DCD
gene geneOn this page
Also known as AIDDPIFDSEPHCAPDCD-1
Summary
DCD (dermcidin, HGNC:14669) is a protein-coding gene on chromosome 12q13.2, encoding Dermcidin (P81605). Found in sweat, has an antimicrobial activity during early bacterial colonization.
This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 117159 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 20 total
- Druggable target: yes
- MANE Select transcript:
NM_053283
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14669 |
| Approved symbol | DCD |
| Name | dermcidin |
| Location | 12q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AIDD, PIF, DSEP, HCAP, DCD-1 |
| Ensembl gene | ENSG00000161634 |
| Ensembl biotype | protein_coding |
| OMIM | 606634 |
| Entrez | 117159 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay
ENST00000293371, ENST00000456047, ENST00000546807
RefSeq mRNA: 2 — MANE Select: NM_053283
NM_001300854, NM_053283
CCDS: CCDS73478, CCDS8884
Canonical transcript exons
ENST00000293371 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001059308 | 54647121 | 54647159 |
| ENSE00001772814 | 54644589 | 54644756 |
| ENSE00003657486 | 54645173 | 54645262 |
| ENSE00003686117 | 54645606 | 54645707 |
| ENSE00003894174 | 54648246 | 54648365 |
Expression profiles
Bgee: expression breadth ubiquitous, 141 present calls, max score 99.96.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 7.5544 / max 9397.5141, expressed in 16 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131373 | 7.5544 | 16 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper leg skin | UBERON:0004262 | 99.96 | gold quality |
| skin of hip | UBERON:0001554 | 99.83 | gold quality |
| skin of leg | UBERON:0001511 | 97.93 | gold quality |
| zone of skin | UBERON:0000014 | 96.04 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.60 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.14 | silver quality |
| gastrocnemius | UBERON:0001388 | 70.37 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 69.01 | gold quality |
| nipple | UBERON:0002030 | 68.88 | gold quality |
| buccal mucosa cell | CL:0002336 | 68.64 | gold quality |
| sural nerve | UBERON:0015488 | 68.51 | silver quality |
| subcutaneous adipose tissue | UBERON:0002190 | 66.77 | gold quality |
| popliteal artery | UBERON:0002250 | 66.52 | gold quality |
| tibial artery | UBERON:0007610 | 66.44 | gold quality |
| right lung | UBERON:0002167 | 66.10 | gold quality |
| muscle of leg | UBERON:0001383 | 65.83 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 64.27 | gold quality |
| aorta | UBERON:0000947 | 64.07 | gold quality |
| omental fat pad | UBERON:0010414 | 63.96 | gold quality |
| peritoneum | UBERON:0002358 | 63.90 | gold quality |
| heart left ventricle | UBERON:0002084 | 63.53 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 63.41 | gold quality |
| cardiac ventricle | UBERON:0002082 | 62.79 | gold quality |
| right lobe of liver | UBERON:0001114 | 62.60 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 62.46 | gold quality |
| right atrium auricular region | UBERON:0006631 | 62.38 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 62.17 | gold quality |
| tibial nerve | UBERON:0001323 | 62.09 | gold quality |
| cardiac atrium | UBERON:0002081 | 61.82 | gold quality |
| ascending aorta | UBERON:0001496 | 61.42 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75688 | yes | 5211.84 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
5 targeting DCD, 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-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-329-5P | 99.27 | 68.11 | 1597 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-3929 | 98.32 | 65.58 | 1026 |
| HSA-MIR-6742-3P | 97.95 | 64.50 | 1490 |
Literature-anchored findings (GeneRIF, showing 34)
- identified as antibiotic peptide secreted by sweat glands (PMID:11694882)
- Our results confirmed previous findings indicating that dermcidin-1L could have promising therapeutic potentials and shed new light on the structure-function relationship of dermcidin-1L. (PMID:15670776)
- Reduced expression of dermcidin in sweat of patients with atopic dermatitis may contribute to the high susceptibility of these patients to skin infections and altered skin colonization with Staphylococcus aureus. (PMID:15944307)
- NF-kappaB and STAT3 are activated by proteolysis inducing factor in human Kupffer cells and monocytes (PMID:16142329)
- Functional analysis indicated that proteolytic processing of DCD-1L by Cathepsin D in human sweat modulates the innate immune defense of human skin. (PMID:16354654)
- Dermcidin may function as an oncogene in hepatic as well as breast cells; Glycosylation is not required, but the importance of asparagine residues suggests a role for the proteolysis-inducing factor core peptide domain. (PMID:16685272)
- This work suggests that DCD might participate in the regulation of placental function by means of modulating the proteolytic cascades on the trophoblastic cell surface. (PMID:17448443)
- Dermcidin is a proliferation and survival factor in prostate cancer cells subjected to stressors found in the prostate cancer microenvironment. (PMID:17626247)
- These data suggest that the disorder and order transition may be relevant for some biological functions of PIF/DCD. (PMID:18058718)
- There is a growing body of evidence illustrating dermcidin as an oncogene and its Y-P30 subunite as a survival factor (Review) (PMID:18403914)
- Expression of dermcidin in human primary tumours appears highly variable and is not induced substantially by hypoxia/oxidative stress in cell line model systems (PMID:18594538)
- pleiotrophin (PTN) and syndecan-2 and -3 as direct binding partners of Y-P30. (PMID:18599487)
- IRAK-4, which is essential for virtually all TLR signalling, was suppressed, whereas the precursor for the antibiotic peptide Dermcidin was up-regulated in HIV-infected cells. (PMID:19703016)
- Data show that dermcidin adopts a flexible amphipathic alpha-helical structure with a helix-hinge-helix motif, which is a common molecular fold among antimicrobial peptides. (PMID:20510021)
- dermcidin was a novel platelet aggregating agent, and potentiated the ADP induced thrombosis in the animal model as well as acutely inhibited glucose induced insulin synthesis. (PMID:20809104)
- There was a significant correlation between weight loss and survival in the PIF-positive non-small-cell lung cancer patients. (PMID:20837461)
- revealed that Nck1 SH2 domain binds to the phosphotyrosine residue at position 20 (Y20) of the DCD (PMID:21397687)
- Structure-activity analysis of the dermcidin-derived peptide DCD-1L, an anionic antimicrobial peptide present in human sweat. (PMID:22262861)
- major binding partners of LEKTI were found to be the antimicrobial peptide dermcidin and the serine protease cathepsin G and no kallikreins. (PMID:22588119)
- Crystal structure and functional mechanism of a human antimicrobial membrane channel (PMID:23426625)
- Increased Dermcidin was also detected with immunoblotting. (PMID:24562771)
- Data indicate that Y-P30/dermcidin expressed in placentas of first trimester pregnancies. (PMID:24969620)
- Dermcidin binds platelets and may inhibit the therapeutic action of aspirin following acute myocardial infarction. (PMID:25055737)
- Reduced DCD concentration in sweat in patients with inflammatory acne may permit proliferation of P. acnes in pilosebaceous units, resulting in progression of inflammatory acne. (PMID:25673161)
- These findings imply that DCD promotes breast tumorigenesis via modulation of ERBB signaling pathways (PMID:25879571)
- Identification of dermcidin in human sebaceous gland cells supports the concept that sebocytes play an important role in the innate immunity of the skin through the expression of antimicrobial peptides and specific lipids. (PMID:26718508)
- this study shows that PIF regulates systemic immunity and targets protective regulatory and cytoskeleton proteins (PMID:26944449)
- The results of this study suggest that these biomarker DCD can serve as a potential non-invasive early diagnosis platform reflecting PiB-PET imaging for Mild Cognitive Impairment and Alzheimer’s Disease. (PMID:27392853)
- This is the first report of the presence of DCD in nasal mucosa and demonstration of DCD in clinical samples of human nasal secretions at clinically relevant concentrations, which may represent a novel arm of sinonasal airway innate defense. (PMID:27650261)
- the present study suggests that dermcidin is a novel binding protein of lncRNA STCAT3, which serves an important role in the progress and clinical outcome of gastric cancer (PMID:30226544)
- in this paper we have showed that evolutionary new genes DCD1(Dermicidin), LINC00309 and CLLU1 have tumor-specific expression profile (PMID:30463107)
- the stress-induced DCN-2 production in AIHD propagates the inflammatory response. Steroid molecule like estriol plays a protective role by reducing DCN-2 responses in the NO synthesis. (PMID:30734678)
- Exhaled breath condensate analysis suggests that dermcidin and S100A9 may serve as biomarkers for lung cancer diagnosis or prognosis. (PMID:31115649)
- Cell surface GRP78 and Dermcidin cooperate to regulate breast cancer cell migration through Wnt signaling. (PMID:33981001)
Cross-species orthologs
0 orthologs
Paralogs (1): LACRT (ENSG00000135413)
Protein
Protein identifiers
Dermcidin — P81605 (reviewed: P81605)
Alternative names: Preproteolysin
All UniProt accessions (1): P81605
UniProt curated annotations — full annotation on UniProt →
Function. Found in sweat, has an antimicrobial activity during early bacterial colonization. The secreted peptide assembles into homohexameric complexes that can associate with and also insert into pathogen membranes. Once inserted in bacteria membranes forms anion channels probably altering the transmembrane potential essential for bacterial survival. Highly effective against E.coli, E.faecalis, S.aureus and C.albicans. Optimal pH and salt concentration resemble the conditions in sweat. Also exhibits proteolytic activity, cleaving on the C-terminal side of Arg and, to a lesser extent, Lys residues. Promotes survival of neurons and displays phosphatase activity. It may bind IgG.
Subunit / interactions. Homohexamer.
Subcellular location. Secreted Secreted Secreted. Membrane.
Tissue specificity. Detected in urine (at protein level). Constitutively expressed in eccrine sweat gland cells (at protein level). Secreted into the sweat at a concentration of 1-10 micrograms/ml.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P81605-1 | 1 | yes |
| P81605-2 | 2 | |
| P81605-3 | 3 |
RefSeq proteins (2): NP_001287783, NP_444513* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028130 | Dermcidin | Family |
| IPR043557 | Dermcidin/Lacritin | Family |
Pfam: PF15291
UniProt features (22 total): binding site 6, splice variant 3, glycosylation site 2, peptide 2, propeptide 2, signal peptide 1, chain 1, modified residue 1, mutagenesis site 1, helix 1, transmembrane region 1, region of interest 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6SHK | X-RAY DIFFRACTION | 1.99 |
| 2YMK | X-RAY DIFFRACTION | 2.49 |
| 2KSG | SOLUTION NMR | |
| 2NDK | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P81605-F1 | 64.88 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (6): 86; 90; 100 (in chain b); 104 (in chain b); 67 (in chain a); 71 (in chain a)
Post-translational modifications (1): 68
Glycosylation sites (2): 30, 38
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 100 | loss of anion channel activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6803157 | Antimicrobial peptides |
MSigDB gene sets: 43 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_HUMORAL_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_GRAM_NEGATIVE_BACTERIUM, GOBP_DEFENSE_RESPONSE_TO_GRAM_POSITIVE_BACTERIUM, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_SYMBIONT, GOBP_RESPONSE_TO_FUNGUS, GOBP_DEFENSE_RESPONSE_TO_BACTERIUM, GOBP_CELL_KILLING, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_PORE_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOBP_PROTEOLYSIS
GO Biological Process (7): proteolysis (GO:0006508), defense response to bacterium (GO:0042742), defense response to fungus (GO:0050832), obsolete killing by host of symbiont cells (GO:0051873), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), killing of cells of another organism (GO:0031640), monoatomic ion transmembrane transport (GO:0034220)
GO Molecular Function (7): RNA binding (GO:0003723), monoatomic ion channel activity (GO:0005216), peptidase activity (GO:0008233), lipid binding (GO:0008289), metal ion binding (GO:0046872), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), membrane (GO:0016020), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| defense response | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| protein metabolic process | 1 |
| response to bacterium | 1 |
| response to fungus | 1 |
| antimicrobial humoral response | 1 |
| cell killing | 1 |
| disruption of cell in another organism | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| nucleic acid binding | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| channel activity | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| cation binding | 1 |
| catalytic activity | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
149 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STAG2 | RAD21 | psi-mi:“MI:0914”(association) | 0.970 |
| CBX7 | BMI1 | psi-mi:“MI:0914”(association) | 0.940 |
| IFIT1 | IFIT3 | psi-mi:“MI:0914”(association) | 0.920 |
| MED9 | MED19 | psi-mi:“MI:0914”(association) | 0.790 |
| MED26 | MED19 | psi-mi:“MI:0914”(association) | 0.730 |
| ASF1B | HAT1 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| DCD | APPBP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| APPBP2 | DCD | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCD | ASPH | psi-mi:“MI:0915”(physical association) | 0.560 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| ERBB2 | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | CNOT1 | psi-mi:“MI:0914”(association) | 0.480 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| PPP2R2B | DDX3X | psi-mi:“MI:0914”(association) | 0.460 |
| TSC22D1 | KRT1 | psi-mi:“MI:0914”(association) | 0.460 |
| DCD | DCD | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMD6 | DCD | psi-mi:“MI:0915”(physical association) | 0.400 |
| rep | DCD | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD5L | psi-mi:“MI:0915”(physical association) | 0.400 | |
| LECT2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| DCD | IL24 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (246): DCD (Affinity Capture-MS), DCD (Two-hybrid), DCD (Reconstituted Complex), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS), DCD (Affinity Capture-MS)
ESM2 similar proteins: A0A0C4G489, A0A6B9KZ02, A0A6B9L6A5, B3EWG3, B3EWG5, B3EWG6, B4II55, B4PPU6, B9WG30, C0HJX8, D6C4I6, F1T149, F1T150, L0GCW2, O18493, O31557, O96059, O97395, P0DM82, P0DP51, P0DPH1, P0DPH5, P0DQV6, P0DTG2, P0DUE8, P10762, P13404, P21663, P40844, P53707, P80710, P80713, P81605, P82818, P85219, P85222, P86718, P86719, Q07730, Q1JS87
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 192 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Signaling by high-kinase activity BRAF mutants | 5 | 11.9× | 3e-03 |
| MAP2K and MAPK activation | 5 | 10.7× | 4e-03 |
| Signaling by RAF1 mutants | 5 | 10.5× | 4e-03 |
| Signaling by moderate kinase activity BRAF mutants | 5 | 9.5× | 5e-03 |
| Paradoxical activation of RAF signaling by kinase inactive BRAF | 5 | 9.5× | 5e-03 |
| Signaling downstream of RAS mutants | 5 | 9.5× | 5e-03 |
| Regulation of RAS by GAPs | 6 | 8.7× | 3e-03 |
| Loss of Nlp from mitotic centrosomes | 7 | 8.3× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centriole replication | 6 | 26.6× | 1e-04 |
| intrinsic apoptotic signaling pathway | 6 | 13.0× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
20 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
503 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:54645168:CTCA:C | donor_loss | 1.0000 |
| 12:54645169:TCA:T | donor_loss | 1.0000 |
| 12:54645170:CA:C | donor_loss | 1.0000 |
| 12:54645171:ACCT:A | donor_loss | 1.0000 |
| 12:54645172:C:G | donor_loss | 1.0000 |
| 12:54645261:TT:T | acceptor_gain | 1.0000 |
| 12:54645262:TCTAG:T | acceptor_loss | 1.0000 |
| 12:54645263:C:CC | acceptor_gain | 1.0000 |
| 12:54645264:T:A | acceptor_loss | 1.0000 |
| 12:54645268:G:C | acceptor_gain | 1.0000 |
| 12:54645268:G:GC | acceptor_gain | 1.0000 |
| 12:54645275:C:CT | acceptor_gain | 1.0000 |
| 12:54645276:A:T | acceptor_gain | 1.0000 |
| 12:54647119:A:AC | donor_gain | 1.0000 |
| 12:54647120:C:CC | donor_gain | 1.0000 |
| 12:54645258:TTTTT:T | acceptor_gain | 0.9900 |
| 12:54645259:TTTT:T | acceptor_gain | 0.9900 |
| 12:54645260:TTT:T | acceptor_gain | 0.9900 |
| 12:54645599:GGCTT:G | donor_loss | 0.9900 |
| 12:54645600:GCTTA:G | donor_loss | 0.9900 |
| 12:54645601:CTT:C | donor_loss | 0.9900 |
| 12:54645602:TTA:T | donor_loss | 0.9900 |
| 12:54645603:TACCC:T | donor_loss | 0.9900 |
| 12:54645604:AC:A | donor_gain | 0.9900 |
| 12:54645604:ACCCA:A | donor_loss | 0.9900 |
| 12:54645605:C:A | donor_loss | 0.9900 |
| 12:54645605:CC:C | donor_gain | 0.9900 |
| 12:54645704:CAAG:C | acceptor_gain | 0.9900 |
| 12:54645706:AG:A | acceptor_gain | 0.9900 |
| 12:54645708:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
692 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:54648272:G:T | A11D | 0.964 |
| 12:54648295:G:C | F3L | 0.943 |
| 12:54648295:G:T | F3L | 0.943 |
| 12:54648297:A:G | F3L | 0.943 |
| 12:54648266:G:T | A13E | 0.923 |
| 12:54648260:G:T | A15D | 0.911 |
| 12:54648264:C:G | G14R | 0.911 |
| 12:54648264:C:T | G14R | 0.911 |
| 12:54648254:A:T | V17D | 0.910 |
| 12:54648278:A:C | L9R | 0.909 |
| 12:54648269:A:C | L12R | 0.903 |
| 12:54648284:A:T | L7H | 0.895 |
| 12:54648284:A:C | L7R | 0.886 |
| 12:54648275:G:T | T10K | 0.877 |
| 12:54644738:T:A | K103I | 0.874 |
| 12:54648278:A:G | L9P | 0.872 |
| 12:54648269:A:G | L12P | 0.866 |
| 12:54648280:G:C | F8L | 0.862 |
| 12:54648280:G:T | F8L | 0.862 |
| 12:54648282:A:G | F8L | 0.862 |
| 12:54648287:A:T | L6H | 0.856 |
| 12:54648252:A:G | C18R | 0.852 |
| 12:54648257:A:G | L16P | 0.852 |
| 12:54644737:T:A | K103N | 0.851 |
| 12:54644737:T:G | K103N | 0.851 |
| 12:54648273:C:G | A11P | 0.850 |
| 12:54648278:A:T | L9Q | 0.849 |
| 12:54648263:C:T | G14E | 0.848 |
| 12:54648261:C:G | A15P | 0.845 |
| 12:54648269:A:T | L12Q | 0.843 |
dbSNP variants (sampled 300 via entrez): RS1002139151 (12:54648505 T>G), RS1002144556 (12:54648389 T>A,C), RS1002426888 (12:54650123 G>A), RS1002646146 (12:54644262 C>T), RS1002789379 (12:54644818 A>C,G), RS1003075248 (12:54649007 C>T), RS1004413482 (12:54649352 T>C), RS1004444731 (12:54649124 T>C), RS1005314565 (12:54646070 T>C), RS1005535169 (12:54646870 A>G), RS1005590259 (12:54645750 C>G), RS1006190159 (12:54644574 C>T), RS1006729670 (12:54644807 A>C,G,T), RS1006993767 (12:54647510 A>C), RS1007162942 (12:54646255 G>A,T)
Disease associations
OMIM: gene MIM:606634 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000167_9 | Type 2 diabetes | 2.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523267 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium | decreases expression, affects binding | 2 |
| Nickel | decreases expression | 2 |
| sodium arsenite | affects cotreatment, increases expression | 1 |
| CV 6504 | decreases reaction, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| thrombin receptor-activating peptide SFLLRNPNDKY | decreases reaction, increases secretion | 1 |
| nickel acetate | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Aspirin | decreases reaction, increases secretion, decreases secretion | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Benztropine | decreases expression | 1 |
| Clozapine | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | increases expression | 1 |
| Lead | affects binding | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | affects cotreatment, increases expression | 1 |
| Zinc | affects binding | 1 |
| Eicosapentaenoic Acid | decreases reaction, increases expression | 1 |
| Gold Compounds | increases expression | 1 |
| Cadmium Chloride | affects expression | 1 |
| Magnetite Nanoparticles | increases expression | 1 |
ChEMBL screening assays
11 unique, capped per target: 11 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4421012 | Binding | Binding affinity to dermcidin in human HCT116 cell lysates at 3 to 30 uM incubated for 8 hrs by anti-IAF mAb based immunoprecipitation assay | Seriniquinones, melanoma-specific anticancer agents |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.