Human Gene COG8 (uc002ewy.2) Description and Page Index
  Description: Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.
RefSeq Summary (NM_032382): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK056344.1, SRR1803613.108920.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr16:69,362,524-69,373,526 Size: 11,003 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr16:69,364,742-69,373,455 Size: 8,714 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:69,362,524-69,373,526)mRNA (may differ from genome)Protein (612 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Conserved oligomeric Golgi complex subunit 8; Short=COG complex subunit 8; AltName: Full=Component of oligomeric Golgi complex 8;
FUNCTION: Required for normal Golgi function (By similarity).
SUBUNIT: Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein.
DISEASE: Defects in COG8 are the cause of congenital disorder of glycosylation type 2H (CDG2H) [MIM:611182]. CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
SIMILARITY: Belongs to the COG8 family.
SEQUENCE CAUTION: Sequence=AAH17492.1; Type=Erroneous initiation; Sequence=BAB15301.1; Type=Frameshift; Positions=371;

-  MalaCards Disease Associations
  MalaCards Gene Search: COG8
Diseases sorted by gene-association score: congenital disorder of glycosylation, type iih* (1279), accommodative esotropia (16), anisometropia (7), episodic ataxia, type 2 (6), esotropia (6), congenital disorder of glycosylation, type ii (6)
* = 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
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.88 RPKM in Testis
Total median expression: 164.62 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.7071-0.277 Picture PostScript Text
3' UTR -197.35585-0.337 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
  InterPro Domains: Graphical view of domain structure
IPR016632 - COG_su8
IPR016159 - Cullin_repeat-like_dom
IPR007255 - Dor1

Pfam Domains:
PF04124 - Dor1-like family

ModBase Predicted Comparative 3D Structure on Q96MW5
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 BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0015031 protein transport

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0017119 Golgi transport complex
GO:0032588 trans-Golgi network membrane

-  Descriptions from all associated GenBank mRNAs
  JD023108 - Sequence 4132 from Patent EP1572962.
BC019912 - Homo sapiens peptide deformylase (mitochondrial), mRNA (cDNA clone MGC:30048 IMAGE:4994286), complete cds.
AF239156 - Homo sapiens peptide deformylase-like protein mRNA, complete cds.
BC017492 - Homo sapiens component of oligomeric golgi complex 8, mRNA (cDNA clone IMAGE:3909241), complete cds.
AK056344 - Homo sapiens cDNA FLJ31782 fis, clone NT2RI2008336, highly similar to Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.
AF322879 - Homo sapiens polypeptide deformylase-like protein (PDF) mRNA, complete cds.
BC063831 - Homo sapiens cDNA clone IMAGE:6502781, **** WARNING: chimeric clone ****.
AK025968 - Homo sapiens cDNA: FLJ22315 fis, clone HRC05256.
AK225391 - Homo sapiens mRNA for component of oligomeric golgi complex 8 variant, clone: HRC05256.
JD089909 - Sequence 70933 from Patent EP1572962.
JD280891 - Sequence 261915 from Patent EP1572962.
JD315217 - Sequence 296241 from Patent EP1572962.
AK302605 - Homo sapiens cDNA FLJ55996 complete cds, highly similar to Conserved oligomeric Golgi complex component 8.
JD361943 - Sequence 342967 from Patent EP1572962.
JD360425 - Sequence 341449 from Patent EP1572962.
JD274103 - Sequence 255127 from Patent EP1572962.
JD470328 - Sequence 451352 from Patent EP1572962.
JD382991 - Sequence 364015 from Patent EP1572962.
BC121022 - Homo sapiens component of oligomeric golgi complex 8, mRNA (cDNA clone MGC:149681 IMAGE:40117369), complete cds.
BC121023 - Homo sapiens component of oligomeric golgi complex 8, mRNA (cDNA clone MGC:149682 IMAGE:40117370), complete cds.
KJ906364 - Synthetic construct Homo sapiens clone ccsbBroadEn_16034 COG8 gene, encodes complete protein.
KJ903422 - Synthetic construct Homo sapiens clone ccsbBroadEn_12816 COG8 gene, encodes complete protein.
KM576757 - Homo sapiens clone TMED6-COG8_T1-C2 mRNA sequence.
KM576755 - Homo sapiens clone TMED6-COG8_T3-C2 mRNA sequence.
KM576756 - Homo sapiens clone TMED6-COG8_T2-C2 mRNA sequence.

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

Protein Q96MW5 (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: COG8_HUMAN, NM_032382, NP_115758, Q0VAK2, Q8WVV6, Q96MW5, Q9H6F8
UCSC ID: uc002ewy.2
RefSeq Accession: NM_032382
Protein: Q96MW5 (aka COG8_HUMAN)
CCDS: CCDS10876.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COG8:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_032382.4
exon count: 6CDS single in 3' UTR: no RNA size: 2522
ORF size: 1839CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3501.00frame shift in genome: no % Coverage: 98.93
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.