Gene
OCRL
OCRL inositol polyphosphate-5-phosphatase
- HGNC 8108(opens in a new tab)
- Ensembl gene ENSG00000122126(opens in a new tab)
- NCBI Gene 4952(opens in a new tab)
Summary
- Cytogenetic location
- Xq26.1
- Coordinates
- Chromosome X: 129,540,259–129,592,556 (GRCh38)
- Exons
- 24 exons across 52.3 kb
- Protein
- 901 amino acids
- Inheritance
- X-linked recessive
- Also known as
- OCRL1, Dent-2
- MANE Select transcript
- ENST00000371113.9NM_000276.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Dent Disease and Lowe Syndrome
- Lowe Syndrome (Oculocerebrorenal Syndrome)X-linked recessive
An X-linked condition caused by OCRL variants, with congenital cataracts, developmental delay and kidney tubule dysfunction in males.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
What knowing changes
Knowing guides eye, developmental and kidney care, and carrier females can be offered an eye examination.
- Dent DiseaseX-linked recessive
An X-linked kidney tubule disorder caused by variants in CLCN5 or OCRL, with low-molecular-weight proteinuria, high urine calcium, kidney stones and progressive chronic kidney disease in males.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows monitoring and measures to reduce urine calcium and slow kidney damage, and testing of female relatives who may be carriers.
Inheritance
- X-linked recessive
- The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.
How OCRL is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.2 kb of the gene's 52.3 kb; 2,706 of those bases code for the protein.
How a genome test reads OCRL
99
positions in OCRL where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (1%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 52.3 kb of OCRL, introns included, not only the 5.2 kb of exons.
Traits linked to OCRL
The Human Phenotype Ontology lists these as features of the rare conditions OCRL can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Frontal bossing
- Full cheeks
- Long face
- Sparse scalp hair
- Abnormal dentition
- Abnormal tooth enamel
- Big lower jaw
- Decreased number of teeth
Show 19 more traits
- Deep philtrum
- Delayed eruption of teeth
- Dental cavities
- Dental crowding
- Drooping lower lip
- Flat back of skull
- Gum disease
- Inflamed gums
- Inflammation of the lips
- Little lower jaw
- Long philtrum
- Narrow palate
- Odontogenic neoplasm
- Open bite
- Open mouth
- Taurodontia
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Thin dental enamel
Laboratory abnormality
- Elevated urine calcium levels
- Low-molecular-weight proteinuria
- Abnormal urinary amino-acid findings
- Dehydration
- High urine protein levels
- Low blood sodium levels
- Proximal renal tubular acidosis
- Abnormal circulating calcium-phosphate regulating hormone concentration
Show 17 more traits
- Deficient in vitamin D
- Elevated blood creatine phosphokinase
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Increased circulating lactate dehydrogenase concentration
- Joint swelling
- Low blood phosphate level
- Low blood potassium levels
- Blood in urine
- Elevated serum cholesterol
- Higher than normal levels of lactate in blood
- Hypoammonemia
- Oligosacchariduria
- Bicarbonaturia
- High urine phosphate levels
- Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts
- Renal Fanconi syndrome
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). OCRL gene: OCRL inositol polyphosphate-5-phosphatase. Retrieved 16 October 2026, from https://dantelabs.com/genes/ocrl
Dante Labs. OCRL gene: OCRL inositol polyphosphate-5-phosphatase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ocrl
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