Gene Gene information from NCBI Gene database.
Entrez ID 57488
Gene name Extended synaptotagmin 2
Gene symbol ESYT2
Synonyms (NCBI Gene)
CHR2SYTE-Syt2FAM62B
Chromosome 7
Chromosome location 7q36.3
miRNA miRNA information provided by mirtarbase database.
727
miRTarBase ID miRNA Experiments Reference
MIRT016414 hsa-miR-193b-3p Proteomics 21512034
MIRT022374 hsa-miR-124-3p Microarray 18668037
MIRT025347 hsa-miR-34a-5p Proteomics 21566225
MIRT030756 hsa-miR-21-5p Microarray 18591254
MIRT707006 hsa-miR-4438 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 24373768
GO:0005515 Function Protein binding IPI 22119785, 23791178, 27065097, 35271311
GO:0005544 Function Calcium-dependent phospholipid binding IBA
GO:0005544 Function Calcium-dependent phospholipid binding IDA 17360437
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616691 22211 ENSG00000117868
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF17047 SMP_LBD 191 370 Synaptotagmin-like mitochondrial-lipid-binding domain Domain
PF00168 C2 385 491 C2 domain Domain
PF00168 C2 536 635 C2 domain Domain
PF00168 C2 801 910 C2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high level in cerebellum. {ECO:0000269|PubMed:17360437}.
Sequence
MTANRDAALSSHRHPGCAQRPRTPTFASSSQRRSAFGFDDGNFPGLGERSHAPGSRLGAR
RRAKTARGLRGHRQRGAGAGLSRPGSARAPSPPRPGGPENPGGVLSVELPGLLAQLARSF
ALLLPVYALGYLGLSFSWVLLALALLAWCRRSRGLKALRLCRALALLEDEERVVRLGVRA
CDLPAWVHFPDTERAEWLNKTVKHMWPFICQFIEKLFRETIEPAVRGANTHLSTFSFTKV
DVGQQPLRINGVKVYTENVDKRQIILDLQISFVGNCEIDLEIKRYFCRAGVKSIQIHGTM
RVILEPLIGDMPLVGALSIFFLRKPLLEINWTGLTNLLDVPGLNGLSDTIILDIISNYLV
LPNRITVPLV
SEVQIAQLRFPVPKGVLRIHFIEAQDLQGKDTYLKGLVKGKSDPYGIIRV
GNQIFQSRVIKENLSPKWNEVYEALVYEHPGQELEIELFDEDPDKDDFLGSLMIDLIEVE
KERLLDEWFTL
DEVPKGKLHLRLEWLTLMPNASNLDKVLTDIKADKDQANDGLSSALLIL
YLDSARNLPSGKKISSNPNPVVQMSVGHKAQESKIRYKTNEPVWEENFTFFIHNPKRQDL
EVEVRDEQHQCSLGNLKVPLSQLLTSEDMTVSQRF
QLSNSGPNSTIKMKIALRVLHLEKR
ERPPDHQHSAQVKRPSVSKEGRKTSIKSHMSGSPGPGGSNTAPSTPVIGGSDKPGMEEKA
QPPEAGPQGLHDLGRSSSSLLASPGHISVKEPTPSIASDISLPIATQELRQRLRQLENGT
TLGQSPLGQIQLTIRHSSQRNKLIVVVHACRNLIAFSEDGSDPYVRMYLLPDKRRSGRRK
THVSKKTLNPVFDQSFDFSVSLPEVQRRTLDVAVKNSGGFLSKDKGLLGKVLVALASEEL
AKGWTQWYDL
TEDGTRPQAMT
Sequence length 921
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Glycosphingolipid metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uveal melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28577945
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 27555542 Associate
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 28207535 Associate
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 28508933
★☆☆☆☆
Found in Text Mining only