Gene Gene information from NCBI Gene database.
Entrez ID 84342
Gene name Component of oligomeric golgi complex 8
Gene symbol COG8
Synonyms (NCBI Gene)
CDG2HDOR1
Chromosome 16
Chromosome location 16q22.1
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606979 18623 ENSG00000213380
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
ADFRGQLAPVFQRVAISTFQKAIQETVE
KFQEEMNSYMLISAPAILGTSNMPAAVPATQP
GTLQPPMVLLDFPPLACFLNNILVAFNDLRLCCPVALAQDVTGALEDALAKVTKIILAFH
RAEEAAFSSGEQELFVQFCTVFLEDLVPYLNRCLQVLFPPAQIAQTLGIPPTQLSKYGNL
GHVNIGAIQEPLAFILPKRETLFTLDDQALGPELTAPAPEPPAEEPRLEPAGPACPEGGR
AETQAEPPSVGP
Sequence length 612
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPI-mediated anterograde transport
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
COG8-congenital disorder of glycosylation Likely pathogenic; Pathogenic rs771045945, rs2143335414, rs121434387, rs1264383808, rs766244312, rs1597225261, rs1287837570, rs780534334 RCV003485867
RCV001420140
RCV000003832
RCV000003833
RCV000003834
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COG8-related disorder Likely pathogenic; Pathogenic rs766244312, rs201289118, rs780534334 RCV003407266
RCV003399757
RCV003399001
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COG8-CDG Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute encephalopathy Encephalopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Alternating esotropia Alternating esotropia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 26045774
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita BEFREE 30690882
★☆☆☆☆
Found in Text Mining only
Atrophy/Degeneration affecting the brainstem Brainstem Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26045774 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 26045774, 34539936 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Chronic axonal neuropathy Neuropathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Clinodactyly of fingers Clinodactyly HPO_DG
★☆☆☆☆
Found in Text Mining only