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

Gene ID: 84342, updated on 5-Mar-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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Location:
16q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (69326428..69339564, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (75128123..75141258, complement)
105.20220307 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. 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 (40) 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)

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

Clone Names

  • FLJ22315

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_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
    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

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