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    COPG2 COPI coat complex subunit gamma 2 [ Homo sapiens (human) ]

    Gene ID: 26958, updated on 5-Mar-2024

    Summary

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    Official Symbol
    COPG2provided by HGNC
    Official Full Name
    COPI coat complex subunit gamma 2provided by HGNC
    Primary source
    HGNC:HGNC:2237
    See related
    Ensembl:ENSG00000158623 MIM:604355; AllianceGenome:HGNC:2237
    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
    2-COP; gamma-2-COP
    Summary
    Predicted to enable structural molecule activity. Involved in intra-Golgi vesicle-mediated transport. Part of COPI vesicle coat. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 19.0), ovary (RPKM 19.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q32.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130506238..130668748, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131819957..131983050, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130146079..130353588, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26656 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:130126788-130127007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18646 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:130143892-130145091 Neighboring gene MEST intronic transcript 1, antisense RNA Neighboring gene mesoderm specific transcript Neighboring gene microRNA 335 Neighboring gene COPG2 imprinted transcript 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:130261863-130262448 Neighboring gene uncharacterized LOC124901746 Neighboring gene MPRA-validated peak6720 silencer Neighboring gene RNA, 5S ribosomal pseudogene 246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18648 Neighboring gene NANOG hESC enhancer GRCh37_chr7:130361154-130361710 Neighboring gene testis specific 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:130418105-130418642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18650 Neighboring gene uncharacterized LOC105375508 Neighboring gene KLF transcription factor 14 Neighboring gene uncharacterized LOC105375509 Neighboring gene armadillo repeat containing X-linked 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Blagitko N, et al. Hum Mol Genet, 1999 Dec. PMID 10556286
    2. Afferent innervation of the vestibular nuclei in the chinchilla. II. Description of the vestibular nerve and nuclei. Newman A, et al. Brain Res, 1992 Dec 4. PMID 1472999
    3. The novel gene, gamma2-COP (COPG2), in the 7q32 imprinted domain escapes genomic imprinting. Yamasaki K, et al. Genomics, 2000 Sep 15. PMID 10995575
    4. SCYL1 arginine methylation by PRMT1 is essential for neurite outgrowth via Golgi morphogenesis. Amano G, et al. Mol Biol Cell, 2020 Aug 15. PMID 32583741, Free PMC Article
    5. Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices. Schneider E, et al. Cytogenet Genome Res, 2012. PMID 22456293

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SCYL1 arginine methylation by PRMT1 is essential for neurite outgrowth via Golgi morphogenesis.
      Title: SCYL1 arginine methylation by PRMT1 is essential for neurite outgrowth via Golgi morphogenesis.
    2. In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes.
      Title: Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices.
    3. Mutation sscreening and imprinting analysis of candidate genes for autism in the 7q32 region
      Title: Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11781, DKFZp761N09121

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intra-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intra-Golgi vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in organelle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of COPI vesicle coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of COPI vesicle coat IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum-Golgi intermediate compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in transport vesicle TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    coatomer subunit gamma-2
    Names
    coat protein, nonclathrin, gamma-2-cop
    coatomer protein complex subunit gamma 2
    gamma-2-coat protein
    testicular secretory protein Li 12

    NCBI Reference Sequences (RefSeq)

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    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_001290033.2 → NP_001276962.1  coatomer subunit gamma-2 isoform 2

      See identical proteins and their annotated locations for NP_001276962.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL162012, BC110796, BX353590
      Consensus CDS
      CCDS78275.1
      UniProtKB/TrEMBL
      Q9H9B7
      Related
      ENSP00000331218.8, ENST00000330992.8
      Conserved Domains (2) summary
      COG5240
      Location:7 → 718
      SEC21; Vesicle coat complex COPI, gamma subunit [Intracellular trafficking and secretion]
      sd00044
      Location:398 → 423
      HEAT; HEAT repeat [structural motif]

    2. NM_012133.6 → NP_036265.3  coatomer subunit gamma-2 isoform 1

      See identical proteins and their annotated locations for NP_036265.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF157833, AK291409, BX089636, HY355769
      Consensus CDS
      CCDS75662.1
      UniProtKB/Swiss-Prot
      A6NH74, Q2NLA0, Q54AC3, Q8WVW8, Q9UBF2
      UniProtKB/TrEMBL
      A0A140VK12, Q9H9B7
      Related
      ENSP00000402346.2, ENST00000425248.5
      Conserved Domains (2) summary
      COG5240
      Location:7 → 866
      SEC21; Vesicle coat complex COPI, gamma subunit [Intracellular trafficking and secretion]
      sd00044
      Location:398 → 423
      HEAT; HEAT repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      130506238..130668748 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      131819957..131983050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBF2.1 GenPept UniProtKB/Swiss-Prot:Q9UBF2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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