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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
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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

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