COPB2 - COPI coat complex subunit beta 2 Gene

Also Known as OPDD; MCPH19; beta'-COP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9276

About COPB2

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:139,357,406-139,389,680 (from NCBI)

This gene has 18 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 30.4), prostate (RPKM 28.2) and 25 other tissues.

Summary

The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]

COPB2 Products (2)

mRNA Protein Name
NM_001410834.1 NP_001397763.1 coatomer subunit beta' isoform 2
NM_004766.3 NP_004757.1 coatomer subunit beta' isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21988832 GOA
Biological Process GO Annotation Evidence References Source
involved in intra-Golgi vesicle-mediated transport IDA
IDA: Inferred from direct assay
8335000 GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
IMP: Inferred from mutant phenotype
34450031 GOA
Cellular Component GO Annotation Evidence References Source
part of COPI vesicle coat IDA
IDA: Inferred from direct assay
8335000 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COPB2 Protein Structure

WD40

WD40: WD domain, G-beta repeat (7 - 43)

WD40

WD40: WD domain, G-beta repeat (91 - 127)

WD40

WD40: WD domain, G-beta repeat (132 - 170)

WD40

WD40: WD domain, G-beta repeat (178 - 215)

WD40

WD40: WD domain, G-beta repeat (220 - 257)

Coatomer_WDAD

Coatomer_WDAD: Coatomer WD associated region (319 - 762)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 906 a.a.
Protein Preferred Names Protein Names

coatomer subunit beta'

  • beta'-coat protein

COPB2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
COPB2 P35606 NFKB1 Homo sapiens P19838
Y2H
21988832
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Microcephaly 19, Primary, Autosomal Recessive

  • MCPH19

  • Primary Autosomal Recessive Microcephaly 19

  • Microcephaly, Type 19, Primary, Autosomal Recessive
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay

  • OPDD
Primary Autosomal Recessive Microcephaly

  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly
Cortical Blindness

  • Blindness, Cortical
Parainfluenza Virus Type 3

  • Human Parainfluenza Virus Type 3

  • Piv3
Microcephaly 18, Primary, Autosomal Dominant

  • MCPH18

  • Primary Autosomal Dominant Microcephaly 18
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Geroderma Osteodysplasticum

  • Gerodermia Osteodysplastica

  • Geroderma Osteodysplastica

  • GO

  • Walt Disney Dwarfism

  • Type Of Gerodermia Osteodysplastica
Primary Microcephaly

  • True Microcephaly

  • Microcephaly, Primary
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03023 COPB2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus COPB2 VGNC VGNC:27594
Felis catus COPB2 VGNC VGNC:102680
Canis familiaris COPB2 VGNC VGNC:39505
Mus musculus COPB2 MGD MGI:1354962
Macaca mulatta COPB2 VGNC VGNC:71313
Rattus norvegicus COPB2 RGD RGD:628746
Others COPB2 NCBI