Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMS7A, CMS7B
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA 21873635
GO:0001786 Function Phosphatidylserine binding IBA 21873635
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005515 Function Protein binding IPI 17500595, 19234194, 32296183, 32814053
GO:0005544 Function Calcium-dependent phospholipid binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600104 11510 ENSG00000143858
Protein
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Myasthenic syndrome Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Presynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922
View all (237 more)
25192047, 30533528
Epilepsy Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
26220383
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Myasthenic Syndrome congenital myasthenic syndrome 7, presynaptic congenital myasthenic syndrome GenCC
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
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