COPB2 - COPI coat complex subunit beta 2 Gene

Homo sapiens

Also known as OPDD; MCPH19; beta'-COP

Gene ID: 9276 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21988832	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

Coatomer_WDAD

0
200
400
600
800
906 a.a.

Protein Preferred Names

Protein Names

coatomer subunit beta'

beta'-coat protein

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03023	COPB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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