SCIN Gene - Schindler Disease, SCIN Protein
Comprehensive genomic and proteomic analysis of the SCIN gene encoding scinderin, an actin-binding protein involved in cytoskeletal dynamics and associated with Schindler disease.
Gene Information Card
| Symbol | SCIN |
|---|---|
| Full Name | scinderin |
| Gene Type | protein-coding |
| Chromosomal Location | 7p21.3 |
| NCBI Gene ID | 85477 ncbi.nlm.nih.gov/gene/85477 |
| Ensembl ID | ENSG00000136156 |
| UniProt ID | Q9Y6U3 |
| OMIM ID | 604857 |
| HGNC ID | 10573 |
| Aliases | KIAA1909, FLJ22662, MGC138290 |
Description
The SCIN gene encodes scinderin, a calcium-dependent actin-binding protein that severs actin filaments and caps their barbed ends, regulating cytoskeletal reorganization in various cell types. It is involved in exocytosis, cell motility, and membrane dynamics. Mutations in SCIN are associated with Schindler disease (type III), a rare autosomal recessive disorder characterized by developmental delay, seizures, and neurological regression due to impaired actin dynamics in neurons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schindler disease type III | Loss-of-function mutations in SCIN impair actin filament severing and capping, disrupting neuronal cytoskeletal dynamics and leading to neurodegeneration. | ClinVar, OMIM #604857 |
| Neurodevelopmental disorder with regression | Biallelic SCIN variants cause abnormal actin remodeling in neurons, resulting in synaptic dysfunction and progressive neurological decline. | ClinVar, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 6.1 | Low |
| Testis | 4.7 | Low |
| Kidney | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model, high expression |
| HeLa (cervical carcinoma) | 9.8 | Moderate expression |
| A549 (lung carcinoma) | 7.4 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Ter) | Nonsense | Rare | Loss of function; truncation of scinderin protein |
| c.1523G>A (p.Arg508Gln) | Missense | Rare | Likely loss of function; disrupts actin-binding domain |
| c.1975_1976del (p.Leu659ValfsTer3) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, missense) in SCIN cause Schindler disease type III by impairing actin filament severing and capping, leading to cytoskeletal dysfunction in neurons.
Gain of Function (GOF)
No gain-of-function mutations reported for SCIN.
Dominant Negative (DN)
No dominant-negative mutations reported for SCIN.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament severing |
| • actin filament capping | • calcium ion binding |
| • cytoskeleton organization | • exocytosis |
| • regulation of cell shape |
Pathways
• Actin cytoskeleton regulation
• Calcium signaling pathway
Protein Summary
Scinderin is a 715-amino acid calcium-dependent actin-binding protein that severs actin filaments and caps their barbed ends, regulating cytoskeletal dynamics. It is highly expressed in brain and plays a role in exocytosis, cell motility, and neuronal development. Loss-of-function mutations cause Schindler disease type III.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCIN Knockout HEK293 Cell Line | EDJ-KQ10378 | Human | 85477 | Details Get a Quote |
| SCIN Knockout HeLa Cell Line | EDJ-KQ57724 | Human | 85477 | Details Get a Quote |
| SCIN Knockout A-549 Cell Line | EDJ-KQ66222 | Human | 85477 | Details Get a Quote |
| SCIN Knockout HCT 116 Cell Line | EDJ-KQ74644 | Human | 85477 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
