CRB2

Chr 9

crumbs cell polarity complex component 2

Also known as: FSGS9, VMCKD

NCBI Gene: 286204ENSG00000148204UniProt: Q5IJ48

This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFocal segmental glomerulosclerosis 9
UniProtRetinitis pigmentosa
UniProtVentriculomegaly with cystic kidney disease

Clinical highlights

Gene-disease validity (ClinGen)
focal segmental glomerulosclerosis 9 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — CRB2
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 2.16
OE 0.65 (0.48–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.11Z-score
OE missense 0.89 (0.83–0.94)
662 obs / 747.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.48–0.89)
0≤0.351.4
Missense OE?0.89 (0.83–0.94)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 29 / 44.5Missense obs/exp: 662 / 747.1Syn Z: -0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CRB2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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