GENE REFERENCE / HGNC:14539

RNF213

ring finger protein 213

protein-coding gene17q25.3Gene information

What does this gene do?

The RNF213 gene provides instructions for making a protein whose role is unknown. The RNF213 protein, which is found in tissues throughout the body, contains specific regions (domains) that hint at possible functions. One domain, known as a RING finger, is found in proteins that have an enzyme activity known as E3 ubiquitin-protein ligase. Proteins with this activity target other proteins to be broken down (degraded) within cells. Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells. Proteins with a RING finger domain are involved in many different cellular functions, including cell growth and division, the transmission of chemical signals (signal transduction), and the self-destruction of cells (apoptosis).

The RNF213 protein also contains two regions called AAA+ ATPase domains. Proteins with these domains typically regulate mechanical processes in the cell, such as protein unfolding, DNA unwinding, or transporting molecules.

Although the function of the RNF213 protein is unknown, studies suggest that it plays a role in the proper development of blood vessels.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2015-04.

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: 1,249
Submissions for variants in or overlapping this gene: 1,980
Submissions explicitly reporting this gene: 1,826
Alleles reported pathogenic / likely pathogenic: 23
VariationIDs with uncertain significance: 432
VariationIDs with conflicting classifications: 49

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 RNF213?

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 23 alleles in RNF213 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 RNF213.

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

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