SYT6
gene geneOn this page
Summary
SYT6 (synaptotagmin 6, HGNC:18638) is a protein-coding gene on chromosome 1p13.2, encoding Synaptotagmin-6 (Q5T7P8). May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis.
The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 148281 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 66 total
- MANE Select transcript:
NM_001253772
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18638 |
| Approved symbol | SYT6 |
| Name | synaptotagmin 6 |
| Location | 1p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000134207 |
| Ensembl biotype | protein_coding |
| OMIM | 607718 |
| Entrez | 148281 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 nonsense_mediated_decay
ENST00000369547, ENST00000607941, ENST00000608203, ENST00000608879, ENST00000609117, ENST00000609577, ENST00000610096, ENST00000610121, ENST00000610222, ENST00000641643
RefSeq mRNA: 7 — MANE Select: NM_001253772
NM_001253772, NM_001270805, NM_001366223, NM_001366224, NM_001366225, NM_001366226, NM_205848
CCDS: CCDS871, CCDS91026, CCDS91027
Canonical transcript exons
ENST00000610222 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000913486 | 114103601 | 114103721 |
| ENSE00001150890 | 114137495 | 114138053 |
| ENSE00001402005 | 114093735 | 114093803 |
| ENSE00001450305 | 114139615 | 114139963 |
| ENSE00001450309 | 114089292 | 114092082 |
| ENSE00001669170 | 114099094 | 114099265 |
| ENSE00003557305 | 114153610 | 114153869 |
| ENSE00003565406 | 114097727 | 114097877 |
Expression profiles
Bgee: expression breadth ubiquitous, 127 present calls, max score 95.50.
FANTOM5 (CAGE): breadth broad, TPM avg 0.8629 / max 35.5128, expressed in 231 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13936 | 0.6233 | 200 |
| 13939 | 0.0865 | 44 |
| 13937 | 0.0774 | 43 |
| 13938 | 0.0758 | 46 |
Top tissues by expression
229 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 95.50 | gold quality |
| pancreatic ductal cell | CL:0002079 | 80.48 | silver quality |
| ganglionic eminence | UBERON:0004023 | 79.46 | gold quality |
| nucleus accumbens | UBERON:0001882 | 74.15 | gold quality |
| hypothalamus | UBERON:0001898 | 73.95 | gold quality |
| tibialis anterior | UBERON:0001385 | 72.41 | silver quality |
| caudate nucleus | UBERON:0001873 | 72.04 | gold quality |
| primary visual cortex | UBERON:0002436 | 70.68 | gold quality |
| putamen | UBERON:0001874 | 70.57 | gold quality |
| ileal mucosa | UBERON:0000331 | 70.02 | gold quality |
| kidney epithelium | UBERON:0004819 | 69.35 | gold quality |
| prefrontal cortex | UBERON:0000451 | 68.22 | gold quality |
| body of pancreas | UBERON:0001150 | 67.57 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 67.45 | gold quality |
| cerebellar vermis | UBERON:0004720 | 66.75 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 66.54 | gold quality |
| occipital lobe | UBERON:0002021 | 66.32 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 65.60 | gold quality |
| spinal cord | UBERON:0002240 | 65.34 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 64.67 | silver quality |
| ventricular zone | UBERON:0003053 | 64.45 | gold quality |
| neocortex | UBERON:0001950 | 64.41 | gold quality |
| deltoid | UBERON:0001476 | 64.29 | silver quality |
| cerebral cortex | UBERON:0000956 | 63.44 | gold quality |
| forebrain | UBERON:0001890 | 63.28 | gold quality |
| frontal cortex | UBERON:0001870 | 63.01 | gold quality |
| amygdala | UBERON:0001876 | 62.94 | gold quality |
| Ammon’s horn | UBERON:0001954 | 62.45 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 62.33 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 61.69 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
94 targeting SYT6, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
Literature-anchored findings (GeneRIF, showing 3)
- Acrosomal exocytosis is regulated through the PKC-mediated phosphorylation of conserved threonines in the polybasic regions of synaptotagmin VI. (PMID:16111671)
- SYT6 is hypermethylated in renal cell carcinoma. (PMID:18639284)
- synaptotagmin must be dephosphorylated at a specific window of time and phosphorylated synaptotagmin has an active role at early stages of the acrosomal exocytosis. (PMID:20551332)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | syt6b | ENSDARG00000031463 |
| danio_rerio | syt6a | ENSDARG00000076730 |
| mus_musculus | Syt6 | ENSMUSG00000027849 |
| rattus_norvegicus | Syt6 | ENSRNOG00000019163 |
Paralogs (31): SYT7 (ENSG00000011347), SYT13 (ENSG00000019505), SYT1 (ENSG00000067715), RPH3A (ENSG00000089169), SYTL4 (ENSG00000102362), SYT17 (ENSG00000103528), SYT10 (ENSG00000110975), SYT5 (ENSG00000129990), SYT11 (ENSG00000132718), SYT4 (ENSG00000132872), 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-6 — Q5T7P8 (reviewed: Q5T7P8)
Alternative names: Synaptotagmin VI
All UniProt accessions (8): A0A286YEX2, A0A7I2PMW4, Q5T7P8, I6L9C3, V9GY33, V9GYB1, V9GYC4, V9GYY7
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. May mediate Ca(2+)-regulation of exocytosis in acrosomal reaction in sperm.
Subunit / interactions. Isoform 1: Homodimer; disulfide-linked via the cysteine motif. Isoform 1: Can also form heterodimers with SYT3, SYT7, SYT9 and SYT10. Isoform 1: Interacts with STX1A, STX1B and STX2; the interaction is Ca(2+)-dependent. Isoform 2: Is not able to form homodimer and heterodimers.
Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane Membrane Cytoplasm. Cytosol. Cell membrane.
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.
Similarity. Belongs to the synaptotagmin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T7P8-1 | 1 | yes |
| Q5T7P8-2 | 2 |
RefSeq proteins (7): NP_001240701, NP_001257734, NP_001353152, NP_001353153, NP_001353154, NP_001353155, NP_995320 (=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, region of interest 3, topological domain 2, domain 2, chain 1, transmembrane region 1, modified residue 1, splice variant 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T7P8-F1 | 73.96 | 0.45 |
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): 260; 260; 266; 318; 318; 319; 320; 320; 320; 323; 326; 326 …
Post-translational modifications (1): 216
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 168 (showing top):
GOBP_SINGLE_FERTILIZATION, FREAC2_01, BENPORATH_ES_WITH_H3K27ME3, MYOGENIN_Q6, GCANCTGNY_MYOD_Q6, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_VESICLE_MEDIATED_TRANSPORT, FOXO1_01, GGGTGGRR_PAX4_03, USF_C, CAGCTG_AP4_Q5, EFC_Q6, FOXD3_01, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT
GO Biological Process (4): chemical synaptic transmission (GO:0007268), vesicle-mediated transport (GO:0016192), regulation of calcium ion-dependent exocytosis (GO:0017158), acrosomal vesicle exocytosis (GO:0060478)
GO Molecular Function (7): SNARE binding (GO:0000149), syntaxin binding (GO:0019905), clathrin binding (GO:0030276), protein homodimerization activity (GO:0042803), metal ion binding (GO:0046872), calcium ion sensor activity (GO:0061891), protein binding (GO:0005515)
GO Cellular Component (11): cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), membrane (GO:0016020), synaptic vesicle membrane (GO:0030672), exocytic vesicle (GO:0070382), perinuclear endoplasmic reticulum (GO:0097038), cytoplasm (GO:0005737), transport vesicle membrane (GO:0030658), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| calcium-ion regulated exocytosis | 2 |
| protein binding | 2 |
| cytoplasm | 2 |
| transport vesicle | 2 |
| anterograde trans-synaptic signaling | 1 |
| transport | 1 |
| cellular process | 1 |
| regulation of regulated secretory pathway | 1 |
| acrosome reaction | 1 |
| SNARE binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| cation binding | 1 |
| calcium ion binding | 1 |
| metal ion sensor activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cytoplasmic side of membrane | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| secretory vesicle | 1 |
| endoplasmic reticulum | 1 |
| perinuclear region of cytoplasm | 1 |
| intracellular anatomical structure | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
936 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYT6 | EFR3A | Q14156 | 478 |
| SYT6 | RORB | Q92753 | 471 |
| SYT6 | SYNDIG1L | A6NDD5 | 470 |
| SYT6 | CPLX3 | Q8WVH0 | 452 |
| SYT6 | PGLYRP4 | Q96LB8 | 432 |
| SYT6 | GNG7 | O60262 | 418 |
| SYT6 | FARP2 | O94887 | 416 |
| SYT6 | CEP41 | Q9BYV8 | 413 |
| SYT6 | OR52N1 | Q8NH53 | 411 |
| SYT6 | DLGAP3 | O95886 | 409 |
| SYT6 | SYNPR | Q8TBG9 | 406 |
| SYT6 | CUX2 | O14529 | 405 |
| SYT6 | OR52N5 | Q8NH56 | 405 |
| SYT6 | ERC2 | O15083 | 403 |
| SYT6 | PRDM8 | Q9NQV8 | 402 |
| SYT6 | DRD1 | P21728 | 402 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SYT6 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| YES1 | HSPB1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS11E | RAB4A | psi-mi:“MI:0914”(association) | 0.350 |
| SYT6 | SYT10 | psi-mi:“MI:0914”(association) | 0.350 |
| SYT6 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (132): SYT6 (Two-hybrid), SYT6 (Two-hybrid), SYT6 (Two-hybrid), SYT6 (Two-hybrid), SYT6 (Two-hybrid), SYT6 (Two-hybrid), SYT6 (Two-hybrid), SYT6 (Two-hybrid), SYT6 (Two-hybrid), SYT6 (Two-hybrid), ZBTB8A (Two-hybrid), BRCA1 (Two-hybrid), SYT10 (Affinity Capture-MS), SYT3 (Affinity Capture-MS), CETN3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0B4J1F4, A0A0G2JXN2, A2AWP8, A2RRH5, C9J798, O43374, O70277, O95294, P04629, P59926, Q0GA42, Q13368, Q14318, Q16512, Q29RM4, Q2HY40, Q2T9P3, Q2TBA3, Q5BIM1, Q5M7W1, Q5R5M3, Q5R811, Q5T7P8, Q5XIS9, Q62746, Q6PFQ7, Q6PFY8, Q7TNM2, Q7TP90, Q7Z4K8, Q8BG60, Q8BHT7, Q8BQC3, Q8C6N3, Q8CIW5, Q8IZ69, Q8NCT1, Q920N2, Q92546, Q925B4
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
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCB | “up-regulates activity” | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1450 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:114099089:CCTA:C | donor_gain | 1.0000 |
| 1:114099090:CTACC:C | donor_loss | 1.0000 |
| 1:114099092:A:AC | donor_gain | 1.0000 |
| 1:114099093:C:CC | donor_gain | 1.0000 |
| 1:114099093:CCGAT:C | donor_gain | 1.0000 |
| 1:114099261:GGGAT:G | acceptor_gain | 1.0000 |
| 1:114099263:GATC:G | acceptor_loss | 1.0000 |
| 1:114099264:ATCTG:A | acceptor_loss | 1.0000 |
| 1:114099266:C:CC | acceptor_gain | 1.0000 |
| 1:114099266:C:T | acceptor_loss | 1.0000 |
| 1:114099268:G:C | acceptor_gain | 1.0000 |
| 1:114099271:CCAA:C | acceptor_gain | 1.0000 |
| 1:114099272:C:T | acceptor_gain | 1.0000 |
| 1:114099272:CAA:C | acceptor_gain | 1.0000 |
| 1:114099273:A:T | acceptor_gain | 1.0000 |
| 1:114099274:A:AC | acceptor_gain | 1.0000 |
| 1:114099274:A:C | acceptor_gain | 1.0000 |
| 1:114099281:C:CT | acceptor_gain | 1.0000 |
| 1:114099282:A:T | acceptor_gain | 1.0000 |
| 1:114137493:A:AC | donor_gain | 1.0000 |
| 1:114137494:C:CC | donor_gain | 1.0000 |
| 1:114137494:CA:C | donor_gain | 1.0000 |
| 1:114137494:CACT:C | donor_gain | 1.0000 |
| 1:114137494:CACTT:C | donor_gain | 1.0000 |
| 1:114139611:TCACC:T | donor_loss | 1.0000 |
| 1:114139612:CACC:C | donor_loss | 1.0000 |
| 1:114139613:ACCTG:A | donor_loss | 1.0000 |
| 1:114099263:GAT:G | acceptor_gain | 0.9900 |
| 1:114099272:C:CT | acceptor_loss | 0.9900 |
| 1:114103596:GGTAC:G | donor_loss | 0.9900 |
AlphaMissense
3358 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:114097765:A:G | W493R | 1.000 |
| 1:114097765:A:T | W493R | 1.000 |
| 1:114097807:A:G | W479R | 1.000 |
| 1:114097807:A:T | W479R | 1.000 |
| 1:114097854:C:T | G463E | 1.000 |
| 1:114097855:C:G | G463R | 1.000 |
| 1:114097855:C:T | G463R | 1.000 |
| 1:114099097:T:A | D454V | 1.000 |
| 1:114099097:T:G | D454A | 1.000 |
| 1:114099102:G:C | D452E | 1.000 |
| 1:114099102:G:T | D452E | 1.000 |
| 1:114099103:T:A | D452V | 1.000 |
| 1:114099103:T:C | D452G | 1.000 |
| 1:114099103:T:G | D452A | 1.000 |
| 1:114099104:C:G | D452H | 1.000 |
| 1:114099109:A:T | V450D | 1.000 |
| 1:114099121:A:G | L446P | 1.000 |
| 1:114099156:A:C | F434L | 1.000 |
| 1:114099156:A:T | F434L | 1.000 |
| 1:114099158:A:G | F434L | 1.000 |
| 1:114099181:G:T | P426H | 1.000 |
| 1:114099208:G:A | T417I | 1.000 |
| 1:114099208:G:C | T417R | 1.000 |
| 1:114099208:G:T | T417K | 1.000 |
| 1:114099252:T:A | K402N | 1.000 |
| 1:114099252:T:G | K402N | 1.000 |
| 1:114099260:A:C | Y400D | 1.000 |
| 1:114099262:G:C | P399R | 1.000 |
| 1:114099262:G:T | P399H | 1.000 |
| 1:114103617:G:C | D392E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000003805 (1:114121160 T>C), RS1000038834 (1:114102641 T>C), RS1000044549 (1:114107137 G>C), RS1000077167 (1:114144034 A>T), RS1000180327 (1:114106983 ACT>A), RS1000206540 (1:114149826 C>T), RS1000248024 (1:114112345 T>C), RS1000274742 (1:114115713 C>A,G), RS1000329555 (1:114110646 G>C), RS1000368965 (1:114155825 T>C), RS1000398474 (1:114147136 G>A), RS1000415971 (1:114117482 G>T), RS1000448750 (1:114110455 G>T), RS1000526780 (1:114148808 A>T), RS1000531659 (1:114125512 A>G)
Disease associations
OMIM: gene MIM:607718 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_512 | Obesity-related traits | 2.000000e-06 |
| GCST001762_676 | Obesity-related traits | 2.000000e-06 |
| GCST001816_1 | Breast cancer (prognosis) | 8.000000e-06 |
| GCST010002_392 | Refractive error | 8.000000e-20 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004578 | homocysteine measurement |
| EFO:0005134 | amino acid measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 3 |
| Benzo(a)pyrene | affects methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| arsenite | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Rotenone | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma