GENE REFERENCE / HGNC:9958

REN

renin

protein-coding gene1q32.1Gene information

What does this gene do?

The REN gene provides instructions for making a protein called renin, which is produced in the kidneys. This protein is part of the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body. In the first step of this process, renin converts a protein called angiotensinogen into angiotensin I. Through an additional step, angiotensin I is converted to angiotensin II. Angiotensin II causes blood vessels to narrow (constrict), which results in increased blood pressure. Angiotensin II also stimulates production of the hormone aldosterone, which triggers the absorption of water and salt by the kidneys. The increased amount of fluid in the body also increases blood pressure. Proper blood pressure during fetal growth, which delivers oxygen to the developing tissues, is required for normal development of the kidneys, particularly of structures called the proximal tubules, and other tissues. In addition, angiotensin II may play a more direct role in kidney development, perhaps by affecting growth factors involved in development of kidney structures.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2013-05.

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
renal tubular dysgenesis of genetic originMONDO:0009970 · Evaluated 2020-10-28	Autosomal recessive	DefinitiveKidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel
familial juvenile hyperuricemic nephropathy type 2MONDO:0013128 · Evaluated 2020-10-28	Autosomal dominant	DefinitiveKidney Cystic and Ciliopathy Disorders 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: 294
Submissions for variants in or overlapping this gene: 498
Submissions explicitly reporting this gene: 461
Alleles reported pathogenic / likely pathogenic: 26
VariationIDs with uncertain significance: 143
VariationIDs with conflicting classifications: 23

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 REN?

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 26 alleles in REN 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 REN.

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

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