GENE REFERENCE / HGNC:18620

COG4

component of oligomeric golgi complex 4

protein-coding gene16q22.1Gene information

What does this gene do?

The COG4 gene provides instructions for making a protein called component of oligomeric Golgi complex 4 (COG4). As its name suggests, COG4 is one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex is important for maintaining normal functions in the Golgi apparatus, which is a cell structure in which newly produced proteins are modified so they can carry out their functions. An example of a protein modification process that occurs in the Golgi apparatus is glycosylation, by which sugar molecules (oligosaccharides) are attached to proteins and fats. Glycosylation modifies proteins so they can perform a wider variety of functions.

The COG complex plays an important role in a process called retrograde transport, through which proteins are moved from the Golgi apparatus to another cellular structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape. This transport pathway is called retrograde because it is in reverse order of the usual process for newly produced proteins. New proteins undergo initial processing in the endoplasmic reticulum then move to the Golgi apparatus for further modification before being released from the cell (secreted). Retrograde transport is important for sending unneeded proteins to the endoplasmic reticulum to get recycled and for relocating misplaced proteins within the cell.

For retrograde transport, proteins first must be incorporated into sac-like structures called vesicles that get attached to the Golgi apparatus membrane. The COG complex controls the attachment (tethering) of the vesicles to the Golgi membrane in preparation for transport. Once the proteins are incorporated, the vesicles detach and carry the proteins to the endoplasmic reticulum.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2020-04.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
microcephalic osteodysplastic dysplasia, Saul-Wilson typeMONDO:0019407 · Evaluated 2023-06-05	Autosomal dominant	DefinitiveSkeletal Disorders Gene Curation Expert Panel
COG4-congenital disorder of glycosylationMONDO:0013281 · Evaluated 2023-05-17	Autosomal recessive	ModerateCongenital Disorders of Glycosylation Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 557
Submissions for variants in or overlapping this gene: 839
Submissions explicitly reporting this gene: 768
Alleles reported pathogenic / likely pathogenic: 45
VariationIDs with uncertain significance: 288
VariationIDs with conflicting classifications: 15

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about COG4?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 45 alleles in COG4 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in COG4.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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