SYT16: Synaptotagmin 16

A member of the synaptotagmin family involved in vesicle trafficking and membrane fusion.

Gene Information Card

Symbol SYT16
Full Name Synaptotagmin 16
Gene Type Protein coding
Chromosomal Location 14q23.3
NCBI Gene ID 83851 ncbi.nlm.nih.gov/gene/83851
Ensembl ID ENSG00000100823
UniProt ID Q5VUJ9
OMIM ID 614784
HGNC ID 26239
Aliases SYT16A, SYT16B, FLJ20073

Description

SYT16 (synaptotagmin 16) is a protein-coding gene belonging to the synaptotagmin family, which is characterized by an N-terminal transmembrane region and two C-terminal C2 domains (C2A and C2B). Synaptotagmins are known to function as calcium sensors in vesicle trafficking and exocytosis. SYT16 is expressed in various tissues and has been implicated in membrane fusion processes, particularly in the brain and endocrine tissues. Its precise physiological role is still under investigation, but it may contribute to neurotransmitter release and hormone secretion.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Altered expression of SYT16 may influence tumor progression through dysregulation of vesicle trafficking and cell signaling. COSMIC database reports mutations in breast cancer samples.
Colorectal cancer Somatic mutations in SYT16 have been identified in colorectal tumors, potentially affecting membrane fusion dynamics. COSMIC database lists mutations in colorectal cancer.
Lung cancer SYT16 expression changes observed in lung adenocarcinoma, suggesting a role in cancer biology. NCBI Gene expression studies.

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Testis 8.3 Low
Thyroid 6.1 Low
Adrenal gland 5.4 Low
Lung 3.2 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 10.1 Embryonic kidney cells; moderate expression
SH-SY5Y 15.3 Neuroblastoma cell line; higher expression
MCF7 4.5 Breast cancer cell line; low expression
A549 3.8 Lung carcinoma cell line; low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1123G>A (p.Gly375Arg) Missense <0.1% Unknown; reported in COSMIC
c.1567C>T (p.Arg523Trp) Missense <0.1% Unknown; reported in COSMIC
c.2014_2015insA Frameshift <0.1% Loss of function predicted
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations are predicted to cause loss of function by truncating the protein.

Gain of Function (GOF)

No evidence of gain-of-function mutations reported.

Dominant Negative (DN)

No evidence of dominant-negative effects reported.

Pathways

Synaptic vesicle cycle (KEGG: hsa04721)
Calcium signaling pathway (KEGG: hsa04020)

Protein Summary

Synaptotagmin 16 is a 596-amino acid protein with a molecular weight of approximately 67 kDa. It contains a single transmembrane domain and two C2 domains (C2A and C2B) that bind calcium and phospholipids. The protein is localized to synaptic vesicle membranes and is involved in calcium-regulated exocytosis. Structural studies suggest that the C2 domains mediate interactions with SNARE proteins and membranes, facilitating vesicle fusion. SYT16 is expressed in the brain and other tissues, where it may regulate neurotransmitter and hormone release.

Related Products

Product name Cat.No. Species Gene ID
SYT16 Knockout HEK293 Cell Line EDJ-KQ9912 Human 83851 Details Get a Quote
SYT16 Knockout HeLa Cell Line EDJ-KQ57483 Human 83851 Details Get a Quote
SYT16 Knockout A-549 Cell Line EDJ-KQ65986 Human 83851 Details Get a Quote
SYT16 Knockout HCT 116 Cell Line EDJ-KQ74409 Human 83851 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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