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] See more...

Aliases for COPB2 Gene

Aliases for COPB2 Gene

  • COPI Coat Complex Subunit Beta 2 2 3
  • Coatomer Protein Complex, Subunit Beta 2 (Beta Prime) 2 3
  • Coatomer Protein Complex Subunit Beta Prime 2 3
  • Coatomer Protein Complex Subunit Beta 2 3 5
  • Coatomer Subunit Beta' 3 4
  • Beta'-Coat Protein 3 4
  • Beta'-COP 3 4
  • P102 3 4
  • Coatomer Protein Complex Subunit Beta 2 (Beta Prime) 2
  • Coatomer Binding Complex, Beta Prime Subunit 3
  • Betaprime-COP 3
  • MCPH19 3

External Ids for COPB2 Gene

Previous GeneCards Identifiers for COPB2 Gene

  • GC03U990100
  • GC03M140357
  • GC03M140397
  • GC03M140559
  • GC03M139076
  • GC03M136451

Summaries for COPB2 Gene

Entrez Gene Summary for COPB2 Gene

  • 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]

GeneCards Summary for COPB2 Gene

COPB2 (COPI Coat Complex Subunit Beta 2) is a Protein Coding gene. Diseases associated with COPB2 include Microcephaly 19, Primary, Autosomal Recessive and Primary Autosomal Recessive Microcephaly. Among its related pathways are Metabolism of proteins and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is COPA.

UniProtKB/Swiss-Prot Summary for COPB2 Gene

  • The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).
  • This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner (By similarity).

Gene Wiki entry for COPB2 Gene

Additional gene information for COPB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COPB2 Gene

Genomics for COPB2 Gene

GeneHancer (GH) Regulatory Elements for COPB2 Gene

Promoters and enhancers for COPB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COPB2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COPB2

Top Transcription factor binding sites by QIAGEN in the COPB2 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • p53

Genomic Locations for COPB2 Gene

Genomic Locations for COPB2 Gene
chr3:139,355,600-139,389,680
(GRCh38/hg38)
Size:
34,081 bases
Orientation:
Minus strand
chr3:139,074,442-139,108,574
(GRCh37/hg19)
Size:
34,133 bases
Orientation:
Minus strand

Genomic View for COPB2 Gene

Genes around COPB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COPB2 Gene

Proteins for COPB2 Gene

  • Protein details for COPB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35606-COPB2_HUMAN
    Recommended name:
    Coatomer subunit beta'
    Protein Accession:
    P35606
    Secondary Accessions:
    • B4DZI8

    Protein attributes for COPB2 Gene

    Size:
    906 amino acids
    Molecular mass:
    102487 Da
    Quaternary structure:
    • Oligomeric complex that consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Probably interacts with PEX11A. Interacts with SCYL1 (By similarity). Interacts with JAGN1 (PubMed:25129144).

    Alternative splice isoforms for COPB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COPB2 Gene

Post-translational modifications for COPB2 Gene

  • Ubiquitination at Lys168, Lys318, Lys328, Lys346, Lys386, Lys608, and Lys724
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COPB2 Gene

Domains & Families for COPB2 Gene

Gene Families for COPB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for COPB2 Gene

Blocks:
  • G-protein beta WD-40 repeat signature
  • Coatomer WD associated region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COPB2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56271, highly similar to Coatomer subunit beta (B4DZI8_HUMAN)
  • p102 (COPB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35606

UniProtKB/Swiss-Prot:

COPB2_HUMAN :
  • Belongs to the WD repeat COPB2 family.
Family:
  • Belongs to the WD repeat COPB2 family.
genes like me logo Genes that share domains with COPB2: view

Function for COPB2 Gene

Molecular function for COPB2 Gene

UniProtKB/Swiss-Prot Function:
The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity).
UniProtKB/Swiss-Prot Function:
This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner (By similarity).
GENATLAS Biochemistry:
Golgi coatomer complex,beta subunit,component of the coat of non clathrin coated vesicles,putatively involved in regulating membrane trafficking in the exocytic pathway

Phenotypes From GWAS Catalog for COPB2 Gene

Gene Ontology (GO) - Molecular Function for COPB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI,IEA 21988832
genes like me logo Genes that share ontologies with COPB2: view

Phenotypes for COPB2 Gene

MGI mutant phenotypes for COPB2:
inferred from 4 alleles
GenomeRNAi human phenotypes for COPB2:
genes like me logo Genes that share phenotypes with COPB2: view

Human Phenotype Ontology for COPB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPB2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COPB2 Gene

Localization for COPB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPB2 Gene

Cytoplasm, cytosol. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, COPI-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Shows only a slight preference for the cis-Golgi apparatus, compared with the trans-Golgi. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COPB2 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
endoplasmic reticulum 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COPB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with COPB2: view

Pathways & Interactions for COPB2 Gene

genes like me logo Genes that share pathways with COPB2: view

Pathways by source for COPB2 Gene

5 GeneGo (Thomson Reuters) pathways for COPB2 Gene
  • Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
  • Delta508-CFTR traffic / ER-to-Golgi in CF
  • Normal wtCFTR traffic / ER-to-Golgi
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Gene Ontology (GO) - Biological Process for COPB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA,IBA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS,IBA 11030615
GO:0006891 intra-Golgi vesicle-mediated transport IBA,IDA 8335000
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with COPB2: view

No data available for SIGNOR curated interactions for COPB2 Gene

Drugs & Compounds for COPB2 Gene

(1) Drugs for COPB2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for COPB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COPB2: view

Transcripts for COPB2 Gene

mRNA/cDNA for COPB2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPB2

Alternative Splicing Database (ASD) splice patterns (SP) for COPB2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - - -
SP2: - - -
SP3: -
SP4: - - - - - - -
SP5:
SP6: - - -
SP7:
SP8: -
SP9:

ExUns: 22 ^ 23a · 23b ^ 24a · 24b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for COPB2 Gene

GeneLoc Exon Structure for
COPB2

Expression for COPB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COPB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COPB2 Gene

This gene is overexpressed in Lymph node (7.7) and Salivary gland (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COPB2 Gene



Protein tissue co-expression partners for COPB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COPB2

SOURCE GeneReport for Unigene cluster for COPB2 Gene:

Hs.681616

Evidence on tissue expression from TISSUES for COPB2 Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Lung(4.4)
  • Blood(4.3)
  • Eye(4.1)
  • Skin(3.3)
  • Kidney(3.2)
  • Pancreas(2.4)
  • Heart(2)
genes like me logo Genes that share expression patterns with COPB2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPB2 Gene

Orthologs for COPB2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COPB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COPB2 31 30
  • 99.71 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 97 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia COPB2 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COPB2 31 30
  • 94.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COPB2 31 30
  • 93.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Copb2 17 31 30
  • 91.97 (n)
rat
(Rattus norvegicus)
Mammalia Copb2 30
  • 90.5 (n)
chicken
(Gallus gallus)
Aves COPB2 31 30
  • 82.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COPB2 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia copb2 30
  • 76.42 (n)
Str.1132 30
African clawed frog
(Xenopus laevis)
Amphibia wufc55e05-prov 30
zebrafish
(Danio rerio)
Actinopterygii copb2 31 30
  • 77.1 (n)
OneToOne
wufc55e05 30
fruit fly
(Drosophila melanogaster)
Insecta &bgr;'Cop 32
  • 70 (a)
beta'Cop 31 30
  • 64.12 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004798 30
  • 62.95 (n)
worm
(Caenorhabditis elegans)
Secernentea F38E11.5 32
  • 65 (a)
CELE_F38E11.5 30
  • 63.42 (n)
copb-2 31
  • 57 (a)
OneToMany
E03H4.8 31 32
  • 51 (a)
OneToMany
Y41C4A.11 31 32
  • 34 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01958g 30
  • 54.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC27 33 31 30
  • 54.24 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL118W 30
  • 52.81 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79990 30
  • 62.13 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9587 30
rice
(Oryza sativa)
Liliopsida Os06g0143900 30
  • 60.41 (n)
Os.46583 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3776 31
  • 72 (a)
OneToOne
Cin.4264 30
bread mold
(Neurospora crassa)
Ascomycetes NCU07319 30
  • 56.4 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec27 30
  • 55.02 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4264 30
Species where no ortholog for COPB2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COPB2 Gene

ENSEMBL:
Gene Tree for COPB2 (if available)
TreeFam:
Gene Tree for COPB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COPB2: view image

Paralogs for COPB2 Gene

Paralogs for COPB2 Gene

(5) SIMAP similar genes for COPB2 Gene using alignment to 9 proteins:

  • COPB2_HUMAN
  • B4DZI8_HUMAN
  • D6R997_HUMAN
  • D6RBG7_HUMAN
  • D6RBT6_HUMAN
  • D6RBZ7_HUMAN
  • D6RCL6_HUMAN
  • H0Y938_HUMAN
  • H0YAC7_HUMAN
genes like me logo Genes that share paralogs with COPB2: view

Variants for COPB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COPB2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
671700 Benign: not provided 139,356,886(-) A/G INTRON_VARIANT
rs1229568621 Pathogenic: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE. Microcephaly 19, primary, autosomal recessive (MCPH19) [MIM:617800] 139,373,800(-) G/Ap.Arg254Cys MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs147932653 Conflicting Interpretations: not provided 139,355,741(-) C/T MISSENSE_VARIANT
rs372892045 Likely Benign: not specified. Conflicting Interpretations: not specified; Combined oxidative phosphorylation deficiency 139,355,796(-) G/GTGT/G INTRON_VARIANT
rs772578397 Uncertain Significance: Combined oxidative phosphorylation deficiency 5 139,356,962(-) T/TAACA FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for COPB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for COPB2 Gene

Variant ID Type Subtype PubMed ID
nsv4034 CNV deletion 18451855
nsv478897 CNV novel sequence insertion 20440878

Variation tolerance for COPB2 Gene

Residual Variation Intolerance Score: 8.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.79; 33.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COPB2 Gene

Human Gene Mutation Database (HGMD)
COPB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COPB2 Gene

Disorders for COPB2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for COPB2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search COPB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COPB2_HUMAN
  • Microcephaly 19, primary, autosomal recessive (MCPH19) [MIM:617800]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination. {ECO:0000269 PubMed:29036432}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COPB2

genes like me logo Genes that share disorders with COPB2: view

No data available for Genatlas for COPB2 Gene

Publications for COPB2 Gene

  1. A 102 kDa subunit of a Golgi-associated particle has homology to beta subunits of trimeric G proteins. (PMID: 8335000) Harrison-Lavoie KJ … Willison KR (The EMBO journal 1993) 3 4 23 54
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K … Vandekerckhove J (Nature biotechnology 2003) 3 4 54
  5. Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization. (PMID: 9858824) De Baere E … Messiaen L (Cytogenetics and cell genetics 1998) 2 3 54

Products for COPB2 Gene

Sources for COPB2 Gene