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    COPB2 COPI coat complex subunit beta 2 [ Homo sapiens (human) ]

    Gene ID: 9276, updated on 10-Dec-2024

    Summary

    Official Symbol
    COPB2provided by HGNC
    Official Full Name
    COPI coat complex subunit beta 2provided by HGNC
    Primary source
    HGNC:HGNC:2232
    See related
    Ensembl:ENSG00000184432 MIM:606990; AllianceGenome:HGNC:2232
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OPDD; MCPH19; beta'-COP
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 30.4), prostate (RPKM 28.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See COPB2 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (139357406..139389680, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (142104959..142137239, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (139076248..139108522, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909439 Neighboring gene Sharpr-MPRA regulatory region 3993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20611 Neighboring gene mitochondrial ribosomal protein S22 Neighboring gene uncharacterized LOC124906339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:139108213-139108774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:139108775-139109337 Neighboring gene COPB2 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:139191689-139192888 Neighboring gene retinol binding protein 2 Neighboring gene actin gamma 1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (852 hits/1278 screens)

    Associated conditions

    Description Tests
    Microcephaly 19, primary, autosomal recessive
    MedGen: C4540488 OMIM: 617800 GeneReviews: Not available
    Compare labs
    Osteoporosis, childhood- or juvenile-onset, with developmental delay
    MedGen: C5676992 OMIM: 619884 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with COPB2; predicted interaction to be within the Golgi PubMed
    Nef nef HIV-1 Nef weakly and directly interacts with COPB2 (beta-COP) in 293T cells and this interaction is dependent on Nef membrane localization as shown by FACS-Forster resonance energy transfer (FRET)-based and site-directed mutagenesis experiments PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables structural molecule activity  
    Component Evidence Code Pubs
    part_of COPI vesicle coat  
    part_of COPI vesicle coat PubMed 
    located_in Golgi membrane  
    located_in cytosol  
    located_in endoplasmic reticulum membrane  
    located_in transport vesicle  

    General protein information

    Preferred Names
    coatomer subunit beta'
    Names
    beta'-coat protein
    betaprime-COP
    coatomer binding complex, beta prime subunit
    coatomer protein complex subunit beta 2
    coatomer protein complex subunit beta prime
    coatomer protein complex, subunit beta 2 (beta prime)
    p102

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001410834.1 → NP_001397763.1  coatomer subunit beta' isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC024933
      Consensus CDS
      CCDS93395.1
      UniProtKB/TrEMBL
      H0Y938
      Related
      ENSP00000427185.2, ENST00000512242.6
    2. NM_004766.3 → NP_004757.1  coatomer subunit beta' isoform 1

      See identical proteins and their annotated locations for NP_004757.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate splice donor site in the first coding exon and is predicted to encode a protein.
      Source sequence(s)
      AC024933, BC000326, DC347783, X70476
      Consensus CDS
      CCDS3108.1
      UniProtKB/Swiss-Prot
      B4DZI8, P35606
      UniProtKB/TrEMBL
      H0Y938
      Related
      ENSP00000329419.4, ENST00000333188.10
      Conserved Domains (4) summary
      COG2319
      Location:24 → 428
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:8 → 297
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      pfam04053
      Location:320 → 763
      Coatomer_WDAD; Coatomer WD associated region
      sd00039
      Location:103 → 140
      7WD40; WD40 repeat [structural motif]

    RNA

    1. NR_023350.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice donor site which introduces a stop codon shortly after the initiating AUG site and renders the transcript a candidate for nonsense-mediated decay.
      Source sequence(s)
      BC000326, DC347783, DC385126

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      139357406..139389680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449233.1 → XP_047305189.1  coatomer subunit beta' isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      142104959..142137239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348439.1 → XP_054204414.1  coatomer subunit beta' isoform X1

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