Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
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

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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
MIRT1407188	hsa-miR-296-5p	CLIP-seq
MIRT1407189	hsa-miR-3116	CLIP-seq
MIRT1407190	hsa-miR-3155	CLIP-seq
MIRT1407191	hsa-miR-3155b	CLIP-seq
MIRT1407192	hsa-miR-4505	CLIP-seq
MIRT1407193	hsa-miR-4722-3p	CLIP-seq
MIRT1407194	hsa-miR-4769-3p	CLIP-seq
MIRT1407195	hsa-miR-484	CLIP-seq
MIRT1407196	hsa-miR-515-3p	CLIP-seq
MIRT1407197	hsa-miR-519e	CLIP-seq
MIRT1407198	hsa-miR-550a	CLIP-seq
MIRT1407199	hsa-miR-661	CLIP-seq
MIRT1407200	hsa-miR-103b	CLIP-seq
MIRT1407201	hsa-miR-136	CLIP-seq
MIRT1407202	hsa-miR-145	CLIP-seq
MIRT1407203	hsa-miR-1538	CLIP-seq
MIRT1407204	hsa-miR-193a-3p	CLIP-seq
MIRT1407205	hsa-miR-193b	CLIP-seq
MIRT1407206	hsa-miR-3143	CLIP-seq
MIRT1407207	hsa-miR-3180-5p	CLIP-seq
MIRT1407208	hsa-miR-3651	CLIP-seq
MIRT1407209	hsa-miR-4267	CLIP-seq
MIRT1407210	hsa-miR-4278	CLIP-seq
MIRT1407211	hsa-miR-4286	CLIP-seq
MIRT1407212	hsa-miR-4317	CLIP-seq
MIRT1407213	hsa-miR-4642	CLIP-seq
MIRT1407214	hsa-miR-4660	CLIP-seq
MIRT1407215	hsa-miR-4690-3p	CLIP-seq
MIRT1407216	hsa-miR-4707-3p	CLIP-seq
MIRT1407217	hsa-miR-4715-5p	CLIP-seq
MIRT1407218	hsa-miR-4716-3p	CLIP-seq
MIRT1407219	hsa-miR-4745-3p	CLIP-seq
MIRT1407220	hsa-miR-4746-5p	CLIP-seq
MIRT1407221	hsa-miR-4749-3p	CLIP-seq
MIRT1407222	hsa-miR-4777-5p	CLIP-seq
MIRT1407223	hsa-miR-518d-5p	CLIP-seq
MIRT1407224	hsa-miR-519b-5p	CLIP-seq
MIRT1407225	hsa-miR-519c-5p	CLIP-seq
MIRT1407226	hsa-miR-520a-5p	CLIP-seq
MIRT1407227	hsa-miR-520c-5p	CLIP-seq
MIRT1407228	hsa-miR-525-5p	CLIP-seq
MIRT1407229	hsa-miR-526a	CLIP-seq
MIRT1407230	hsa-miR-646	CLIP-seq
MIRT1407231	hsa-miR-659	CLIP-seq
MIRT1407232	hsa-miR-941	CLIP-seq
MIRT2122033	hsa-miR-1207-3p	CLIP-seq
MIRT2122034	hsa-miR-1324	CLIP-seq
MIRT1407201	hsa-miR-136	CLIP-seq
MIRT1407203	hsa-miR-1538	CLIP-seq
MIRT2122035	hsa-miR-1587	CLIP-seq
MIRT1407204	hsa-miR-193a-3p	CLIP-seq
MIRT1407205	hsa-miR-193b	CLIP-seq
MIRT2122036	hsa-miR-3065-3p	CLIP-seq
MIRT2122037	hsa-miR-3130-3p	CLIP-seq
MIRT2122038	hsa-miR-3160-3p	CLIP-seq
MIRT2122039	hsa-miR-3616-3p	CLIP-seq
MIRT2122040	hsa-miR-3677-5p	CLIP-seq
MIRT2122041	hsa-miR-378g	CLIP-seq
MIRT2122042	hsa-miR-4252	CLIP-seq
MIRT1407212	hsa-miR-4317	CLIP-seq
MIRT2122043	hsa-miR-4468	CLIP-seq
MIRT2122044	hsa-miR-4481	CLIP-seq
MIRT2122045	hsa-miR-4492	CLIP-seq
MIRT2122046	hsa-miR-4498	CLIP-seq
MIRT2122047	hsa-miR-4638-3p	CLIP-seq
MIRT2122048	hsa-miR-4656	CLIP-seq
MIRT1407214	hsa-miR-4660	CLIP-seq
MIRT2122049	hsa-miR-4675	CLIP-seq
MIRT2122050	hsa-miR-4691-3p	CLIP-seq
MIRT1407216	hsa-miR-4707-3p	CLIP-seq
MIRT2122051	hsa-miR-4711-5p	CLIP-seq
MIRT2122052	hsa-miR-4741	CLIP-seq
MIRT1407219	hsa-miR-4745-3p	CLIP-seq
MIRT2122053	hsa-miR-4745-5p	CLIP-seq
MIRT2122054	hsa-miR-4758-5p	CLIP-seq
MIRT2122055	hsa-miR-4761-3p	CLIP-seq
MIRT1407194	hsa-miR-4769-3p	CLIP-seq
MIRT2122056	hsa-miR-516a-3p	CLIP-seq
MIRT1407230	hsa-miR-646	CLIP-seq
MIRT2122057	hsa-miR-762	CLIP-seq
MIRT2122058	hsa-miR-766	CLIP-seq
MIRT2122059	hsa-miR-1913	CLIP-seq
MIRT2122060	hsa-miR-324-3p	CLIP-seq
MIRT2122061	hsa-miR-4313	CLIP-seq
MIRT1407201	hsa-miR-136	CLIP-seq
MIRT1407203	hsa-miR-1538	CLIP-seq
MIRT1407204	hsa-miR-193a-3p	CLIP-seq
MIRT1407205	hsa-miR-193b	CLIP-seq
MIRT1407212	hsa-miR-4317	CLIP-seq
MIRT1407214	hsa-miR-4660	CLIP-seq
MIRT1407216	hsa-miR-4707-3p	CLIP-seq
MIRT1407219	hsa-miR-4745-3p	CLIP-seq
MIRT1407230	hsa-miR-646	CLIP-seq
MIRT2461006	hsa-miR-204	CLIP-seq
MIRT2461007	hsa-miR-211	CLIP-seq
MIRT2461008	hsa-miR-3670	CLIP-seq
MIRT2461009	hsa-miR-4287	CLIP-seq
MIRT2461010	hsa-miR-4293	CLIP-seq
MIRT2461011	hsa-miR-4685-3p	CLIP-seq
MIRT2461006	hsa-miR-204	CLIP-seq
MIRT2461007	hsa-miR-211	CLIP-seq
MIRT2461008	hsa-miR-3670	CLIP-seq
MIRT2461009	hsa-miR-4287	CLIP-seq
MIRT2461010	hsa-miR-4293	CLIP-seq
MIRT2461011	hsa-miR-4685-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence
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
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0017158	Process	Regulation of calcium ion-dependent exocytosis	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045202	Component	Synapse	IEA
GO:0048792	Process	Spontaneous exocytosis of neurotransmitter	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0061891	Function	Calcium ion sensor activity	IBA
GO:0070382	Component	Exocytic vesicle	IBA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA

MIM	HGNC	e!Ensembl
606436	18381	ENSG00000173227

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
GIDEDERNVSTGVVELKLSVLDLPLQPFSGWLYLQDQNKAADAVGEILLSLSYLPTAERL
TVVVVKAKNLIWTNDKTTADPFVKVYLLQDGRKMSKKKTAVKRDDPNPVFNEAMIFSVPA
IVLQDLSLRVTVAESSSDGRGDNVGHVIIGPSASGMGTTHWNQMLATLRRPVSMWHAVRR
N

Sequence length

421

Interactions

View interactions

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	34857756, 40631452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34857756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35753051	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22939844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31598163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36170810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31598163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30582321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30582321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27278822	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15354386, 21812969, 22786590, 24312176, 24631562, 26944171, 27278822, 27393345, 28686317, 28830825, 29311685, 30808661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21812969, 22786590, 24312176, 27278822, 27393345, 33349842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17192956, 30808661		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17192956		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17192956		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	39472897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SYT12 (synaptotagmin 12)