COG5 component of oligomeric golgi complex 5
Gene ID: 10466, updated on 5-Mar-2024Gene type: protein coding
Also known as: CDG2I; GTC90; GOLTC1
- See all available tests in GTR for this gene
- Go to complete Gene record for COG5
- Go to Variation Viewer for COG5 variants
Summary
The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. GeneReviews: Not available | |
| COG5-congenital disorder of glycosylation MedGen: C3150876OMIM: 613612GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | See labs |
Genomic context
- Location:
- 7q22.3
- Sequence:
- Chromosome: 7; NC_000007.14 (107201372..107563920, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COG5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- COG5 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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