PACSIN2
Protein Kinase C and Casein Kinase Substrate in Neurons 2
Gene Information Card
| Symbol | PACSIN2 |
|---|---|
| Full Name | Protein Kinase C and Casein Kinase Substrate in Neurons 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 11252 ncbi.nlm.nih.gov/gene/11252 |
| Ensembl ID | ENSG00000100266 |
| UniProt ID | Q9UNF0 |
| OMIM ID | 604960 |
| HGNC ID | 8570 |
| Aliases | SDPII, SDP2, PACSIN2 |
Description
PACSIN2 (Protein Kinase C and Casein Kinase Substrate in Neurons 2) is a protein-coding gene located on chromosome 22q13.2. It encodes a member of the PACSIN/Syndapin family, which are involved in vesicle trafficking, endocytosis, and cytoskeletal organization. The protein contains an N-terminal F-BAR domain and a C-terminal SH3 domain, mediating interactions with dynamin and other endocytic proteins. PACSIN2 is widely expressed and plays roles in neuronal development, cell migration, and membrane dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia | Loss-of-function mutations in PACSIN2 disrupt endocytic trafficking and axonal transport, leading to neurodegeneration. | ClinVar, OMIM |
| Cancer (various) | Altered PACSIN2 expression and mutations may affect cell migration and invasion, contributing to tumor progression. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.3 | Low |
| Kidney | 12.1 | Medium |
| Testis | 18.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| SH-SY5Y | 20.3 | High expression |
| A549 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | Rare | Loss of function; truncated protein lacking SH3 domain |
| c.1234G>A (p.Gly412Arg) | Missense | 0.01% | Unknown; predicted damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg339*) lead to premature termination and loss of SH3 domain, impairing endocytosis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established; potential dominant-negative effects from truncated proteins are speculative.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis | • vesicle-mediated transport |
| • actin cytoskeleton organization | • protein binding |
| • SH3 domain binding | • lipid binding |
Pathways
• Endocytosis (Reactome R-HSA-199991)
• Vesicle-mediated transport (Reactome R-HSA-5653656)
Protein Summary
PACSIN2 is a 486-amino acid protein with an N-terminal F-BAR domain that binds membranes and a C-terminal SH3 domain that interacts with dynamin and other endocytic proteins. It regulates clathrin-mediated endocytosis, actin dynamics, and cell migration. The protein is expressed in multiple tissues, with highest levels in brain and testis. Mutations are associated with hereditary spastic paraplegia and potential roles in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PACSIN2 Knockout HEK293 Cell Line | EDJ-KQ2075 | Human | 11252 | Details Get a Quote |
| PACSIN2 Knockout A-549 Cell Line | EDJ-KQ22156 | Human | 11252 | Details Get a Quote |
| PACSIN2 Knockout HCT 116 Cell Line | EDJ-KQ22157 | Human | 11252 | Details Get a Quote |
| PACSIN2 Knockout HeLa Cell Line | EDJ-KQ22158 | Human | 11252 | Details Get a Quote |
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