SYT2 (synaptotagmin 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 127833
Gene name Synaptotagmin 2
Gene symbol SYT2
Synonyms (NCBI Gene)
CMS7CMS7ACMS7BMYSPCSytII
Chromosome 1
Chromosome location 1q32.1
Summary 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.
1265
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600104 11510 ENSG00000143858
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital myasthenic syndrome 7 Pathogenic; Likely pathogenic rs1690318147, rs2149063996, rs2149064005, rs587777781, rs2526974512 RCV001553803
RCV001553804
RCV001553805
RCV000144451
RCV003989188
Muscle weakness Likely pathogenic rs1057518805 RCV000415021
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive Pathogenic; Likely pathogenic rs2149067131, rs2149063864, rs2149069543, rs2149068434, rs2526989632 RCV001553806
RCV001553807
RCV001553808
RCV001553809
RCV003234622
Respiratory distress Likely pathogenic rs1057518805 RCV000415021
Show/Hide Unknown Diseases (15)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs907699 RCV005921744
Cervical cancer Benign rs907697 RCV005918200
Cholangiocarcinoma Benign rs907699 RCV005921749
Colon adenocarcinoma Benign rs907699 RCV005921743
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease 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