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    COG8 component of oligomeric golgi complex 8 [ Homo sapiens (human) ]

    Gene ID: 84342, updated on 26-Nov-2024

    Summary

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    Official Symbol
    COG8provided by HGNC
    Official Full Name
    component of oligomeric golgi complex 8provided by HGNC
    Primary source
    HGNC:HGNC:18623
    See related
    Ensembl:ENSG00000213380 MIM:606979; AllianceGenome:HGNC:18623
    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
    DOR1; CDG2H
    Summary
    This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 17.4), kidney (RPKM 11.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See COG8 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (69326428..69339564, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (75128123..75141258, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69360331..69373467, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 22, pseudogene Neighboring gene syntrophin beta 2 Neighboring gene zinc finger CCHC-type and RNA binding motif containing 1 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:69344125-69345075 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:69345076-69346025 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:69349279-69350478 Neighboring gene vacuolar protein sorting 4 homolog A Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:69363857-69364504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69365153-69365800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11037 Neighboring gene peptide deformylase, mitochondrial Neighboring gene nucleolar pre-rRNA processing protein NIP7 Neighboring gene transmembrane p24 trafficking protein 6

    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. Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing. Yang A, et al. Clin Chim Acta, 2017 Aug. PMID 28619360
    2. Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals. Pereira-Castro I, et al. Hum Genet, 2012 Feb. PMID 21805148
    3. COG8 deficiency causes new congenital disorder of glycosylation type IIh. Kranz C, et al. Hum Mol Genet, 2007 Apr 1. PMID 17331980
    4. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Foulquier F, et al. Hum Mol Genet, 2007 Apr 1. PMID 17220172
    5. TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma. Xu Y, et al. Int J Clin Exp Pathol, 2015. PMID 26045774, Free PMC Article

    See all (41) 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. The exome sequencing was performed to screen all CDG type II-related genes, and two novel frameshift mutations were found: c.171dupG (p.Leu58Alafs*29) and c.1656dupC (p.Ala553Argfs*15) in COG8.
      Title: Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.
    3. TMED6-COG8 chimera might act as a novel diagnostic marker in TFE3 translocation renal cell carcinoma.
      Title: TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma.
    4. 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.
    5. wthe origin, evolution and preservation of the COG8/PDF same-strand overlap follow similar mechanistic steps as those documented for antisense overlaps where gain and/or loss of splice sites and polyadenylation signals seems to drive the process.
      Title: Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals.
    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)

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intra-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retrograde transport, vesicle recycling within Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    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 membrane HDA PubMed 
    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 8
    Names
    COG complex subunit 8
    conserved oligomeric golgi complex component 8
    dependent on RIC1

    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_009013.2 RefSeqGene

      Range
      5000..18136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001374871.1 → NP_001361800.1  conserved oligomeric Golgi complex subunit 8 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC026464
      Consensus CDS
      CCDS92189.1
      UniProtKB/TrEMBL
      B4DYU2, H3BQV3
      Related
      ENSP00000455954.1, ENST00000562081.2
      Conserved Domains (1) summary
      pfam04124
      Location:50 → 364
      Dor1; Dor1-like family

    2. NM_001379261.1 → NP_001366190.1  conserved oligomeric Golgi complex subunit 8 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC026464
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (1) summary
      pfam04124
      Location:50 → 388
      Dor1; Dor1-like family

    3. NM_001379262.1 → NP_001366191.1  conserved oligomeric Golgi complex subunit 8 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC026464
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (2) summary
      pfam04124
      Location:50 → 388
      Dor1; Dor1-like family
      cl00234
      Location:588 → 627
      Pep_deformylase; Polypeptide or peptide deformylase; a family of metalloenzymes that catalyzes the removal of the N-terminal formyl group in a growing polypeptide chain following translation initiation during protein synthesis in prokaryotes. These enzymes utilize Fe(II) ...

    4. NM_001379263.1 → NP_001366192.1  conserved oligomeric Golgi complex subunit 8 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC026464
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (1) summary
      pfam04124
      Location:50 → 388
      Dor1; Dor1-like family

    5. NM_001379264.1 → NP_001366193.1  conserved oligomeric Golgi complex subunit 8 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC026464
      Consensus CDS
      CCDS10876.1
      UniProtKB/Swiss-Prot
      Q0VAK2, Q8WVV6, Q96MW5, Q9H6F8
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (1) summary
      pfam04124
      Location:50 → 388
      Dor1; Dor1-like family

    6. NM_001379265.1 → NP_001366194.1  conserved oligomeric Golgi complex subunit 8 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC026464
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (2) summary
      pfam04124
      Location:50 → 388
      Dor1; Dor1-like family
      cl00234
      Location:528 → 568
      Pep_deformylase; Polypeptide or peptide deformylase; a family of metalloenzymes that catalyzes the removal of the N-terminal formyl group in a growing polypeptide chain following translation initiation during protein synthesis in prokaryotes. These enzymes utilize Fe(II) ...

    7. NM_001379266.1 → NP_001366195.1  conserved oligomeric Golgi complex subunit 8 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC026464
      Conserved Domains (1) summary
      pfam04124
      Location:50 → 388
      Dor1; Dor1-like family

    8. NM_032382.5 → NP_115758.3  conserved oligomeric Golgi complex subunit 8 isoform 1

      See identical proteins and their annotated locations for NP_115758.3

      Status: REVIEWED

      Source sequence(s)
      AC026464, BC017492, BC121022
      Consensus CDS
      CCDS10876.1
      UniProtKB/Swiss-Prot
      Q0VAK2, Q8WVV6, Q96MW5, Q9H6F8
      UniProtKB/TrEMBL
      B4DYU2
      Related
      ENSP00000305459.6, ENST00000306875.10
      Conserved Domains (1) summary
      pfam04124
      Location:50 → 388
      Dor1; Dor1-like family

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      69326428..69339564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      75128123..75141258 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MW5.2 GenPept UniProtKB/Swiss-Prot:Q96MW5

    Gene LinkOut

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

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