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    COG7 component of oligomeric golgi complex 7 [ Homo sapiens (human) ]

    Gene ID: 91949, updated on 3-Apr-2024

    Summary

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    Official Symbol
    COG7provided by HGNC
    Official Full Name
    component of oligomeric golgi complex 7provided by HGNC
    Primary source
    HGNC:HGNC:18622
    See related
    Ensembl:ENSG00000168434 MIM:606978; AllianceGenome:HGNC:18622
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDG2E
    Summary
    The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.2), prostate (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p12.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23388493..23453189, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23664543..23729267, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23399814..23464510, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23197073-23197574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23197575-23198074 Neighboring gene sodium channel epithelial 1 subunit gamma Neighboring gene Sharpr-MPRA regulatory region 8546 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:23291226-23291748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23312821-23313338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23313339-23313855 Neighboring gene sodium channel epithelial 1 subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23359541-23360042 Neighboring gene Sharpr-MPRA regulatory region 1348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23391379-23391880 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:23410440-23411363 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:23435589-23436134 Neighboring gene RN7SK pseudogene 23 Neighboring gene uncharacterized LOC124903667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:23511811-23512473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23515779-23516280 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23516281-23516780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7277 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10582 Neighboring gene cyclin Y like 7 (pseudogene) Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23549327-23549828 Neighboring gene glutamyl-tRNA synthetase 2, mitochondrial Neighboring gene SUB1 pseudogene 4

    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. A new mutation in COG7 extends the spectrum of COG subunit deficiencies. Zeevaert R, et al. Eur J Med Genet, 2009 Sep-Oct. PMID 19577670
    2. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Morava E, et al. Eur J Hum Genet, 2007 Jun. PMID 17356545
    3. COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins. Steet R, et al. Mol Biol Cell, 2006 May. PMID 16510524, Free PMC Article
    4. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Wu X, et al. Nat Med, 2004 May. PMID 15107842
    5. Membrane detachment is not essential for COG complex function. Climer LK, et al. Mol Biol Cell, 2018 Apr 15. PMID 29467253, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM-COG4, COG7 and COG8 subunits restore endogenous COG localization to the Golgi membranes
      Title: Membrane detachment is not essential for COG complex function.
    2. Targeted silencing of components of lobe B of the COG complex, namely COG5, COG6, COG7 and COG8, inhibited HIV-1 replication
      Title: Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.
    3. Cog5-Cog7 crystal structure reveals interactions essential for the function of a multisubunit tethering complex.
      Title: Cog5-Cog7 crystal structure reveals interactions essential for the function of a multisubunit tethering complex.
    4. A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
      Title: A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
    5. Retrograde transport of multiple Golgi proteins to the ER in COG-7-deficient patient fibroblasts via brefeldin A-induced tubules was significantly slower than occurs in normal fibroblasts.
      Title: COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins.
    6. A homozygous, intronic splice site mutation (c.169+4A>C) of the COG7 gene was identified in 3 patients with Congenital Disorder of Glycosylation type IIe.
      Title: A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
    7. COG5- and COG7 subunits play distinctive roles in controlling Golgi structure and function
      Title: Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to Golgi apparatus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to organelle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde transport, vesicle recycling within Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of Golgi transport complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Golgi transport complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Golgi transport complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    conserved oligomeric Golgi complex subunit 7
    Names
    COG complex subunit 7

    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.

    Genomic

    1. NG_021287.1 RefSeqGene

      Range
      5003..69699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_153603.4 → NP_705831.1  conserved oligomeric Golgi complex subunit 7

      See identical proteins and their annotated locations for NP_705831.1

      Status: REVIEWED

      Source sequence(s)
      BC037563, DB444997, R54036
      Consensus CDS
      CCDS10610.1
      UniProtKB/Swiss-Prot
      P83436, Q6UWU7
      UniProtKB/TrEMBL
      A0A0S2Z652
      Related
      ENSP00000305442.5, ENST00000307149.10
      Conserved Domains (1) summary
      pfam10191
      Location:2 → 767
      COG7; Golgi complex component 7 (COG7)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      23388493..23453189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023870.2 → XP_016879359.1  conserved oligomeric Golgi complex subunit 7 isoform X1

      UniProtKB/TrEMBL
      B3KSN1
      Conserved Domains (1) summary
      pfam10191
      Location:1 → 702
      COG7; Golgi complex component 7 (COG7)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      23664543..23729267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314338.1 → XP_054170313.1  conserved oligomeric Golgi complex subunit 7 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P83436.1 GenPept UniProtKB/Swiss-Prot:P83436

    Gene LinkOut

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

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