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    SYT8 synaptotagmin 8 [ Homo sapiens (human) ]

    Gene ID: 90019, updated on 27-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    synaptotagmin-8
    Names
    synaptotagmin VIII
    sytVIII

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001290332.2NP_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:248377
      C2; C2 domain
    2. NM_001290333.2NP_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:247376
      C2; C2 domain
    3. NM_001290334.2NP_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:246375
      C2; C2 domain
    4. NM_001394072.1NP_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:233362
      C2; C2 domain
    5. NM_138567.5NP_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:247376
      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_011520455.2XP_011518757.2  synaptotagmin-8 isoform X1

      UniProtKB/Swiss-Prot
      A6NCR4, A6NFJ4, Q8NBV8, Q9NSV9
      UniProtKB/TrEMBL
      H0Y3G9
    2. XM_011520456.3XP_011518758.2  synaptotagmin-8 isoform X2

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

      UniProtKB/Swiss-Prot
      A6NCR4, A6NFJ4, Q8NBV8, Q9NSV9
      UniProtKB/TrEMBL
      H0Y3G9
    4. XM_047427845.1XP_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_054332471.1XP_054188446.1  synaptotagmin-8 isoform X1

      UniProtKB/Swiss-Prot
      A6NCR4, A6NFJ4, Q8NBV8, Q9NSV9
      UniProtKB/TrEMBL
      H0Y3G9
    2. XM_054332472.1XP_054188447.1  synaptotagmin-8 isoform X2

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

      UniProtKB/Swiss-Prot
      A6NCR4, A6NFJ4, Q8NBV8, Q9NSV9
      UniProtKB/TrEMBL
      H0Y3G9
    4. XM_054332473.1XP_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_054370430.1XP_054226405.1  synaptotagmin-8 isoform X1

      UniProtKB/TrEMBL
      H0Y3G9
    2. XM_054370431.1XP_054226406.1  synaptotagmin-8 isoform X2

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

      UniProtKB/TrEMBL
      H0Y3G9
    4. XM_054370432.1XP_054226407.1  synaptotagmin-8 isoform X3