SYT4 synaptotagmin 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SYT4provided by HGNC
Official Full Name: synaptotagmin 4provided by HGNC
Primary source: HGNC:HGNC:11512
See related: Ensembl:ENSG00000132872 MIM:600103; AllianceGenome:HGNC:11512
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HsT1192
Summary: Predicted to enable several functions, including calcium ion sensor activity; protein dimerization activity; and syntaxin binding activity. Involved in negative regulation of catecholamine secretion and positive regulation of dendrite extension. Predicted to be located in neuron projection terminus and secretory vesicle. Predicted to be active in several cellular components, including axon; glutamatergic synapse; and secretory vesicle. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 34.8), adrenal (RPKM 10.3) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 18q12.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (43267892..43277490, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (43459665..43469261, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (40847857..40857455, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Syt4 Overexpression Represses Basal Insulin Secretion and Impairs Islet Morphogenesis.
Title: Synaptotagmin 4 Regulates Pancreatic β Cell Maturation by Modulating the Ca(2+) Sensitivity of Insulin Secretion Vesicles.
Data show although no any significant differences between patient groups and lean subjects of proteins SYT4, BAG3, APOA1, and VAV3, except for VGF protein, there was a trend between the expression of these four genes and their protein levels.
Title: Age-related obesity and type 2 diabetes dysregulate neuronal associated genes and proteins in humans.
Synaptotagmin 4 negatively regulates oxytocin exocytosis, and dietary obesity is associated with increased synaptotagmin 4 binding to vesicles.
Title: Neuropeptide exocytosis involving synaptotagmin-4 and oxytocin in hypothalamic programming of body weight and energy balance.
Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.

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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
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of synaptotagmin IV (SYT4) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSC1XA022 (e-PCR)
- UniSTS:10046

RH12546 (e-PCR)
- UniSTS:46715

SGC36952 (e-PCR)
- UniSTS:9898

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	IEA Inferred from Electronic Annotation 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium-dependent activation of synaptic vesicle fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in dense core granule cytoskeletal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of calcium ion-dependent exocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of catecholamine secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of protein secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of retrograde trans-synaptic signaling by neuropeptide	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of short-term neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcium ion-dependent exocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of dendrite extension	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of dense core granule exocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glutamate secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium ion-dependent exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dopamine secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of endocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic dense core vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of trans-synaptic signaling by BDNF, modulating synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in vesicle fusion	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 Golgi membrane	NAS Non-traceable Author Statement more info	PubMed
located_in astrocyte projection	IEA Inferred from Electronic Annotation more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dense core granule membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in exocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in microvesicle	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal dense core vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal dense core vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: synaptotagmin-4

Names: synaptotagmin IV; sytIV

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.

mRNA and Protein(s)

NM_020783.4 → NP_065834.1 synaptotagmin-4

See identical proteins and their annotated locations for NP_065834.1

Status: VALIDATED

Source sequence(s)

AB037763, AI912792, BC036538, BM311221, DB483932

Consensus CDS

CCDS11922.1

UniProtKB/Swiss-Prot

B4DEU3, Q9H2B2, Q9P2K4

UniProtKB/TrEMBL

A8K539

Related

ENSP00000255224.2, ENST00000255224.8

Conserved Domains (2) summary

cd08388
Location:153 → 279

C2A_Synaptotagmin-4-11; C2A domain first repeat present in Synaptotagmins 4 and 11

cd08404
Location:288 → 423

C2B_Synaptotagmin-4; C2 domain second repeat present in Synaptotagmin 4