COPB2 Gene - Coatomer Subunit Beta 2
Essential component of the COPI vesicle coat involved in intracellular protein trafficking and Golgi homeostasis
Gene Information Card
| Symbol | COPB2 |
|---|---|
| Full Name | COPI coat complex subunit beta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 9276 ncbi.nlm.nih.gov/gene/9276 |
| Ensembl ID | ENSG00000114416 |
| UniProt ID | P35606 |
| OMIM ID | 606990 |
| HGNC ID | 2232 |
| Aliases | beta-COP, COPI beta subunit, COPB, MCOPDB |
Description
COPB2 encodes the beta-2 subunit of the coatomer protein complex I (COPI), which coats vesicles transporting proteins from the Golgi apparatus back to the endoplasmic reticulum (ER) and between Golgi cisternae. The COPI complex is essential for maintaining Golgi structure and function, and COPB2 mutations are linked to autosomal recessive microcephaly and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, postnatal progressive, with seizures and brain atrophy (MCOPDB) | Loss-of-function mutations impair COPI-mediated retrograde transport, disrupting Golgi homeostasis and neuronal development | OMIM #617800; PMID: 28556411 |
| Colorectal cancer | COPB2 overexpression promotes cell proliferation and migration via Wnt/β-catenin signaling | PMID: 31695177 |
| Breast cancer | COPB2 upregulation correlates with poor prognosis and enhanced tumor growth | PMID: 30561436 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 18.5 | High |
| Pancreas | 15.2 | High |
| Brain | 10.1 | Medium |
| Heart | 8.7 | Medium |
| Lung | 7.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| HepG2 | 19.8 | Hepatocellular carcinoma |
| MCF7 | 14.6 | Breast cancer cell line |
| A549 | 12.1 | Lung adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2386C>T (p.Arg796*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1720G>A (p.Gly574Arg) | Missense | Rare | Impaired COPI assembly; microcephaly |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; microcephaly |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations cause COPB2 loss of function, leading to microcephaly with seizures.
Gain of Function (GOF)
Not reported in COPB2.
Dominant Negative (DN)
Not reported in COPB2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• COPI-dependent Golgi-to-ER retrograde traffic (Reactome R-HSA-6811434)
• Membrane trafficking (Reactome R-HSA-199991)
• Vesicle-mediated transport (Reactome R-HSA-5653656)
Protein Summary
COPB2 is a 906-amino-acid protein (molecular weight ~102 kDa) that forms part of the heptameric COPI coatomer complex. It contains an N-terminal WD40 repeat domain and a C-terminal domain that interacts with other coatomer subunits. The protein is ubiquitously expressed and localizes to the Golgi apparatus and ER-Golgi intermediate compartment.
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|---|---|---|---|---|
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