COG7

Chr 16AR

component of oligomeric golgi complex 7

Also known as: CDG2E

NCBI Gene: 91949 ENSG00000168434 UniProt: P83436 OMIM: 606978

The COG7 protein is a subunit of the conserved oligomeric Golgi (COG) complex that is required for normal Golgi morphology and function. Mutations cause congenital disorder of glycosylation type IIe, an autosomal recessive condition affecting protein glycosylation. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.661) and has detailed clinical information available in GeneReviews.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IIeMIM #608779

Clinical highlights

Gene-disease validity (ClinGen)

COG7-congenital disorder of glycosylation · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.66

LOEUF

LOF

Mechanism· G2P