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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	255928
Gene name	Synaptotagmin 14
Gene symbol	SYT14
Synonyms (NCBI Gene)	SCAR11sytXIV
Chromosome	1
Chromosome location	1q32.2
Summary	This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs368545452	T>C,G	Likely-pathogenic	Upstream transcript variant, non coding transcript variant, initiator codon variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs387907033	G>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1553255775	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant

Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016916	hsa-miR-335-5p	Microarray	18185580
MIRT021754	hsa-miR-132-3p	Microarray	17612493
MIRT1407422	hsa-miR-1252	CLIP-seq
MIRT1407423	hsa-miR-15a	CLIP-seq
MIRT1407424	hsa-miR-15b	CLIP-seq
MIRT1407425	hsa-miR-16	CLIP-seq
MIRT1407426	hsa-miR-195	CLIP-seq
MIRT1407427	hsa-miR-3140-3p	CLIP-seq
MIRT1407428	hsa-miR-3591-5p	CLIP-seq
MIRT1407429	hsa-miR-3611	CLIP-seq
MIRT1407430	hsa-miR-424	CLIP-seq
MIRT1407431	hsa-miR-4325	CLIP-seq
MIRT1407432	hsa-miR-4428	CLIP-seq
MIRT1407433	hsa-miR-4473	CLIP-seq
MIRT1407434	hsa-miR-4671-3p	CLIP-seq
MIRT1407435	hsa-miR-4760-5p	CLIP-seq
MIRT1407436	hsa-miR-4773	CLIP-seq
MIRT1407437	hsa-miR-497	CLIP-seq
MIRT1407438	hsa-miR-507	CLIP-seq
MIRT1407439	hsa-miR-512-3p	CLIP-seq
MIRT1407440	hsa-miR-520f	CLIP-seq
MIRT1407441	hsa-miR-557	CLIP-seq
MIRT1407442	hsa-miR-889	CLIP-seq
MIRT1407443	hsa-miR-922	CLIP-seq
MIRT1407444	hsa-miR-1270	CLIP-seq
MIRT1407445	hsa-miR-1303	CLIP-seq
MIRT1407446	hsa-miR-146a	CLIP-seq
MIRT1407447	hsa-miR-146b-5p	CLIP-seq
MIRT1407448	hsa-miR-1827	CLIP-seq
MIRT1407449	hsa-miR-3125	CLIP-seq
MIRT1407450	hsa-miR-3133	CLIP-seq
MIRT1407451	hsa-miR-3916	CLIP-seq
MIRT1407452	hsa-miR-3925-5p	CLIP-seq
MIRT1407453	hsa-miR-3928	CLIP-seq
MIRT1407454	hsa-miR-3937	CLIP-seq
MIRT1407455	hsa-miR-4434	CLIP-seq
MIRT1407456	hsa-miR-4516	CLIP-seq
MIRT1407457	hsa-miR-4517	CLIP-seq
MIRT1407458	hsa-miR-4531	CLIP-seq
MIRT1407459	hsa-miR-4649-3p	CLIP-seq
MIRT1407460	hsa-miR-4699-5p	CLIP-seq
MIRT1407461	hsa-miR-4753-3p	CLIP-seq
MIRT1407462	hsa-miR-4772-5p	CLIP-seq
MIRT1407436	hsa-miR-4773	CLIP-seq
MIRT1407463	hsa-miR-571	CLIP-seq
MIRT1407464	hsa-miR-606	CLIP-seq
MIRT1407465	hsa-miR-620	CLIP-seq
MIRT1407466	hsa-miR-658	CLIP-seq
MIRT1407467	hsa-miR-9	CLIP-seq
MIRT2344354	hsa-miR-579	CLIP-seq
MIRT2461027	hsa-miR-1253	CLIP-seq
MIRT1407432	hsa-miR-4428	CLIP-seq
MIRT2637878	hsa-miR-1243	CLIP-seq
MIRT1407444	hsa-miR-1270	CLIP-seq
MIRT2637879	hsa-miR-1279	CLIP-seq
MIRT1407446	hsa-miR-146a	CLIP-seq
MIRT1407447	hsa-miR-146b-5p	CLIP-seq
MIRT2637880	hsa-miR-186	CLIP-seq
MIRT2637881	hsa-miR-197	CLIP-seq
MIRT1407450	hsa-miR-3133	CLIP-seq
MIRT2637882	hsa-miR-323-3p	CLIP-seq
MIRT2637883	hsa-miR-412	CLIP-seq
MIRT1407455	hsa-miR-4434	CLIP-seq
MIRT1407456	hsa-miR-4516	CLIP-seq
MIRT1407458	hsa-miR-4531	CLIP-seq
MIRT2637884	hsa-miR-4719	CLIP-seq
MIRT2637885	hsa-miR-520d-5p	CLIP-seq
MIRT2637886	hsa-miR-524-5p	CLIP-seq
MIRT1407463	hsa-miR-571	CLIP-seq
MIRT2637887	hsa-miR-589	CLIP-seq
MIRT1407464	hsa-miR-606	CLIP-seq
MIRT1407465	hsa-miR-620	CLIP-seq

Show/Hide all (4)

GO ID	Ontology	Definition	Evidence
GO:0005543	Function	Phospholipid binding	IBA
GO:0005543	Function	Phospholipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0042802	Function	Identical protein binding	IEA

MIM	HGNC	e!Ensembl
610949	23143	ENSG00000143469

Q8NB59

Protein name

Synaptotagmin-14 (Synaptotagmin XIV) (SytXIV)

Protein function

May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	275 → 379	C2 domain	Domain
PF00168	C2	430 → 538	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in fetal and adult brain tissue. {ECO:0000269|PubMed:21835308}.

Sequence

MAIEGGERTCGVHELICIRKVSPEAVGFLSAVGVFIILMLLLFLYINKKFCFENVGGFPD
LGSEYSTRKNSQDKIYNSYMDKDEHGSSSESEDEALGKYHEALSRTHNSRLPLADSRQRN
YAWETRQKYSPLSAEYDGYSSEASIDEGNCIQRMRRTPPLDELQPPPYQDDSGSPHLSCT
PSEIGDSKCEFSHCSNSPRCSYNKCPSEGSTGHEIESFHNKGYEEDVPSDSTAVLSPEDM
SAQGSSSQLPKPFDPEPEAKYGTLDVTFDYDSQEQKLLVTVTAVTDIPTYNRTGGNSWQV
HLVLLPIKKQRAKTSIQRGPCPVFTETFKFNHVESEMIGNYAVRFRLYGVHRMKKEKIVG
EKIFYLTKLNLQGKMSLPVILEPSYNHSGCDSQMSVSEMSCSESTSSCQSLEHGSVPEIL
IGLLYNATTGRLSAEVIKGSHFKNLAANRPPNTYVKLTLLNSMGQEMSKCKTSIRRGQPN
PVYKETFVFQVALFQLSDVTLILSVYNKRSMKRKEMIGWISLGLNSSGEEELNHWTEMKE
SKGQQVCRWHALLES

Sequence length

555

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive spinocerebellar ataxia 11	Pathogenic	rs387907033	RCV000023846	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA, PSYCHOMOTOR DELAY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-PSYCHOMOTOR DELAY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYT14-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	21835308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	Cerebellar Ataxia-Psychomotor Delay Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	34947986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29634997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30013178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	30013178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21835308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34947986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11	Spinocerebellar Ataxia	UNIPROT_DG	21835308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11	Spinocerebellar Ataxia	ORPHANET_DG	21835308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	34229539	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	39729750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SYT14 (synaptotagmin 14)