CAPN14
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Summary
CAPN14 (calpain 14, HGNC:16664) is a protein-coding gene on chromosome 2p23.1, encoding Calpain-14 (A8MX76). Calcium-regulated non-lysosomal thiol-protease.
Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.
Source: NCBI Gene 440854 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 159 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001145122
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16664 |
| Approved symbol | CAPN14 |
| Name | calpain 14 |
| Location | 2p23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000214711 |
| Ensembl biotype | protein_coding |
| OMIM | 610229 |
| Entrez | 440854 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay
ENST00000398824, ENST00000403897, ENST00000944770
RefSeq mRNA: 2 — MANE Select: NM_001145122
NM_001145122, NM_001321270
CCDS: CCDS46254
Canonical transcript exons
ENST00000403897 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001535159 | 31201862 | 31201998 |
| ENSE00001558806 | 31217456 | 31217515 |
| ENSE00001772075 | 31202134 | 31202252 |
| ENSE00001792779 | 31203070 | 31203139 |
| ENSE00001896824 | 31173056 | 31174707 |
| ENSE00002224663 | 31205223 | 31205499 |
| ENSE00003470526 | 31193131 | 31193294 |
| ENSE00003502361 | 31186428 | 31186485 |
| ENSE00003513620 | 31194409 | 31194483 |
| ENSE00003514953 | 31188318 | 31188354 |
| ENSE00003527385 | 31191399 | 31191407 |
| ENSE00003531623 | 31197249 | 31197334 |
| ENSE00003538065 | 31177026 | 31177142 |
| ENSE00003560384 | 31187758 | 31187814 |
| ENSE00003578046 | 31189273 | 31189478 |
| ENSE00003582110 | 31200451 | 31200625 |
| ENSE00003594339 | 31178511 | 31178579 |
| ENSE00003622671 | 31177746 | 31177821 |
| ENSE00003664099 | 31176587 | 31176642 |
| ENSE00003673166 | 31199470 | 31199532 |
| ENSE00003678738 | 31180936 | 31181000 |
| ENSE00003693652 | 31191935 | 31192098 |
Expression profiles
Bgee: expression breadth ubiquitous, 116 present calls, max score 99.35.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2712 / max 218.5143, expressed in 27 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27680 | 0.2712 | 27 |
Top tissues by expression
207 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.35 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 97.71 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.69 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.22 | gold quality |
| oral cavity | UBERON:0000167 | 92.58 | gold quality |
| amniotic fluid | UBERON:0000173 | 84.73 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.72 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 73.09 | gold quality |
| esophagus | UBERON:0001043 | 72.65 | gold quality |
| tonsil | UBERON:0002372 | 70.93 | gold quality |
| body of tongue | UBERON:0011876 | 61.98 | gold quality |
| tongue | UBERON:0001723 | 60.75 | gold quality |
| vagina | UBERON:0000996 | 60.34 | gold quality |
| superior surface of tongue | UBERON:0007371 | 60.20 | gold quality |
| cortical plate | UBERON:0005343 | 60.09 | gold quality |
| gingival epithelium | UBERON:0001949 | 59.63 | silver quality |
| gingiva | UBERON:0001828 | 59.22 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 57.69 | silver quality |
| palpebral conjunctiva | UBERON:0001812 | 55.70 | gold quality |
| lymph node | UBERON:0000029 | 55.11 | gold quality |
| bone marrow cell | CL:0002092 | 54.89 | silver quality |
| buccal mucosa cell | CL:0002336 | 54.42 | gold quality |
| mouth mucosa | UBERON:0003729 | 53.77 | gold quality |
| lower lobe of lung | UBERON:0008949 | 53.54 | silver quality |
| minor salivary gland | UBERON:0001830 | 53.16 | gold quality |
| skin of leg | UBERON:0001511 | 52.96 | gold quality |
| vermiform appendix | UBERON:0001154 | 52.54 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 52.51 | gold quality |
| ganglionic eminence | UBERON:0004023 | 52.40 | silver quality |
| granulocyte | CL:0000094 | 52.18 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting CAPN14, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-5009-3P | 99.45 | 69.43 | 1341 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-6768-3P | 99.14 | 67.38 | 1319 |
| HSA-MIR-5100 | 99.11 | 67.52 | 1098 |
| HSA-MIR-4699-5P | 98.99 | 67.50 | 1210 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-153-3P | 98.96 | 72.51 | 1644 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
Literature-anchored findings (GeneRIF, showing 5)
- Eosinophilic esophagitis was associate with increased expression of CAPN14. (PMID:25407941)
- CAPN14 is a unique protease with distinct tissue-specific expression and function in patients with EoE and is a potential therapeutic target for EoE and related eosinophilic and allergic diseases (PMID:28131390)
- The risk variant (SNP) in CAPN14 promoter dampens CAPN14 expression in differentiated esophageal epithelial cells following IL-13/STAT6 induction of CAPN14 promoter activity. (PMID:30626591)
- Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects. (PMID:33008138)
- Very early onset eosinophilic esophagitis is common, responds to standard therapy, and demonstrates enrichment for CAPN14 genetic variants. (PMID:33446329)
Cross-species orthologs
13 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:136872 | ENSDARG00000008553 |
| danio_rerio | si:ch211-202f3.3 | ENSDARG00000052917 |
| danio_rerio | zgc:162184 | ENSDARG00000077217 |
| danio_rerio | si:ch211-202f3.4 | ENSDARG00000091723 |
| caenorhabditis_elegans | WBGENE00000542 | |
| caenorhabditis_elegans | clp-3 | WBGENE00000544 |
| caenorhabditis_elegans | WBGENE00000546 | |
| caenorhabditis_elegans | WBGENE00000547 | |
| caenorhabditis_elegans | WBGENE00006606 | |
| caenorhabditis_elegans | clp-8 | WBGENE00009695 |
| caenorhabditis_elegans | clpr-3 | WBGENE00010417 |
| caenorhabditis_elegans | clpr-1 | WBGENE00012233 |
| caenorhabditis_elegans | clpr-3 | WBGENE00013184 |
Paralogs (20): CAPN1 (ENSG00000014216), SRI (ENSG00000075142), CAPN6 (ENSG00000077274), CAPN3 (ENSG00000092529), CAPN15 (ENSG00000103326), GCA (ENSG00000115271), ADGB (ENSG00000118492), CAPNS1 (ENSG00000126247), CAPN7 (ENSG00000131375), CAPN9 (ENSG00000135773), CAPN11 (ENSG00000137225), CAPN10 (ENSG00000142330), CAPN5 (ENSG00000149260), PEF1 (ENSG00000162517), CAPN2 (ENSG00000162909), CAPN13 (ENSG00000162949), CAPN12 (ENSG00000182472), CAPN8 (ENSG00000203697), PDCD6 (ENSG00000249915), CAPNS2 (ENSG00000256812)
Protein
Protein identifiers
Calpain-14 — A8MX76 (reviewed: A8MX76)
Alternative names: Calcium-activated neutral proteinase 14
All UniProt accessions (2): A8MX76, F1LLU4
UniProt curated annotations — full annotation on UniProt →
Function. Calcium-regulated non-lysosomal thiol-protease.
Tissue specificity. Not expressed in tissues tested.
Similarity. Belongs to the peptidase C2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A8MX76-1 | 1 | yes |
| A8MX76-2 | 2 |
RefSeq proteins (2): NP_001138594, NP_001308199 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000169 | Pept_cys_AS | Active_site |
| IPR001300 | Peptidase_C2_calpain_cat | Domain |
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR022682 | Calpain_domain_III | Domain |
| IPR022683 | Calpain_III | Domain |
| IPR022684 | Calpain_cysteine_protease | Family |
| IPR033883 | C2_III | Domain |
| IPR036213 | Calpain_III_sf | Homologous_superfamily |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
Pfam: PF00648, PF01067
UniProt features (18 total): binding site 5, domain 4, active site 3, region of interest 3, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A8MX76-F1 | 86.02 | 0.55 |
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 (3): 278; 101; 254
Ligand- & substrate-binding residues (5): 570; 572; 574; 576; 581
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1474228 | Degradation of the extracellular matrix |
| R-HSA-1474244 | Extracellular matrix organization |
MSigDB gene sets: 38 (showing top):
GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_CALCIUM_DEPENDENT_CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY, NFKBIA_TARGET_GENES, ZNF618_TARGET_GENES, ZSCAN30_TARGET_GENES, ZSCAN31_TARGET_GENES, MIR4729, MIR8068, MIR205_3P, MIR3942_3P, MIR4760_5P, MIR6505_5P
GO Biological Process (1): proteolysis (GO:0006508)
GO Molecular Function (6): calcium-dependent cysteine-type endopeptidase activity (GO:0004198), calcium ion binding (GO:0005509), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (1): cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein metabolic process | 1 |
| cysteine-type endopeptidase activity | 1 |
| metal ion binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
971 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CAPN14 | DSG1 | Q02413 | 700 |
| CAPN14 | CCL26 | Q9Y258 | 667 |
| CAPN14 | TSLP | Q969D9 | 622 |
| CAPN14 | EMSY | Q7Z589 | 600 |
| CAPN14 | CDH26 | Q8IXH8 | 584 |
| CAPN14 | FLG | P20930 | 581 |
| CAPN14 | SPINK7 | P58062 | 580 |
| CAPN14 | ANKRD27 | Q96NW4 | 574 |
| CAPN14 | LRRC31 | Q6UY01 | 571 |
| CAPN14 | FLG2 | Q5D862 | 571 |
| CAPN14 | EPC2 | Q52LR7 | 557 |
| CAPN14 | WDR36 | Q8NI36 | 520 |
| CAPN14 | GALNT14 | Q96FL9 | 506 |
| CAPN14 | CALML6 | Q8TD86 | 501 |
| CAPN14 | CALML5 | Q9NZT1 | 501 |
| CAPN14 | CALML4 | Q96GE6 | 501 |
IntAct
0 interactions, top by confidence:
BioGRID (2): CAPN3 (Negative Genetic), CAPN14 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A8C2MDK8, A0A8I6GM68, A6H751, A7YY46, A8MX76, D3YXS5, D3ZBP4, D3ZEY4, E7F9T0, E9QAM5, F1MH07, F1QCV2, F8WLE0, P16452, P23249, P48760, P49222, P52824, Q2NKY8, Q2QWU2, Q3SYT1, Q3ZBE0, Q4R380, Q50L43, Q5BJS0, Q5NCQ5, Q5R607, Q5RKI3, Q5ZI74, Q69ZP3, Q6P5E8, Q6ZSI9, Q7L2E3, Q8BX80, Q8N490, Q8NFD2, Q8NFI3, Q8TDZ2, Q8TE96, Q8VDP3
Diamond homologs: A6NHC0, A8MX76, G3V7W1, O08529, O08688, O14815, O15484, O23184, O35350, O35646, O35920, O75808, O88456, O88501, P00789, P04574, P04632, P05044, P06813, P06814, P06815, P07384, P13135, P16259, P17655, P20807, P27398, P27730, P28676, P30626, P34308, P35750, P43367, P43368, P51186, P97571, Q07009, Q11002, Q22036, Q27970
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
159 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 127 |
| Likely benign | 12 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2865 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:31177024:AC:A | donor_gain | 1.0000 |
| 2:31177025:CC:C | donor_gain | 1.0000 |
| 2:31186426:A:AC | donor_gain | 1.0000 |
| 2:31186427:C:CC | donor_gain | 1.0000 |
| 2:31187753:CTAA:C | donor_loss | 1.0000 |
| 2:31187754:TAACC:T | donor_loss | 1.0000 |
| 2:31187812:CTC:C | acceptor_gain | 1.0000 |
| 2:31187813:TCC:T | acceptor_loss | 1.0000 |
| 2:31187816:T:A | acceptor_loss | 1.0000 |
| 2:31188355:C:CC | acceptor_gain | 1.0000 |
| 2:31189271:A:AC | donor_gain | 1.0000 |
| 2:31189272:C:CC | donor_gain | 1.0000 |
| 2:31189286:T:TA | donor_gain | 1.0000 |
| 2:31189359:C:A | donor_gain | 1.0000 |
| 2:31191930:CCTA:C | donor_loss | 1.0000 |
| 2:31191931:CTA:C | donor_loss | 1.0000 |
| 2:31191932:TACC:T | donor_loss | 1.0000 |
| 2:31191933:A:T | donor_loss | 1.0000 |
| 2:31191933:AC:A | donor_gain | 1.0000 |
| 2:31191934:CC:C | donor_gain | 1.0000 |
| 2:31192094:TGTGT:T | acceptor_gain | 1.0000 |
| 2:31192099:C:CC | acceptor_gain | 1.0000 |
| 2:31193129:AC:A | donor_gain | 1.0000 |
| 2:31193130:CC:C | donor_gain | 1.0000 |
| 2:31194431:T:A | donor_gain | 1.0000 |
| 2:31199465:CCCA:C | donor_loss | 1.0000 |
| 2:31199467:CAC:C | donor_loss | 1.0000 |
| 2:31199468:A:T | donor_loss | 1.0000 |
| 2:31199468:ACCTT:A | donor_gain | 1.0000 |
| 2:31199469:CCTTC:C | donor_gain | 1.0000 |
AlphaMissense
4526 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:31194411:G:C | F316L | 0.991 |
| 2:31194411:G:T | F316L | 0.991 |
| 2:31194413:A:G | F316L | 0.991 |
| 2:31205237:A:G | W71R | 0.988 |
| 2:31205237:A:T | W71R | 0.988 |
| 2:31189308:G:C | F486L | 0.981 |
| 2:31189308:G:T | F486L | 0.981 |
| 2:31189310:A:G | F486L | 0.981 |
| 2:31201873:C:A | K180N | 0.981 |
| 2:31201873:C:G | K180N | 0.981 |
| 2:31201875:T:G | K180Q | 0.981 |
| 2:31201876:T:A | E179D | 0.981 |
| 2:31201876:T:G | E179D | 0.981 |
| 2:31205235:C:A | W71C | 0.981 |
| 2:31205235:C:G | W71C | 0.981 |
| 2:31202137:G:C | F137L | 0.979 |
| 2:31202137:G:T | F137L | 0.979 |
| 2:31202139:A:G | F137L | 0.979 |
| 2:31201893:A:G | W174R | 0.977 |
| 2:31201893:A:T | W174R | 0.977 |
| 2:31205301:G:C | F49L | 0.977 |
| 2:31205301:G:T | F49L | 0.977 |
| 2:31205303:A:G | F49L | 0.977 |
| 2:31201955:C:G | R153P | 0.976 |
| 2:31202143:G:C | F135L | 0.976 |
| 2:31202143:G:T | F135L | 0.976 |
| 2:31202145:A:G | F135L | 0.976 |
| 2:31197271:A:G | W285R | 0.975 |
| 2:31197271:A:T | W285R | 0.975 |
| 2:31201952:A:G | L154P | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000022165 (2:31177956 A>G), RS1000053213 (2:31177718 C>G), RS1000088910 (2:31220308 G>A,C), RS1000145610 (2:31209998 C>T), RS1000372712 (2:31225200 C>G), RS1000387407 (2:31230825 T>C), RS1000423002 (2:31204364 T>C), RS1000514769 (2:31210918 G>A), RS1000536628 (2:31173915 T>C), RS1000538283 (2:31209854 T>C), RS1000609770 (2:31210961 T>C), RS1000612998 (2:31214813 TG>T), RS1000692348 (2:31205863 G>A), RS1000865830 (2:31184412 C>A,T), RS1000882377 (2:31184738 T>A)
Disease associations
OMIM: gene MIM:610229 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): amyotrophic lateral sclerosis (MONDO:0004976)
Orphanet (1): Amyotrophic lateral sclerosis (Orphanet:803)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0007354 | Amyotrophic lateral sclerosis |
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002527_3 | Eosinophilic esophagitis | 3.000000e-10 |
| GCST002697_1 | Eosinophilic esophagitis | 5.000000e-10 |
| GCST004368_4 | Endometriosis | 6.000000e-07 |
| GCST011387_2 | Vaginal microbiome composition (L. iners) | 2.000000e-06 |
| GCST011387_3 | Vaginal microbiome composition (L. iners) | 4.000000e-06 |
| GCST012380_1 | Eosinophilic esophagitis | 2.000000e-06 |
| GCST012381_1 | Eosinophilic esophagitis | 3.000000e-16 |
| GCST90002401_370 | Platelet distribution width | 2.000000e-12 |
| GCST90026416_13 | Mild age-related type 2 diabetes | 3.000000e-06 |
| GCST90027899_1 | Eosinophilic esophagitis | 3.000000e-16 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0011013 | vaginal microbiome measurement |
| EFO:0007984 | platelet component distribution width |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000690 | Amyotrophic Lateral Sclerosis | C10.228.854.139; C10.574.562.250; C10.574.950.050; C10.668.467.250; C18.452.845.800.050 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression | 2 |
| aflatoxin B2 | increases methylation | 1 |
| bisphenol S | decreases methylation | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Lead | increases expression | 1 |
| Sodium Dodecyl Sulfate | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00542412 | PHASE4 | COMPLETED | CARE Canadian ALS Riluzole Evaluation |
| NCT00560287 | PHASE4 | UNKNOWN | Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis |
| NCT00613899 | PHASE4 | COMPLETED | Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) |
| NCT04997954 | PHASE4 | UNKNOWN | EMERALD TRIAL Open Label Extension Study |
| NCT06849115 | PHASE4 | COMPLETED | Effects of L-Carnitine in Amyotrophic Lateral Sclerosis Patients With CHCHD10 Mutations |
| NCT07223723 | PHASE4 | RECRUITING | A Study to Learn More About the Long-Term Safety of Tofersen (Qalsody) in Chinese Participants With SOD-1 Amyotrophic Lateral Sclerosis (ALS) |
| NCT00021697 | PHASE3 | COMPLETED | Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS |
| NCT00035815 | PHASE3 | COMPLETED | Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial |
| NCT00047723 | PHASE3 | COMPLETED | Minocycline to Treat Amyotrophic Lateral Sclerosis |
| NCT00069186 | PHASE3 | UNKNOWN | Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis |
| NCT00136110 | PHASE3 | COMPLETED | Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis |
| NCT00330681 | PHASE3 | COMPLETED | Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) |
| NCT00349622 | PHASE3 | COMPLETED | Clinical Trial Ceftriaxone in Subjects With ALS |
| NCT00372879 | PHASE3 | COMPLETED | Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS |
| NCT00415519 | PHASE3 | COMPLETED | Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Who Met Severity Classification III |
| NCT00424463 | PHASE3 | COMPLETED | Expanded Controlled Study of Safety and Efficacy of MCI-186 in Patients With Amyotrophic Lateral Sclerosis (ALS) |
| NCT00839033 | PHASE3 | TERMINATED | Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders |
| NCT00868166 | PHASE3 | COMPLETED | Safety and Efficacy of TRO19622 as add-on Therapy to Riluzole Versus Placebo in Treatment of Patients Suffering From ALS |
| NCT00965497 | PHASE3 | COMPLETED | Escitalopram (Lexapro) for Depression MS or ALS |
| NCT01016522 | PHASE3 | TERMINATED | Safety and Tolerability of the Ketogenic Diet in Amyotrophic Lateral Sclerosis (ALS) |
| NCT01160263 | PHASE3 | COMPLETED | Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls |
| NCT01281189 | PHASE3 | COMPLETED | Phase 3 Study of Dexpramipexole in ALS |
| NCT01492686 | PHASE3 | COMPLETED | Phase 3 Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis |
| NCT01583088 | PHASE3 | TERMINATED | Early Stage Amyotrophic Lateral Sclerosis Phrenic Stimulation |
| NCT01622088 | PHASE3 | TERMINATED | Phase 3 Extension Study of Dexpramipexole in ALS |
| NCT02496767 | PHASE3 | COMPLETED | Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year |
| NCT02623699 | PHASE3 | COMPLETED | An Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of BIIB067 (Tofersen) in Adults With Inherited Amyotrophic Lateral Sclerosis (ALS) |
| NCT02936635 | PHASE3 | COMPLETED | A Study for Patients Who Completed VITALITY-ALS (CY 4031) |
| NCT03127267 | PHASE3 | RECRUITING | Efficacy and Safety of Masitinib Versus Placebo in the Treatment of ALS Patients |
| NCT03280056 | PHASE3 | COMPLETED | Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients |
| NCT03491462 | PHASE3 | COMPLETED | Arimoclomol in Amyotropic Lateral Sclerosis |
| NCT03505021 | PHASE3 | COMPLETED | Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS |
| NCT03548311 | PHASE3 | COMPLETED | Clinical Trial of Ultra-high Dose Methylcobalamin for ALS |
| NCT03690791 | PHASE3 | UNKNOWN | Efficacy of Cannabinoids in Amyotrophic Lateral Sclerosis or Motor Neurone Disease |
| NCT03800524 | PHASE3 | UNKNOWN | Safety and Efficacy of TUDCA as add-on Treatment in Patients Affected by ALS |
| NCT03836716 | PHASE3 | TERMINATED | Arimoclomol in Amyotropic Lateral Sclerosis - Open Label Extension Trial |
| NCT03948178 | PHASE3 | TERMINATED | Effects of Oral Levosimendan on Respiratory Function in Patients With Amyotrophic Lateral Sclerosis (ALS): Open-Label Extension |
| NCT04165824 | PHASE3 | COMPLETED | Safety Study of Oral Edaravone Administered in Subjects With ALS |
| NCT04248465 | PHASE3 | TERMINATED | An Efficacy and Safety Study of Ravulizumab in ALS Participants |
| NCT04569084 | PHASE3 | TERMINATED | Efficacy and Safety Study of Oral Edaravone Administered in Subjects With ALS |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): amyotrophic lateral sclerosis, endometriosis, eosinophilic esophagitis