GET4 Gene - Golgi to ER Traffic Protein 4
Essential component of the TRC40 pathway for tail-anchored protein insertion
Gene Information Card
| Symbol | GET4 |
|---|---|
| Full Name | Golgi to ER traffic protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 51608 ncbi.nlm.nih.gov/gene/51608 |
| Ensembl ID | ENSG00000106331 |
| UniProt ID | Q7L5D6 |
| OMIM ID | 612009 |
| HGNC ID | 24365 |
| Aliases | TRC35, CGI-20, HSPC332 |
Description
GET4 encodes a component of the TRC40 pathway, which is responsible for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum membrane. The protein forms a complex with GET5 and UBL4A that facilitates the transfer of TA proteins from SGTA to TRC40. GET4 is ubiquitously expressed and plays a critical role in maintaining cellular protein homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Heart | 7.2 | Medium |
| Liver | 6.8 | Medium |
| Kidney | 9.1 | Medium |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | High expression |
| HeLa | 8.9 | Medium expression |
| K562 | 7.4 | Medium expression |
| HepG2 | 6.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • Golgi apparatus (GO:0005794) |
| • identical protein binding (GO:0042802) | • tail-anchored membrane protein insertion into ER membrane (GO:0071816) |
| • chaperone-mediated protein transport (GO:0072321) |
Pathways
• Tail-anchored protein insertion (GET pathway)
• TRC40-dependent protein targeting
Protein Summary
GET4 (Golgi to ER traffic protein 4) is a 35 kDa protein that localizes to the cytosol and is part of the GET complex. It acts as a scaffold linking SGTA to the GET5-UBL4A heterodimer, enabling efficient transfer of TA proteins to TRC40. The protein contains a conserved domain of unknown function (DUF1778) and is essential for proper targeting of TA proteins to the ER membrane.
Related Services
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|---|---|---|---|---|
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