STX16: Syntaxin 16 Gene
Key regulator of vesicle trafficking and implicated in pseudohypoparathyroidism
Gene Information Card
| Symbol | STX16 |
|---|---|
| Full Name | Syntaxin 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.32 |
| NCBI Gene ID | 8675 ncbi.nlm.nih.gov/gene/8675 |
| Ensembl ID | ENSG00000124222 |
| UniProt ID | O14662 |
| OMIM ID | 603666 |
| HGNC ID | 11431 |
| Aliases | STX16, STX16A, STX16B, SYN16 |
Description
STX16 (Syntaxin 16) encodes a member of the syntaxin family of SNARE proteins, which mediate vesicle docking and fusion with target membranes. The protein is localized to the Golgi apparatus and is involved in intra-Golgi transport and endosome-to-Golgi trafficking. Mutations in STX16 are associated with pseudohypoparathyroidism type Ib (PHP1B), a disorder characterized by resistance to parathyroid hormone and other Gsα-coupled hormones.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pseudohypoparathyroidism type Ib (PHP1B) | Loss of STX16 function disrupts GNAS imprinting regulation, leading to reduced Gsα expression in specific tissues. | ClinVar, OMIM |
| Pseudohypoparathyroidism type Ic (PHP1C) | Similar mechanism as PHP1B; STX16 deletions affect GNAS imprinting control region. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Liver | 8.1 | Low |
| Heart | 7.4 | Low |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| K562 | 9.8 | Leukemia cell line |
| HepG2 | 8.2 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| Deletion of STX16 exons 4-6 | Deletion | Rare | Disrupts GNAS imprinting, causes PHP1B |
Mutation functional classification
Loss of Function (LOF)
STX16 loss-of-function mutations impair Golgi trafficking and disrupt GNAS imprinting, leading to PHP1B.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for STX16.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • vesicle docking involved in exocytosis (GO:0006904) |
| • protein transport (GO:0015031) | • vesicle-mediated transport (GO:0016192) |
| • SNARE complex (GO:0031201) | • vesicle docking (GO:0048278) |
| • Golgi apparatus (GO:0005794) |
Pathways
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Endocytosis (KEGG: hsa04144)
• Golgi-to-ER retrograde transport (Reactome: R-HSA-6811442)
Protein Summary
Syntaxin-16 is a 307-amino acid protein (UniProt O14662) that belongs to the syntaxin family. It contains a C-terminal transmembrane domain and a SNARE domain that mediates interactions with other SNARE proteins. It localizes to the Golgi apparatus and is essential for vesicle docking and fusion, particularly in intra-Golgi transport and endosome-to-Golgi trafficking. The protein is ubiquitously expressed with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STX16 Knockout HEK293 Cell Line | EDJ-KQ3682 | Human | 8675 | Details Get a Quote |
| STX16 Knockout A-549 Cell Line | EDJ-KQ25671 | Human | 8675 | Details Get a Quote |
| STX16 Knockout HCT 116 Cell Line | EDJ-KQ25672 | Human | 8675 | Details Get a Quote |
| STX16 Knockout HeLa Cell Line | EDJ-KQ25673 | Human | 8675 | Details Get a Quote |
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