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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
  • Conserved Oligomeric Golgi Complex Subunit 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
  • GC16M069320
  • GC16M069349
  • GC16M069429

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 Intra-Golgi traffic and Vesicle-mediated transport. An important paralog of this gene is ENSG00000260371.

UniProtKB/Swiss-Prot for COG8 Gene

  • Required for normal Golgi function.

Gene Wiki entry for COG8 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G069338 1.2 ENCODE 0.7 -0.1 -123 3.2 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B UTP4 SNTB2 NIP7 LOC400541 TMED6 PIR44456 COG8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000087410 -33 1801 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 TBX21

Genomic Location for COG8 Gene

Chromosome:
16
Start:
69,326,913 bp from pter
End:
69,339,667 bp from pter
Size:
12,755 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

Post-translational modifications for COG8 Gene

  • Ubiquitination at Lys88 and posLast=558558
  • Modification sites at PhosphoSitePlus

Other Protein References for COG8 Gene

ENSEMBL proteins:
REFSEQ proteins:

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.

Gene Ontology (GO) - Molecular Function for COG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with COG8: view
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

CRISPR Products

miRNA for COG8 Gene

miRTarBase miRNAs that target COG8

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COG8

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COG8 gene
Compartment Confidence
golgi apparatus 5
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for COG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA,IEA --
GO:0016020 membrane IEA,IDA 19946888
GO:0017119 Golgi transport complex NAS,IEA 11703943
GO:0032588 trans-Golgi network membrane TAS --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006891 intra-Golgi vesicle-mediated transport IBA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with COG8: view

No data available for SIGNOR curated interactions for COG8 Gene

Drugs & Compounds for COG8 Gene

No Compound Related Data Available

Transcripts for COG8 Gene

mRNA/cDNA for COG8 Gene

Unigene Clusters for COG8 Gene

Component of oligomeric golgi complex 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COG8

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for COG8 Gene

NURSA nuclear receptor signaling pathways regulating expression of COG8 Gene:

COG8

SOURCE GeneReport for Unigene cluster for COG8 Gene:

Hs.130849

Evidence on tissue expression from TISSUES for COG8 Gene

  • Nervous system(4)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COG8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Abdomen:
  • liver
General:
  • blood
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with COG8: view

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
chimpanzee
(Pan troglodytes)
Mammalia COG8 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia COG8 34
  • 89.58 (n)
cow
(Bos Taurus)
Mammalia COG8 34
  • 87.42 (n)
rat
(Rattus norvegicus)
Mammalia Cog8 34
  • 85.62 (n)
mouse
(Mus musculus)
Mammalia Cog8 34 16
  • 85.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 18 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 16 (a)
OneToMany
chicken
(Gallus gallus)
Aves COG8 34
  • 73.35 (n)
-- 35
  • 16 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 13 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cog8 34
  • 68.5 (n)
zebrafish
(Danio rerio)
Actinopterygii cog8 34 35
  • 70.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6488 36 34 35
  • 53.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011488 34
  • 52.63 (n)
worm
(Caenorhabditis elegans)
Secernentea cogc-8 34 35
  • 40.47 (n)
R02D3.2 36
  • 23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COG8 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11980 34
  • 47.25 (n)
rice
(Oryza sativa)
Liliopsida Os12g0538300 34
  • 46.91 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 9 (a)
OneToMany
Species where no ortholog for COG8 was found in the sources mined by GeneCards:
  • 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
rs121434387 Pathogenic 69,331,067(-) AAGTA(C/G/T)GGTAA upstream-variant-2KB, reference, synonymous-codon, stop-gained
rs1055399 Likely benign 69,328,876(-) TGGAG(G/T)AAGAT utr-variant-3-prime
rs1055401 Likely benign 69,328,874(-) GAGGA(A/T)GATGT utr-variant-3-prime
rs11542583 Likely benign 69,339,511(-) GCCAC(A/G/T)GCAGC upstream-variant-2KB, reference, synonymous-codon
rs113642086 Uncertain significance 69,335,337(+) ACTTC(A/G)TTCAC reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COG8

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

Disorders for COG8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iih
  • cog8-cdg
accommodative esotropia
  • esotropia with accommodative compensation
esotropia
  • convergence in manifest squint
anisometropia
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
- 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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. 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 64
  5. The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic. (PMID: 11703943) Whyte J.R. … Munro S. (Dev. Cell 2001) 3 4 64

Products for COG8 Gene

Sources for COG8 Gene

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