COG8 Gene
protein-coding GIFtS: 51
GCID: GC16M069354
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|
component of oligomeric golgi complex 8
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Aliases
for COG8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Component Of Oligomeric Golgi Complex 81 2 3 | | FLJ223151 | | DOR11 2 5 | | Conserved Oligomeric Golgi Complex Component 82 | | COG Complex Subunit 82 3 | | Conserved Oligomeric Golgi Complex Subunit 82 | | CDG2H2 5 | | Dependent On RIC12 |
Export aliases for COG8 gene to outside databasesPrevious GC identifers: GC16U990224 GC16M069741 GC16M069092 GC16M069139 GC16M069140 GC16M067921 GC16M069361 |
Summaries
for COG8 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for COG8:
This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complexthat plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking andglycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease thatis 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)
UniProtKB/Swiss-Prot: COG8_HUMAN, Q96MW5Function: Required for normal Golgi function (By similarity)
Gene Wiki entry for COG8
|
Genomic Views
for COG8 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010498.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the COG8 gene promoter:
AML1a p53 Nkx2-2 CUTL1 LCR-F1 HEN1 CBF-A CP1A NF-Y
Other transcription factors
Search SABiosciences Chromatin IP Primers for COG8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COG8 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q22.1 Ensembl cytogenetic band: 16q22.1 HGNC cytogenetic band: 16q22.1COG8 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M069354: view genomic region
(about GC identifiers)
Start:
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69,354,043 bp from pter |
End:
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69,373,570 bp from pter |
Size:
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19,528 bases |
Orientation:
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minus strand |
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Proteins
for COG8 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: COG8_HUMAN, Q96MW5 (See
protein sequence)Recommended Name: Conserved oligomeric Golgi complex subunit 8 Size: 612 amino acids; 68424 Da
Subunit: Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and isrequired for normal Golgi morphology and localization
Subcellular location: Golgi apparatus membrane; Peripheral membrane protein
Sequence caution: Sequence=AAH17492.1; Type=Erroneous initiation; Sequence=BAB15301.1; Type=Frameshift; Positions=371;
Secondary accessions: Q0VAK2 Q8WVV6 Q9H6F8Explore the universe of human proteins at neXtProt for COG8: NX_Q96MW5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96MW5
COG8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_115758.3
ENSEMBL proteins: ENSP00000456705 ENSP00000305459 ENSP00000455954 ENSP00000464395
Human Recombinant Protein Products for COG8:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
COG8 for ontologies About GeneDecksing
COG8 Antibody Products:
Assay Products for COG8: |
Protein
Domains /
Families
for COG8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
COG8 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96MW5ProtoNet protein and cluster: Q96MW5 1 Blocks protein family: IPB007255 Dor1-like protein
UniProtKB/Swiss-Prot: COG8_HUMAN, Q96MW5Similarity: Belongs to the COG8 family |
Function
for COG8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: COG8_HUMAN, Q96MW5Function: Required for normal Golgi function (By similarity)Phenotypes:
1 GenomeRNAi human phenotype for COG8:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COG8 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COG8 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: COG8 (NM_032382) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COG8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COG8 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COG8 |
|
Pathways & Interactions
for COG8 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COG8
STRING Interaction
Network Preview (showing 5 interactants - click image to see 18)
5/23 Interacting proteins for COG8 (Q96MW52, 3 ENSP000003054594) via UniProtKB, MINT, STRING, and/or I2D (see all 23)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0015031 | protein transport |
IEA | -- |
COG8 for ontologies About GeneDecksing
|
Drugs & Compounds
for COG8 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for COG8
Search CenterWatch for drugs/clinical trials and news about COG8
|
Transcripts
for COG8 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for COG8 gene: NM_032382.4 Unigene Cluster for COG8: Component of oligomeric golgi complex 8 Hs.130849 [show with all ESTs]Unigene Representative Sequence: NM_0323825 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000564419 ENST00000562595 ENST00000306875(uc002ewy.2) ENST00000562081
ENST00000567493
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COG8 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COG8 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: COG8 (NM_032382) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COG8 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COG8 |
Additional cDNA sequence: AF239156.1 AF322879.1 AK025968.1 AK056344.1 AK225391.1 AK302605.1 BC017492.1 BC019912.1 BC063831.1 BC121022.1 BC121023.1 22 DOTS entries: DT.92438398 DT.99940751 DT.308282 DT.100649300 DT.40221796 DT.100794074 DT.120680976 DT.110283 DT.100794078 DT.120680962 DT.95313064 DT.100025157 DT.120681129 DT.204175 DT.95318488 DT.120680982 DT.91681427 DT.91763586 DT.97839393 DT.97839394 DT.100769230 DT.120681231 24/266 AceView cDNA sequences (see all 266): BI333237 AA961230 AF239156 BM052973 BU195347 AW001656 CB163901 AW305385 NM_022341 AI554530 BU154340 CR606206 CR624787 AA372615 BQ430274 AI524240 BC017492 CD365950 AK056344 AL045195 AA953598 CB162629 H64835 CA771465
GeneLoc Exon Structure
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Expression
for COG8 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| COG8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGACTGGCAA
About this image
See COG8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COG8
SOURCE GeneReport for Unigene cluster: Hs.130849
SABiosciences Custom PCR Arrays for COG8
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COG8
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COG8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COG8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COG8 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COG8 |
Orthologs
for COG8 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for COG8 gene from 7/27 species (see all 27) About this table
ENSEMBL Gene Tree for COG8 (if available)
TreeFam Gene Tree for COG8 (if available) |
Paralogs
for COG8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for COG8 gene
- ENSG000002615762 ENSG000002603712
COG8 for paralogs About GeneDecksing
|
Genomic Variants
for COG8 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for COG8 (69354043 - 69373570 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for COG8: --
Human Gene Mutation Database (HGMD): COG8
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COG8 |
|
Disorders
/ Diseases
for COG8 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
COG8 for disorders About GeneDecksing
OMIM gene information: 606979
OMIM disorders: 611182
UniProtKB/Swiss-Prot: COG8_HUMAN, Q96MW5
Defects in COG8 are the cause of congenital disorder of glycosylation type 2H (CDG2H) [MIM:611182]. CDGs are afamily of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized byunder-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, suchas disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulationdisorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins duringembryonic development, differentiation, and maintenance of cell functions
5  diseases for COG8: About MalaCardscongenital disorder of glycosylation seizures hypotonia malaria
neuronitis
1 disease from the University of Copenhagen DISEASES database for COG8:Congenital disorder of glycosylation GeneTests: COG8
Congenital Disorders of Glycosylation
Export disorders for COG8 gene to outside databases
|
Publications
for COG8 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for COG8 gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with COG8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- COG8 deficiency causes new congenital disorder of glycosylation type IIh. (PubMed id 17331980)1, 2 Kranz C.... Freeze H.H. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. (PubMed id 11980916)1, 3 Ungar D....Waters M.G. (2002)
- The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic. (PubMed id 11703943)1, 2 Whyte J.R. and Munro S. (2001)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Successful COG8 and PDF overlap is mediated by alterat ions in splicing and polyadenylation signals. (PubMed id 21805148)1 Pereira-Castro I....Azevedo L. (2012)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
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External Searches for COG8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing COG8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing COG8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing COG8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for COG8 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for COG8 gene:
Search GeneIP for patents involving COG8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for COG8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for COG8 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COG8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COG8 | | | OriGene Protein Over-expression Lysate for COG8 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for COG8 | | OriGene 3'-UTR Clone for COG8 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COG8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COG8 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for COG8 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for COG8 | | OriGene Custom Protein Services for COG8 | | | OriGene Custom Immunoassay Development | | |
| |
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 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COG8 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COG8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COG8 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COG8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COG8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COG8 |
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| | | | Search Tocris compounds for COG8 |
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 | | | COG8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COG8 |
|  |  |  |  | | | | ThermoFisher Antibody for COG8 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COG8 |
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