Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | ISO | SYT4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | ISO | SYT4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Synaptotagmin IV is necessary for the maturation of secretory granules in PC12 cells. | Ahras M, etal., J Cell Biol. 2006 Apr 24;173(2):241-51. Epub 2006 Apr 17. |
2. | Analysis of the synaptotagmin family during reconstituted membrane fusion. Uncovering a class of inhibitory isoforms. | Bhalla A, etal., J Biol Chem. 2008 Aug 1;283(31):21799-807. doi: 10.1074/jbc.M709628200. Epub 2008 May 28. |
3. | Capture of Dense Core Vesicles at Synapses by JNK-Dependent Phosphorylation of Synaptotagmin-4. | Bharat V, etal., Cell Rep. 2017 Nov 21;21(8):2118-2133. doi: 10.1016/j.celrep.2017.10.084. |
4. | Delineation of the oligomerization, AP-2 binding, and synprint binding region of the C2B domain of synaptotagmin. | Chapman ER, etal., J Biol Chem. 1998 Dec 4;273(49):32966-72. |
5. | Variations of synaptotagmin I, synaptotagmin IV, and synaptophysin mRNA levels in rat hippocampus during the estrous cycle. | Crispino M, etal., Exp Neurol 1999 Oct;159(2):574-83. |
6. | Structural basis for the evolutionary inactivation of Ca2+ binding to synaptotagmin 4. | Dai H, etal., Nat Struct Mol Biol 2004 Sep;11(9):844-9. Epub 2004 Aug 15. |
7. | Synthesis degradation, and subcellular localization of synaptotagmin IV, a neuronal immediate early gene product. | Ferguson GD, etal., J Neurochem. 1999 May;72(5):1821-31. |
8. | Nerve growth factor-dependent sorting of synaptotagmin IV protein to mature dense-core vesicles that undergo calcium-dependent exocytosis in PC12 cells. | Fukuda M, etal., J Biol Chem 2003 Jan 31;278(5):3220-6. Epub 2002 Nov 21. |
9. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
10. | Synaptotagmin IV is present at the Golgi and distal parts of neurites. | Ibata K, etal., J Neurochem. 2000 Feb;74(2):518-26. |
11. | Ca(2+)-dependent and -independent activities of neural and non-neural synaptotagmins. | Li C, etal., Nature 1995 Jun 15;375(6532):594-9. |
12. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
13. | Upregulation of synaptotagmin IV inhibits transmitter release in PC12 cells with targeted synaptotagmin I knockdown. | Moore-Dotson JM, etal., BMC Neurosci. 2010 Aug 24;11:104. doi: 10.1186/1471-2202-11-104. |
14. | JNK phosphorylates synaptotagmin-4 and enhances Ca2+-evoked release. | Mori Y, etal., EMBO J. 2008 Jan 9;27(1):76-87. Epub 2007 Nov 29. |
15. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
16. | GOA pipeline | RGD automated data pipeline |
17. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
18. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
19. | Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca2+/CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites. | Stucchi R, etal., Cell Rep. 2018 Jul 17;24(3):685-700. doi: 10.1016/j.celrep.2018.06.071. |
20. | Functional and biochemical analysis of the C2 domains of synaptotagmin IV. | Thomas DM, etal., Mol Biol Cell. 1999 Jul;10(7):2285-95. |
21. | Two synaptotagmin genes, Syt1 and Syt4, are differentially regulated in adult brain and during postnatal development following kainic acid-induced seizures. | Tocco G, etal., Brain Res Mol Brain Res 1996 Sep 1;40(2):229-39. |
22. | Upregulation and axonal transport of synaptotagmin-IV in the direct-pathway medium spiny neurons in hemi-parkinsonian rats induced by dopamine D1 receptor stimulation. | Tratnjek L, etal., Eur J Neurosci. 2016 Apr;43(7):885-98. doi: 10.1111/ejn.13161. Epub 2016 Feb 23. |
23. | Functional properties of multiple synaptotagmins in brain. | Ullrich B, etal., Neuron 1994 Dec;13(6):1281-91. |
24. | Synaptotagmin IV is an immediate early gene induced by depolarization in PC12 cells and in brain. | Vician L, etal., Proc Natl Acad Sci U S A 1995 Mar 14;92(6):2164-8. |
25. | Rat and Drosophila synaptotagmin 4 have opposite effects during SNARE-catalyzed membrane fusion. | Wang Z and Chapman ER, J Biol Chem. 2010 Oct 1;285(40):30759-66. doi: 10.1074/jbc.M110.137745. Epub 2010 Aug 5. |
26. | The synaptotagmins: calcium sensors for vesicular trafficking. | Yoshihara M and Montana ES, Neuroscientist. 2004 Dec;10(6):566-74. |
27. | Synaptotagmin IV regulates glial glutamate release. | Zhang Q, etal., Proc Natl Acad Sci U S A. 2004 Jun 22;101(25):9441-6. Epub 2004 Jun 14. |
28. | Synaptotagmin IV modulation of vesicle size and fusion pores in PC12 cells. | Zhang Z, etal., Biophys J. 2010 Mar 17;98(6):968-78. doi: 10.1016/j.bpj.2009.11.024. |
29. | Release mode of large and small dense-core vesicles specified by different synaptotagmin isoforms in PC12 cells. | Zhang Z, etal., Mol Biol Cell. 2011 Jul 1;22(13):2324-36. doi: 10.1091/mbc.E11-02-0159. Epub 2011 May 5. |
PMID:8626542 | PMID:12060780 | PMID:12135783 | PMID:15390175 | PMID:15496596 | PMID:16407532 | PMID:18468511 | PMID:19103603 | PMID:19136969 | PMID:19448629 | PMID:20010821 | PMID:21287204 |
PMID:21576241 | PMID:22695963 | PMID:23999003 | PMID:28254618 |
Syt4 (Rattus norvegicus - Norway rat) |
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SYT4 (Homo sapiens - human) |
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Syt4 (Mus musculus - house mouse) |
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Syt4 (Chinchilla lanigera - long-tailed chinchilla) |
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SYT4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SYT4 (Canis lupus familiaris - dog) |
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Syt4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SYT4 (Sus scrofa - pig) |
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SYT4 (Chlorocebus sabaeus - green monkey) |
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Syt4 (Heterocephalus glaber - naked mole-rat) |
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Variants in Syt4
26 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH139264 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 70 | ||||||||||||
Low | 3 | 4 | 12 | 4 | 4 | 4 | 16 | 25 | 2 | ||||
Below cutoff | 18 | 15 | 8 | 14 | 8 | 8 | 8 | 4 | 12 | 7 | 8 |
RefSeq Transcripts | NM_031693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | BG666223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CB730279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB786178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ181551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ211592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ228908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L38247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U14398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000023594 ⟹ ENSRNOP00000023593 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000110395 ⟹ ENSRNOP00000097035 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_031693 ⟹ NP_113881 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_113881 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA67327 | (Get FASTA) | NCBI Sequence Viewer |
AAA68519 | (Get FASTA) | NCBI Sequence Viewer | |
ABA00483 | (Get FASTA) | NCBI Sequence Viewer | |
EDL76165 | (Get FASTA) | NCBI Sequence Viewer | |
EDL76166 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000023593 | ||
ENSRNOP00000023593.4 | |||
ENSRNOP00000097035.1 | |||
ENSRNOP00055033718 | |||
ENSRNOP00060038597 | |||
ENSRNOP00065015144 | |||
GenBank Protein | P50232 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_113881 ⟸ NM_031693 |
- UniProtKB: | P50232 (UniProtKB/Swiss-Prot), A6J2N4 (UniProtKB/TrEMBL), Q3S2E5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000023593 ⟸ ENSRNOT00000023594 |
RefSeq Acc Id: | ENSRNOP00000097035 ⟸ ENSRNOT00000110395 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P50232-F1-model_v2 | AlphaFold | P50232 | 1-425 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13700671 | ||||||||
Promoter ID: | EPDNEW_R11195 | ||||||||
Type: | initiation region | ||||||||
Name: | Syt4_1 | ||||||||
Description: | synaptotagmin 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:68397 | AgrOrtholog |
BioCyc Gene | G2FUF-8063 | BioCyc |
Ensembl Genes | ENSRNOG00000017333 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSRNOG00055024114 | UniProtKB/Swiss-Prot | |
ENSRNOG00060026793 | UniProtKB/Swiss-Prot | |
ENSRNOG00065012162 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000023594 | ENTREZGENE |
ENSRNOT00000023594.6 | UniProtKB/Swiss-Prot | |
ENSRNOT00000110395.1 | UniProtKB/TrEMBL | |
ENSRNOT00055041439 | UniProtKB/Swiss-Prot | |
ENSRNOT00060046438 | UniProtKB/Swiss-Prot | |
ENSRNOT00065019770 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.150 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | C2_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
C2_domain_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Synaptotagmin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:64440 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 64440 | ENTREZGENE |
PANTHER | PTHR10024:SF114 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SYNAPTOTAGMIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PF00168 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Syt4 | PhenoGen |
PRINTS | SYNAPTOTAGMN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | PS50004 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000017333 | RatGTEx |
ENSRNOG00055024114 | RatGTEx | |
ENSRNOG00060026793 | RatGTEx | |
ENSRNOG00065012162 | RatGTEx | |
SMART | SM00239 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF49562 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8I6AR88_RAT | UniProtKB/TrEMBL |
A6J2N4 | ENTREZGENE, UniProtKB/TrEMBL | |
P50232 | ENTREZGENE | |
Q3S2E5 | ENTREZGENE, UniProtKB/TrEMBL | |
SYT4_RAT | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-11-25 | Syt4 | synaptotagmin 4 | Syt4 | synaptotagmin IV | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-30 | Syt4 | synaptotagmin IV | synaptotagmin 4 | Name updated | 1299863 | APPROVED | |
2002-06-10 | Syt4 | synaptotagmin 4 | Name updated | 70584 | APPROVED |
Note Type | Note | Reference |
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gene_disease | expression increases in some regions of th brain in response to kainic acid-induced seizures | 730127 |
gene_function | binds to clathrin-adaptor protein AP-2 with high affinity | 68205 |
gene_regulation | mRNA accumulation induced in PC12 cells by potassium depolarization, calcium ionophore, ATP, and forskolin | 730180 |