:C | donor_loss | 0.9900 |
| 18:52340877:CGG:C | donor_loss | 0.9900 |
| 18:52340879:G:GG | donor_gain | 0.9900 |
| 18:52340880:T:A | donor_loss | 0.9900 |
AlphaMissense
9393 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:52752182:T:A | W74R | 1.000 |
| 18:52752182:T:C | W74R | 1.000 |
| 18:52752184:G:C | W74C | 1.000 |
| 18:52752184:G:T | W74C | 1.000 |
| 18:52906150:G:C | W173C | 1.000 |
| 18:52906150:G:T | W173C | 1.000 |
| 18:53063409:T:A | W364R | 1.000 |
| 18:53063409:T:C | W364R | 1.000 |
| 18:53063411:G:C | W364C | 1.000 |
| 18:53063411:G:T | W364C | 1.000 |
| 18:52752183:G:C | W74S | 0.999 |
| 18:52752305:T:G | Y115D | 0.999 |
| 18:52906148:T:A | W173R | 0.999 |
| 18:52906148:T:C | W173R | 0.999 |
| 18:52906149:G:C | W173S | 0.999 |
| 18:52906259:T:G | Y210D | 0.999 |
| 18:52923826:T:A | W273R | 0.999 |
| 18:52923826:T:C | W273R | 0.999 |
| 18:53063410:G:C | W364S | 0.999 |
| 18:53066097:T:G | Y398D | 0.999 |
| 18:53066103:T:C | C400R | 0.999 |
| 18:53066105:T:G | C400W | 0.999 |
| 18:53157428:T:A | V445D | 0.999 |
| 18:53157439:T:A | W449R | 0.999 |
| 18:53157439:T:C | W449R | 0.999 |
| 18:53157485:T:A | V464D | 0.999 |
| 18:53179042:T:C | F500S | 0.999 |
| 18:53179048:T:A | V502D | 0.999 |
| 18:53205284:T:A | W548R | 0.999 |
| 18:53205284:T:C | W548R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000001379 (18:52859003 T>C), RS1000002772 (18:52966775 C>G,T), RS1000004801 (18:52774919 T>C), RS1000006237 (18:52360112 A>G), RS1000008397 (18:52818573 C>T), RS1000008414 (18:53004191 C>T), RS1000009595 (18:53194411 C>A), RS1000009623 (18:52925572 C>T), RS1000012093 (18:53115613 A>G), RS1000012313 (18:53188068 G>T), RS1000013002 (18:52936381 G>C), RS1000015148 (18:52850076 T>C), RS1000019453 (18:53077171 G>A), RS1000019999 (18:52673937 G>A), RS1000022239 (18:52400393 G>A)
Disease associations
OMIM: gene MIM:120470 | disease phenotypes: MIM:157600, MIM:114500, MIM:617542, MIM:217990, MIM:133239
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| mirror movements 1 | Definitive | Autosomal dominant |
| gaze palsy, familial horizontal, with progressive scoliosis, 2 | Strong | Autosomal recessive |
| connective tissue disorder | Moderate | Autosomal recessive |
| familial congenital mirror movements | Supportive | Autosomal dominant |
| Kallmann syndrome | Supportive | Autosomal dominant |
| colorectal cancer | No Known Disease Relationship | Unknown |
| esophageal cancer | No Known Disease Relationship | Unknown |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mirror movements 1 and/or agenesis of the corpus callosum | Definitive | AD |
Mondo (12): mirror movements 1 (MONDO:0008002), colorectal cancer (MONDO:0005575), gaze palsy, familial horizontal, with progressive scoliosis, 2 (MONDO:0054602), mirror movements 1 and/or agenesis of the corpus callosum (MONDO:0100515), amenorrhea (MONDO:0001836), colon carcinoma (MONDO:0002032), corpus callosum, agenesis of (MONDO:0009022), autism spectrum disorder (MONDO:0005258), esophageal cancer (MONDO:0007576), connective tissue disorder (MONDO:0003900), familial congenital mirror movements (MONDO:0016558), Kallmann syndrome (MONDO:0018800)
Orphanet (5): Familial congenital mirror movements (Orphanet:238722), Isolated corpus callosum agenesis (Orphanet:200), Squamous cell carcinoma of the esophagus (Orphanet:99977), NON RARE IN EUROPE: Colorectal cancer (Orphanet:466667), NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
93 total (30 of 93 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000008 | Abnormal morphology of female internal genitalia |
| HP:0000028 | Cryptorchidism |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000054 | Micropenis |
| HP:0000104 | Renal agenesis |
| HP:0000144 | Decreased fertility |
| HP:0000175 | Cleft palate |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000458 | Anosmia |
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000551 | Color vision defect |
| HP:0000639 | Nystagmus |
| HP:0000750 | Delayed speech and language development |
| HP:0000771 | Gynecomastia |
| HP:0000786 | Primary amenorrhea |
| HP:0000823 | Delayed puberty |
| HP:0000830 | Anterior hypopituitarism |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001256 | Mild intellectual disability |
| HP:0001260 | Dysarthria |
GWAS associations
108 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001053_6 | Alcoholism (alcohol use disorder factor score) | 8.000000e-06 |
| GCST001404_1 | Gallbladder cancer | 7.000000e-08 |
| GCST001762_102 | Obesity-related traits | 5.000000e-07 |
| GCST002157_8 | Response to mTOR inhibitor (everolimus) | 9.000000e-06 |
| GCST002726_16 | Glucose homeostasis traits | 8.000000e-06 |
| GCST002756_2 | Subcortical brain region volumes | 1.000000e-13 |
| GCST002928_18 | Nickel levels | 3.000000e-06 |
| GCST003207_1 | Response to exercise (triglyceride level interaction) | 3.000000e-06 |
| GCST003230_2 | Survival in colorectal cancer (distant metastatic) | 2.000000e-06 |
| GCST003230_4 | Survival in colorectal cancer (distant metastatic) | 2.000000e-06 |
| GCST003487_7 | Response to fenofibrate (total cholesterol levels) | 2.000000e-06 |
| GCST003523_23 | Coenzyme Q10 levels | 2.000000e-07 |
| GCST003769_2 | Depression | 1.000000e-08 |
| GCST003779_1 | Smoking behaviour (cigarettes smoked per day) | 3.000000e-06 |
| GCST003964_4 | Bortezomib-induced peripheral neuropathy in multiple myeloma | 9.000000e-06 |
| GCST004586_3 | Body mass index (ever vs never smoking interaction) | 5.000000e-06 |
| GCST004863_85 | Mosquito bite size | 7.000000e-06 |
| GCST004904_197 | Body mass index | 4.000000e-08 |
| GCST005083_9 | Putamen volume | 4.000000e-12 |
| GCST005141_29 | Cognitive ability (MTAG) | 6.000000e-11 |
| GCST005142_44 | Cognitive ability | 4.000000e-07 |
| GCST005237_4 | Mood instability | 1.000000e-07 |
| GCST005238_4 | Mood instability | 3.000000e-09 |
| GCST005316_221 | Intelligence (MTAG) | 7.000000e-14 |
| GCST005316_222 | Intelligence (MTAG) | 6.000000e-13 |
| GCST005316_223 | Intelligence (MTAG) | 1.000000e-08 |
| GCST005316_224 | Intelligence (MTAG) | 9.000000e-16 |
| GCST005316_225 | Intelligence (MTAG) | 2.000000e-09 |
| GCST005316_226 | Intelligence (MTAG) | 2.000000e-15 |
| GCST005316_227 | Intelligence (MTAG) | 1.000000e-11 |
EFO canonical traits (32, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005189 | respiratory quotient |
| EFO:0005417 | response to mTOR inhibitor |
| EFO:0006830 | insulin metabolic clearance rate measurement |
| EFO:0007681 | triglyceride change measurement |
| EFO:0007768 | response to exercise |
| EFO:0000714 | survival time |
| EFO:0007675 | metastasis measurement |
| EFO:0007806 | total cholesterol change measurement |
| EFO:0007836 | coenzyme Q10 measurement |
| EFO:0007006 | depressive symptom measurement |
| EFO:0006525 | cigarettes per day measurement |
| EFO:0004340 | body mass index |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
| EFO:0008475 | mood instability measurement |
| EFO:0004312 | vital capacity |
| EFO:0007660 | neuroticism measurement |
| EFO:0009598 | feeling miserable measurement |
| EFO:0009588 | feeling “fed-up” measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0009749 | age at first sexual intercourse measurement |
| EFO:0004335 | short-term memory |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0010100 | multisite chronic pain |
| EFO:0009695 | household income |
| EFO:0004346 | neuroimaging measurement |
| EFO:0005670 | smoking initiation |
| EFO:0005665 | white matter hyperintensity measurement |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D061085 | Agenesis of Corpus Callosum | C10.500.034; C16.131.666.034; C23.300.008 |
| D000568 | Amenorrhea | C23.550.568.500 |
| D003240 | Connective Tissue Diseases | C17.300 |
| D017436 | Kallmann Syndrome | C12.050.351.875.253.096.750; C12.200.706.316.096.750; C12.800.316.096.750; C16.131.939.316.096.750; C16.320.467; C19.391.119.096.750; C19.391.482.600 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 6 |
| trichostatin A | affects cotreatment, increases expression, affects expression, decreases reaction | 4 |
| entinostat | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| taxifolin | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| ascorbate-2-phosphate | affects cotreatment, increases expression, affects binding | 1 |
| terbufos | increases methylation | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| sodium arsenite | affects methylation | 1 |
| rutecarpine | decreases expression | 1 |
| 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid | affects cotreatment, increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| Chir 99021 | affects cotreatment, increases expression, affects binding | 1 |
| belinostat | increases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| XAV939 | affects binding, affects cotreatment, increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| 3-(4-pyridyl)-1H-indole | increases expression, affects cotreatment | 1 |
| Decitabine | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Ascorbic Acid | affects binding, affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cannabinoids | increases abundance, affects methylation | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Fluorouracil | affects cotreatment, increases response to substance | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_7066 | Ma-26 | Cancer cell line | Male |
| CVCL_B8EJ | Abcam HCT 116 DCC KO | Cancer cell line | Male |
| CVCL_B8UM | Abcam MCF-7 DCC KO | Cancer cell line | Female |
| CVCL_B9GS | Abcam A-549 DCC KO | Cancer cell line | Male |
Clinical trials (associated diseases)
383 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01042158 | PHASE4 | COMPLETED | A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis |
| NCT03688191 | PHASE4 | UNKNOWN | Study of Sirolimus in CTD-TP in China |
| NCT04169100 | PHASE4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
| NCT04197050 | PHASE4 | UNKNOWN | Effect of Sacubitril/Valsartan on Reduced Right Ventricular Ejection Fraction in Patients With CTD |
| NCT04928586 | PHASE4 | UNKNOWN | Immunosuppressant Combined With Pirfenidone in CTD-ILD |
| NCT05440240 | PHASE4 | RECRUITING | Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture |
| NCT05505409 | PHASE4 | UNKNOWN | Efficacy and Safety of Pirfenidone in CTD-ILD |
| NCT06499233 | PHASE4 | RECRUITING | Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease |
| 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 |
Related Atlas pages
- Associated diseases: mirror movements 1, gaze palsy, familial horizontal, with progressive scoliosis, 2, connective tissue disorder, colorectal carcinoma, esophageal cancer, familial congenital mirror movements, Kallmann syndrome, mirror movements 1 and/or agenesis of the corpus callosum
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcohol dependence, amenorrhea, benign prostatic hyperplasia, colon carcinoma, colorectal cancer, colorectal carcinoma, connective tissue disorder, corpus callosum, agenesis of, esophageal cancer, familial congenital mirror movements, gallbladder neoplasm, gastroesophageal reflux disease, gaze palsy, familial horizontal, with progressive scoliosis, 2, Kallmann syndrome, mirror movements 1, mirror movements 1 and/or agenesis of the corpus callosum, peripheral neuropathy