ESYT2 (extended synaptotagmin 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 57488 |
| Gene name | Extended synaptotagmin 2 |
| Gene symbol | ESYT2 |
| Synonyms (NCBI Gene) |
CHR2SYTE-Syt2FAM62B
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| Chromosome | 7 |
| Chromosome location | 7q36.3 |
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miRNA
miRNA information provided by mirtarbase database.
727
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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A0FGR8 | |||||||||||||||||||||||||
| Protein name | Extended synaptotagmin-2 (E-Syt2) (Chr2Syt) | |||||||||||||||||||||||||
| Protein function | Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid tr | |||||||||||||||||||||||||
| PDB | 2DMG , 4NPJ , 4NPK , 4P42 | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed with high level in cerebellum. {ECO:0000269|PubMed:17360437}. | |||||||||||||||||||||||||
| Sequence |
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| Sequence length | 921 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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