SYT10
gene geneOn this page
Summary
SYT10 (synaptotagmin 10, HGNC:19266) is a protein-coding gene on chromosome 12p11.1, encoding Synaptotagmin-10 (Q6XYQ8). Ca(2+) sensor specifically required for the Ca(2+)-dependent exocytosis of secretory vesicles containing IGF1 in neurons of the olfactory bulb.
Predicted to enable several functions, including calcium ion binding activity; calcium ion sensor activity; and calcium-dependent phospholipid binding activity. Predicted to be involved in positive regulation of calcium ion-dependent exocytosis; presynaptic dense core vesicle exocytosis; and sensory perception of smell. Predicted to be located in transport vesicle membrane. Predicted to be active in several cellular components, including exocytic vesicle; glutamatergic synapse; and presynapse.
Source: NCBI Gene 341359 — RefSeq curated summary.
At a glance
- GWAS associations: 45
- Clinical variants (ClinVar): 86 total
- MANE Select transcript:
NM_198992
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19266 |
| Approved symbol | SYT10 |
| Name | synaptotagmin 10 |
| Location | 12p11.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000110975 |
| Ensembl biotype | protein_coding |
| Entrez | 341359 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 1 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000228567, ENST00000539102, ENST00000567656
RefSeq mRNA: 1 — MANE Select: NM_198992
NM_198992
CCDS: CCDS8732
Canonical transcript exons
ENST00000228567 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001133434 | 33374238 | 33376901 |
| ENSE00001133441 | 33439372 | 33439819 |
| ENSE00003501552 | 33382349 | 33382520 |
| ENSE00003603664 | 33406789 | 33407356 |
| ENSE00003628375 | 33385171 | 33385291 |
| ENSE00003640024 | 33426138 | 33426495 |
| ENSE00003681252 | 33379832 | 33379961 |
Expression profiles
Bgee: expression breadth broad, 93 present calls, max score 80.66.
FANTOM5 (CAGE): breadth broad, TPM avg 1.1824 / max 23.8052, expressed in 291 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130418 | 0.9649 | 248 |
| 206666 | 0.1550 | 107 |
| 130419 | 0.0435 | 17 |
| 130417 | 0.0190 | 6 |
Top tissues by expression
125 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.66 | gold quality |
| sural nerve | UBERON:0015488 | 73.85 | gold quality |
| right uterine tube | UBERON:0001302 | 68.97 | gold quality |
| tibial nerve | UBERON:0001323 | 65.65 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 61.23 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 60.82 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 60.57 | gold quality |
| fallopian tube | UBERON:0003889 | 58.82 | gold quality |
| prefrontal cortex | UBERON:0000451 | 58.47 | gold quality |
| rectum | UBERON:0001052 | 57.74 | gold quality |
| pituitary gland | UBERON:0000007 | 57.04 | gold quality |
| colonic epithelium | UBERON:0000397 | 54.71 | gold quality |
| nucleus accumbens | UBERON:0001882 | 54.59 | gold quality |
| colon | UBERON:0001155 | 53.46 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 52.89 | gold quality |
| frontal cortex | UBERON:0001870 | 52.69 | gold quality |
| embryo | UBERON:0000922 | 52.16 | silver quality |
| ganglionic eminence | UBERON:0004023 | 52.16 | silver quality |
| duodenum | UBERON:0002114 | 52.03 | gold quality |
| adenohypophysis | UBERON:0002196 | 52.03 | gold quality |
| ventricular zone | UBERON:0003053 | 51.78 | silver quality |
| kidney | UBERON:0002113 | 51.53 | gold quality |
| intestine | UBERON:0000160 | 51.37 | gold quality |
| metanephros cortex | UBERON:0010533 | 49.95 | gold quality |
| caudate nucleus | UBERON:0001873 | 49.16 | gold quality |
| hypothalamus | UBERON:0001898 | 49.13 | gold quality |
| stomach | UBERON:0000945 | 48.91 | gold quality |
| fundus of stomach | UBERON:0001160 | 48.50 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 48.45 | gold quality |
| corpus callosum | UBERON:0002336 | 48.42 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.55 |
| E-GEOD-124858 | no | 1.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
95 targeting SYT10, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
Literature-anchored findings (GeneRIF, showing 1)
- This cDNA clone is 3287 bp and contains an open reading frame from 299 to 1870 encoding a putative protein of 523 amino acids. It shares 94.6 and 94.8% homology to rat Syt 10 and mouse Syt 10 at protein level, respectively. (PMID:14756426)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | syt10 | ENSDARG00000045750 |
| mus_musculus | Syt10 | ENSMUSG00000063260 |
| rattus_norvegicus | Syt10 | ENSRNOG00000014296 |
Paralogs (31): SYT7 (ENSG00000011347), SYT13 (ENSG00000019505), SYT1 (ENSG00000067715), RPH3A (ENSG00000089169), SYTL4 (ENSG00000102362), SYT17 (ENSG00000103528), SYT5 (ENSG00000129990), SYT11 (ENSG00000132718), SYT4 (ENSG00000132872), SYT6 (ENSG00000134207), SYTL2 (ENSG00000137501), SYT16 (ENSG00000139973), SYTL1 (ENSG00000142765), SYT14 (ENSG00000143469), SYT2 (ENSG00000143858), SYTL5 (ENSG00000147041), SYT8 (ENSG00000149043), DOC2A (ENSG00000149927), SYTL3 (ENSG00000164674), TC2N (ENSG00000165929), SYT9 (ENSG00000170743), SYT12 (ENSG00000173227), RPH3AL (ENSG00000181031), C2CD4C (ENSG00000183186), C2CD4A (ENSG00000198535), SYT15 (ENSG00000204176), C2CD4B (ENSG00000205502), SYT3 (ENSG00000213023), C2CD4D (ENSG00000225556), DOC2B (ENSG00000272636), SYT15B (ENSG00000277758)
Protein
Protein identifiers
Synaptotagmin-10 — Q6XYQ8 (reviewed: Q6XYQ8)
Alternative names: Synaptotagmin X
All UniProt accessions (2): Q6XYQ8, F5GZB8
UniProt curated annotations — full annotation on UniProt →
Function. Ca(2+) sensor specifically required for the Ca(2+)-dependent exocytosis of secretory vesicles containing IGF1 in neurons of the olfactory bulb. Exocytosis of IGF1 is required for sensory perception of smell. Not involved in Ca(2+)-dependent synaptic vesicle exocytosis. Acts through Ca(2+) and phospholipid binding to the C2 domain: Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis.
Subunit / interactions. Homodimer; disulfide-linked via the cysteine motif. Can also form heterodimers with SYT3, SYT6, SYT7 and SYT9.
Subcellular location. Cytoplasmic vesicle. Secretory vesicle membrane.
Tissue specificity. Expressed only in pancreas, lung and kidney.
Cofactor. Binds 3 Ca(2+) ions per subunit. The ions are bound to the C2 domains.
Domain organisation. The cysteine motif mediates homo- or heterodimer formation via formation of disulfide bonds. The first C2 domain mediates Ca(2+)-dependent phospholipid binding.
Similarity. Belongs to the synaptotagmin family.
RefSeq proteins (1): NP_945343* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR001565 | Synaptotagmin | Domain |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
Pfam: PF00168
UniProt features (28 total): binding site 16, sequence variant 4, topological domain 2, domain 2, chain 1, transmembrane region 1, modified residue 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6XYQ8-F1 | 73.68 | 0.42 |
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 (16): 320; 320; 321; 322; 322; 322; 325; 328; 328; 394; 400; 454 …
Post-translational modifications (1): 136
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-6794361 | Neurexins and neuroligins |
| R-HSA-9768919 | NPAS4 regulates expression of target genes |
| R-HSA-112316 | Neuronal System |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-6794362 | Protein-protein interactions at synapses |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9634815 | Transcriptional Regulation by NPAS4 |
MSigDB gene sets: 121 (showing top):
GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, chr12p11, GOBP_EXOCYTOSIS, GOBP_POSITIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY, GOBP_POSITIVE_REGULATION_OF_EXOCYTOSIS, GOBP_SECRETION, GOBP_REGULATION_OF_REGULATED_SECRETORY_PATHWAY, GOBP_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, TGANTCA_AP1_C
GO Biological Process (6): exocytosis (GO:0006887), chemical synaptic transmission (GO:0007268), sensory perception of smell (GO:0007608), vesicle-mediated transport (GO:0016192), regulation of calcium ion-dependent exocytosis (GO:0017158), positive regulation of calcium ion-dependent exocytosis (GO:0045956)
GO Molecular Function (10): SNARE binding (GO:0000149), phosphatidylserine binding (GO:0001786), calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), calcium ion sensor activity (GO:0061891), identical protein binding (GO:0042802), metal ion binding (GO:0046872)
GO Cellular Component (7): plasma membrane (GO:0005886), transport vesicle membrane (GO:0030658), exocytic vesicle (GO:0070382), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Protein-protein interactions at synapses | 1 |
| Transcriptional Regulation by NPAS4 | 1 |
| RNA Polymerase II Transcription | 1 |
| Neuronal System | 1 |
| Gene expression (Transcription) | 1 |
| Generic Transcription Pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| calcium-ion regulated exocytosis | 2 |
| protein binding | 2 |
| phospholipid binding | 2 |
| protein dimerization activity | 2 |
| transport vesicle | 2 |
| synapse | 2 |
| cellular anatomical structure | 2 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| anterograde trans-synaptic signaling | 1 |
| sensory perception of chemical stimulus | 1 |
| transport | 1 |
| cellular process | 1 |
| regulation of regulated secretory pathway | 1 |
| regulation of calcium ion-dependent exocytosis | 1 |
| positive regulation of regulated secretory pathway | 1 |
| anion binding | 1 |
| modified amino acid binding | 1 |
| metal ion binding | 1 |
| phosphatidylinositol phosphate binding | 1 |
| phosphatidylinositol bisphosphate binding | 1 |
| identical protein binding | 1 |
| calcium ion binding | 1 |
| metal ion sensor activity | 1 |
| cation binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| secretory vesicle | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
894 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYT10 | KIAA1755 | Q5JYT7 | 542 |
| SYT10 | SNAP25 | P13795 | 531 |
| SYT10 | UNC13A | Q9UPW8 | 500 |
| SYT10 | SYT13 | Q7L8C5 | 472 |
| SYT10 | AFAP1L1 | Q8TED9 | 471 |
| SYT10 | RPH3AL | Q9UNE2 | 460 |
| SYT10 | CCDC141 | Q6ZP82 | 458 |
| SYT10 | CPPED1 | Q9BRF8 | 447 |
| SYT10 | VAMP1 | P23763 | 433 |
| SYT10 | SYT1 | P21579 | 429 |
| SYT10 | KLHL2 | O95198 | 420 |
| SYT10 | TDRD5 | Q8NAT2 | 420 |
| SYT10 | MED13L | Q71F56 | 418 |
| SYT10 | CPNE8 | Q86YQ8 | 418 |
| SYT10 | RNPEP | Q9H4A4 | 416 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SYT3 | PGK2 | psi-mi:“MI:0914”(association) | 0.530 |
| SYT6 | SYT10 | psi-mi:“MI:0914”(association) | 0.350 |
| SYT3 | YES1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): SYT10 (Affinity Capture-MS), SYT10 (Affinity Capture-MS), SYT10 (Affinity Capture-MS), SYT10 (Affinity Capture-MS), SYT10 (Affinity Capture-MS), SYT10 (Affinity Capture-Western), SYT10 (Affinity Capture-MS), SYT10 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I3NFE2, A0FGR8, A0FGR9, A2AP18, A4IJ05, O08625, O08874, O15357, O75038, P51432, P70218, P70268, Q01970, Q12851, Q3TZZ7, Q3U7R1, Q4VX76, Q5DTI8, Q5FWL4, Q5M7N9, Q5R8Q5, Q5RAG2, Q5RCK6, Q5RJH2, Q61161, Q62807, Q63433, Q6DN12, Q6XYQ8, Q7ZWU7, Q812E4, Q86SS6, Q8K394, Q8TDW5, Q920M7, Q925C0, Q92918, Q99JE6, Q99N48, Q9BSJ8
Diamond homologs: A0A075F932, A0FGR8, A4IJ05, K8FE10, O00445, O00750, O08625, O08835, O35681, O43581, P04409, P05128, P05129, P05130, P05696, P10102, P10829, P13677, P17252, P20444, P21521, P21579, P21707, P24505, P24506, P24507, P29101, P34693, P40748, P40749, P41823, P41885, P46096, P46097, P47191, P47708, P47709, P47861, P48018, P50232
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
86 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1484 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:33382345:ATAC:A | donor_loss | 1.0000 |
| 12:33382346:TA:T | donor_loss | 1.0000 |
| 12:33382347:A:C | donor_loss | 1.0000 |
| 12:33382352:T:C | donor_gain | 1.0000 |
| 12:33382516:AGGAT:A | acceptor_gain | 1.0000 |
| 12:33382517:GGAT:G | acceptor_gain | 1.0000 |
| 12:33382518:GAT:G | acceptor_gain | 1.0000 |
| 12:33382518:GATC:G | acceptor_loss | 1.0000 |
| 12:33382521:C:CC | acceptor_gain | 1.0000 |
| 12:33382521:C:T | acceptor_loss | 1.0000 |
| 12:33382522:T:C | acceptor_loss | 1.0000 |
| 12:33385287:CTTTC:C | acceptor_gain | 1.0000 |
| 12:33376902:C:CC | acceptor_gain | 0.9900 |
| 12:33382342:CACAT:C | donor_loss | 0.9900 |
| 12:33382343:ACATA:A | donor_loss | 0.9900 |
| 12:33382347:A:AC | donor_gain | 0.9900 |
| 12:33382348:C:CC | donor_gain | 0.9900 |
| 12:33382348:CCTAT:C | donor_gain | 0.9900 |
| 12:33382518:GATCT:G | acceptor_gain | 0.9900 |
| 12:33382519:AT:A | acceptor_gain | 0.9900 |
| 12:33382519:ATCT:A | acceptor_gain | 0.9900 |
| 12:33407371:A:C | acceptor_gain | 0.9900 |
| 12:33426131:T:A | donor_gain | 0.9900 |
| 12:33426132:CCTTA:C | donor_loss | 0.9900 |
| 12:33426133:CTTAC:C | donor_loss | 0.9900 |
| 12:33426134:TTA:T | donor_loss | 0.9900 |
| 12:33426135:T:TG | donor_loss | 0.9900 |
| 12:33426136:A:AC | donor_gain | 0.9900 |
| 12:33426136:ACCGG:A | donor_loss | 0.9900 |
| 12:33426137:C:A | donor_loss | 0.9900 |
AlphaMissense
3456 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:33379849:A:G | W495R | 1.000 |
| 12:33379849:A:T | W495R | 1.000 |
| 12:33379891:A:G | W481R | 1.000 |
| 12:33379891:A:T | W481R | 1.000 |
| 12:33379938:C:T | G465E | 1.000 |
| 12:33382364:A:T | V452D | 1.000 |
| 12:33382412:A:G | F436S | 1.000 |
| 12:33382436:G:T | P428H | 1.000 |
| 12:33382499:A:G | L407P | 1.000 |
| 12:33382511:A:T | V403D | 1.000 |
| 12:33385200:A:G | L390P | 1.000 |
| 12:33385208:G:C | C387W | 1.000 |
| 12:33385210:A:G | C387R | 1.000 |
| 12:33385218:A:T | V384D | 1.000 |
| 12:33385233:C:G | R379P | 1.000 |
| 12:33406874:C:T | G331E | 1.000 |
| 12:33406875:C:A | G331W | 1.000 |
| 12:33379839:A:C | L498W | 0.999 |
| 12:33379847:C:A | W495C | 0.999 |
| 12:33379847:C:G | W495C | 0.999 |
| 12:33379889:C:A | W481C | 0.999 |
| 12:33379889:C:G | W481C | 0.999 |
| 12:33379890:C:G | W481S | 0.999 |
| 12:33379938:C:A | G465V | 0.999 |
| 12:33379939:C:G | G465R | 0.999 |
| 12:33379939:C:T | G465R | 0.999 |
| 12:33382352:T:G | D456A | 0.999 |
| 12:33382358:T:G | D454A | 0.999 |
| 12:33382376:A:G | L448P | 0.999 |
| 12:33382411:A:C | F436L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000045311 (12:33434856 C>A,T), RS1000103954 (12:33392605 T>C), RS1000177843 (12:33380339 T>C), RS1000194539 (12:33377553 A>G), RS1000227721 (12:33387018 A>G), RS1000282256 (12:33428618 G>A), RS1000337785 (12:33416610 A>C,G), RS1000358293 (12:33422995 C>A), RS1000389072 (12:33406228 A>T), RS1000389364 (12:33422852 A>G), RS1000530421 (12:33410750 A>G), RS1000556059 (12:33441184 A>G), RS1000611723 (12:33428950 G>T), RS1000791899 (12:33411085 T>G), RS1000982772 (12:33404596 C>G,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
45 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001969_4 | Heart rate | 6.000000e-24 |
| GCST003818_39 | Resting heart rate | 7.000000e-34 |
| GCST003984_3 | Parkinson’s disease | 4.000000e-21 |
| GCST004732_4 | Heart rate variability traits (pvRSA/HF) | 2.000000e-14 |
| GCST004732_6 | Heart rate variability traits (pvRSA/HF) | 6.000000e-15 |
| GCST004733_11 | Heart rate variability traits (RMSSD) | 2.000000e-22 |
| GCST004733_20 | Heart rate variability traits (RMSSD) | 3.000000e-20 |
| GCST004734_4 | Heart rate variability traits (SDNN) | 7.000000e-13 |
| GCST004734_5 | Heart rate variability traits (SDNN) | 3.000000e-15 |
| GCST005787_10 | Heart rate response to exercise | 2.000000e-11 |
| GCST005787_7 | Heart rate response to exercise | 3.000000e-10 |
| GCST005788_19 | Heart rate response to recovery post exercise | 1.000000e-26 |
| GCST005789_2 | Resting heart rate | 4.000000e-12 |
| GCST005789_21 | Resting heart rate | 5.000000e-11 |
| GCST005845_8 | Heart rate increase in response to exercise | 3.000000e-30 |
| GCST005846_13 | Heart rate response to recovery post exercise (10 sec) | 5.000000e-66 |
| GCST005847_14 | Heart rate response to recovery post exercise (20 sec) | 3.000000e-58 |
| GCST005848_2 | Heart rate response to recovery post exercise (50 sec) | 8.000000e-54 |
| GCST005849_5 | Heart rate response to recovery post exercise (40 sec) | 2.000000e-57 |
| GCST005850_11 | Heart rate response to recovery post exercise (30 sec) | 4.000000e-56 |
| GCST007217_7 | RR interval (heart rate) | 6.000000e-09 |
| GCST007565_131 | Morning person | 1.000000e-27 |
| GCST007565_200 | Morning person | 7.000000e-31 |
| GCST007565_204 | Morning person | 3.000000e-35 |
| GCST007565_212 | Morning person | 3.000000e-40 |
| GCST007565_31 | Morning person | 2.000000e-14 |
| GCST007565_71 | Morning person | 4.000000e-22 |
| GCST007576_332 | Chronotype | 3.000000e-40 |
| GCST009391_1141 | Metabolite levels | 8.000000e-06 |
| GCST010242_238 | HDL cholesterol levels | 1.000000e-08 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008003 | heart rate variability measurement |
| EFO:0009184 | heart rate response to exercise |
| EFO:0009185 | heart rate response to recovery post exercise |
| EFO:0004831 | RR interval |
| EFO:0008328 | chronotype measurement |
| EFO:0010458 | alpha-hydroxybutyric acid measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Ethanol | increases expression | 1 |
| Caffeine | decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
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.