SYT5
gene geneOn this page
Summary
SYT5 (synaptotagmin 5, HGNC:11513) is a protein-coding gene on chromosome 19q13.42, encoding Synaptotagmin-5 (O00445). 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.
Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).
Source: NCBI Gene 6861 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_003180
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11513 |
| Approved symbol | SYT5 |
| Name | synaptotagmin 5 |
| Location | 19q13.42 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000129990 |
| Ensembl biotype | protein_coding |
| OMIM | 600782 |
| Entrez | 6861 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 14 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000354308, ENST00000537500, ENST00000585461, ENST00000587067, ENST00000588305, ENST00000589172, ENST00000590851, ENST00000590859, ENST00000592470, ENST00000592935, ENST00000592956, ENST00000868679, ENST00000868681, ENST00000868684, ENST00000868686, ENST00000868688, ENST00000868689, ENST00000948087
RefSeq mRNA: 2 — MANE Select: NM_003180
NM_001297774, NM_003180
CCDS: CCDS12919, CCDS74455
Canonical transcript exons
ENST00000354308 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001399834 | 55178963 | 55179086 |
| ENSE00001420293 | 55180117 | 55180289 |
| ENSE00002764071 | 55171196 | 55173684 |
| ENSE00003218618 | 55178196 | 55178368 |
| ENSE00003532046 | 55175709 | 55175876 |
| ENSE00003626470 | 55175172 | 55175339 |
| ENSE00003659981 | 55176005 | 55176124 |
| ENSE00003661240 | 55174882 | 55174999 |
| ENSE00003672621 | 55174517 | 55174650 |
Expression profiles
Bgee: expression breadth ubiquitous, 182 present calls, max score 97.61.
FANTOM5 (CAGE): breadth broad, TPM avg 5.7764 / max 231.4682, expressed in 433 samples.
FANTOM5 promoters (15 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182736 | 1.8463 | 268 |
| 182745 | 1.6576 | 162 |
| 182743 | 1.3456 | 180 |
| 182739 | 0.1445 | 54 |
| 182735 | 0.1054 | 59 |
| 182744 | 0.1025 | 49 |
| 182737 | 0.0971 | 60 |
| 182742 | 0.0860 | 48 |
| 182741 | 0.0821 | 51 |
| 182738 | 0.0795 | 39 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 97.61 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.86 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.52 | gold quality |
| cingulate cortex | UBERON:0003027 | 95.54 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.52 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.23 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.17 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.67 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.12 | gold quality |
| frontal cortex | UBERON:0001870 | 93.69 | gold quality |
| putamen | UBERON:0001874 | 93.59 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 93.51 | gold quality |
| amygdala | UBERON:0001876 | 93.30 | gold quality |
| neocortex | UBERON:0001950 | 93.30 | gold quality |
| pituitary gland | UBERON:0000007 | 92.38 | gold quality |
| telencephalon | UBERON:0001893 | 91.53 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.48 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.35 | gold quality |
| forebrain | UBERON:0001890 | 91.24 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.31 | gold quality |
| hypothalamus | UBERON:0001898 | 90.18 | gold quality |
| Ammon’s horn | UBERON:0001954 | 88.75 | gold quality |
| brain | UBERON:0000955 | 87.97 | gold quality |
| frontal pole | UBERON:0002795 | 87.57 | gold quality |
| central nervous system | UBERON:0001017 | 87.45 | gold quality |
| temporal lobe | UBERON:0001871 | 87.40 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 85.63 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 83.90 | gold quality |
| postcentral gyrus | UBERON:0002581 | 83.72 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 83.71 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 14.61 |
| E-ANND-3 | yes | 4.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
36 targeting SYT5, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-4782-3P | 99.88 | 73.31 | 735 |
| HSA-MIR-6766-3P | 99.88 | 73.38 | 732 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-508-3P | 98.66 | 69.62 | 887 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-3135B | 98.61 | 65.33 | 1470 |
| HSA-MIR-92A-1-5P | 98.28 | 64.51 | 631 |
| HSA-MIR-93-3P | 98.15 | 66.65 | 1309 |
| HSA-MIR-6819-5P | 97.96 | 66.59 | 1071 |
| HSA-MIR-6847-5P | 97.93 | 66.74 | 1808 |
| HSA-MIR-6737-5P | 97.75 | 66.54 | 1044 |
| HSA-MIR-4675 | 97.69 | 64.82 | 774 |
| HSA-MIR-4741 | 97.69 | 64.14 | 883 |
Literature-anchored findings (GeneRIF, showing 4)
- results suggest a novel putative functional role for the GST-synaptotagmin V complex in human breast cancers. As this association of GST M1-synaptotagmin was not seen in adjacent non-cancerous tissues, this can be used as a marker for breast cancers. (PMID:15820774)
- This protein has been found differentially expressed in thalami from patients with schizophrenia. (PMID:20471030)
- crystals of synaptotagmin 5 belonged to the hexagonal space group P6(5), with unit-cell parameters a = b = 93.97, c = 28.05 A. (PMID:22102235)
- Ca(2+)-binding pocket of synaptotagmin 5 C2A domain (PMID:27793683)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Syt5 | ENSMUSG00000004961 |
| rattus_norvegicus | Syt5 | ENSRNOG00000018217 |
Paralogs (31): SYT7 (ENSG00000011347), SYT13 (ENSG00000019505), SYT1 (ENSG00000067715), RPH3A (ENSG00000089169), SYTL4 (ENSG00000102362), SYT17 (ENSG00000103528), SYT10 (ENSG00000110975), 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-5 — O00445 (reviewed: O00445)
Alternative names: Synaptotagmin V
All UniProt accessions (7): O00445, K7EJ95, K7EJC4, K7EJS7, K7EQ59, M0QYJ7, Q4FD32
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. Regulates the Ca(2+)-dependent secretion of norepinephrine in PC12 cells. Required for export from the endocytic recycling compartment to the cell surface.
Subunit / interactions. Homodimer. Interacts with both alpha- and beta-tubulin.
Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Recycling endosome membrane.
Cofactor. Binds 3 Ca(2+) ions per subunit. The ions are bound to the C2 domains.
Similarity. Belongs to the synaptotagmin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O00445-1 | 1 | yes |
| O00445-2 | 2 |
RefSeq proteins (2): NP_001284703, NP_003171* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR001565 | Synaptotagmin | Domain |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
Pfam: PF00168
UniProt features (43 total): binding site 17, strand 9, topological domain 2, splice variant 2, sequence variant 2, helix 2, domain 2, chain 1, transmembrane region 1, mutagenesis site 1, sequence conflict 1, turn 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5H4Y | X-RAY DIFFRACTION | 1.9 |
| 5H4Z | X-RAY DIFFRACTION | 3.01 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00445-F1 | 84.16 | 0.59 |
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 (17): 139; 145; 197; 197; 198; 199; 199; 199; 202; 205; 205; 270 …
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 202 | does not affect ca(2+) affinity as measured by isothermal titration calorimetry of the mutant protein. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-422356 | Regulation of insulin secretion |
| R-HSA-1430728 | Metabolism |
| R-HSA-163685 | Integration of energy metabolism |
MSigDB gene sets: 210 (showing top):
GOBP_REGULATION_OF_VESICLE_FUSION, MORF_FLT1, MODULE_274, MORF_MSH3, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION, MORF_BRCA1, GOBP_MEMBRANE_FUSION, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, MORF_ESR1, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, MORF_RAD51L3, GOBP_CELL_CELL_SIGNALING
GO Biological Process (5): chemical synaptic transmission (GO:0007268), vesicle-mediated transport (GO:0016192), regulation of calcium ion-dependent exocytosis (GO:0017158), calcium-dependent activation of synaptic vesicle fusion (GO:0099502), regulation of synaptic vesicle exocytosis (GO:2000300)
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), syntaxin binding (GO:0019905), clathrin binding (GO:0030276), protein heterodimerization activity (GO:0046982), calcium ion sensor activity (GO:0061891), metal ion binding (GO:0046872)
GO Cellular Component (15): plasma membrane (GO:0005886), axon (GO:0030424), synaptic vesicle membrane (GO:0030672), dense core granule (GO:0031045), neuronal cell body (GO:0043025), perinuclear region of cytoplasm (GO:0048471), recycling endosome membrane (GO:0055038), exocytic vesicle (GO:0070382), neuronal dense core vesicle membrane (GO:0099012), proximal neuron projection (GO:1990769), endosome (GO:0005768), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), neuron projection (GO:0043005), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Integration of energy metabolism | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of regulated secretory pathway | 2 |
| synaptic vesicle exocytosis | 2 |
| protein binding | 2 |
| phospholipid binding | 2 |
| neuron projection | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| anterograde trans-synaptic signaling | 1 |
| transport | 1 |
| cellular process | 1 |
| calcium-ion regulated exocytosis | 1 |
| positive regulation of synaptic vesicle fusion to presynaptic active zone membrane | 1 |
| regulation of neurotransmitter secretion | 1 |
| anion binding | 1 |
| modified amino acid binding | 1 |
| metal ion binding | 1 |
| phosphatidylinositol phosphate binding | 1 |
| phosphatidylinositol bisphosphate binding | 1 |
| SNARE binding | 1 |
| protein dimerization activity | 1 |
| calcium ion binding | 1 |
| metal ion sensor activity | 1 |
| cation binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| secretory granule | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| endosome membrane | 1 |
| recycling endosome | 1 |
| transport vesicle | 1 |
| secretory vesicle | 1 |
| dense core granule membrane | 1 |
| neuronal dense core vesicle | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| intracellular vesicle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
616 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYT5 | UBXN2B | Q14CS0 | 462 |
| SYT5 | NCKIPSD | Q9NZQ3 | 418 |
| SYT5 | RDH13 | Q8NBN7 | 417 |
| SYT5 | ARFRP1 | Q13795 | 414 |
| SYT5 | STXBP1 | P61764 | 410 |
| SYT5 | VAMP2 | P19065 | 382 |
| SYT5 | MPZL1 | O95297 | 372 |
| SYT5 | NCKAP5L | Q9HCH0 | 370 |
| SYT5 | TMEM94 | Q12767 | 369 |
| SYT5 | TFPT | P0C1Z6 | 367 |
| SYT5 | SNAP25 | P13795 | 364 |
| SYT5 | SYN2 | Q92777 | 350 |
| SYT5 | VAMP3 | Q15836 | 343 |
| SYT5 | STX1A | Q16623 | 343 |
| SYT5 | VAMP8 | Q9BV40 | 336 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SYT5 | SYT1 | psi-mi:“MI:0914”(association) | 0.530 |
| SYT1 | SYT5 | psi-mi:“MI:0914”(association) | 0.530 |
| SYT2 | SYT5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SYT5 | HTR6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SYT5 | SHANK3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| POLR2E | SYT5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | SYT5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | CACNB4 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | DISP2 | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJC5 | SYT5 | psi-mi:“MI:2364”(proximity) | 0.270 |
| RAB1A | SYT5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (17): ATP6V1C2 (Affinity Capture-MS), PALM2 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), SYT1 (Affinity Capture-MS), ATP6V1C2 (Affinity Capture-MS), PALM2 (Affinity Capture-MS), DNAJC5 (FRET), SYT5 (Two-hybrid), SYT5 (Negative Genetic), SYT5 (Affinity Capture-Western), SYT5 (Two-hybrid), PALM2 (Affinity Capture-MS), ATP6V1C2 (Affinity Capture-MS), NEU2 (Affinity Capture-MS), SYT1 (Affinity Capture-MS)
ESM2 similar proteins: A0FGR8, A0FGR9, O00445, O08835, O35681, O75038, P05129, P10688, P10829, P10895, P21579, P21707, P21709, P24505, P24506, P29101, P40748, P41823, P46096, P46097, P47861, P48018, P51178, P54760, P63318, P63319, P70611, Q06418, Q14183, Q3TZZ7, Q3U7R1, Q4R4U2, Q5DTI8, Q5FWL4, Q5M7N9, Q5R4J5, Q5RAG2, Q60HC0, Q7TNF0, Q8K2J0
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
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1471 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:55173695:C:CT | acceptor_gain | 1.0000 |
| 19:55173697:C:CT | acceptor_gain | 1.0000 |
| 19:55173698:G:T | acceptor_gain | 1.0000 |
| 19:55174511:GCTCA:G | donor_loss | 1.0000 |
| 19:55174512:CTCAC:C | donor_loss | 1.0000 |
| 19:55174513:TCACC:T | donor_loss | 1.0000 |
| 19:55174514:CACCT:C | donor_loss | 1.0000 |
| 19:55174515:ACCTG:A | donor_loss | 1.0000 |
| 19:55174516:C:CA | donor_loss | 1.0000 |
| 19:55174646:TGGAT:T | acceptor_gain | 1.0000 |
| 19:55174647:GGAT:G | acceptor_gain | 1.0000 |
| 19:55174648:GAT:G | acceptor_gain | 1.0000 |
| 19:55174649:AT:A | acceptor_gain | 1.0000 |
| 19:55174651:C:CC | acceptor_gain | 1.0000 |
| 19:55174651:CTGGG:C | acceptor_loss | 1.0000 |
| 19:55174879:CACCT:C | donor_loss | 1.0000 |
| 19:55174880:ACCTG:A | donor_loss | 1.0000 |
| 19:55174881:C:G | donor_loss | 1.0000 |
| 19:55174899:T:TA | donor_gain | 1.0000 |
| 19:55174995:TCCTG:T | acceptor_gain | 1.0000 |
| 19:55174996:CCTGC:C | acceptor_gain | 1.0000 |
| 19:55174997:CTG:C | acceptor_gain | 1.0000 |
| 19:55174998:TG:T | acceptor_gain | 1.0000 |
| 19:55174999:GCTGA:G | acceptor_loss | 1.0000 |
| 19:55175000:C:CC | acceptor_gain | 1.0000 |
| 19:55175000:C:G | acceptor_loss | 1.0000 |
| 19:55175001:T:G | acceptor_loss | 1.0000 |
| 19:55175167:CTCA:C | donor_loss | 1.0000 |
| 19:55175168:TCA:T | donor_loss | 1.0000 |
| 19:55175169:CA:C | donor_loss | 1.0000 |
AlphaMissense
2471 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:55173532:C:A | W371C | 1.000 |
| 19:55173532:C:G | W371C | 1.000 |
| 19:55173623:C:T | G341E | 1.000 |
| 19:55174566:G:T | P304H | 1.000 |
| 19:55174641:A:T | V279D | 1.000 |
| 19:55174921:C:G | A263P | 1.000 |
| 19:55174929:A:T | V260D | 1.000 |
| 19:55173534:A:G | W371R | 0.999 |
| 19:55173534:A:T | W371R | 0.999 |
| 19:55173623:C:A | G341V | 0.999 |
| 19:55173624:C:A | G341W | 0.999 |
| 19:55174583:C:A | K298N | 0.999 |
| 19:55174583:C:G | K298N | 0.999 |
| 19:55174593:G:A | T295I | 0.999 |
| 19:55174645:A:C | Y278D | 0.999 |
| 19:55174647:G:T | P277Q | 0.999 |
| 19:55174911:A:G | L266P | 0.999 |
| 19:55174911:A:T | L266Q | 0.999 |
| 19:55174935:A:T | V258D | 0.999 |
| 19:55174941:A:G | L256P | 0.999 |
| 19:55174941:A:T | L256H | 0.999 |
| 19:55174968:A:G | L247P | 0.999 |
| 19:55174968:A:T | L247H | 0.999 |
| 19:55174986:C:A | G241V | 0.999 |
| 19:55174986:C:T | G241E | 0.999 |
| 19:55174987:C:A | G241W | 0.999 |
| 19:55174987:C:G | G241R | 0.999 |
| 19:55174987:C:T | G241R | 0.999 |
| 19:55175257:C:T | G208E | 0.999 |
| 19:55175764:G:A | T162I | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000398942 (19:55181322 C>T), RS1000832513 (19:55178806 AC>A), RS1000859461 (19:55176642 G>A), RS1000953753 (19:55176902 G>A), RS1001604146 (19:55175436 G>A,T), RS1001947434 (19:55180923 C>T), RS1002301356 (19:55171988 A>G), RS1002755077 (19:55172324 G>A), RS1002870750 (19:55174204 G>A,C), RS1003191616 (19:55173039 G>T), RS1003215614 (19:55181937 C>G,T), RS1003307740 (19:55173369 G>A,C), RS1003681498 (19:55178006 G>A), RS1003954823 (19:55179282 C>G,T), RS1004430210 (19:55173443 G>A)
Disease associations
OMIM: gene MIM:600782 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002400_98 | Plateletcrit | 4.000000e-09 |
| GCST90002401_300 | Platelet distribution width | 6.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007985 | platelet crit |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects acetylation, affects methylation, increases expression | 3 |
| Air Pollutants | increases abundance, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | affects acetylation, affects methylation | 1 |
| abrine | increases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Methotrexate | decreases expression | 1 |
| Niclosamide | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Particulate Matter | increases abundance, increases 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.