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Aliases for SYT14 Gene

Aliases for SYT14 Gene

  • Synaptotagmin 14 2 3 5
  • Synaptotagmin XIV 2 3 4
  • SytXIV 3 4
  • Synaptotagmin-14 3
  • SCAR11 3

External Ids for SYT14 Gene

Previous GeneCards Identifiers for SYT14 Gene

  • GC01P206750
  • GC01P207190
  • GC01P206514
  • GC01P208178
  • GC01P210112
  • GC01P180796

Summaries for SYT14 Gene

Entrez Gene Summary for SYT14 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 a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]

GeneCards Summary for SYT14 Gene

SYT14 (Synaptotagmin 14) is a Protein Coding gene. Diseases associated with SYT14 include Spinocerebellar Ataxia, Autosomal Recessive 11 and Spinocerebellar Ataxia 11. GO annotations related to this gene include calcium ion binding and protein heterodimerization activity. An important paralog of this gene is ENSG00000283619.

UniProtKB/Swiss-Prot for SYT14 Gene

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

Gene Wiki entry for SYT14 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYT14 Gene

Genomics for SYT14 Gene

Regulatory Elements for SYT14 Gene

Enhancers for SYT14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F209869 1.2 Ensembl ENCODE 35.1 -65.3 -65336 6.9 CTCF IRF2 JUN ZNF223 ZBTB40 RAD21 ZNF7 ZFHX2 SMC3 ZNF600 SYT14 TRAF3IP3 IRF6 DIEXF GC01M209934
GH01F209882 1.5 FANTOM5 Ensembl ENCODE 34.4 -53.9 -53882 4.4 PKNOX1 ATF1 SIN3A FEZF1 GLI4 ZNF2 ELK1 FOS ZNF263 SP3 SYT14 IRF6 TRAF3IP3 LAMB3 GC01M209934 DIEXF
GH01F209879 0.5 ENCODE 34.3 -58.2 -58232 1.2 CTCF ATF1 KLF17 ZNF384 ZNF366 ZBTB48 SCRT2 ZNF600 SCRT1 L3MBTL2 SYT14 TRAF3IP3 DIEXF GC01M209934
GH01F209893 1.1 Ensembl ENCODE 22.3 -42.7 -42695 4.2 ZNF362 JUND JUN EP300 SYT14 DIEXF GC01M209934
GH01F209889 0.7 ENCODE 22.2 -46.7 -46677 3.0 ZNF664 JUND JUN FOS SYT14 GC01M209934 DIEXF
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SYT14 on UCSC Golden Path with GeneCards custom track

Promoters for SYT14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001528333 26 1600 SIN3A RAD21 GLIS2 EGR1 ZNF366 SCRT2 EGR2 SP3 YY2 MIER1

Genomic Location for SYT14 Gene

Chromosome:
1
Start:
209,938,174 bp from pter
End:
210,171,389 bp from pter
Size:
233,216 bases
Orientation:
Plus strand

Genomic View for SYT14 Gene

Genes around SYT14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYT14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYT14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYT14 Gene

Proteins for SYT14 Gene

  • Protein details for SYT14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NB59-SYT14_HUMAN
    Recommended name:
    Synaptotagmin-14
    Protein Accession:
    Q8NB59
    Secondary Accessions:
    • B1AJU0
    • B1AJU1
    • F5H426
    • Q5THX7
    • Q707N3
    • Q707N4
    • Q707N5
    • Q707N6
    • Q707N7

    Protein attributes for SYT14 Gene

    Size:
    555 amino acids
    Molecular mass:
    62287 Da
    Quaternary structure:
    • Homodimer. Can also form heterodimers (By similarity).

    Alternative splice isoforms for SYT14 Gene

neXtProt entry for SYT14 Gene

Post-translational modifications for SYT14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SYT14 Gene

Domains & Families for SYT14 Gene

Gene Families for SYT14 Gene

Protein Domains for SYT14 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SYT14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NB59

UniProtKB/Swiss-Prot:

SYT14_HUMAN :
  • Contains 2 C2 domains.
  • Belongs to the synaptotagmin family.
Domain:
  • Contains 2 C2 domains.
Family:
  • Belongs to the synaptotagmin family.
genes like me logo Genes that share domains with SYT14: view

Function for SYT14 Gene

Molecular function for SYT14 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.

Gene Ontology (GO) - Molecular Function for SYT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005544 NOT calcium-dependent phospholipid binding IBA --
GO:0019905 syntaxin binding IBA --
GO:0030276 clathrin binding IBA --
genes like me logo Genes that share ontologies with SYT14: view
genes like me logo Genes that share phenotypes with SYT14: view

Human Phenotype Ontology for SYT14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SYT14

miRNA for SYT14 Gene

miRTarBase miRNAs that target SYT14

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SYT14 Gene

Localization for SYT14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYT14 Gene

Membrane; Single-pass type III membrane protein. Note=Localized in perinuclear and submembranous regions.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYT14 Gene COMPARTMENTS Subcellular localization image for SYT14 gene
Compartment Confidence
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SYT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SYT14: view

Pathways & Interactions for SYT14 Gene

SuperPathways for SYT14 Gene

No Data Available

Interacting Proteins for SYT14 Gene

Gene Ontology (GO) - Biological Process for SYT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006906 vesicle fusion IBA --
GO:0017158 NOT regulation of calcium ion-dependent exocytosis IBA --
GO:0048791 NOT calcium ion-regulated exocytosis of neurotransmitter IBA --
genes like me logo Genes that share ontologies with SYT14: view

No data available for Pathways by source and SIGNOR curated interactions for SYT14 Gene

Transcripts for SYT14 Gene

mRNA/cDNA for SYT14 Gene

Unigene Clusters for SYT14 Gene

Synaptotagmin XIV:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SYT14 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for SYT14 Gene

GeneLoc Exon Structure for
SYT14
ECgene alternative splicing isoforms for
SYT14

Expression for SYT14 Gene

mRNA expression in normal human tissues for SYT14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SYT14 Gene

This gene is overexpressed in Brain - Cerebellum (x6.0), Pituitary (x5.3), and Testis (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of SYT14 Gene:

SYT14

SOURCE GeneReport for Unigene cluster for SYT14 Gene:

Hs.658866

mRNA Expression by UniProt/SwissProt for SYT14 Gene:

Q8NB59-SYT14_HUMAN
Tissue specificity: Highly expressed in fetal and adult brain tissue.
genes like me logo Genes that share expression patterns with SYT14: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SYT14 Gene

Orthologs for SYT14 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYT14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYT14 34 35
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia SYT14 34 35
  • 96.08 (n)
cow
(Bos Taurus)
Mammalia LOC787880 34
  • 94.71 (n)
SYT14 35
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SYT14 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYT14 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syt14 34
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Syt14 34 16 35
  • 88.95 (n)
chicken
(Gallus gallus)
Aves SYT14 34 35
  • 87.76 (n)
lizard
(Anolis carolinensis)
Reptilia SYT14 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia syt14 34
  • 76.76 (n)
zebrafish
(Danio rerio)
Actinopterygii syt14a 34 35
  • 67.96 (n)
syt14b 35
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Syt14 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D2023.3 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
Species where no ortholog for SYT14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SYT14 Gene

ENSEMBL:
Gene Tree for SYT14 (if available)
TreeFam:
Gene Tree for SYT14 (if available)

Paralogs for SYT14 Gene

Paralogs for SYT14 Gene

(3) SIMAP similar genes for SYT14 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SYT14 Gene

genes like me logo Genes that share paralogs with SYT14: view

Variants for SYT14 Gene

Sequence variations from dbSNP and Humsavar for SYT14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs387907033 Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229], Pathogenic 210,155,872(+) AAAAG(A/C/G)CAGCC nc-transcript-variant, reference, missense
rs17188183 Likely benign 210,160,736(+) ACATA(C/T)GTTAA nc-transcript-variant, reference, synonymous-codon
rs144713062 Uncertain significance 210,094,549(+) GATAT(-/GAA)GAAGA intron-variant, nc-transcript-variant, cds-indel
rs2307890 Uncertain significance 210,094,554(-) GAACA(-/TCT)TCTTC intron-variant, nc-transcript-variant, cds-indel
rs1002382 -- 210,139,415(-) TAATC(C/T)AGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SYT14 Gene

Variant ID Type Subtype PubMed ID
dgv797n54 CNV loss 21841781
esv1564426 CNV deletion 17803354
esv2399148 CNV deletion 18987734
esv2561272 CNV deletion 19546169
esv2657303 CNV deletion 23128226
esv2663015 CNV deletion 23128226
esv2663327 CNV deletion 23128226
esv2722251 CNV deletion 23290073
esv2722262 CNV deletion 23290073
esv3545855 CNV deletion 23714750
esv3545866 CNV deletion 23714750
esv3588711 CNV loss 21293372
esv3588712 CNV gain 21293372
esv3588714 CNV loss 21293372
esv3588715 CNV loss 21293372
esv4684 CNV loss 18987735
esv8433 CNV loss 19470904
nsv1068466 CNV deletion 25765185
nsv1133934 CNV deletion 24896259
nsv160698 CNV insertion 16902084
nsv4365 CNV insertion 18451855
nsv468072 CNV loss 19166990
nsv818800 CNV gain 17921354
nsv958179 CNV deletion 24416366

Variation tolerance for SYT14 Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.37; 70.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYT14 Gene

Human Gene Mutation Database (HGMD)
SYT14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYT14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYT14 Gene

Disorders for SYT14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SYT14 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 11
  • autosomal recessive spinocerebellar ataxia 11
spinocerebellar ataxia 11
  • spinocerebellar ataxia type 11
- elite association - COSMIC cancer census association via MalaCards
Search SYT14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYT14_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation. {ECO:0000269 PubMed:21835308}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SYT14

Genetic Association Database (GAD)
SYT14
Human Genome Epidemiology (HuGE) Navigator
SYT14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYT14
genes like me logo Genes that share disorders with SYT14: view

No data available for Genatlas for SYT14 Gene

Publications for SYT14 Gene

  1. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. (PMID: 21835308) Doi H. … Matsumoto N. (Am. J. Hum. Genet. 2011) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Synaptotagmin gene content of the sequenced genomes. (PMID: 15238157) Craxton M.A. (BMC Genomics 2004) 3 4 64

Products for SYT14 Gene

Sources for SYT14 Gene

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