Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005543 Function Phospholipid binding IBA
GO:0005543 Function Phospholipid binding IEA
GO:0016020 Component Membrane IEA
GO:0042802 Function Identical protein binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610949 23143 ENSG00000143469
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
EKIFYLTKLNLQGKMSLPV
ILEPSYNHSGCDSQMSVSEMSCSESTSSCQSLEHGSVPEIL
IGLLYNATTGRLSAEVIKGSHFKNLAANRPPNTYVKLTLLNSMGQEMSKCKTSIRRGQPN
PVYKETFVFQVALFQLSDVTLILSVYNKRSMKRKEMIGWISLGLNSSGEEELNHWTEM
KE
SKGQQVCRWHALLES
Sequence length 555
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive spinocerebellar ataxia 11 Pathogenic rs387907033 RCV000023846
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SYT14-related disorder Likely benign; Benign rs1351759000, rs768344145, rs752741374, rs141974517, rs142853530, rs376509952 RCV003966328
RCV003912168
RCV003949858
RCV003907979
RCV003907978
RCV003968091
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 34947986
Liver Failure Associate 30013178
Schizophrenia Associate 34947986
Stomach Neoplasms Associate 34229539
Venous Thromboembolism Associate 39729750