GENE REFERENCE / HGNC:23068

TRAPPC2

trafficking protein particle complex subunit 2

protein-coding geneXp22.2Gene information

What does this gene do?

The TRAPPC2 gene provides instructions for producing the protein sedlin, which is found in cells throughout the body. Sedlin is part of a large group of proteins called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between cell compartments (organelles). Sedlin is thought to be located between two organelles, the endoplasmic reticulum and the Golgi apparatus. The endoplasmic reticulum is involved in protein processing and transport, and the Golgi apparatus modifies newly produced proteins.

Research shows that sedlin is required for transporting large proteins from the endoplasmic reticulum to the Golgi apparatus. For example, sedlin is needed to move large molecules called procollagens out of the endoplasmic reticulum so they can be processed further by the Golgi apparatus. Later, procollagens are altered by enzymes outside the cell to create smaller mature collagen proteins, which strengthen and support connective tissues, such as skin, bone, cartilage, tendons, and ligaments.

Source: MedlinePlus, National Library of Medicine. Source publication: 2022-06-28. Source review: 2018-01.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

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: 364
Submissions for variants in or overlapping this gene: 419
Submissions explicitly reporting this gene: 225
Alleles reported pathogenic / likely pathogenic: 40
VariationIDs with uncertain significance: 79
VariationIDs with conflicting classifications: 3

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 TRAPPC2?

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 40 alleles in TRAPPC2 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 TRAPPC2.

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

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