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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
  • GC16M069437
  • GC16M069445

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 Metabolism of proteins. 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for COG8 Gene

Promoters and enhancers for COG8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I069338 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.1 -122 3.2 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF416 ZNF143 SP3 SSRP1 ZNF610 NIP7 PIR44456 COG8 SNTB2 NONOP1 LOC400541 CHTF8 NFAT5 DDX19B PDXDC2P-NPIPB14P
GH16I069328 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 0.4 +9.7 9707 3.3 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 PDF PIR46379 UTP4 SNTB2 NIP7 TMED6 PIR53878 COG8
GH16I069325 Enhancer 1.1 Ensembl ENCODE 0.4 +12.8 12773 2.3 FOXA2 ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZNF121 RXRA ZHX2 MXD4 GC16M069465 PIR50457 PIR53878 PIR53140 PIR43287 PIR31148 UTP4 TMED6 NIP7 CHTF8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COG8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COG8 gene promoter:

Genomic Locations for COG8 Gene

Genomic Locations for COG8 Gene
chr16:69,326,913-69,339,667
(GRCh38/hg38)
Size:
12,755 bases
Orientation:
Minus strand
chr16:69,354,043-69,373,570
(GRCh37/hg19)

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 Lys558
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Disease related genes
  • Plasma proteins

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

miRNA for COG8 Gene

miRTarBase miRNAs that target COG8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

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 IDA,HDA 19946888
GO:0017119 Golgi transport complex NAS,IBA 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:

Clone Products

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
Regions:
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

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 33
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia COG8 33
  • 89.58 (n)
cow
(Bos Taurus)
Mammalia COG8 33
  • 87.42 (n)
rat
(Rattus norvegicus)
Mammalia Cog8 33
  • 85.62 (n)
mouse
(Mus musculus)
Mammalia Cog8 33 16
  • 85.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 18 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 16 (a)
OneToMany
chicken
(Gallus gallus)
Aves COG8 33
  • 73.35 (n)
-- 34
  • 16 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 13 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cog8 33
  • 68.5 (n)
zebrafish
(Danio rerio)
Actinopterygii cog8 33 34
  • 70.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6488 35 33 34
  • 53.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011488 33
  • 52.63 (n)
worm
(Caenorhabditis elegans)
Secernentea cogc-8 33 34
  • 40.47 (n)
R02D3.2 35
  • 23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COG8 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11980 33
  • 47.25 (n)
rice
(Oryza sativa)
Liliopsida Os12g0538300 33
  • 46.91 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1055399 likely-benign, Congenital disorder of glycosylation 69,328,876(-) C/A 3_prime_UTR_variant
rs1055401 likely-benign, Congenital disorder of glycosylation 69,328,874(-) T/A 3_prime_UTR_variant
rs113642086 conflicting-interpretations-of-pathogenicity, uncertain-significance, not specified, Congenital disorder of glycosylation 69,335,337(-) G/A coding_sequence_variant, synonymous_variant
rs114861924 benign, not provided, not specified, Congenital disorder of glycosylation type 2H 69,331,089(-) G/A coding_sequence_variant, missense_variant
rs11542583 benign, likely-benign, not specified, Congenital disorder of glycosylation 69,339,511(-) T/A/C/G coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for COG8 Gene

Human Gene Mutation Database (HGMD)
COG8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COG8

SNP Genotyping and Copy Number Assay Products

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

Disorders for COG8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iih
  • cdg2h
accommodative esotropia
  • esotropia with accommodative compensation
anisometropia
episodic ataxia, type 2
  • ea2
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.

Additional Disease Information for 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 HH (Human molecular genetics 2007) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. (PMID: 11980916) Ungar D … Waters MG (The Journal of cell biology 2002) 2 3 58
  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 JR … Munro S (Developmental cell 2001) 3 4 58

Products for COG8 Gene

Sources for COG8 Gene

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