DCTD
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Summary
DCTD (dCMP deaminase, HGNC:2710) is a protein-coding gene on chromosome 4q35.1, encoding Deoxycytidylate deaminase (P32321). Catalyzes the deamination of dCMP to dUMP, providing the nucleoside monophosphate substrate for the thymidylate synthase/TYMS.
The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by dTTP, and is found as a homohexamer. This protein uses zinc as a cofactor for its activity. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 1635 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 45 total
- Druggable target: yes
- MANE Select transcript:
NM_001921
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2710 |
| Approved symbol | DCTD |
| Name | dCMP deaminase |
| Location | 4q35.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000129187 |
| Ensembl biotype | protein_coding |
| OMIM | 607638 |
| Entrez | 1635 |
Gene structure
Transcript identifiers
Ensembl transcripts: 41 — 34 protein_coding, 6 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000357067, ENST00000438320, ENST00000500813, ENST00000503182, ENST00000503820, ENST00000503988, ENST00000507543, ENST00000507631, ENST00000508994, ENST00000509218, ENST00000509757, ENST00000510307, ENST00000510370, ENST00000512766, ENST00000513348, ENST00000513383, ENST00000514754, ENST00000908122, ENST00000908123, ENST00000908124, ENST00000908125, ENST00000908126, ENST00000908127, ENST00000908128, ENST00000908129, ENST00000908130, ENST00000908131, ENST00000908132, ENST00000926931, ENST00000926932, ENST00000926933, ENST00000926934, ENST00000926935, ENST00000926936, ENST00000926937, ENST00000926938, ENST00000926939, ENST00000926940, ENST00000949230, ENST00000949231, ENST00000949232
RefSeq mRNA: 9 — MANE Select: NM_001921
NM_001012732, NM_001351743, NM_001351744, NM_001351745, NM_001351747, NM_001351748, NM_001351750, NM_001351753, NM_001921
CCDS: CCDS34108, CCDS3831
Canonical transcript exons
ENST00000438320 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002040393 | 182917311 | 182917386 |
| ENSE00003500086 | 182915461 | 182915575 |
| ENSE00003525191 | 182914923 | 182915058 |
| ENSE00003674419 | 182890091 | 182891477 |
| ENSE00003694327 | 182893031 | 182893127 |
| ENSE00003786290 | 182894489 | 182894605 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 97.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.2791 / max 177.2784, expressed in 1815 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 55081 | 31.4684 | 1813 |
| 55083 | 4.9256 | 1697 |
| 55079 | 1.0831 | 784 |
| 55082 | 0.4609 | 233 |
| 55084 | 0.2244 | 83 |
| 55080 | 0.1168 | 28 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 97.81 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.80 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.61 | gold quality |
| gall bladder | UBERON:0002110 | 96.51 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.50 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.43 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.40 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.29 | gold quality |
| adrenal gland | UBERON:0002369 | 95.98 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.95 | gold quality |
| thyroid gland | UBERON:0002046 | 95.67 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.64 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.52 | gold quality |
| endocervix | UBERON:0000458 | 94.94 | gold quality |
| left ovary | UBERON:0002119 | 94.77 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.74 | gold quality |
| body of pancreas | UBERON:0001150 | 94.71 | gold quality |
| body of stomach | UBERON:0001161 | 94.71 | gold quality |
| pancreas | UBERON:0001264 | 94.66 | gold quality |
| right coronary artery | UBERON:0001625 | 94.56 | gold quality |
| right ovary | UBERON:0002118 | 94.45 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.33 | gold quality |
| ascending aorta | UBERON:0001496 | 94.31 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.21 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.14 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.06 | gold quality |
| rectum | UBERON:0001052 | 94.04 | gold quality |
| tibial nerve | UBERON:0001323 | 94.04 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.00 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.99 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 4.93 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
61 targeting DCTD, 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-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| 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-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-516B-5P | 99.56 | 66.33 | 1495 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-4519 | 99.48 | 66.10 | 859 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-363-5P | 99.46 | 64.51 | 1015 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dctd | ENSDARG00000036990 |
| mus_musculus | Dctd | ENSMUSG00000031562 |
| rattus_norvegicus | Dctd | ENSRNOG00000013215 |
| drosophila_melanogaster | CG6951 | FBGN0036959 |
| caenorhabditis_elegans | WBGENE00014034 |
Paralogs (1): CDADC1 (ENSG00000102543)
Protein
Protein identifiers
Deoxycytidylate deaminase — P32321 (reviewed: P32321)
Alternative names: dCMP deaminase
All UniProt accessions (11): P32321, D6R9P0, D6R9S0, D6RAD7, D6RAR9, D6RBJ9, D6RBN2, D6RC36, D6RD72, D6RIG3, D6RJA9
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the deamination of dCMP to dUMP, providing the nucleoside monophosphate substrate for the thymidylate synthase/TYMS. Also, part of a nucleotide salvage pathway that eliminates epigenetically modified 5-hydroxymethyl-dCMP (hmdCMP) in a two-step process entailing deamination to cytotoxic 5-hydroxymethyl-dUMP (hmdUMP), followed by its hydrolysis into 5-hydroxymethyluracil (hmU) and 2-deoxy-D-ribose 5-phosphate (deoxyribosephosphate). Catalyzes the first step in that pathway, the deamination of 5-hydroxymethyl-dCMP (hmdCMP).
Subunit / interactions. Homohexamer.
Activity regulation. Allosteric enzyme whose activity is greatly influenced by the end products of its metabolic pathway, dCTP and dTTP.
Similarity. Belongs to the cytidine and deoxycytidylate deaminase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P32321-1 | 1 | yes |
| P32321-2 | 2 |
RefSeq proteins (9): NP_001012750, NP_001338672, NP_001338673, NP_001338674, NP_001338676, NP_001338677, NP_001338679, NP_001338682, NP_001912* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002125 | CMP_dCMP_dom | Domain |
| IPR015517 | dCMP_deaminase-rel | Family |
| IPR016192 | APOBEC/CMP_deaminase_Zn-bd | Binding_site |
| IPR016193 | Cytidine_deaminase-like | Homologous_superfamily |
| IPR016473 | dCMP_deaminase | Family |
| IPR035105 | Deoxycytidylate_deaminase_dom | Domain |
Pfam: PF00383
Catalyzed reactions (Rhea), 2 shown:
- dCMP + H2O + H(+) = dUMP + NH4(+) (RHEA:22924)
- 5-hydroxymethyl-dCMP + H2O + H(+) = 5-hydroxymethyl-dUMP + NH4(+) (RHEA:77175)
UniProt features (25 total): helix 6, strand 6, turn 3, binding site 3, sequence conflict 2, chain 1, domain 1, active site 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2W4L | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P32321-F1 | 94.43 | 0.87 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 86 (proton donor)
Ligand- & substrate-binding residues (3): 84; 110; 113
Post-translational modifications (1): 174
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-499943 | Interconversion of nucleotide di- and triphosphates |
MSigDB gene sets: 165 (showing top):
GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MORF_HDAC2, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, KOKKINAKIS_METHIONINE_DEPRIVATION_96HR_UP, GOBP_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, MORF_BUB3, chr4q35, KOKKINAKIS_METHIONINE_DEPRIVATION_48HR_UP, MORF_PRKDC, GOBP_NUCLEOSIDE_SALVAGE
GO Biological Process (5): pyrimidine nucleotide metabolic process (GO:0006220), dUMP biosynthetic process (GO:0006226), dTMP biosynthetic process (GO:0006231), nucleoside salvage (GO:0043174), nucleotide biosynthetic process (GO:0009165)
GO Molecular Function (8): dCMP deaminase activity (GO:0004132), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), 5-hydroxymethyl-dUMP N-hydrolase activity (GO:0070694), catalytic activity (GO:0003824), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of nucleotides | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleotide metabolic process | 2 |
| pyrimidine deoxyribonucleoside monophosphate biosynthetic process | 2 |
| pyrimidine deoxyribonucleotide biosynthetic process | 2 |
| cellular anatomical structure | 2 |
| pyrimidine-containing compound metabolic process | 1 |
| dUMP metabolic process | 1 |
| dTMP metabolic process | 1 |
| nucleoside biosynthetic process | 1 |
| metabolic compound salvage | 1 |
| nucleoside phosphate biosynthetic process | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines | 1 |
| deaminase activity | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| hydrolase activity, hydrolyzing N-glycosyl compounds | 1 |
| molecular_function | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
744 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DCTD | TYMS | P04818 | 934 |
| DCTD | CDA | P32320 | 910 |
| DCTD | DCK | P27707 | 784 |
| DCTD | DTYMK | P23919 | 704 |
| DCTD | DUT | P33316 | 695 |
| DCTD | DCTPP1 | Q9H773 | 598 |
| DCTD | SLC29A1 | Q99808 | 594 |
| DCTD | TK2 | O00142 | 591 |
| DCTD | RRM1 | P23921 | 587 |
| DCTD | TK1 | P04183 | 586 |
| DCTD | CTPS1 | P17812 | 566 |
| DCTD | UMPS | P11172 | 540 |
| DCTD | SLC28A1 | O00337 | 540 |
| DCTD | CTPS2 | Q9NRF8 | 535 |
| DCTD | UPRT | Q96BW1 | 516 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DCTD | GORASP2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| DCTD | DCTD | psi-mi:“MI:0915”(physical association) | 0.740 |
| DCTD | SDCBP | psi-mi:“MI:0915”(physical association) | 0.720 |
| DCTD | MALSU1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SDCBP | DCTD | psi-mi:“MI:0915”(physical association) | 0.720 |
| MALSU1 | DCTD | psi-mi:“MI:0915”(physical association) | 0.720 |
| ENPP6 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| FGF12 | DCTD | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCTD | TXN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCTD | FGF12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCTD | CAF40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCTD | RPC11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAF40 | DCTD | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPC11 | DCTD | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACOT7 | DCTD | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (43): FGF12 (Two-hybrid), SDCBP (Two-hybrid), TXN2 (Two-hybrid), GORASP2 (Two-hybrid), MALSU1 (Two-hybrid), LNX1 (Two-hybrid), CEP76 (Two-hybrid), NUDT18 (Two-hybrid), NIF3L1 (Two-hybrid), DCTD (Two-hybrid), NGRN (Affinity Capture-MS), DCTD (Two-hybrid), DCTD (Two-hybrid), DCTD (Proximity Label-MS), DCTD (Two-hybrid)
ESM2 similar proteins: B3M383, B3P3W1, B4HLH4, B4JT42, B4K5R2, B4LX81, B4NBB0, B4PRJ9, B5DFN2, F1NTD6, F4KH86, O43865, O65571, O74942, P00814, P06773, P0C1J0, P16006, P30648, P32321, P34401, P38756, P47058, P50245, P87241, Q10003, Q12362, Q1EHT7, Q21407, Q21988, Q296Q5, Q5M9G0, Q5R889, Q5RC69, Q6FPH9, Q6J5K9, Q6NPD7, Q7QCW2, Q7YTB0, Q80SW1
Diamond homologs: O22000, O43012, P00814, P06773, P16006, P30648, P32321, P32393, P33968, P50853, P68397, P68398, Q5M9G0, Q5RC69, Q8FF24, Q8K2D6, Q8XA44, O67050, P21335, P44931, P70814, Q8K9R4, Q99W51, P57343, Q9VWA2, Q4R683, Q5RAX4, Q5U3U4, Q8BMD5, Q9BWV3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1146 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:182891473:ATTTC:A | acceptor_gain | 1.0000 |
| 4:182891474:TTTC:T | acceptor_gain | 1.0000 |
| 4:182891475:TTC:T | acceptor_gain | 1.0000 |
| 4:182891476:TC:T | acceptor_gain | 1.0000 |
| 4:182891476:TCCTA:T | acceptor_loss | 1.0000 |
| 4:182891477:CC:C | acceptor_gain | 1.0000 |
| 4:182891478:C:CC | acceptor_gain | 1.0000 |
| 4:182893026:CTTA:C | donor_loss | 1.0000 |
| 4:182893027:TTAC:T | donor_loss | 1.0000 |
| 4:182893028:TA:T | donor_loss | 1.0000 |
| 4:182893029:A:AC | donor_gain | 1.0000 |
| 4:182893029:ACCG:A | donor_loss | 1.0000 |
| 4:182893030:C:CC | donor_gain | 1.0000 |
| 4:182893030:C:G | donor_loss | 1.0000 |
| 4:182893127:CCTGT:C | acceptor_loss | 1.0000 |
| 4:182893128:C:T | acceptor_loss | 1.0000 |
| 4:182893129:T:G | acceptor_loss | 1.0000 |
| 4:182894544:A:AC | donor_gain | 1.0000 |
| 4:182894545:C:CC | donor_gain | 1.0000 |
| 4:182894545:CTA:C | donor_gain | 1.0000 |
| 4:182894601:GCACA:G | acceptor_gain | 1.0000 |
| 4:182894602:CACA:C | acceptor_gain | 1.0000 |
| 4:182894602:CACAC:C | acceptor_gain | 1.0000 |
| 4:182894603:ACA:A | acceptor_gain | 1.0000 |
| 4:182894603:ACACT:A | acceptor_loss | 1.0000 |
| 4:182894604:CA:C | acceptor_gain | 1.0000 |
| 4:182894604:CAC:C | acceptor_gain | 1.0000 |
| 4:182894605:ACTGT:A | acceptor_loss | 1.0000 |
| 4:182894606:C:A | acceptor_loss | 1.0000 |
| 4:182894606:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
1204 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:182915012:C:T | G52E | 0.999 |
| 4:182915018:C:T | G50E | 0.999 |
| 4:182894584:G:T | A89D | 0.998 |
| 4:182894585:C:G | A89P | 0.998 |
| 4:182915005:A:C | N54K | 0.998 |
| 4:182915005:A:T | N54K | 0.998 |
| 4:182915019:C:A | G50W | 0.998 |
| 4:182915019:C:G | G50R | 0.998 |
| 4:182915019:C:T | G50R | 0.998 |
| 4:182915047:G:C | C40W | 0.998 |
| 4:182915052:C:G | A39P | 0.998 |
| 4:182915482:T:A | R29S | 0.998 |
| 4:182915482:T:G | R29S | 0.998 |
| 4:182915483:C:G | R29T | 0.998 |
| 4:182915508:C:G | A21P | 0.998 |
| 4:182894492:C:G | A120P | 0.997 |
| 4:182894596:G:T | A85E | 0.997 |
| 4:182894598:A:C | H84Q | 0.997 |
| 4:182894598:A:T | H84Q | 0.997 |
| 4:182894600:G:C | H84D | 0.997 |
| 4:182914933:T:A | K78N | 0.997 |
| 4:182914933:T:G | K78N | 0.997 |
| 4:182914966:C:A | W67C | 0.997 |
| 4:182914966:C:G | W67C | 0.997 |
| 4:182914968:A:G | W67R | 0.997 |
| 4:182914968:A:T | W67R | 0.997 |
| 4:182915490:C:G | A27P | 0.997 |
| 4:182915501:G:T | A23D | 0.997 |
| 4:182894509:G:T | A114D | 0.996 |
| 4:182894510:C:G | A114P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000018152 (4:182895766 C>T), RS1000060262 (4:182908055 A>C), RS1000078661 (4:182911692 C>T), RS10001362 (4:182893669 A>C), RS1000205595 (4:182896155 C>A), RS1000235111 (4:182917135 C>T), RS1000392908 (4:182912215 C>T), RS1000406581 (4:182905429 A>T), RS1000482948 (4:182895505 C>A,T), RS1000550525 (4:182889801 C>G), RS1000881314 (4:182891458 T>C), RS1000911713 (4:182900232 C>T), RS10009825 (4:182901439 A>C), RS1001175885 (4:182911782 C>T), RS1001347405 (4:182914545 A>G)
Disease associations
OMIM: gene MIM:607638 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_295 | Obesity-related traits | 2.000000e-06 |
| GCST002160_1 | Wegener’s granulomatosis | 2.000000e-06 |
| GCST002875_137 | Diisocyanate-induced asthma | 9.000000e-09 |
| GCST009391_1148 | Metabolite levels | 8.000000e-06 |
| GCST009391_1466 | Metabolite levels | 6.000000e-06 |
| GCST009391_1473 | Metabolite levels | 2.000000e-06 |
| GCST009391_1516 | Metabolite levels | 9.000000e-06 |
| GCST009391_1523 | Metabolite levels | 5.000000e-06 |
| GCST009391_1948 | Metabolite levels | 3.000000e-06 |
| GCST009391_2099 | Metabolite levels | 5.000000e-06 |
| GCST009391_263 | Metabolite levels | 9.000000e-06 |
| GCST009391_694 | Metabolite levels | 4.000000e-07 |
| GCST009391_707 | Metabolite levels | 9.000000e-06 |
| GCST009391_839 | Metabolite levels | 9.000000e-06 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003939 | energy intake |
| EFO:0006995 | response to diisocyanate |
| EFO:0010457 | Alpha ketoglutarate measurement |
| EFO:0010406 | triacylglycerol 48:3 measurement |
| EFO:0010407 | triacylglycerol 48:4 measurement |
| EFO:0010417 | triacylglycerol 52:5 measurement |
| EFO:0010418 | triacylglycerol 52:6 measurement |
| EFO:0010462 | aspartate measurement |
| EFO:0010374 | phosphatidylcholine 32:2 measurement |
| EFO:0010426 | triacylglycerol 54:8 measurement |
| EFO:0007745 | lactate measurement |
| EFO:0010356 | lysophosphatidylcholine 14:0 measurement |
| EFO:0010399 | triacylglycerol 44:1 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5675 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs12507552 | Efficacy | 3 | gemcitabine | Pancreatic Neoplasms |
PharmGKB variants
3 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs4742 | DCTD | 0.00 | 0 | ||
| rs12507552 | DCTD | 3 | 2.75 | 1 | gemcitabine |
| rs35932500 | DCTD | 0.00 | 0 |
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.37 | Kd | 42.27 | nM | CHEMBL5653589 |
| 7.26 | ED50 | 54.7 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 8 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148202: Binding affinity to human DCTD incubated for 45 mins by Kinobead based pull down assay | kd | 0.0423 | uM |
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 2 |
| bisphenol F | decreases expression, affects cotreatment | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases reaction, affects binding | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Antimycin A | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
ChEMBL screening assays
5 unique, capped per target: 5 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1051088 | Binding | Activity of cloned deoxycytidylate deaminase in human HepG2 cells by spectrophotometric analysis | The mechanism of action of beta-D-2’-deoxy-2’-fluoro-2’-C-methylcytidine involves a second metabolic pathway leading to beta-D-2’-deoxy-2’-fluoro-2’-C-methyluridine 5’-triphosphate, a potent inhibitor of the hepatitis C virus RNA-dependent RNA polymerase. — Antimicrob Agents Chemother |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XN17 | HAP1 DCTD (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): granulomatosis with polyangiitis