SYT2 (synaptotagmin 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
127833
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptotagmin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYT2
Synonyms (NCBI Gene) Gene synonyms aliases
CMS7, CMS7A, CMS7B, MYSPC, SytII
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1265)
miRTarBase ID miRNA Experiments Reference
MIRT038632 hsa-miR-125b-2-3p CLASH 23622248
MIRT610681 hsa-miR-548ac HITS-CLIP 19536157
MIRT610680 hsa-miR-548bb-3p HITS-CLIP 19536157
MIRT610679 hsa-miR-548d-3p HITS-CLIP 19536157
MIRT610678 hsa-miR-548h-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0005515 Function Protein binding IPI 17500595, 19234194, 28514442, 32296183, 32814053, 33961781
GO:0005544 Function Calcium-dependent phospholipid binding IBA
GO:0005544 Function Calcium-dependent phospholipid binding ISS
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600104 11510 ENSG00000143858
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8N9I0
Protein name Synaptotagmin-2 (Synaptotagmin II) (SytII)
Protein function Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similari
PDB 6G5G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 154 → 260 C2 domain Domain
PF00168 C2 285 → 391 C2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at the neuromuscular junction (PubMed:33659639). Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003, ECO:0000269|PubMed:33659639}.
Sequence 
MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPL
PPWALIAIAVVAGLLLLTCCFCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDA
ETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGVLQAAELPALDMGGTSDPYVK
VFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGE
VKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKM
DVGGLSDPYVKIHLMQNGKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVL
DYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIAQWHSLKPEEEVDALLGKNK
Sequence length 419
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Toxicity of botulinum toxin type B (BoNT/B)
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myasthenic Syndrome Congenital myasthenic syndrome 7 rs587777781 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital finger flexion contractures Flexion contracture N/A N/A ClinVar
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Peripheral axonal neuropathy peripheral axonal neuropathy N/A N/A ClinVar
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cognitive Dysfunction Associate 32776697
Dementia Inhibit 29324989
Distal Hereditary Motor Neuropathy Type II Associate 33105646
Foot Deformities Associate 26519543
Genetic Diseases Inborn Associate 36869887
Lower Extremity Deformities Congenital Associate 26519543
Muscle Hypotonia Associate 32776697
Muscle Weakness Associate 26519543, 32776697
Myasthenic Syndromes Congenital Associate 26519543, 32776697
Nervous System Diseases Associate 33105646