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    SYT8 synaptotagmin 8 [ Homo sapiens (human) ]

    Gene ID: 90019, updated on 14-Nov-2024

    Summary

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    Official Symbol
    SYT8provided by HGNC
    Official Full Name
    synaptotagmin 8provided by HGNC
    Primary source
    HGNC:HGNC:19264
    See related
    Ensembl:ENSG00000149043 MIM:607719; AllianceGenome:HGNC:19264
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Biased expression in skin (RPKM 28.8), urinary bladder (RPKM 7.9) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SYT8 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1831784..1837521)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1917579..1923320)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1855657..1858751)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902610 Neighboring gene ribosomal protein L36a pseudogene 39 Neighboring gene actin beta pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1844971-1845472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1854181-1854796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1854797-1855410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3063 Neighboring gene uncharacterized LOC107984299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4290 Neighboring gene troponin I2, fast skeletal type

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SYT8 represents a promising target for the detection, prediction, and treatment of peritoneal metastasis of GC.
      Title: Significance of SYT8 For the Detection, Prediction, and Treatment of Peritoneal Metastasis From Gastric Cancer.
    2. Inactivation of the insulin promoter by promoter-targeting siRNA reduces SYT8 gene expression.
      Title: Mapping of INS promoter interactions reveals its role in long-range regulation of SYT8 transcription.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434K0322

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion sensor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in acrosome reaction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium-dependent activation of synaptic vesicle fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of calcium ion-dependent exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of synaptic vesicle exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dense core granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in exocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    synaptotagmin-8
    Names
    synaptotagmin VIII
    sytVIII

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034029.2 RefSeqGene

      Range
      8208..10739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290332.2 → NP_001277261.2  synaptotagmin-8 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC051649
      UniProtKB/TrEMBL
      H0Y3G9
      Conserved Domains (1) summary
      cl14603
      Location:248 → 377
      C2; C2 domain

    2. NM_001290333.2 → NP_001277262.2  synaptotagmin-8 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site, compared to variant 1. The encoded protein (isoform 3) is shorter, compared to isoform 1.
      Source sequence(s)
      AC051649
      UniProtKB/TrEMBL
      H0Y3G9
      Related
      ENSP00000371406.3, ENST00000381978.7
      Conserved Domains (1) summary
      cl14603
      Location:247 → 376
      C2; C2 domain

    3. NM_001290334.2 → NP_001277263.2  synaptotagmin-8 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site, and an alternate upstream translation start, compared to variant 1. The encoded protein (isoform 4) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC051649
      UniProtKB/TrEMBL
      H0Y3G9
      Conserved Domains (1) summary
      cl14603
      Location:246 → 375
      C2; C2 domain

    4. NM_001394072.1 → NP_001381001.1  synaptotagmin-8 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC051649
      Consensus CDS
      CCDS91401.1
      UniProtKB/Swiss-Prot
      A6NCR4, A6NFJ4, Q8NBV8, Q9NSV9
      UniProtKB/TrEMBL
      H0Y3G9
      Related
      ENSP00000343691.3, ENST00000341958.4
      Conserved Domains (1) summary
      cl14603
      Location:233 → 362
      C2; C2 domain

    5. NM_138567.5 → NP_612634.4  synaptotagmin-8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, and an alternate upstream translation start, compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC051649
      Consensus CDS
      CCDS7726.2
      UniProtKB/TrEMBL
      A0AA75HZC2, H0Y3G9
      Related
      ENSP00000371394.3, ENST00000381968.7
      Conserved Domains (1) summary
      cl14603
      Location:247 → 376
      C2; C2 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      1831784..1837521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520455.2 → XP_011518757.2  synaptotagmin-8 isoform X1

      UniProtKB/Swiss-Prot
      A6NCR4, A6NFJ4, Q8NBV8, Q9NSV9

    2. XM_011520456.3 → XP_011518758.2  synaptotagmin-8 isoform X2

    3. XM_017018528.2 → XP_016874017.2  synaptotagmin-8 isoform X1

      UniProtKB/Swiss-Prot
      A6NCR4, A6NFJ4, Q8NBV8, Q9NSV9

    4. XM_047427845.1 → XP_047283801.1  synaptotagmin-8 isoform X3

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160004.1 Reference GRCh38.p14 PATCHES

      Range
      22281..28024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332471.1 → XP_054188446.1  synaptotagmin-8 isoform X1

      UniProtKB/Swiss-Prot
      A6NCR4, A6NFJ4, Q8NBV8, Q9NSV9

    2. XM_054332472.1 → XP_054188447.1  synaptotagmin-8 isoform X2

    3. XM_054332470.1 → XP_054188445.1  synaptotagmin-8 isoform X1

      UniProtKB/Swiss-Prot
      A6NCR4, A6NFJ4, Q8NBV8, Q9NSV9

    4. XM_054332473.1 → XP_054188448.1  synaptotagmin-8 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      1917579..1923320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370430.1 → XP_054226405.1  synaptotagmin-8 isoform X1

    2. XM_054370431.1 → XP_054226406.1  synaptotagmin-8 isoform X2

    3. XM_054370429.1 → XP_054226404.1  synaptotagmin-8 isoform X1

    4. XM_054370432.1 → XP_054226407.1  synaptotagmin-8 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBV8.5 GenPept UniProtKB/Swiss-Prot:Q8NBV8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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