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

Gene ID: 57511, updated on 24-Nov-2020

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

Genomic context

See COG6 in Genome Data Viewer
Location:
13q14.11
Exon count:
22
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (39655627..39791666)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (40229764..40365802)

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endoplasmic reticulum to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi transport complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi transport complex IDA
Inferred from Direct Assay
more info
PubMed 
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)

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 109.20201120

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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