Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
255928
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptotagmin 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYT14
Synonyms (NCBI Gene) Gene synonyms aliases
SCAR11, sytXIV
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCAR11
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610949 23143 ENSG00000143469
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Spinocerebellar ataxia Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926
View all (203 more)
21835308
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
30013178
Unknown
Disease term Disease name Evidence References Source
Spinocerebellar Ataxia autosomal recessive spinocerebellar ataxia 11 GenCC
Alopecia Areata Alopecia Areata GWAS
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Bipolar Disorder Associate 34947986
Liver Failure Associate 30013178
Schizophrenia Associate 34947986
Stomach Neoplasms Associate 34229539
Venous Thromboembolism Associate 39729750