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    COG6 component of oligomeric golgi complex 6 [ Homo sapiens (human) ]

    Gene ID: 57511, updated on 8-Jul-2021

    Summary

    Official Symbol
    COG6provided by HGNC
    Official Full Name
    component of oligomeric golgi complex 6provided by HGNC
    Primary source
    HGNC:HGNC:18621
    See related
    Ensembl:ENSG00000133103 MIM:606977
    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
    COD2; SHNS; CDG2L
    Summary
    This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
    Expression
    Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 5.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See COG6 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (39655627..39791666)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (40229764..40365803)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene LHFPL tetraspan subfamily member 6 Neighboring gene uncharacterized LOC105370170 Neighboring gene protein SPT2 homolog Neighboring gene microRNA 4305 Neighboring gene CDKN2A interacting protein N-terminal like pseudogene 3 Neighboring gene RNY4 pseudogene 14 Neighboring gene azurocidin 1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.
    GeneReviews: Not available
    Congenital disorder of glycosylation type 2L
    MedGen: C3553230 OMIM: 614576 GeneReviews: Not available
    Compare labs
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    GeneReviews: Not available
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    GeneReviews: Not available
    Shaheen syndrome
    MedGen: C3809160 OMIM: 615328 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1134, DKFZp313D191

    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 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
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    part_of Golgi transport complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of Golgi transport complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    conserved oligomeric Golgi complex subunit 6
    Names
    COG complex subunit 6
    complexed with Dor1p 2
    conserved oligomeric Golgi complex protein 6
    testicular tissue protein Li 41

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_028352.1 RefSeqGene

      Range
      5036..141040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145079.2NP_001138551.1  conserved oligomeric Golgi complex subunit 6 isoform 2

      See identical proteins and their annotated locations for NP_001138551.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' most exon, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB032960, AL596306, DC317375
      Consensus CDS
      CCDS45042.1
      UniProtKB/Swiss-Prot
      Q9Y2V7
      UniProtKB/TrEMBL
      A0A140VJG7
      Related
      ENSP00000403733.1, ENST00000416691.5
      Conserved Domains (1) summary
      pfam06419
      Location:56610
      COG6; Conserved oligomeric complex COG6
    2. NM_020751.3NP_065802.1  conserved oligomeric Golgi complex subunit 6 isoform 1

      See identical proteins and their annotated locations for NP_065802.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL512505, BC051723, BU675177, DC317375
      Consensus CDS
      CCDS9370.1
      UniProtKB/Swiss-Prot
      Q9Y2V7
      UniProtKB/TrEMBL
      A0A024RDW5
      Related
      ENSP00000397441.2, ENST00000455146.8
      Conserved Domains (1) summary
      pfam06419
      Location:56652
      COG6; Conserved oligomeric complex COG6

    RNA

    1. NR_026745.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an additional exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF116827, AL512505, BU675177, DC317375
      Related
      ENST00000356576.8

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      39655627..39791666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535168.1XP_011533470.1  conserved oligomeric Golgi complex subunit 6 isoform X1

      Conserved Domains (1) summary
      pfam06419
      Location:56697
      COG6; Conserved oligomeric complex COG6
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