UNC13C
gene geneOn this page
Also known as Munc13-3DKFZp547H074
Summary
UNC13C (unc-13 homolog C, HGNC:23149) is a protein-coding gene on chromosome 15q21.3, encoding Protein unc-13 homolog C (Q8NB66). May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway.
Predicted to enable calmodulin binding activity and syntaxin-1 binding activity. Predicted to be involved in glutamatergic synaptic transmission and regulated exocytosis. Predicted to be located in presynaptic active zone. Predicted to be active in several cellular components, including axon terminus; parallel fiber to Purkinje cell synapse; and synaptic vesicle membrane.
Source: NCBI Gene 440279 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 329 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001080534
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23149 |
| Approved symbol | UNC13C |
| Name | unc-13 homolog C |
| Location | 15q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Munc13-3, DKFZp547H074 |
| Ensembl gene | ENSG00000137766 |
| Ensembl biotype | protein_coding |
| OMIM | 614568 |
| Entrez | 440279 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron
ENST00000260323, ENST00000539562, ENST00000559093, ENST00000560537, ENST00000561210, ENST00000647821
RefSeq mRNA: 2 — MANE Select: NM_001080534
NM_001080534, NM_001329919
CCDS: CCDS45264, CCDS92002
Canonical transcript exons
ENST00000260323 — 33 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000689765 | 54250225 | 54250444 |
| ENSE00000689767 | 54264168 | 54264395 |
| ENSE00000941896 | 54494608 | 54494734 |
| ENSE00000941897 | 54500079 | 54500175 |
| ENSE00000941898 | 54500835 | 54500978 |
| ENSE00000941901 | 54546722 | 54546845 |
| ENSE00001000313 | 54507117 | 54507194 |
| ENSE00001000316 | 54525549 | 54525637 |
| ENSE00001000321 | 54532917 | 54533066 |
| ENSE00001186398 | 54237619 | 54237690 |
| ENSE00001186405 | 54235030 | 54235108 |
| ENSE00001247127 | 54567800 | 54567947 |
| ENSE00001247134 | 54555432 | 54555512 |
| ENSE00001247140 | 54549635 | 54549691 |
| ENSE00001724132 | 54143018 | 54143040 |
| ENSE00001796302 | 54236430 | 54236435 |
| ENSE00001800767 | 54143620 | 54143684 |
| ENSE00001806419 | 54511753 | 54511830 |
| ENSE00002566051 | 54626828 | 54628605 |
| ENSE00003478478 | 54293895 | 54294064 |
| ENSE00003489290 | 54265355 | 54265496 |
| ENSE00003492478 | 54332043 | 54332111 |
| ENSE00003498184 | 54321939 | 54322095 |
| ENSE00003503412 | 54414982 | 54415067 |
| ENSE00003529084 | 54622327 | 54622419 |
| ENSE00003539335 | 54338361 | 54338489 |
| ENSE00003553413 | 54393048 | 54393181 |
| ENSE00003584308 | 54623795 | 54623954 |
| ENSE00003604875 | 54300210 | 54300373 |
| ENSE00003611637 | 54333767 | 54333856 |
| ENSE00003683694 | 54297811 | 54297926 |
| ENSE00003840030 | 54012648 | 54015886 |
| ENSE00003919850 | 53978441 | 53978927 |
Expression profiles
Bgee: expression breadth ubiquitous, 174 present calls, max score 99.53.
FANTOM5 (CAGE): breadth broad, TPM avg 3.3901 / max 920.6575, expressed in 184 samples.
FANTOM5 promoters (15 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146743 | 1.2173 | 132 |
| 146739 | 0.4820 | 97 |
| 146745 | 0.3892 | 88 |
| 146736 | 0.2670 | 79 |
| 146738 | 0.2549 | 84 |
| 146737 | 0.2444 | 80 |
| 146746 | 0.1668 | 62 |
| 146740 | 0.1487 | 62 |
| 146747 | 0.0586 | 23 |
| 146748 | 0.0396 | 10 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.53 | gold quality |
| oocyte | CL:0000023 | 99.43 | gold quality |
| endothelial cell | CL:0000115 | 98.96 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.92 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.82 | gold quality |
| cerebellar vermis | UBERON:0004720 | 94.98 | gold quality |
| pons | UBERON:0000988 | 93.91 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.53 | gold quality |
| cerebellum | UBERON:0002037 | 93.40 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.15 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.03 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.93 | gold quality |
| occipital lobe | UBERON:0002021 | 92.43 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.60 | gold quality |
| amygdala | UBERON:0001876 | 91.28 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.25 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.06 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.98 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.18 | gold quality |
| postcentral gyrus | UBERON:0002581 | 89.61 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.60 | gold quality |
| parietal lobe | UBERON:0001872 | 89.34 | gold quality |
| temporal lobe | UBERON:0001871 | 89.16 | gold quality |
| neocortex | UBERON:0001950 | 89.15 | gold quality |
| frontal cortex | UBERON:0001870 | 88.95 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.46 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.24 | gold quality |
| cerebral cortex | UBERON:0000956 | 87.18 | gold quality |
| entorhinal cortex | UBERON:0002728 | 86.46 | gold quality |
| midbrain | UBERON:0001891 | 86.05 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-11 | yes | 27.67 |
| E-HCAD-25 | yes | 9.00 |
| E-ANND-3 | yes | 7.29 |
| E-MTAB-8060 | no | 255.72 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 2)
- Circ-KIAA0907 inhibits the progression of oral squamous cell carcinoma by regulating the miR-96-5p/UNC13C axis. (PMID:33715625)
- Prognostic and Clinical Implications of UNC13C expression in Hepatocellular Carcinoma Patients. (PMID:37575271)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | unc13c | ENSDARG00000112435 |
| mus_musculus | Unc13c | ENSMUSG00000062151 |
| rattus_norvegicus | Unc13c | ENSRNOG00000056612 |
Paralogs (2): UNC13A (ENSG00000130477), UNC13B (ENSG00000198722)
Protein
Protein identifiers
Protein unc-13 homolog C — Q8NB66 (reviewed: Q8NB66)
Alternative names: Munc13-3
All UniProt accessions (5): Q8NB66, A0A0C4DGH4, A0A3B3ISZ1, H0YL13, H3BRP8
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses.
Subunit / interactions. Interacts with STX1A and/or STX1B1, VAMP2 and SNAP25.
Subcellular location. Cytoplasm. Membrane. Presynaptic cell membrane.
Tissue specificity. Exclusively expressed in brain.
Domain organisation. The C2 domains are not involved in calcium-dependent phospholipid binding.
Similarity. Belongs to the unc-13 family.
RefSeq proteins (2): NP_001074003, NP_001316848 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR002219 | PKC_DAG/PE | Domain |
| IPR010439 | MUN_dom | Domain |
| IPR014770 | Munc13_1 | Domain |
| IPR014772 | Munc13_dom-2 | Domain |
| IPR027080 | Unc-13 | Family |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
| IPR037302 | Unc-13_C2B | Domain |
| IPR046349 | C1-like_sf | Homologous_superfamily |
Pfam: PF00130, PF00168, PF06292
UniProt features (39 total): binding site 8, region of interest 7, compositionally biased region 7, domain 4, modified residue 4, sequence variant 4, coiled-coil region 2, chain 1, sequence conflict 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NB66-F1 | 61.64 | 0.18 |
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 (8): 1236; 1236; 1242; 1288; 1288; 1290; 1290; 1307
Post-translational modifications (4): 89, 448, 452, 788
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 129 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_VESICLE_LOCALIZATION, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_MEMBRANE_DOCKING, GOBP_EXOCYTOSIS, GOBP_REGULATION_OF_SYNAPTIC_PLASTICITY, GOBP_VESICLE_DOCKING_INVOLVED_IN_EXOCYTOSIS, GOBP_SECRETION, GOBP_SIGNAL_RELEASE, GOBP_CALCIUM_ION_REGULATED_EXOCYTOSIS, GOBP_SYNAPTIC_SIGNALING, GOCC_NEURON_PROJECTION, GOBP_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC
GO Biological Process (8): chemical synaptic transmission (GO:0007268), obsolete synaptic vesicle docking (GO:0016081), synaptic vesicle priming (GO:0016082), negative regulation of synaptic plasticity (GO:0031914), synaptic transmission, glutamatergic (GO:0035249), dense core granule priming (GO:0061789), exocytosis (GO:0006887), synaptic vesicle exocytosis (GO:0016079)
GO Molecular Function (7): calcium ion binding (GO:0005509), calmodulin binding (GO:0005516), phospholipid binding (GO:0005543), zinc ion binding (GO:0008270), syntaxin-1 binding (GO:0017075), diacylglycerol binding (GO:0019992), metal ion binding (GO:0046872)
GO Cellular Component (13): plasma membrane (GO:0005886), synaptic vesicle membrane (GO:0030672), neuromuscular junction (GO:0031594), presynaptic membrane (GO:0042734), terminal bouton (GO:0043195), calyx of Held (GO:0044305), presynaptic active zone (GO:0048786), parallel fiber to Purkinje cell synapse (GO:0098688), cytoplasm (GO:0005737), membrane (GO:0016020), cell projection (GO:0042995), synapse (GO:0045202), presynapse (GO:0098793)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| presynapse | 4 |
| protein-containing complex assembly | 2 |
| exocytic process | 2 |
| lipid binding | 2 |
| synapse | 2 |
| axon terminus | 2 |
| anterograde trans-synaptic signaling | 1 |
| synaptic vesicle exocytosis | 1 |
| regulation of synaptic plasticity | 1 |
| chemical synaptic transmission | 1 |
| dense core granule exocytosis | 1 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| neurotransmitter secretion | 1 |
| regulated exocytosis | 1 |
| establishment of localization in cell | 1 |
| vesicle-mediated transport in synapse | 1 |
| synaptic vesicle cycle | 1 |
| signal release from synapse | 1 |
| metal ion binding | 1 |
| protein binding | 1 |
| transition metal ion binding | 1 |
| syntaxin binding | 1 |
| cation binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| synaptic membrane | 1 |
| excitatory synapse | 1 |
| intracellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1222 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UNC13C | COL4A1 | P02462 | 636 |
| UNC13C | STXBP1 | P61764 | 633 |
| UNC13C | RAB34 | Q9BZG1 | 554 |
| UNC13C | RIMS1 | Q86UR5 | 514 |
| UNC13C | SNAP25 | P13795 | 493 |
| UNC13C | CADM2 | Q8N3J6 | 437 |
| UNC13C | RIMBP2 | O15034 | 435 |
| UNC13C | ZFHX4 | Q86UP3 | 418 |
| UNC13C | CAMK2N2 | Q96S95 | 414 |
| UNC13C | ST3GAL3 | Q11203 | 409 |
| UNC13C | ERC1 | Q8IUD2 | 406 |
| UNC13C | CAMK1G | Q96NX5 | 404 |
| UNC13C | TRPM3 | Q9HCF6 | 398 |
| UNC13C | SYT1 | P21579 | 397 |
| UNC13C | RIMS2 | Q9UQ26 | 396 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UNC13C | PRKCSH | psi-mi:“MI:0915”(physical association) | 0.400 |
| UNC13C | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| UNC13C | RPLP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (13): UNC13C (Proximity Label-MS), UNC13C (Proximity Label-MS), UNC13C (Proximity Label-MS), UNC13C (Affinity Capture-MS), UNC13C (Cross-Linking-MS (XL-MS)), UNC13C (Cross-Linking-MS (XL-MS)), SEPT7 (Cross-Linking-MS (XL-MS)), ANXA5 (Cross-Linking-MS (XL-MS)), HSP90AA1 (Cross-Linking-MS (XL-MS)), HSP90AB1 (Cross-Linking-MS (XL-MS)), UNC13C (Affinity Capture-MS), UNC13C (Cross-Linking-MS (XL-MS)), UNC13C (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A140LFM6, A0A1L8H8C0, A0A1L8HFX9, A0A2R6X6S3, A0JM08, A2ARZ3, A2RUV4, A5WUN7, A6QP06, D4AEC2, E9Q309, O76039, P51960, Q03898, Q05935, Q06190, Q08AD1, Q08D57, Q0WPH8, Q3KQW7, Q3UTQ8, Q498L0, Q5RAU1, Q5SW79, Q5T0W9, Q5T5U3, Q5VT06, Q62770, Q66J90, Q69Z38, Q6A065, Q6DFG0, Q6DFV3, Q6IRN6, Q71M21, Q80TN7, Q8AV28, Q8C1B1, Q8IVL0, Q8IZ21
Diamond homologs: A0A075F932, A0FGR8, A0FGR9, A1ZBD6, A8KBH6, D4ABL6, K8FE10, O00443, O00750, O08835, O35681, O43581, P13677, P21521, P21579, P21707, P24506, P24507, P27715, P29101, P34693, P40748, P40749, P41823, P41885, P46096, P46097, P47191, P47708, P47709, P48018, P50232, P70169, P70610, P97610, Q06846, Q14183, Q14184, Q15811, Q3TZZ7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
329 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 304 |
| Likely benign | 11 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6591 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:54235025:TTCA:T | acceptor_loss | 1.0000 |
| 15:54235027:CA:C | acceptor_loss | 1.0000 |
| 15:54235028:A:AG | acceptor_gain | 1.0000 |
| 15:54235028:AG:A | acceptor_gain | 1.0000 |
| 15:54235028:AGG:A | acceptor_gain | 1.0000 |
| 15:54235029:G:GA | acceptor_gain | 1.0000 |
| 15:54235029:GG:G | acceptor_gain | 1.0000 |
| 15:54235029:GGG:G | acceptor_gain | 1.0000 |
| 15:54235029:GGGCT:G | acceptor_gain | 1.0000 |
| 15:54235104:ATGTG:A | donor_gain | 1.0000 |
| 15:54235106:GTG:G | donor_gain | 1.0000 |
| 15:54235107:TG:T | donor_gain | 1.0000 |
| 15:54235108:GG:G | donor_gain | 1.0000 |
| 15:54235109:G:GG | donor_gain | 1.0000 |
| 15:54235110:T:G | donor_loss | 1.0000 |
| 15:54237613:TTTTA:T | acceptor_loss | 1.0000 |
| 15:54237614:TTTA:T | acceptor_loss | 1.0000 |
| 15:54237615:TTAGA:T | acceptor_loss | 1.0000 |
| 15:54237616:TAG:T | acceptor_loss | 1.0000 |
| 15:54237617:A:AG | acceptor_gain | 1.0000 |
| 15:54237617:A:T | acceptor_loss | 1.0000 |
| 15:54237618:G:GG | acceptor_gain | 1.0000 |
| 15:54237618:GA:G | acceptor_gain | 1.0000 |
| 15:54237618:GACC:G | acceptor_gain | 1.0000 |
| 15:54237687:ACTGG:A | donor_loss | 1.0000 |
| 15:54237689:TGG:T | donor_loss | 1.0000 |
| 15:54237691:G:GG | donor_gain | 1.0000 |
| 15:54237691:GTAA:G | donor_loss | 1.0000 |
| 15:54237692:TAAG:T | donor_loss | 1.0000 |
| 15:54238553:G:GT | donor_gain | 1.0000 |
AlphaMissense
14733 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:54013652:T:C | L250P | 1.000 |
| 15:54013691:T:C | L263P | 1.000 |
| 15:54250327:T:C | C1111R | 1.000 |
| 15:54250329:T:G | C1111W | 1.000 |
| 15:54265373:T:C | L1232P | 1.000 |
| 15:54265406:C:A | P1243Q | 1.000 |
| 15:54265412:T:A | V1245D | 1.000 |
| 15:54265418:T:A | V1247D | 1.000 |
| 15:54265477:T:A | W1267R | 1.000 |
| 15:54265477:T:C | W1267R | 1.000 |
| 15:54265479:G:C | W1267C | 1.000 |
| 15:54265479:G:T | W1267C | 1.000 |
| 15:54293927:T:A | V1284D | 1.000 |
| 15:54293935:T:A | W1287R | 1.000 |
| 15:54293935:T:C | W1287R | 1.000 |
| 15:54293937:G:C | W1287C | 1.000 |
| 15:54293937:G:T | W1287C | 1.000 |
| 15:54293998:T:C | F1308L | 1.000 |
| 15:54294000:T:A | F1308L | 1.000 |
| 15:54294000:T:G | F1308L | 1.000 |
| 15:54294004:G:A | G1310R | 1.000 |
| 15:54294004:G:C | G1310R | 1.000 |
| 15:54294062:T:C | L1329S | 1.000 |
| 15:54297840:G:A | G1340R | 1.000 |
| 15:54297840:G:C | G1340R | 1.000 |
| 15:54297840:G:T | G1340W | 1.000 |
| 15:54297841:G:A | G1340E | 1.000 |
| 15:54297847:T:A | I1342K | 1.000 |
| 15:54322004:T:C | L1445P | 1.000 |
| 15:54333825:T:C | L1518P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000787 (15:54371117 C>A,T), RS1000014377 (15:54424006 T>A,C), RS1000015527 (15:54588246 C>A,T), RS1000016468 (15:54220545 A>G), RS1000028483 (15:54326275 G>A), RS1000031941 (15:54121638 T>G), RS1000032953 (15:53936193 T>C), RS1000036738 (15:54151319 A>G), RS1000037473 (15:54293166 A>G), RS1000039689 (15:54298183 A>T), RS1000045402 (15:54550772 T>G), RS1000050206 (15:54186364 G>A), RS1000051676 (15:54600034 T>A,C), RS1000054504 (15:54442729 G>A), RS1000055634 (15:54482936 A>G)
Disease associations
OMIM: gene MIM:614568 | disease phenotypes: MIM:119800
GenCC curated gene-disease
Mondo (3): Alzheimer disease (MONDO:0004975), cystic kidney disease (MONDO:0002473), clubfoot (MONDO:0007342)
Orphanet (3): Early-onset autosomal dominant Alzheimer disease (Orphanet:1020), Familial clubfoot with or without associated lower limb anomalies (Orphanet:199315), NON RARE IN EUROPE: Alzheimer disease (Orphanet:238616)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0002511 | Alzheimer disease |
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000477_58 | Cognitive performance | 1.000000e-06 |
| GCST001491_6 | Immune response to smallpox vaccine (IL-6) | 8.000000e-07 |
| GCST001973_2 | Menarche (age at onset) | 3.000000e-06 |
| GCST001973_4 | Menarche (age at onset) | 7.000000e-06 |
| GCST002929_13 | Chromium levels | 8.000000e-06 |
| GCST002945_5 | Emphysema imaging phenotypes | 8.000000e-07 |
| GCST002963_4 | Post-traumatic stress disorder | 6.000000e-06 |
| GCST003142_2 | Proteinuria in chronic kidney disease | 5.000000e-06 |
| GCST004863_70 | Mosquito bite size | 2.000000e-06 |
| GCST004863_71 | Mosquito bite size | 8.000000e-06 |
| GCST005025_33 | Anti-saccade response | 9.000000e-06 |
| GCST008154_39 | Trunk fat mass | 8.000000e-06 |
| GCST009208_8 | Transverse temporal cortex volume | 1.000000e-06 |
| GCST009391_588 | Metabolite levels | 7.000000e-06 |
| GCST010396_257 | Gut microbiota (bacterial taxa, hurdle binary method) | 2.000000e-07 |
| GCST012052_5 | Waist circumference | 5.000000e-08 |
| GCST012616_19 | Spondylosis | 8.000000e-06 |
| GCST90026414_4 | Severe insulin-resistant type 2 diabetes | 4.000000e-06 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003926 | neuropsychological test |
| EFO:0004645 | response to vaccine |
| EFO:0004703 | age at menarche |
| EFO:0007626 | emphysema imaging measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0006874 | antisaccade response measurement |
| EFO:0010501 | indole-3-propionate measurement |
| EFO:0007874 | gut microbiome measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000544 | Alzheimer Disease | C10.228.140.380.100; C10.574.945.249; F03.615.400.100 |
| D003025 | Clubfoot | C05.330.488.655.063; C05.330.495.681.063; C05.660.585.512.380.813.063; C16.131.621.585.512.500.681.063 |
| D052177 | Kidney Diseases, Cystic | C12.050.351.968.419.403; C12.200.777.419.403; C12.950.419.403 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases mutagenesis | 2 |
| bisphenol A | increases methylation, affects cotreatment | 1 |
| testosterone undecanoate | increases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | increases expression | 1 |
| perfluorooctane sulfonic acid | affects cotreatment, increases expression | 1 |
| perfluorohexanesulfonic acid | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Caffeine | increases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00009191 | PHASE4 | COMPLETED | The Depression in Alzheimer’s Disease Study (DIADS) |
| NCT00009217 | PHASE4 | COMPLETED | Treatment of Behavioral Symptoms in Alzheimer’s Disease |
| NCT00018278 | PHASE4 | COMPLETED | Electrophysiologic Measures of Treatment Response in Alzheimer Disease |
| NCT00035204 | PHASE4 | COMPLETED | A Study of the Effects on Sleep, Attention, and Gastrointestinal Tolerance of Galantamine and Donepezil in Patients With Alzheimer’s Disease |
| NCT00042172 | PHASE4 | COMPLETED | Treatment for Early Memory Loss |
| NCT00046358 | PHASE4 | COMPLETED | The Effect of Short-Term Statins and NSAIDs on Levels of Beta-Amyloid, a Protein Associated With Alzheimer’s Disease |
| NCT00104442 | PHASE4 | COMPLETED | Study of the Effects of Current Drug Treatments on Levels of Certain Brain Chemicals in Alzheimer’s Disease |
| NCT00120874 | PHASE4 | COMPLETED | Memantine and Comprehensive, Individualized Management of Alzheimer’s Disease and Caregiver Training |
| NCT00142324 | PHASE4 | UNKNOWN | CALM-AD |
| NCT00165724 | PHASE4 | COMPLETED | Alzheimer’s Disease Long-term Follow-up Study (ALF Study) |
| NCT00165750 | PHASE4 | TERMINATED | Correlation Between Regional Brain Volume and Response to Donepezil Treatment in AD Patients |
| NCT00202124 | PHASE4 | COMPLETED | Double Blind Study of Trp01 in Patients With Alzheimer’s Disease |
| NCT00208819 | PHASE4 | COMPLETED | A Comparison of Two Standard Therapies in the Management of Dementia With Agitation |
| NCT00216515 | PHASE4 | COMPLETED | The Efficacy of Galantamine on the Attention and the Frontal Function of the Patients With Dementia of Alzheimer Type |
| NCT00230568 | PHASE4 | COMPLETED | EARTH 413: A Study of Aricept in Hispanic Patients With Mild to Moderate Alzheimer’s Disease (AD) |
| NCT00234637 | PHASE4 | COMPLETED | Rivastigmine Monotherapy and Combination Therapy With Memantine in Patients With Moderately Severe Alzheimer’s Disease Who Failed to Benefit From Previous Cholinesterase Inhibitor Treatment |
| NCT00245206 | PHASE4 | COMPLETED | Side Effects of Newer Antipsychotics in Older Adults |
| NCT00254033 | PHASE4 | COMPLETED | Apathy Associated With Alzheimer’s Disease |
| NCT00260624 | PHASE4 | COMPLETED | Escitalopram Treatment of Patients With Agitated Dementia |
| NCT00303277 | PHASE4 | COMPLETED | Do HMG CoA Reductase Inhibitors Affect Abeta Levels? |
| NCT00305903 | PHASE4 | COMPLETED | Safety and Tolerability of Rivastigmine With Add-on Memantine in Patients With Probable Alzheimer’s Disease |
| NCT00306124 | PHASE4 | UNKNOWN | Dopaminergic Enhancement of Learning and Memory in Healthy Adults and Patients With Dementia/Mild Cognitive Impairment |
| NCT00334906 | PHASE4 | COMPLETED | Study of Memantine in Assessment of Selected Measures of Volumetric Magnetic Resonance Imaging (MRI) and Cognition in Moderate AD (Alzheimer’s Disease) |
| NCT00369603 | PHASE4 | TERMINATED | Functional Brain Imaging of Medication Treatment Response in Mild Alzheimer’s Disease Patients |
| NCT00375557 | PHASE4 | WITHDRAWN | Safety and Efficacy of Divalproex and Quetiapine in Elderly Alzheimer’s Dementia Patients |
| NCT00381381 | PHASE4 | COMPLETED | The Clinical Response of Choline Acetyltransferase and Apolipoprotein Epsilon Gene Polymorphisms to Donepezil in Alzheimer’s Disease |
| NCT00385684 | PHASE4 | COMPLETED | Low-Dose Opiate Therapy for Discomfort in Dementia (L-DOT) |
| NCT00401167 | PHASE4 | COMPLETED | Memantine for Agitation and Aggression in Severe Alzheimer’s Disease |
| NCT00403520 | PHASE4 | COMPLETED | Hippocampus Study: Comparative Effect of Donepezil 10mg/d and Placebo on Clinical and Radiological Markers |
| NCT00417482 | PHASE4 | COMPLETED | Antipsychotic Discontinuation in Alzheimer’s Disease |
| NCT00443014 | PHASE4 | COMPLETED | The Dementia Study in Northern Norway |
| NCT00469456 | PHASE4 | COMPLETED | Effect of Memantine on Functional Communication in Patients With Alzheimer’s Disease |
| NCT00476008 | PHASE4 | COMPLETED | Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer’s Disease |
| NCT00477659 | PHASE4 | COMPLETED | Neural Correlates In Mild Alzheimer’s Disease |
| NCT00480870 | PHASE4 | COMPLETED | The Effect of Anticholinesterase Drugs on Sleep in Alzheimer’s Disease Patients |
| NCT00495820 | PHASE4 | COMPLETED | Methylphenidate for Apathy in Alzheimer’s Dementia: A Controlled Study |
| NCT00523666 | PHASE4 | UNKNOWN | Diffusion Tensor Weighted MRI in Alzheimer’s Disease Modifying Treatment Effects of Galantamine (Reminyl®) |
| NCT00549601 | PHASE4 | COMPLETED | Convenience, Tolerability, and Safety of Change in the Administration of Rivastigmine From Capsules to a Transdermal Patch in Patients With Mild to Moderate Alzheimer’s Disease |
| NCT00551161 | PHASE4 | COMPLETED | Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer’s Disease |
| NCT00561392 | PHASE4 | COMPLETED | Clinical Effectiveness of 10 cm^2 Rivastigmine Patch in Patients With Alzheimer’s Disease |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): clubfoot, cystic kidney disease, post-traumatic stress disorder, spondylosis