SV2A
entrez
9900
canonical
uniprot
Q7L0J3
canonical
ensembl
ENSG00000159164
resolver
ensp
ENSP00000358142
resolver
ensp
ENSP00000574207
resolver
ensp
ENSP00000614354
resolver
genesymbol
SV2A
resolver
genesymbol_syn
KIAA0736
resolver
hgnc
HGNC:20566
resolver
uniprot
B4E000
resolver
uniprot
D3DUZ7
resolver
uniprot
O94841
resolver
uniprot
Q5QNX8
resolver
uniprot
Q7Z3L6
resolver
uniprot
Q8NBJ6
resolver
uniprot
Q9BVZ9
resolver
uniprot_entry
B4E000_HUMAN
resolver
uniprot_entry
SV2A_HUMAN
resolver
uniprot_sec
D3DUZ7
resolver
uniprot_sec
O94841
resolver
uniprot_sec
Q5QNX8
resolver
uniprot_sec
Q7Z3L6
resolver
uniprot_sec
Q8NBJ6
resolver
uniprot_sec
Q9BVZ9
resolver
amino_acid_sequence
MEEGFRDRAAFIRGAKDIAKEVKKHAAKKVVKGLDRVQDEYSRRSYSRFEEEDDDDDFPAPSDGYYRGEGTQDEEEGGASSDATEGHDEDDEIYEGEYQGIPRAESGGKGERMADGAPLAGVRGGLSDGEGPPGGRGEAQRRKEREELAQQYEAILRECGHGRFQWTLYFVLGLALMADGVEVFVVGFVLPSAEKDMCLSDSNKGMLGLIVYLGMMVGAFLWGGLADRLGRRQCLLISLSVNSVFAFFSSFVQGYGTFLFCRLLSGVGIGGSIPIVFSYFSEFLAQEKRGEHLSWLCMFWMIGGVYAAAMAWAIIPHYGWSFQMGSAYQFHSWRVFVLVCAFPSVFAIGALTTQPESPRFFLENGKHDEAWMVLKQVHDTNMRAKGHPERVFSVTHIKTIHQEDELIEIQSDTGTWYQRWGVRALSLGGQVWGNFLSCFGPEYRRITLMMMGVWFTMSFSYYGLTVWFPDMIRHLQAVDYASRTKVFPGERVEHVTFNFTLENQIHRGGQYFNDKFIGLRLKSVSFEDSLFEECYFEDVTSSNTFFRNCTFINTVFYNTDLFEYKFVNSRLINSTFLHNKEGCPLDVTGTGEGAYMVYFVSFLGTLAVLPGNIVSALLMDKIGRLRMLAGSSVMSCVSCFFLSFGNSESAMIALLCLFGGVSIASWNALDVLTVELYPSDKRTTAFGFLNALCKLAAVLGISIFTSFVGITKAAPILFASAALALGSSLALKLPETRGQVLQ
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 113 (DEE113) [MIM:620772]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE113 is an autosomal recessive form characterized by severe early-onset recurrent epilepsy. {ECO:0000269|PubMed:26002053, ECO:0000269|PubMed:37985816}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity). {ECO:0000250}.; FUNCTION: (Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1. {ECO:0000269|PubMed:29649119, ECO:0000305|PubMed:29649119}.
uniprot
proteins
mass_dalton
82695
uniprot
proteins
post_translational_modification
PTM: Phosphorylation by CK1 of the N-terminal cytoplasmic domain regulates interaction with SYT1. {ECO:0000250}.; PTM: N-glycosylated. {ECO:0000250}.
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
pubmed
15210974
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
26002053
uniprot
proteins
pubmed
29649119
uniprot
proteins
pubmed
37985816
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
742
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Presynapse {ECO:0000250|UniProtKB:Q9JIS5}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q02563}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q02563}. Note=Enriched in chromaffin granules, not present in adrenal microsomes. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas (By similarity). Colocalizes with ATP2B1 at photoreceptor synaptic terminals. {ECO:0000250|UniProtKB:Q02563, ECO:0000250|UniProtKB:Q9JIS5}.
uniprot
proteins
transmembrane_region
TRANSMEM 170..190; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 206..226; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 234..254; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 263..283; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 295..315; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 335..355; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 448..468; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 599..619; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 627..647; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 652..672; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 686..708; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 713..731; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins