OCRL

Chr X

OCRL inositol polyphosphate-5-phosphatase

Also known as: DENT2, Dent-2, LOCR, OCRL-1, OCRL1

NCBI Gene: 4952ENSG00000122126UniProt: Q01968

This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLowe oculocerebrorenal syndrome
UniProtDent disease 2

Clinical highlights

Gene-disease validity (ClinGen)
oculocerebrorenal syndrome · XLDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.15
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — OCRL
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.15LOEUF
pLI 1.000
Z-score 5.62
OE 0.05 (0.02–0.15)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.96Z-score
OE missense 0.55 (0.49–0.62)
194 obs / 350.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.05 (0.02–0.15)
0≤0.351.4
Missense OE?0.55 (0.49–0.62)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 2 / 40.7Missense obs/exp: 194 / 350.0Syn Z: 0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OCRL · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients