COG5

Chr 7AR

component of oligomeric golgi complex 5

Also known as: CDG2I, GOLTC1, GTC90

NCBI Gene: 10466 ENSG00000164597 UniProt: Q9UP83 OMIM: 606821

COG5 encodes a component of the conserved oligomeric Golgi (COG) complex that is required for normal Golgi morphology and function as part of the cellular protein glycosylation machinery. Mutations cause congenital disorder of glycosylation type IIi, inherited in an autosomal recessive pattern. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.961 OMIM phenotype

Clinical Summary— COG5

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Gene-Disease Validity (ClinGen)

COG5-congenital disorder of glycosylation · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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