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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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COPB2
coat protein complex I subunit beta 2
Chromosome 3 Β· 3q23
NCBI Gene: 9276Ensembl: ENSG00000184432.12HGNC: HGNC:2232UniProt: P35606
227PubMed Papers
22Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
COPI vesicle coatintra-Golgi vesicle-mediated transportprotein bindingretrograde vesicle-mediated transport, Golgi to endoplasmic reticulumosteoporosis, childhood- or juvenile-onset, with developmental delaymicrocephaly 19, primary, autosomal recessiveosteoporosisneurodegenerative disease
✦AI Summary

COPB2 (coatomer protein complex I subunit beta 2) is an essential component of the COPI coatomer complex that mediates vesicular transport between the endoplasmic reticulum and Golgi apparatus 1. The protein is critical for embryonic development, as null mutations cause embryonic lethality in mice, while hypomorphic mutations lead to primary microcephaly in humans through increased neuronal apoptosis and reduced cortical layer V neurons 1. COPB2 functions as an oncogene across multiple cancer types, with upregulated expression promoting cell proliferation, invasion, and metastasis while inhibiting apoptosis 2. In colorectal cancer, COPB2 silencing induces apoptosis through JNK/c-Jun signaling pathway activation 3, while in breast cancer it regulates the PI3K/AKT pathway 4. The protein controls cell cycle progression, with silencing causing G0/G1 or S-phase arrest in colon cancer cells 5 and G2-phase arrest in osteosarcoma 6. In hepatocellular carcinoma, COPB2 promotes progression by regulating YAP1 nuclear translocation and affects cisplatin sensitivity 7. High COPB2 expression correlates with poor prognosis in multiple cancers, suggesting its potential as both a biomarker and therapeutic target 86.

Sources cited
1
COPB2 is essential for embryogenesis and hypomorphic mutations cause microcephaly through neuronal apoptosis
PMID: 29036432
2
COPB2 functions as an oncogene promoting proliferation, invasion, and metastasis across multiple cancer types
PMID: 34101128
3
COPB2 silencing induces apoptosis via JNK/c-Jun signaling pathway in colorectal cancer
PMID: 33211699
4
COPB2 regulates PI3K/AKT signaling pathway in triple-negative breast cancer
PMID: 34093748
5
COPB2 silencing causes G0/G1 or S-phase cell cycle arrest in colon cancer
PMID: 29399086
6
COPB2 silencing causes G2-phase arrest in osteosarcoma and correlates with poor prognosis
PMID: 40717795
7
COPB2 promotes hepatocellular carcinoma through YAP1 nuclear translocation regulation
PMID: 40191726
8
COPB2 is upregulated in prostate cancer and serves as potential biomarker
PMID: 27986120
Disease Associationsβ“˜22
osteoporosis, childhood- or juvenile-onset, with developmental delayOpen Targets
0.66Moderate
microcephaly 19, primary, autosomal recessiveOpen Targets
0.52Moderate
osteoporosisOpen Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
hypotonia with lactic acidemia and hyperammonemiaOpen Targets
0.47Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
idiopathic juvenile osteoporosisOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
OsteopeniaOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
Recurrent fracturesOpen Targets
0.46Moderate
autosomal recessive primary microcephalyOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.41Moderate
developmental disabilityOpen Targets
0.37Weak
Abruptio PlacentaeOpen Targets
0.25Weak
adolescent idiopathic scoliosisOpen Targets
0.14Weak
combined oxidative phosphorylation deficiencyOpen Targets
0.12Weak
neoplasmOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
Microcephaly 19, primary, autosomal recessiveUniProt
Osteoporosis, childhood- or juvenile-onset, with developmental delayUniProt
Pathogenic Variants9
NM_004766.3(COPB2):c.660_661del (p.Val222fs)Pathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay|Microcephaly 19, primary, autosomal recessive|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 222
NM_004766.3(COPB2):c.1666dup (p.His556fs)Likely pathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay
β˜…β˜†β˜†β˜†2025β†’ Residue 556
NM_004766.3(COPB2):c.181C>T (p.Arg61Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 61
NM_004766.3(COPB2):c.1401+2T>ALikely pathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay
β˜…β˜†β˜†β˜†2024
NM_004766.3(COPB2):c.1478_1480delinsCCCTTCT (p.Glu493fs)Likely pathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay
β˜…β˜†β˜†β˜†2023β†’ Residue 493
NM_004766.3(COPB2):c.1266dup (p.Ser423fs)Likely pathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay
β˜…β˜†β˜†β˜†2022β†’ Residue 423
NM_004766.3(COPB2):c.247dup (p.Val83fs)Pathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 83
NM_004766.3(COPB2):c.760C>T (p.Arg254Cys)Pathogenic
Microcephaly 19, primary, autosomal recessive
β˜†β˜†β˜†β˜†2022β†’ Residue 254
NM_004766.3(COPB2):c.1206-2A>GPathogenic
Osteoporosis, childhood- or juvenile-onset, with developmental delay
β˜†β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
NBASProtein interaction100%EPRS1Protein interaction97%KDELR1Protein interaction96%GOLPH3Protein interaction92%KDELR2Protein interaction92%TMED10Protein interaction91%
Tissue Expression6 tissues
Heart
100%
Brain
92%
Liver
86%
Lung
79%
Ovary
61%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
COPB2NBASEPRS1KDELR1GOLPH3KDELR2TMED10
PROTEIN STRUCTURE
Preparing viewer…
PDB8D41 Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.18Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.07–0.18]
RankingsWhere COPB2 stands among ~20K protein-coding genes
  • #1,778of 20,598
    Most Researched227 Β· top 10%
  • #2,917of 5,498
    Most Pathogenic Variants9
  • #330of 17,882
    Most Constrained (LOEUF)0.18 Β· top 5%
Genes detectedCOPB2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Silencing the
PMID: 34093748
Exp Ther Med Β· 2021
1.00
2
COPB2 gene silencing inhibits colorectal cancer cell proliferation and induces apoptosis via the JNK/c-Jun signaling pathway.
PMID: 33211699
PLoS One Β· 2020
0.90
3
COPB2 facilitates EDEM3-mediated mannose trimming to sustain ER homeostasis in ovarian cancer.
PMID: 40736660
Cell Oncol (Dordr) Β· 2025
0.84
4
COPB2: a transport proteinΒ with multifaceted roles in cancer development and progression.
PMID: 34101128
Clin Transl Oncol Β· 2021
0.80
5
Comprehensive analysis reveals COPB2 and RYK associated with tumor stages of larynx squamous cell carcinoma.
PMID: 35715770
BMC Cancer Β· 2022
0.76