SYTL4: Synaptotagmin-Like 4
A Rab27A effector involved in vesicle trafficking and exocytosis
Gene Information Card
| Symbol | SYTL4 |
|---|---|
| Full Name | Synaptotagmin-Like 4 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 94121 ncbi.nlm.nih.gov/gene/94121 |
| Ensembl ID | ENSG00000101974 |
| UniProt ID | Q96C24 |
| OMIM ID | 300538 |
| HGNC ID | 15590 |
| Aliases | Slp4, KIAA1312, MGC138290 |
Description
SYTL4 (synaptotagmin-like 4) is a protein-coding gene located on the X chromosome. It encodes a member of the synaptotagmin-like protein family that functions as a Rab27A effector. The protein is involved in the regulation of vesicle trafficking, particularly in the docking and fusion of secretory granules. It plays a critical role in exocytosis in various cell types, including cytotoxic T lymphocytes and platelets.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Griscelli syndrome type 2 (GS2) | Defective Rab27A-SYTL4 interaction impairs granule exocytosis in cytotoxic T cells and melanocytes, leading to immune deficiency and hypopigmentation. | ClinVar, OMIM |
| Hemophagocytic lymphohistiocytosis (HLH) | Mutations in SYTL4 or its binding partner Rab27A disrupt cytotoxic granule release, causing uncontrolled immune activation. | ClinVar, OMIM |
| Melanoma | Altered SYTL4 expression may affect exocytosis of melanosomes and immune evasion. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.3 | Medium |
| Whole blood | 8.7 | Medium |
| Lymph node | 7.9 | Medium |
| Bone marrow | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| Jurkat | 11.8 | T-cell line |
| K562 | 9.5 | Myeloid leukemia line |
| HeLa | 7.3 | Cervical cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130C>T (p.Arg44*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.497G>A (p.Arg166Gln) | Missense | <0.1% | Impaired Rab27A binding |
| c.1024_1025del (p.Leu342fs) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing granule exocytosis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rab27A-mediated granule exocytosis
• Vesicle-mediated transport
• Synaptic vesicle cycle
Protein Summary
The SYTL4 protein (synaptotagmin-like 4, also known as Slp4) is a 673-amino-acid protein that contains an N-terminal Rab27A-binding domain and two C-terminal C2 domains. It acts as a Rab27A effector, linking Rab27A-positive vesicles to the plasma membrane for docking and fusion. The protein is essential for regulated exocytosis in hematopoietic cells, including cytotoxic T lymphocytes and platelets. Defects in SYTL4 or its interaction with Rab27A lead to immune disorders such as Griscelli syndrome type 2 and hemophagocytic lymphohistiocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYTL4 Knockout HEK293 Cell Line | EDJ-KQ11292 | Human | 94121 | Details Get a Quote |
| SYTL4 Knockout A-549 Cell Line | EDJ-KQ39410 | Human | 94121 | Details Get a Quote |
| SYTL4 Knockout HCT 116 Cell Line | EDJ-KQ39411 | Human | 94121 | Details Get a Quote |
| SYTL4 Knockout HeLa Cell Line | EDJ-KQ39412 | Human | 94121 | Details Get a Quote |
