GENE REFERENCE / HGNC:30605

SEPSECS

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

protein-coding gene4p15.2Gene information

What does this gene do?

The SEPSECS gene provides instructions for making an enzyme known as SepSecS. This enzyme is involved in the formation of a molecule called a transfer RNA (tRNA), which is a chemical cousin of DNA that is needed for building proteins. This particular tRNA plays a critical role in the production of a protein building block (amino acid) called selenocysteine (Sec). Selenocysteine contains the chemical element selenium, which is an essential nutrient obtained from the diet.

Proteins that contain selenocysteine are called selenoproteins. Researchers have identified about 25 human selenoproteins with diverse functions. For example, these proteins are involved in antioxidant reactions, which protect cells against compounds called reactive oxygen species that can damage DNA, proteins, and cell membranes. Selenoproteins also play a role in turning on (activating) thyroid hormones and are involved in immune system function and the production of sperm cells. Additionally, studies suggest that selenoproteins are critical for normal brain development and for the function of nerve cells (neurons).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2014-11.

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: 739
Submissions for variants in or overlapping this gene: 1,032
Submissions explicitly reporting this gene: 989
Alleles reported pathogenic / likely pathogenic: 119
VariationIDs with uncertain significance: 200
VariationIDs with conflicting classifications: 19

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 SEPSECS?

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 119 alleles in SEPSECS 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 SEPSECS.

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

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