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Aliases for COG8 Gene

Aliases for COG8 Gene

  • Component Of Oligomeric Golgi Complex 8 2 3 4 5
  • COG Complex Subunit 8 3 4
  • Conserved Oligomeric Golgi Complex Component 8 3
  • Dependent On RIC1 3
  • CDG2H 3
  • DOR1 3

External Ids for COG8 Gene

Previous GeneCards Identifiers for COG8 Gene

  • GC16U990224
  • GC16M069741
  • GC16M069092
  • GC16M069139
  • GC16M069140
  • GC16M067921
  • GC16M069361
  • GC16M069354

Summaries for COG8 Gene

Entrez Gene Summary for COG8 Gene

  • 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]

GeneCards Summary for COG8 Gene

COG8 (Component Of Oligomeric Golgi Complex 8) is a Protein Coding gene. Diseases associated with COG8 include Congenital Disorder Of Glycosylation, Type Iih and Accommodative Esotropia. Among its related pathways are Transport to the Golgi and subsequent modification and Golgi-to-ER retrograde transport. An important paralog of this gene is ENSG00000272617.

UniProtKB/Swiss-Prot for COG8 Gene

  • Required for normal Golgi function.

Gene Wiki entry for COG8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COG8 Gene

Genomics for COG8 Gene

Regulatory Elements for COG8 Gene

Enhancers for COG8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COG8 on UCSC Golden Path with GeneCards custom track

Promoters for COG8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COG8 on UCSC Golden Path with GeneCards custom track

Genomic Location for COG8 Gene

Chromosome:
16
Start:
69,320,140 bp from pter
End:
69,339,667 bp from pter
Size:
19,528 bases
Orientation:
Minus strand

Genomic View for COG8 Gene

Genes around COG8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COG8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COG8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COG8 Gene

Proteins for COG8 Gene

  • Protein details for COG8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MW5-COG8_HUMAN
    Recommended name:
    Conserved oligomeric Golgi complex subunit 8
    Protein Accession:
    Q96MW5
    Secondary Accessions:
    • Q0VAK2
    • Q8WVV6
    • Q9H6F8

    Protein attributes for COG8 Gene

    Size:
    612 amino acids
    Molecular mass:
    68424 Da
    Quaternary structure:
    • Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization.
    SequenceCaution:
    • Sequence=AAH17492.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15301.1; Type=Frameshift; Positions=371; Evidence={ECO:0000305};

neXtProt entry for COG8 Gene

Proteomics data for COG8 Gene at MOPED

Post-translational modifications for COG8 Gene

  • Ubiquitination at Lys 88 and Lys 558
  • Modification sites at PhosphoSitePlus

Other Protein References for COG8 Gene

No data available for DME Specific Peptides for COG8 Gene

Domains & Families for COG8 Gene

Gene Families for COG8 Gene

Protein Domains for COG8 Gene

Suggested Antigen Peptide Sequences for COG8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96MW5

UniProtKB/Swiss-Prot:

COG8_HUMAN :
  • Belongs to the COG8 family.
Family:
  • Belongs to the COG8 family.
genes like me logo Genes that share domains with COG8: view

Function for COG8 Gene

Molecular function for COG8 Gene

UniProtKB/Swiss-Prot Function:
Required for normal Golgi function.
genes like me logo Genes that share phenotypes with COG8: view

Human Phenotype Ontology for COG8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for COG8 Gene

miRTarBase miRNAs that target COG8

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for COG8 Gene

Localization for COG8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COG8 Gene

Golgi apparatus membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COG8 Gene COMPARTMENTS Subcellular localization image for COG8 gene
Compartment Confidence
golgi apparatus 5
cytosol 2
extracellular 1
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with COG8: view

Pathways & Interactions for COG8 Gene

genes like me logo Genes that share pathways with COG8: view

Gene Ontology (GO) - Biological Process for COG8 Gene

None

No data available for SIGNOR curated interactions for COG8 Gene

Drugs & Compounds for COG8 Gene

No Compound Related Data Available

Transcripts for COG8 Gene

Unigene Clusters for COG8 Gene

Component of oligomeric golgi complex 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COG8 Gene

No ASD Table

Relevant External Links for COG8 Gene

GeneLoc Exon Structure for
COG8
ECgene alternative splicing isoforms for
COG8

Expression for COG8 Gene

mRNA expression in normal human tissues for COG8 Gene

Protein differential expression in normal tissues from HIPED for COG8 Gene

This gene is overexpressed in Bone (62.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COG8 Gene



SOURCE GeneReport for Unigene cluster for COG8 Gene Hs.130849

genes like me logo Genes that share expression patterns with COG8: view

Protein tissue co-expression partners for COG8 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COG8 Gene

Orthologs for COG8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COG8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COG8 35
  • 87.42 (n)
  • 88.47 (a)
dog
(Canis familiaris)
Mammalia COG8 35
  • 89.58 (n)
  • 90.97 (a)
mouse
(Mus musculus)
Mammalia Cog8 35
  • 85.23 (n)
  • 89.46 (a)
Cog8 16
Cog8 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COG8 35
  • 99.49 (n)
  • 99.81 (a)
COG8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cog8 35
  • 85.62 (n)
  • 89.92 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves COG8 35
  • 73.35 (n)
  • 74.72 (a)
-- 36
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cog8 35
  • 68.5 (n)
  • 75.92 (a)
zebrafish
(Danio rerio)
Actinopterygii cog8 35
  • 70.83 (n)
  • 74.67 (a)
cog8 36
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6488 37
  • 44 (a)
CG6488 35
  • 53.91 (n)
  • 45.97 (a)
CG6488 36
  • 42 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011488 35
  • 52.63 (n)
  • 47.31 (a)
worm
(Caenorhabditis elegans)
Secernentea R02D3.2 37
  • 23 (a)
cogc-8 35
  • 40.47 (n)
  • 26.8 (a)
cogc-8 36
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COG8 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11980 35
  • 47.25 (n)
  • 37.39 (a)
rice
(Oryza sativa)
Liliopsida Os12g0538300 35
  • 46.91 (n)
  • 35.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for COG8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COG8 Gene

ENSEMBL:
Gene Tree for COG8 (if available)
TreeFam:
Gene Tree for COG8 (if available)

Paralogs for COG8 Gene

Paralogs for COG8 Gene

genes like me logo Genes that share paralogs with COG8: view

Variants for COG8 Gene

Sequence variations from dbSNP and Humsavar for COG8 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs3027 - 69,332,746(+) GAAAA(A/C)GGACT reference, missense
rs9924894 -- 69,333,482(+) GTTCT(G/T)AACTT intron-variant
rs715162 -- 69,336,355(-) TTATT(C/T)AAAAT intron-variant
rs16958756 -- 69,337,331(+) GTAAG(A/G)ACTAA intron-variant
rs877534 -- 69,334,093(+) ACTTG(A/C)ATGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COG8 Gene

Variant ID Type Subtype PubMed ID
nsv906820 CNV Loss 21882294
nsv827715 CNV Loss 20364138

Variation tolerance for COG8 Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.50; 55.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COG8 Gene

Human Gene Mutation Database (HGMD)
COG8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COG8 Gene

Disorders for COG8 Gene

MalaCards: The human disease database

(8) MalaCards diseases for COG8 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iih
  • congenital disorder of glycosylation 2h
accommodative esotropia
  • esotropia with accommodative compensation
anisometropia
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
esotropia
  • convergence in manifest squint
- elite association - COSMIC cancer census association via MalaCards
Search COG8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COG8_HUMAN
  • Congenital disorder of glycosylation 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. {ECO:0000269 PubMed:17331980}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COG8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COG8
genes like me logo Genes that share disorders with COG8: view

No data available for Genatlas for COG8 Gene

Publications for COG8 Gene

  1. COG8 deficiency causes new congenital disorder of glycosylation type IIh. (PMID: 17331980) Kranz C. … Freeze H.H. (Hum. Mol. Genet. 2007) 3 4 67
  2. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. (PMID: 11980916) Ungar D. … Waters M.G. (J. Cell Biol. 2002) 2 3
  3. TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma. (PMID: 26045774) Xu Y. … Zhou X. (Int J Clin Exp Pathol 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for COG8 Gene

Sources for COG8 Gene

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