ERGIC2
ERGIC and Golgi 2
Gene Information Card
| Symbol | ERGIC2 |
|---|---|
| Full Name | ERGIC and Golgi 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p11.22 |
| NCBI Gene ID | 51290 ncbi.nlm.nih.gov/gene/51290 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q9H6X6 |
| OMIM ID | 617896 |
| HGNC ID | 29319 |
| Aliases | ERGIC2, ERGIC-2, ERGIC2_HUMAN, PTX1, CGI-99, dJ68L24.1 |
Description
ERGIC2 (ERGIC and Golgi 2) is a protein-coding gene located on chromosome 12p11.22. The encoded protein is involved in the trafficking of proteins between the endoplasmic reticulum (ER) and the Golgi apparatus, specifically within the ER-Golgi intermediate compartment (ERGIC). It plays a role in maintaining the structure and function of the ERGIC and Golgi complex. The gene is widely expressed in various tissues and is associated with certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect protein trafficking and cellular signaling | COSMIC database reports somatic mutations in multiple cancer types |
| Developmental disorders | Potential role in ER-Golgi transport affecting cellular homeostasis | Limited evidence from rare variant studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Liver | 8.5 | Medium |
| Heart | 7.1 | Medium |
| Kidney | 6.8 | Low |
| Lung | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | High expression |
| HeLa | 9.8 | Medium expression |
| HepG2 | 8.1 | Medium expression |
| A549 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | 0.01% | Unknown functional impact |
| c.456G>A (p.Trp152*) | Nonsense | 0.001% | Predicted loss of function |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | 0.002% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • protein transport | • ER to Golgi vesicle-mediated transport |
| • Golgi organization | • endoplasmic reticulum-Golgi intermediate compartment |
Pathways
• ER to Golgi transport
• COPII vesicle coat
• COPI vesicle coat
Protein Summary
The ERGIC2 protein is a 377-amino acid protein localized to the ER-Golgi intermediate compartment. It contains a coiled-coil domain and is involved in vesicle trafficking. The protein interacts with other ERGIC components and is essential for proper Golgi morphology and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERGIC2 Knockout HEK293 Cell Line | EDJ-KQ10307 | Human | 51290 | Details Get a Quote |
| ERGIC2 Knockout A-549 Cell Line | EDJ-KQ38893 | Human | 51290 | Details Get a Quote |
| ERGIC2 Knockout HCT 116 Cell Line | EDJ-KQ38895 | Human | 51290 | Details Get a Quote |
| ERGIC2 Knockout HeLa Cell Line | EDJ-KQ38896 | Human | 51290 | Details Get a Quote |
