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SYT8 synaptotagmin 8 [ Homo sapiens (human) ]

Gene ID: 90019, updated on 11-Apr-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
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Genomic context

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Location:
11p15.5
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1831784..1837521)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1917579..1923320)
105.20220307 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
  • 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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Related articles in PubMed

  1. Significance of SYT8 For the Detection, Prediction, and Treatment of Peritoneal Metastasis From Gastric Cancer. Kanda M, et al. Ann Surg, 2018 Mar. PMID 28026832
  2. The functional significance of synaptotagmin diversity in neuroendocrine secretion. Moghadam PK, et al. Front Endocrinol (Lausanne), 2013 Sep 18. PMID 24065953, Free PMC Article
  3. Chromatin structure, epigenetic mechanisms and long-range interactions in the human insulin locus. Xu Z, et al. Diabetes Obes Metab, 2012 Oct. PMID 22928559, Free PMC Article
  4. Mapping of INS promoter interactions reveals its role in long-range regulation of SYT8 transcription. Xu Z, et al. Nat Struct Mol Biol, 2011 Mar. PMID 21336277, Free PMC Article
  5. SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear ribonucleoprotein R, interacts with ubiquitous synaptotagmin isoforms. Mizutani A, et al. J Biol Chem, 2000 Mar 31. PMID 10734137

See all (15) citations in PubMed

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)

Genotypes

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 binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in calcium ion-regulated exocytosis of neurotransmitter IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic vesicle endocytosis 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_2023_10

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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