Gene Gene information from NCBI Gene database.
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
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
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.
MIM HGNC e!Ensembl
600104 11510 ENSG00000143858
Protein Protein information from UniProt database.
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
VKVPMNTVDLGQPIEEWRDL
QGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKM
DVGGLSDPYVKIHLMQNGKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVL
DYDKLGKNEAIGKIFVGSNATGTELRHWSDM
LANPRRPIAQWHSLKPEEEVDALLGKNK
Sequence length 419
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Toxicity of botulinum toxin type B (BoNT/B)
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital myasthenic syndrome 7 Pathogenic; Likely pathogenic rs1690318147, rs2149063996, rs2149064005, rs587777781, rs2526974512 RCV001553803
RCV001553804
RCV001553805
RCV000144451
RCV003989188
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscle weakness Likely pathogenic rs1057518805 RCV000415021
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive Pathogenic; Likely pathogenic rs2149067131, rs2149063864, rs2149069543, rs2149068434, rs2526989632 RCV001553806
RCV001553807
RCV001553808
RCV001553809
RCV003234622
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Respiratory distress Likely pathogenic rs1057518805 RCV000415021
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN THYROID GLAND NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign 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
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 22939005
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bulbar palsy Bulbar palsy HPO_DG
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Cognitive Dysfunction Cognition disorder Pubtator 32776697 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Dysplasia Of The Hip Developmental dysplasia of the hip HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital kyphoscoliosis Congenital kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only