GENE REFERENCE / HGNC:9848

RANBP2

RAN binding protein 2

protein-coding gene2q13Gene information

What does this gene do?

The RANBP2 gene provides instructions for making a protein that typically associates with a protein complex known as the nuclear pore. The nuclear pore is embedded within the membrane that surrounds the cell's nucleus (called the nuclear envelope), forming a channel that allows transport of molecules in and out of the nucleus. The RANBP2 protein is attached to the nuclear pore outside of the nucleus, where it helps regulate the transport of proteins and other molecules through the nuclear pore and also helps modify proteins coming into or out of the nucleus.

When found elsewhere in the cell, the RANBP2 protein plays multiple roles during cell division, including breaking down and forming the nuclear envelope and dividing chromosomes. The RANBP2 protein is thought to associate with cell structures called microtubules, which form scaffolding within the cell to help cells maintain their shape. In conjunction with microtubules, the RANBP2 protein helps transport materials within cells.

In nerve cells in the brain, the RANBP2 protein is likely involved in the regulation of energy and the maintenance of the protective barrier that allows only certain substances to pass between blood vessels and the brain (the blood-brain barrier).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2016-07.

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
Leigh syndromeMONDO:0009723 · Evaluated 2021-06-30	Autosomal dominant	LimitedMitochondrial Diseases Gene Curation Expert Panel
familial acute necrotizing encephalopathyMONDO:0011953 · Evaluated 2024-04-02	Autosomal dominant	ModerateEpilepsy 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: 2,426
Submissions for variants in or overlapping this gene: 3,466
Submissions explicitly reporting this gene: 2,028
Alleles reported pathogenic / likely pathogenic: 106
VariationIDs with uncertain significance: 1,524
VariationIDs with conflicting classifications: 65

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 RANBP2?

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 106 alleles in RANBP2 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 RANBP2.

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

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