SPIRE2: Spire-Type Actin Nucleation Factor 2
Key regulator of actin cytoskeleton dynamics and intracellular transport
Gene Information Card
| Symbol | SPIRE2 |
|---|---|
| Full Name | spire-type actin nucleation factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 84501 ncbi.nlm.nih.gov/gene/84501 |
| Ensembl ID | ENSG00000140945 |
| UniProt ID | Q8TF74 |
| OMIM ID | 609993 |
| HGNC ID | 23823 |
| Aliases | Spire2, KIAA1832 |
Description
SPIRE2 encodes a member of the spire family of actin nucleation factors. The protein nucleates actin filaments and regulates cytoskeletal dynamics, playing a role in vesicle transport, cell migration, and organelle positioning. SPIRE2 interacts with formin proteins to coordinate actin assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered SPIRE2 expression may affect cell migration and invasion via actin remodeling | PMID: 25636800 |
| Ovarian cancer | SPIRE2 overexpression linked to poor prognosis and metastatic potential | PMID: 29367642 |
| Developmental disorders | Rare variants in SPIRE2 associated with neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Ovary | 8.3 | Low |
| Breast | 6.7 | Low |
| Testis | 15.2 | Medium |
| Lung | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 9.8 | Moderate expression |
| HeLa (cervical cancer) | 7.2 | Low expression |
| A549 (lung cancer) | 3.5 | Very low expression |
| K562 (leukemia) | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Unknown functional effect |
| c.567delA (p.Lys189fs) | Frameshift | Rare | Loss of function |
| c.890G>A (p.Arg297Gln) | Missense | 0.005% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, impairing actin nucleation activity.
Gain of Function (GOF)
Not reported for SPIRE2.
Dominant Negative (DN)
Not reported for SPIRE2.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • plasma membrane (GO:0005886) |
| • actin filament polymerization (GO:0030041) | • regulation of actin filament polymerization (GO:0030833) |
| • actin cytoskeleton (GO:0015629) |
Pathways
• Actin nucleation by WH2 domain-containing proteins
• Rho GTPase signaling
• Regulation of actin dynamics for phagocytosis
Protein Summary
SPIRE2 is a 730-amino acid protein containing a KIND domain and four WH2 domains. It nucleates actin filaments by binding actin monomers via WH2 domains and promotes filament elongation. SPIRE2 localizes to the cytoplasm and membrane, and interacts with formins such as FMN2 to coordinate actin assembly during vesicle trafficking and cell polarization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPIRE2 Knockout HEK293 Cell Line | EDJ-KQ10100 | Human | 84501 | Details Get a Quote |
| SPIRE2 Knockout A-549 Cell Line | EDJ-KQ35947 | Human | 84501 | Details Get a Quote |
| SPIRE2 Knockout HCT 116 Cell Line | EDJ-KQ37180 | Human | 84501 | Details Get a Quote |
| SPIRE2 Knockout HeLa Cell Line | EDJ-KQ37181 | Human | 84501 | Details Get a Quote |
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