PACS2 Gene
Phosphofurin Acidic Cluster Sorting Protein 2
Gene Information Card
| Symbol | PACS2 |
|---|---|
| Full Name | Phosphofurin Acidic Cluster Sorting Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 23241 ncbi.nlm.nih.gov/gene/23241 |
| Ensembl ID | ENSG00000100883 |
| UniProt ID | Q86VP3 |
| OMIM ID | 610423 |
| HGNC ID | 23794 |
| Aliases | KIAA0602, PACS-2 |
Description
PACS2 encodes a member of the phosphofurin acidic cluster sorting protein family. This protein functions as a membrane traffic regulator, controlling the subcellular localization of proteins by recognizing acidic cluster sorting motifs. It is involved in endoplasmic reticulum-mitochondria communication, apoptosis, and mitochondrial dynamics. Mutations in PACS2 are associated with developmental and epileptic encephalopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 66 (DEE66) | Missense mutations (e.g., p.Glu209Lys) disrupt ER-mitochondria tethering and calcium homeostasis, leading to neuronal dysfunction. | ClinVar, OMIM |
| Epileptic encephalopathy, early infantile | Gain-of-function mutations impair mitochondrial fission and cause synaptic abnormalities. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 8.5 | Low |
| Kidney | 10.1 | Medium |
| Testis | 14.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.3 | High expression |
| HEK293 (embryonic kidney) | 12.0 | Moderate expression |
| HeLa (cervical carcinoma) | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625G>A (p.Glu209Lys) | Missense | Pathogenic | Alters protein conformation, disrupts ER-mitochondria contact sites |
| c.631C>T (p.Arg211Trp) | Missense | Likely pathogenic | Impairs mitochondrial localization and calcium buffering |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; most reported mutations are missense with gain-of-function or dominant-negative effects.
Gain of Function (GOF)
p.Glu209Lys leads to increased ER-mitochondria tethering and altered calcium flux.
Dominant Negative (DN)
p.Arg211Trp may interfere with wild-type PACS2 function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • endocytosis (GO:0006897) |
| • mitochondrion organization (GO:0007005) | • cellular response to insulin stimulus (GO:0032869) |
| • protein N-terminus binding (GO:0047485) |
Pathways
• ER-mitochondria contact site regulation
• Mitochondrial dynamics and apoptosis
Protein Summary
PACS2 is a 889-amino acid protein containing a furin-binding domain and an acidic cluster-binding region. It localizes to the endoplasmic reticulum and mitochondria, where it facilitates tethering and calcium transfer. The protein also modulates mitochondrial fission and apoptosis through interactions with BAX and other partners.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PACS2 Knockout HEK293 Cell Line | EDJ-KQ7908 | Human | 23241 | Details Get a Quote |
| PACS2 Knockout HeLa Cell Line | EDJ-KQ32200 | Human | 23241 | Details Get a Quote |
| PACS2 Knockout A-549 Cell Line | EDJ-KQ33528 | Human | 23241 | Details Get a Quote |
| PACS2 Knockout HCT 116 Cell Line | EDJ-KQ33529 | Human | 23241 | Details Get a Quote |
