Human Gene COG5 (uc003vec.2)
  Description: Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.
RefSeq Summary (NM_006348): The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]. Sequence Note:.
Transcript (Including UTRs)
   Position: hg19 chr7:106,842,189-107,204,959 Size: 362,771 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg19 chr7:106,843,961-107,204,434 Size: 360,474 Coding Exon Count: 22 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:106,842,189-107,204,959)mRNA (may differ from genome)Protein (860 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): COG5
CDC HuGE Published Literature: COG5
Positive Disease Associations: Calcium , Osteoarthritis
Related Studies:
  1. Calcium
    , , . [PubMed 0]
  2. Osteoarthritis
    Hanneke J M Kerkhof et al. Arthritis and rheumatism 2010, A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22., Arthritis and rheumatism. [PubMed 20112360]
    Our findings identify a novel common variant on chromosome 7q22 that influences susceptibility to prevalence and progression of OA. Since the GPR22 gene encodes a G protein-coupled receptor, this is potentially an interesting therapeutic target.

-  MalaCards Disease Associations
  MalaCards Gene Search: COG5
Diseases sorted by gene-association score: congenital disorder of glycosylation, type iii* (1250)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.14 RPKM in Cervix - Endocervix
Total median expression: 214.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -204.74525-0.390 Picture PostScript Text
3' UTR -443.441772-0.250 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF08700 - Vps51/Vps67
PF10392 - Golgi transport complex subunit 5

ModBase Predicted Comparative 3D Structure on Q9UP83-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Descriptions from all associated GenBank mRNAs
  AK022835 - Homo sapiens cDNA FLJ12773 fis, clone NT2RP2001660, highly similar to Conserved oligomeric Golgi complex component 5.
AF058718 - Homo sapiens putative 13 S Golgi transport complex 90kD subunit brain-specific isoform mRNA, complete cds.
AK314270 - Homo sapiens cDNA, FLJ95023.
BC068540 - Homo sapiens component of oligomeric golgi complex 5, mRNA (cDNA clone MGC:87389 IMAGE:4374289), complete cds.
HQ258000 - Synthetic construct Homo sapiens clone IMAGE:100072309 component of oligomeric golgi complex 5 (COG5), transcript variant 3 (COG5) gene, encodes complete protein.
KJ898221 - Synthetic construct Homo sapiens clone ccsbBroadEn_07615 COG5 gene, encodes complete protein.
LF209511 - JP 2014500723-A/17014: Polycomb-Associated Non-Coding RNAs.
LF213998 - JP 2014500723-A/21501: Polycomb-Associated Non-Coding RNAs.
MA449575 - JP 2018138019-A/21501: Polycomb-Associated Non-Coding RNAs.
MA445088 - JP 2018138019-A/17014: Polycomb-Associated Non-Coding RNAs.
AK123726 - Homo sapiens cDNA FLJ41732 fis, clone HLUNG2017546.
JD090183 - Sequence 71207 from Patent EP1572962.
JD235501 - Sequence 216525 from Patent EP1572962.
JD309860 - Sequence 290884 from Patent EP1572962.
JD217142 - Sequence 198166 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UP83 (Reactome details) participates in the following event(s):

R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex
R-HSA-6811433 The COG tethering complex interacts with numerous SNAREs at the Golgi membrane
R-HSA-8847544 The COG complex and CUX1 and GOLGA5 dimers contribute to intra-Golgi vesicle tethering
R-HSA-8849748 The COG complex binds RABs at the Golgi membrane
R-HSA-6811431 RAB6:GTP binds the GARP and COG complexes, t-SNAREs and endosome-derived vesicles
R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811438 Intra-Golgi traffic
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: GOLTC1, GTC90, NM_006348, NP_006339, Q9UP83-2
UCSC ID: uc003vec.2
RefSeq Accession: NM_006348
Protein: Q9UP83-2, splice isoform of Q9UP83 CCDS: CCDS55152.1, CCDS5742.1, CCDS5743.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COG5:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006348.3
exon count: 22CDS single in 3' UTR: no RNA size: 4880
ORF size: 2583CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5244.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.