CRB2

Chr 9q33.3

crumbs cell polarity complex component 2

Aliases:: FLJ38464, FLJ16786
MANE:: ENST00000373631.8

OMIM: 609720 ↗NCBI: 286204 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CRB2 · Q5IJ48

v62025-08-01

Predicted Aligned Error matrix for CRB2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.4/ 100

Confident

1,285 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)62%
Low(50–70)15%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

focal segmental glomerulosclerosis 9
0.80
ventriculomegaly-cystic kidney disease
0.79
familial idiopathic steroid-resistant nephrotic syndrome
0.52
hereditary disease
0.50
steroid-resistant nephrotic syndrome
0.45
neurodegenerative disease
0.42
Abnormality of the skeletal system
0.41
diabetic retinopathy
0.32
diabetic eye disease
0.32
plasma cell myeloma
0.31

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein crumbs homolog 2

Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo (By similarity). Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer (By similarity). The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress: cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-IIB (By similarity). Plays a role in the maintenance of retinal neuroepithelium organization, structural integrity, adhesion, photoreceptor polarity and retinal photoreceptor layer thickness (By similarity). May play a role in determining the length of cone photoreceptor outer segments and proliferation of late-born progenitor cells (By similarity). Also required for maintenance of the apical polarity complex during development of the cortex (By similarity). Inhibits gamma-secretase-dependent cleavage of APP and secretion of amyloid-beta peptide 40 and amyloid-beta peptide 42, and thereby inhibits gamma-secretase-dependent Notch transcription (PubMed:20299451)