PSD2: Pleckstrin and Sec7 Domain Containing 2
A guanine nucleotide exchange factor (GEF) for ADP-ribosylation factors (ARFs) involved in vesicle trafficking and endocytosis.
Gene Information Card
| Symbol | PSD2 |
|---|---|
| Full Name | pleckstrin and Sec7 domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 84249 ncbi.nlm.nih.gov/gene/84249 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q9BQI9 |
| OMIM ID | 614308 |
| HGNC ID | 19096 |
| Aliases | KIAA0738, EFA6R, PSD-2 |
Description
PSD2 (pleckstrin and Sec7 domain containing 2) encodes a guanine nucleotide exchange factor (GEF) that specifically activates ADP-ribosylation factors (ARFs), small GTPases involved in vesicle trafficking, endocytosis, and cytoskeletal organization. The protein contains a Sec7 domain responsible for GEF activity and a pleckstrin homology (PH) domain that mediates membrane localization. PSD2 is widely expressed and plays a role in clathrin-mediated endocytosis and recycling of receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No direct evidence from ClinVar, OMIM, or COSMIC as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| K562 | 9.8 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No clinically significant variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • ARF guanyl-nucleotide exchange factor activity (GO:0005086) | • protein binding (GO:0005515) |
| • phosphatidylinositol-4 (GO:0005546) | • intracellular protein transport (GO:0006886) |
| • endocytosis (GO:0006897) | • vesicle-mediated transport (GO:0016192) |
| • regulation of ARF protein signal transduction (GO:0032012) |
Pathways
• ARF GTPase cycle
• Clathrin-mediated endocytosis
• Vesicle trafficking
Protein Summary
PSD2 is a 1009-amino acid protein containing an N-terminal Sec7 domain that catalyzes GDP-GTP exchange on ARF1, ARF5, and ARF6, and a C-terminal PH domain that binds phosphoinositides. It localizes to the plasma membrane and endosomes, regulating endocytic recycling and actin remodeling. The protein is ubiquitously expressed with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSD2 Knockout HEK293 Cell Line | EDJ-KQ10030 | Human | 84249 | Details Get a Quote |
| PSD2 Knockout HeLa Cell Line | EDJ-KQ57560 | Human | 84249 | Details Get a Quote |
| PSD2 Knockout A-549 Cell Line | EDJ-KQ66057 | Human | 84249 | Details Get a Quote |
| PSD2 Knockout HCT 116 Cell Line | EDJ-KQ74480 | Human | 84249 | Details Get a Quote |
