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 associat... See more...

Aliases for SYT14 Gene

Aliases for SYT14 Gene

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

External Ids for SYT14 Gene

Previous GeneCards Identifiers for SYT14 Gene

  • GC01P206750
  • GC01P207190
  • GC01P206514
  • GC01P208178
  • GC01P210112
  • GC01P180796
  • GC01P209938

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. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein heterodimerization activity. An important paralog of this gene is SYT16.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SYT14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYT14 Gene

Genomics for SYT14 Gene

GeneHancer (GH) Regulatory Elements for SYT14 Gene

Promoters and enhancers for SYT14 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J209937 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 750.3 +37.5 37477 2.4 CTBP1 TFE3 SP7 PRDM1 KLF14 GLIS2 ZIC2 POLR2A REST ZBTB8A lnc-IRF6-1 SYT14 piR-48222-030
GH01J209899 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 750.6 +0.2 224 3 CTCF REST FOS ZNF143 JUND SYT14 IRF6 piR-45874-018
GH01J209869 Enhancer 1 Ensembl ENCODE dbSUPER 35.2 -27.5 -27522 8.8 ZBTB40 CTCF ZNF362 RAD21 SP7 ZSCAN21 POLR2A ZNF7 JUN JUND HSALNG0010234 SYT14 TRAF3IP3 IRF6 piR-47162-012
GH01J209822 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 -74.8 -74761 7.3 FOXK2 SIN3A ZNF24 ZBTB40 CTCF MLX SMARCE1 RBPJ POLR2A USF2 UTP25 lnc-IRF6-2 IRF6 SYT14 C1orf74 HSD11B1-AS1 TRAF3IP3 RF00017-462 HSALNG0010228
GH01J209879 Enhancer 0.9 Ensembl ENCODE dbSUPER 34.4 -21.1 -21122 1.6 SP7 ZSCAN21 KLF14 POLR2A ZXDB ZBTB48 ZBTB17 FOXA2 ZNF366 ZNF335 SYT14 TRAF3IP3 HSALNG0010234 piR-47162-012
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYT14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SYT14 gene promoter:
  • C/EBPalpha
  • Cdc5
  • Evi-1
  • HSF1 (long)
  • HSF1short
  • HTF
  • MIF-1
  • Pax-4a
  • TBP

Genomic Locations for SYT14 Gene

Genomic Locations for SYT14 Gene
chr1:209,900,923-210,171,389
(GRCh38/hg38)
Size:
270,467 bases
Orientation:
Plus strand
chr1:210,111,538-210,337,636
(GRCh37/hg19)
Size:
226,099 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SYT14 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SYT14 Gene

GenScript: Design optimal peptide antigens:
  • SYT14 protein (A1L3Y1_HUMAN)
  • Synaptotagmin XIV (SYT14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NB59

UniProtKB/Swiss-Prot:

SYT14_HUMAN :
  • Belongs to the synaptotagmin family.
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.

Phenotypes From GWAS Catalog for SYT14 Gene

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

CRISPR Products

miRNA for SYT14 Gene

miRTarBase miRNAs that target SYT14

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYT14 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 1
mitochondrion 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SYT14 Gene

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

Pathways & Interactions for SYT14 Gene

PathCards logo

SuperPathways for SYT14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SYT14 Gene

None

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

Drugs & Compounds for SYT14 Gene

No Compound Related Data Available

Transcripts for SYT14 Gene

mRNA/cDNA for SYT14 Gene

(5) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for SYT14 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SYT14 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SYT14: view

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 33 32
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SYT14 33 32
  • 96.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC787880 32
  • 94.71 (n)
SYT14 33
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYT14 33
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SYT14 33
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syt14 32
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Syt14 17 33 32
  • 88.95 (n)
chicken
(Gallus gallus)
Aves SYT14 33 32
  • 87.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYT14 33
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia syt14 32
  • 76.76 (n)
zebrafish
(Danio rerio)
Actinopterygii syt14a 33 32
  • 67.96 (n)
OneToMany
syt14b 33
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Syt14 33
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D2023.3 33
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SYT14: view image

Paralogs for SYT14 Gene

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

  • SYT14_HUMAN
  • A1L3Y1_HUMAN
  • F5H1A2_HUMAN

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 Variation AA Info Type
rs17188183 likely-benign, benign, not specified, Spinocerebellar ataxia, autosomal recessive 11 210,160,736(+) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs2307890 uncertain-significance, benign, not specified, Spinocerebellar ataxia, autosomal recessive 11 210,094,549(+) GAAGAAGA/GAAGA coding_sequence_variant, inframe_deletion, intron_variant, non_coding_transcript_variant
rs387907033 pathogenic, Spinocerebellar ataxia, autosomal recessive 11, Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229] 210,155,872(+) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1553255775 likely-pathogenic, not provided 209,938,278(+) G/A genic_upstream_transcript_variant, splice_donor_variant
rs368545452 likely-pathogenic, not provided 209,938,252(+) T/C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, initiator_codon_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_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)

Additional Variant Information for SYT14 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, and GeneCards

- 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]: A form of spinocerebellar ataxia, 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.

Additional Disease Information for SYT14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (American journal of human genetics 2011) 3 4 56
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. Synaptotagmin gene content of the sequenced genomes. (PMID: 15238157) Craxton M (BMC genomics 2004) 3 4 56

Products for SYT14 Gene

Sources for SYT14 Gene