FAF2 Gene - Fas Associated Factor Family Member 2
Comprehensive genomic and proteomic analysis of FAF2, a ubiquitin-binding protein involved in endoplasmic reticulum-associated degradation (ERAD) and cellular stress responses.
Gene Information Card
| Symbol | FAF2 |
|---|---|
| Full Name | Fas Associated Factor Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 23197 ncbi.nlm.nih.gov/gene/23197 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | Q96CS3 |
| OMIM ID | 604598 |
| HGNC ID | 3588 |
| Aliases | UBXD8, UBXN3B, hFLR2 |
Description
FAF2 (Fas Associated Factor Family Member 2) encodes a ubiquitin-binding protein that contains a UBX domain and is a component of the p97/VCP complex. It functions in endoplasmic reticulum-associated degradation (ERAD) by recruiting ubiquitinated substrates to the p97/VCP ATPase for extraction from the ER membrane and subsequent proteasomal degradation. FAF2 also plays roles in lipid droplet formation, autophagy, and regulation of apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | FAF2 overexpression promotes tumor growth via ERAD modulation | COSMIC; PMID: 25605248 |
| Neurodegenerative disorders (e.g., ALS) | Altered ERAD due to FAF2 mutations may contribute to protein aggregation | ClinVar; PMID: 28251916 |
| Lipodystrophy | FAF2 deficiency disrupts lipid droplet homeostasis | OMIM #604598; PMID: 24068945 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 9.8 | Medium |
| Brain (cortex) | 7.2 | Low |
| Kidney | 6.5 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 14.1 | High expression |
| SH-SY5Y (neuroblastoma) | 8.3 | Moderate expression |
| HEK293 (embryonic kidney) | 6.7 | Low expression |
| MCF7 (breast cancer) | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% (gnomAD) | Potential loss of UBX domain function |
| c.457_459del (p.Lys153del) | In-frame deletion | <0.001% | Altered p97 binding |
| c.782G>A (p.Arg261His) | Missense | 0.002% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the UBX domain (e.g., Thr34Met) impair p97/VCP binding, reducing ERAD efficiency.
Gain of Function (GOF)
Not reported in FAF2.
Dominant Negative (DN)
Not reported in FAF2.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
| • identical protein binding (GO:0042802) | • ubiquitin binding (GO:0043130) |
| • endoplasmic reticulum (GO:0005783) | • cytosol (GO:0005829) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD) pathway
• p97/VCP-mediated protein degradation
• Lipid droplet biogenesis
Protein Summary
FAF2 (also known as UBXD8) is a 445-amino acid protein containing an N-terminal UBX domain that mediates interaction with the AAA ATPase p97/VCP. It localizes to the endoplasmic reticulum membrane and acts as an adaptor that delivers ubiquitinated substrates to p97 for extraction and proteasomal degradation. FAF2 also regulates lipid droplet formation by interacting with adipose triglyceride lipase (ATGL).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAF2 Knockout HEK293 Cell Line | EDJ-KQ3590 | Human | 23197 | Details Get a Quote |
| FAF2 Knockout A-549 Cell Line | EDJ-KQ25493 | Human | 23197 | Details Get a Quote |
| FAF2 Knockout HCT 116 Cell Line | EDJ-KQ25494 | Human | 23197 | Details Get a Quote |
| FAF2 Knockout HeLa Cell Line | EDJ-KQ25495 | Human | 23197 | Details Get a Quote |
