GENE REFERENCE / HGNC:8108

OCRL

OCRL inositol polyphosphate-5-phosphatase

protein-coding geneXq26.1Gene information

What does this gene do?

The OCRL gene provides instructions for making the enzyme OCRL, which is present in cells throughout the body. OCRL is part of a larger group of enzymes that modify fat (lipid) molecules known as membrane phospholipids. Phospholipids help form the basic structure of cell membranes.

OCRL is found in several areas within cells. It is concentrated in a complex network of membranes known as the trans-Golgi network, which sorts proteins and other molecules and sends them to their proper locations. OCRL is also found in endosomes, specialized compartments that help transport proteins and other molecules within the cell. The trans-Golgi network and endosomes play an important role in endocytosis, which is the process of transporting proteins from the outer cell membrane to the inside of the cell.

Endocytosis is especially important in proximal tubular cells. Proximal tubules are structures that are found in the kidneys. They help reabsorb proteins and other nutrients into the bloodstream. OCRL plays a key role in the kidneys' ability to reabsorb proteins and important nutrients.

Recent research suggests that OCRL is also involved in the formation of certain types of cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are important for the structure and function of many types of cells, including cells in the eyes and kidneys.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-04-13. Source review: 2026-04.

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
oculocerebrorenal syndromeMONDO:0010645 · Evaluated 2020-07-10	X-linked	DefinitiveIntellectual Disability and Autism 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: 1,309
Submissions for variants in or overlapping this gene: 1,789
Submissions explicitly reporting this gene: 1,565
Alleles reported pathogenic / likely pathogenic: 180
VariationIDs with uncertain significance: 290
VariationIDs with conflicting classifications: 47

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 OCRL?

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 180 alleles in OCRL 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 OCRL.

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

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