COG8 (component of oligomeric golgi complex 8)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84342
Gene name Gene Name - the full gene name approved by the HGNC.
Component of oligomeric golgi complex 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COG8
Synonyms (NCBI Gene) Gene synonyms aliases
CDG2H, DOR1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez 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 modificatio
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs72795277 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs113642086 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Synonymous variant, coding sequence variant
rs779899559 G>A,C Likely-pathogenic Coding sequence variant, stop gained, missense variant
rs890271209 A>C,G Likely-pathogenic Missense variant, stop gained, coding sequence variant
rs1597225261 C>A Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(154)
miRTarBase ID miRNA Experiments Reference
MIRT045035 hsa-miR-186-5p CLASH 23622248
MIRT902324 hsa-miR-145 CLIP-seq
MIRT902325 hsa-miR-182 CLIP-seq
MIRT902326 hsa-miR-187 CLIP-seq
MIRT902327 hsa-miR-2110 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane NAS 27066481
GO:0000139 Component Golgi membrane TAS
GO:0000301 Process Retrograde transport, vesicle recycling within Golgi IMP 27066481
GO:0005515 Function Protein binding IPI 25416956, 26871637, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606979 18623 ENSG00000213380
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96MW5
Protein name Conserved oligomeric Golgi complex subunit 8 (COG complex subunit 8) (Component of oligomeric Golgi complex 8)
Protein function Required for normal Golgi function.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04124 Dor1 50 → 388 Dor1-like family Family
Sequence 
MATAATIPSVATATAAALGEVEDEGLLASLFRDRFPEAQWRERPDVGRYLRELSGSGLER
LRREPERLAEERAQLLQQTRDLAFANYKTFIRGAECTERIHRLFGDVEASLGRLLDRLPS
FQQSCRNFVKEAEEISSNRRMNSLTLNRHTEILEILEIPQLMDTCVRNSYYEEALELAAY
VRRLERKYSSIPVIQGIVNEVRQSMQLMLSQLIQQLRTNIQLPACLRVIGYLRRMDVFTE
AELRVKFLQARDAWLRSILTAIPNDDPYFHITKTIEASRVHLFDIITQYRAIFSDEDPLL
PPAMGEHTVNESAIFHGWVLQKVSQFLQVLETDLYRGIGGHLDSLLGQCMYFGLSFSRVG
ADFRGQLAPVFQRVAISTFQKAIQETVEKFQEEMNSYMLISAPAILGTSNMPAAVPATQP
GTLQPPMVLLDFPPLACFLNNILVAFNDLRLCCPVALAQDVTGALEDALAKVTKIILAFH
RAEEAAFSSGEQELFVQFCTVFLEDLVPYLNRCLQVLFPPAQIAQTLGIPPTQLSKYGNL
GHVNIGAIQEPLAFILPKRETLFTLDDQALGPELTAPAPEPPAEEPRLEPAGPACPEGGR
AETQAEPPSVGP
Sequence length 612
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    COPI-mediated anterograde transport
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Disorder Of Glycosylation COG8-congenital disorder of glycosylation rs1264383808, rs766244312, rs1597225261, rs121434387 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 26045774
Carcinoma Non Small Cell Lung Associate 26045774
Carcinoma Renal Cell Associate 26045774, 34539936
Colorectal Neoplasms Associate 26045774
Congenital Disorder Of Glycosylation Type In Associate 37083278
Congenital Disorders of Glycosylation Associate 37083278
Esophageal Neoplasms Associate 26045774
Multiple Organ Failure Associate 19690088
Nervous System Diseases Associate 19690088
Stomach Neoplasms Associate 26045774