SYT2
entrez
127833
canonical
uniprot
Q8N9I0
canonical
ensembl
ENSG00000143858
resolver
ensp
ENSP00000356236
resolver
ensp
ENSP00000356237
resolver
ensp
ENSP00000569954
resolver
ensp
ENSP00000569955
resolver
enst
ENST00000367267
resolver
enst
ENST00000367268
resolver
genesymbol
SYT2
resolver
hgnc
HGNC:11510
resolver
uniprot
Q496K5
resolver
uniprot
Q8NBE5
resolver
uniprot_entry
SYT2_HUMAN
resolver
uniprot_sec
Q496K5
resolver
uniprot_sec
Q8NBE5
resolver
amino_acid_sequence
MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAVVAGLLLLTCCFCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENLGKLQFSLDYDFQANQLTVGVLQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTFKVPYQELGGKTLVMAIYDFDRFSKHDIIGEVKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRYVPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQIQKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIAQWHSLKPEEEVDALLGKNK
uniprot
proteins
disease_involvement
DISEASE: Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant (CMS7A) [MIM:616040]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7A is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes. {ECO:0000269|PubMed:25192047, ECO:0000269|PubMed:33320396, ECO:0000269|PubMed:34037996}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive (CMS7B) [MIM:619461]: An autosomal recessive form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7B is characterized by defects at the pre-synaptic neuromuscular junction and severe generalized muscle weakness apparent from birth. Decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement. {ECO:0000269|PubMed:32250532, ECO:0000269|PubMed:32776697, ECO:0000269|PubMed:33659639}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000250|UniProtKB:P46097, ECO:0000269|PubMed:23999003}.
uniprot
proteins
mass_dalton
46872
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Thr-199 by WNK1, changes the calcium requirement for SYT2-binding to phospholipid membranes. {ECO:0000250|UniProtKB:P29101}.
uniprot
proteins
protein_family
Synaptotagmin family
uniprot
proteins
pubmed
11381094
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19234194
uniprot
proteins
pubmed
23999003
uniprot
proteins
pubmed
25192047
uniprot
proteins
pubmed
32250532
uniprot
proteins
pubmed
32776697
uniprot
proteins
pubmed
33320396
uniprot
proteins
pubmed
33659639
uniprot
proteins
pubmed
34037996
uniprot
proteins
pubmed
34151484
uniprot
proteins
sequence_length
419
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:P29101}; Single-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO:0000250|UniProtKB:P21707}; Single-pass membrane protein {ECO:0000250|UniProtKB:P29101}. Cytoplasm {ECO:0000250|UniProtKB:P29101}.
uniprot
proteins
transmembrane_region
TRANSMEM 63..83; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins