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Aliases for SYT8 Gene

Aliases for SYT8 Gene

  • Synaptotagmin 8 2 3 5
  • Synaptotagmin VIII 2 3 4
  • SytVIII 3 4
  • Synaptotagmin-8 3

External Ids for SYT8 Gene

Previous GeneCards Identifiers for SYT8 Gene

  • GC11M001967
  • GC11P001813
  • GC11P001818
  • GC11P001820
  • GC11P001811
  • GC11P001849
  • GC11P001646

Summaries for SYT8 Gene

Entrez Gene Summary for SYT8 Gene

  • This gene encodes a member of the synaptotagmin protein family. Synaptotagmins are membrane proteins that are important in neurotransmission and hormone secretion, both of which involve regulated exocytosis. Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). This association would link response to gluclose to insulin secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

GeneCards Summary for SYT8 Gene

SYT8 (Synaptotagmin 8) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is SYT5.

UniProtKB/Swiss-Prot for SYT8 Gene

  • Isoform 4 may play a role in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Mediates Ca(2+)-regulation of exocytosis acrosomal reaction in sperm. May mediate Ca(2+)-regulation of exocytosis in insulin secreted cells (By similarity).

Additional gene information for SYT8 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYT8 Gene

Genomics for SYT8 Gene

GeneHancer (GH) Regulatory Elements for SYT8 Gene

Promoters and enhancers for SYT8 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
GH11I001825 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.5 +3.5 3523 10.4 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B ZNF48 YY1 SLC30A9 GLIS2 SYT8 GC11P001831 KRTAP5-3 KRTAP5-5 TNNI2
GH11I001770 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -55.5 -55531 3.8 HDGF PKNOX1 CLOCK ATF1 ARNT NEUROD1 SIN3A ZBTB7B ARID2 FOS SNORA52 TSPAN4 PIDD1 IFITM10 TNNI2 ENSG00000255142 SYT8 KRTAP5-6 LOC100505570 FAM99B
GH11I001871 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 11.7 +44.1 44062 2.3 CTCF RING1 POLR2A ZKSCAN1 LSP1 TNNT3 TNNI2 SYT8 GC11P001865 MIR7847 GC11P001831
GH11I001768 Enhancer 0.9 ENCODE dbSUPER 11.4 -58.5 -58469 0.9 NCOA3 TFAP4 NFIB E2F1 GATA3 EGR1 FOS ZNF687 NR4A1 DACH1 SYT8 TNNI2 KRTAP5-6 FAM99B LOC100505570 CTSD LOC105376517
GH11I002001 Enhancer 0.9 Ensembl ENCODE 11.2 +174.8 174760 1.7 CTCF RB1 EBF1 RAD21 CC2D1A ZNF335 ARID2 VEZF1 ZNF143 SMC3 H19 TNNI2 SYT8 KRTAP5-6 LOC100505570 FAM99B PIR50683 MRPL23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SYT8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SYT8 gene promoter:

Genomic Locations for SYT8 Gene

Genomic Locations for SYT8 Gene
chr11:1,827,479-1,837,521
(GRCh38/hg38)
Size:
10,043 bases
Orientation:
Plus strand
chr11:1,848,709-1,858,751
(GRCh37/hg19)

Genomic View for SYT8 Gene

Genes around SYT8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYT8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYT8 Gene

Proteins for SYT8 Gene

  • Protein details for SYT8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBV8-SYT8_HUMAN
    Recommended name:
    Synaptotagmin-8
    Protein Accession:
    Q8NBV8
    Secondary Accessions:
    • A6NFJ4
    • Q9NSV9

    Protein attributes for SYT8 Gene

    Size:
    401 amino acids
    Molecular mass:
    44138 Da
    Quaternary structure:
    • Homodimer or homooligomer. Homodimerization and homooligomerization do not depend on Ca(2+). Interacts with SYNCRIP isoform 2 C-terminus. Binds inositol 1,3,4,5-tetrakisphosphate (IP4). Binds to AP2 in a Ca(2+)-independent manner. Interacts with STX1A, STX1B and STX2; the interaction is Ca(2+)-dependent (By similarity).
    SequenceCaution:
    • Sequence=AAQ57209.1; Type=Miscellaneous discrepancy; Note=May be due to an intron retention.; Evidence={ECO:0000305}; Sequence=CAB70885.2; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown because it is a pre-mRNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for SYT8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYT8 Gene

Post-translational modifications for SYT8 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SYT8 Gene

Domains & Families for SYT8 Gene

Gene Families for SYT8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SYT8 Gene

Suggested Antigen Peptide Sequences for SYT8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NBV8

UniProtKB/Swiss-Prot:

SYT8_HUMAN :
  • The first C2 domain/C2A does not mediate Ca(2+)-dependent phospholipid binding.
  • Belongs to the synaptotagmin family.
Domain:
  • The first C2 domain/C2A does not mediate Ca(2+)-dependent phospholipid binding.
  • The second C2 domain/C2B is responsible for SYNCRIP and inositol 1,3,4,5-tetrakisphosphate (IP4)-binding.
Family:
  • Belongs to the synaptotagmin family.
genes like me logo Genes that share domains with SYT8: view

Function for SYT8 Gene

Molecular function for SYT8 Gene

UniProtKB/Swiss-Prot Function:
Isoform 4 may play a role in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Mediates Ca(2+)-regulation of exocytosis acrosomal reaction in sperm. May mediate Ca(2+)-regulation of exocytosis in insulin secreted cells (By similarity).

Phenotypes From GWAS Catalog for SYT8 Gene

Gene Ontology (GO) - Molecular Function for SYT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005544 calcium-dependent phospholipid binding IBA --
GO:0019905 syntaxin binding IBA --
GO:0030276 clathrin binding IBA --
GO:0048306 calcium-dependent protein binding IEA --
genes like me logo Genes that share ontologies with SYT8: view
genes like me logo Genes that share phenotypes with SYT8: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SYT8 Gene

Localization for SYT8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYT8 Gene

Cell membrane; Single-pass type III membrane protein. Cytoplasmic vesicle, secretory vesicle, acrosome.

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 SYT8 gene
Compartment Confidence
plasma membrane 4
cytosol 3
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm IEA --
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 SYT8: view

Pathways & Interactions for SYT8 Gene

genes like me logo Genes that share pathways with SYT8: view

Gene Ontology (GO) - Biological Process for SYT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA --
GO:0006906 vesicle fusion IBA --
GO:0007340 acrosome reaction IEA --
GO:0017158 regulation of calcium ion-dependent exocytosis IBA --
GO:0048488 synaptic vesicle endocytosis IBA --
genes like me logo Genes that share ontologies with SYT8: view

No data available for SIGNOR curated interactions for SYT8 Gene

Drugs & Compounds for SYT8 Gene

No Compound Related Data Available

Transcripts for SYT8 Gene

Unigene Clusters for SYT8 Gene

Synaptotagmin VIII:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SYT8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6: - - -
SP7: - -
SP8:
SP9:
SP10: -

Relevant External Links for SYT8 Gene

GeneLoc Exon Structure for
SYT8
ECgene alternative splicing isoforms for
SYT8

Expression for SYT8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SYT8 Gene

mRNA differential expression in normal tissues according to GTEx for SYT8 Gene

This gene is overexpressed in Bladder (x13.1), Skin - Sun Exposed (Lower leg) (x11.1), Skin - Not Sun Exposed (Suprapubic) (x10.3), and Esophagus - Mucosa (x6.0).

NURSA nuclear receptor signaling pathways regulating expression of SYT8 Gene:

SYT8

SOURCE GeneReport for Unigene cluster for SYT8 Gene:

Hs.161031
genes like me logo Genes that share expression patterns with SYT8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SYT8 Gene

Orthologs for SYT8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SYT8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYT8 33 34
  • 98.18 (n)
dog
(Canis familiaris)
Mammalia SYT8 33 34
  • 80.14 (n)
rat
(Rattus norvegicus)
Mammalia Syt8 33
  • 77.63 (n)
mouse
(Mus musculus)
Mammalia Syt8 33 16 34
  • 77.34 (n)
cow
(Bos Taurus)
Mammalia SYT8 33 34
  • 75.83 (n)
chicken
(Gallus gallus)
Aves SYT8 33 34
  • 61.49 (n)
lizard
(Anolis carolinensis)
Reptilia SYT8 34
  • 48 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii syt8 34
  • 44 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8468 34
  • 40 (a)
OneToMany
Species where no ortholog for SYT8 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SYT8 Gene

ENSEMBL:
Gene Tree for SYT8 (if available)
TreeFam:
Gene Tree for SYT8 (if available)

Paralogs for SYT8 Gene

Paralogs for SYT8 Gene

(7) SIMAP similar genes for SYT8 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SYT8: view

Variants for SYT8 Gene

Sequence variations from dbSNP and Humsavar for SYT8 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000285171 -- 1,826,118(+) C/T upstream_transcript_variant
rs1000337311 -- 1,825,953(+) C/T upstream_transcript_variant
rs1000366025 -- 1,837,915(+) G/A downstream_transcript_variant
rs1000539869 -- 1,830,948(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000614662 -- 1,830,086(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SYT8 Gene

Variant ID Type Subtype PubMed ID
esv29980 CNV loss 17803354
nsv1047474 CNV gain 25217958
nsv467645 CNV gain 19166990
nsv467647 CNV loss 19166990
nsv469926 CNV loss 18288195
nsv522320 CNV loss 19592680
nsv553047 CNV gain 21841781
nsv553050 CNV loss 21841781
nsv553051 CNV loss 21841781
nsv553052 CNV gain 21841781
nsv553053 CNV loss 21841781
nsv553054 CNV loss 21841781
nsv951281 CNV deletion 24416366

Variation tolerance for SYT8 Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.41; 97.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYT8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYT8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYT8 Gene

Disorders for SYT8 Gene

Additional Disease Information for SYT8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SYT8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SYT8 Gene

Publications for SYT8 Gene

  1. 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 44 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Ca(2+)-dependent and -independent activities of neural and non-neural synaptotagmins. (PMID: 7791877) Li C … Südhof TC (Nature 1995) 2 3 58
  5. A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. (PMID: 23936387) Östensson M … Torinsson-Naluai Å (PloS one 2013) 3 58

Products for SYT8 Gene

Sources for SYT8 Gene

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