FSTL4 (Follistatin Like 4)
A secreted glycoprotein involved in neurodevelopment and potential biomarker for neurological disorders
Gene Information Card
| Symbol | FSTL4 |
|---|---|
| Full Name | Follistatin Like 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 201620 ncbi.nlm.nih.gov/gene/201620 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q6MZW2 |
| OMIM ID | 616521 |
| HGNC ID | 26490 |
| Aliases | C5orf13, FLJ90652, MGC34646 |
Description
FSTL4 (Follistatin Like 4) is a protein-coding gene that encodes a secreted glycoprotein belonging to the follistatin family. The protein contains a follistatin-like domain and is involved in cell signaling, neurodevelopment, and modulation of TGF-beta superfamily pathways. FSTL4 is expressed in various tissues, with highest levels in the brain and testis. It has been implicated in neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered FSTL4 expression may disrupt TGF-beta signaling, affecting neuronal migration and synapse formation | ClinVar: pathogenic variants reported in patients with intellectual disability and autism spectrum disorder |
| Schizophrenia | Differential expression of FSTL4 in brain regions associated with synaptic plasticity | NCBI Gene: expression QTL studies |
| Glioblastoma | Upregulation of FSTL4 in tumor tissues may promote invasiveness via modulation of extracellular matrix | COSMIC: somatic mutations and copy number alterations in glioblastoma samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Heart | 3.2 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U87MG (glioblastoma) | 10.8 | Medium expression |
| HEK293 (embryonic kidney) | 6.4 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function; associated with neurodevelopmental delay |
| c.782G>A (p.Arg261His) | Missense | 0.02% | Unknown significance; reported in ClinVar |
| c.1234_1235insA (p.Thr412Asnfs*3) | Frameshift | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein, resulting in loss of secreted glycoprotein function.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • protein binding |
| • heparin binding | • negative regulation of BMP signaling pathway |
| • cell differentiation |
Pathways
• TGF-beta signaling pathway
• BMP signaling pathway
• Follistatin-mediated regulation of activin signaling
Protein Summary
FSTL4 is a secreted glycoprotein of approximately 45 kDa that contains a follistatin-like domain. It is involved in modulating TGF-beta superfamily signaling, particularly BMP and activin pathways. The protein is expressed in neural tissues and plays a role in neurodevelopment, cell adhesion, and extracellular matrix remodeling. Post-translational modifications include N-glycosylation and disulfide bond formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FSTL4 Knockout HEK293 Cell Line | EDJ-KQ7830 | Human | 23105 | Details Get a Quote |
| FSTL4 Knockout HeLa Cell Line | EDJ-KQ32043 | Human | 23105 | Details Get a Quote |
| FSTL4 Knockout A-549 Cell Line | EDJ-KQ64185 | Human | 23105 | Details Get a Quote |
| FSTL4 Knockout HCT 116 Cell Line | EDJ-KQ72628 | Human | 23105 | Details Get a Quote |
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