PRAF2: PRA1 Domain Family Member 2
A Golgi-associated vesicle transport protein with emerging roles in cancer and neurological disorders
Gene Information Card
| Symbol | PRAF2 |
|---|---|
| Full Name | PRA1 domain family member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 11230 ncbi.nlm.nih.gov/gene/11230 |
| Ensembl ID | ENSG00000101849 |
| UniProt ID | O60831 |
| OMIM ID | 300856 |
| HGNC ID | 9331 |
| Aliases | PRA2, PRA1 domain family 2, Yip4, YIPF4 |
Description
PRAF2 (PRA1 domain family member 2) encodes a small membrane protein localized to the Golgi apparatus and endoplasmic reticulum. It is involved in vesicular transport, particularly in the recycling of proteins between the Golgi and ER. PRAF2 interacts with prenylated Rab acceptors and may modulate intracellular trafficking. Emerging evidence links PRAF2 to neuroblastoma and other cancers, as well as to synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | PRAF2 overexpression promotes tumor cell survival and chemoresistance | PMID: 21947007 |
| Colorectal cancer | Altered expression associated with poor prognosis | PMID: 25944712 |
| Intellectual disability (X-linked) | Missense variants identified in affected families | ClinVar: RCV000022654 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in functional studies |
| HEK293 (embryonic kidney) | 8.9 | Moderate expression |
| HeLa (cervical carcinoma) | 7.4 | Moderate expression |
| A549 (lung carcinoma) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon; likely loss of function |
| c.148G>A (p.Gly50Arg) | Missense | Rare | Unknown; reported in X-linked intellectual disability |
| c.316C>T (p.Arg106Trp) | Missense | Rare | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
p.Met1Thr disrupts translation initiation, likely leading to complete loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations currently documented in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • vesicle-mediated transport (GO:0016192) |
| • Golgi apparatus (GO:0005794) | • endoplasmic reticulum (GO:0005783) |
| • protein binding (GO:0005515) |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
PRAF2 is a 178-amino acid protein with a conserved PRA1 domain. It spans the Golgi membrane and interacts with Rab proteins and other trafficking factors. The protein is thought to regulate retrograde transport from the Golgi to the ER. Overexpression in neuroblastoma cells confers resistance to chemotherapy, suggesting a role in cancer cell survival. Structural studies indicate a homodimeric organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRAF2 Knockout HEK293 Cell Line | EDJ-KQ51056 | Human | 11230 | Details Get a Quote |
| PRAF2 Knockout HeLa Cell Line | EDJ-KQ55608 | Human | 11230 | Details Get a Quote |
| PRAF2 Knockout A-549 Cell Line | EDJ-KQ64106 | Human | 11230 | Details Get a Quote |
| PRAF2 Knockout HCT 116 Cell Line | EDJ-KQ72552 | Human | 11230 | Details Get a Quote |
