Gene Gene information from NCBI Gene database.
Entrez ID 91683
Gene name Synaptotagmin 12
Gene symbol SYT12
Synonyms (NCBI Gene)
SYT11sytXII
Chromosome 11
Chromosome location 11q13.2
Summary This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that
miRNA miRNA information provided by mirtarbase database.
110
miRTarBase ID miRNA Experiments Reference
MIRT016699 hsa-miR-335-5p Microarray 18185580
MIRT021228 hsa-miR-146a-5p Microarray 18057241
MIRT1407185 hsa-miR-1178 CLIP-seq
MIRT1407186 hsa-miR-1254 CLIP-seq
MIRT1407187 hsa-miR-128 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0005544 Function Calcium-dependent phospholipid binding IBA
GO:0005886 Component Plasma membrane IBA
GO:0008021 Component Synaptic vesicle IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606436 18381 ENSG00000173227
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IV01
Protein name Synaptotagmin-12 (Synaptotagmin XII) (SytXII)
Protein function Synaptic vesicle phosphoprotein that enhances spontaneous neurotransmitter release but does not effect induced neurotransmitter release (By similarity). Unlike other synaptotagmins, it does not bind Ca(2+) or phospholipids (By similarity). Essen
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 167 274 C2 domain Domain
PF00168 C2 298 404 C2 domain Domain
Sequence
MAVDVAEYHLSVIKSPPGWEVGVYAAGALALLGIAAVSLWKLWTSGSFPSPSPFPNYDYR
YLQQKYGESCAEAREKRVPAWNAQRASTRGPPSRKGSLSIEDTFESISELGPLELMGREL
DLAPYGTLRKSQSADSLNSISSVSNTFGQDFTLGQVEVSMEYDTASHTLNVAVMQGKDLL
EREEASFESCFMRVSLLPDEQIVGISRIQRNAYSIFFDEKFSIPLDPTALEEKSLRFSVF
GIDEDERNVSTGVVELKLSVLDLPLQPFSGWLYL
QDQNKAADAVGEILLSLSYLPTAERL
TVVVVKAKNLIWTNDKTTADPFVKVYLLQDGRKMSKKKTAVKRDDPNPVFNEAMIFSVPA
IVLQDLSLRVTVAESSSDGRGDNVGHVIIGPSASGMGTTHWNQM
LATLRRPVSMWHAVRR
N
Sequence length 421
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Neoplasms Associate 36057880, 38095640
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 39472897
★☆☆☆☆
Found in Text Mining only