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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CRB2
crumbs cell polarity complex component 2
Chromosome 9 Β· 9q33.3
NCBI Gene: 286204Ensembl: ENSG00000148204.13HGNC: HGNC:18688UniProt: Q5IJ48
36PubMed Papers
23Diseases
0Drugs
43Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complexnegative regulation of endopeptidase activityextracellular exosomeprotein-containing complex bindingventriculomegaly-cystic kidney diseasefocal segmental glomerulosclerosis 9focal segmental glomerulosclerosisgenetic disorder
✦AI Summary

CRB2 is an apical polarity protein that maintains epithelial cell organization and functions across multiple tissues. In the retina, CRB2 co-localizes and forms homo- and heteromeric complexes with CRB1, playing essential roles in photoreceptor organization, layer thickness, and structural integrity 1. CRB2 also contributes to retinal homeostasis through mechanisms that may determine cone photoreceptor outer segment length 1. In developing tissues, CRB2 promotes epithelial-to-mesenchymal transition during gastrulation by facilitating cell ingression into the embryo [UniProt]. CRB2 maintains apical polarity complexes during cortical development and plays a critical role in podocyte mechanotransduction; CRB2 depletion impairs mechanosensing through disrupted YAP signaling and enhanced contractility at low substrate stiffness 2. Pathogenic CRB2 variants cause CRB2-related syndrome, characterized by ventriculomegaly, nephrotic syndrome, and cardiac abnormalities 34. CRB2 mutations cause steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis through podocyte dysfunction 2. CRB2 is also associated with retinitis pigmentosa 1. Beyond developmental roles, CRB2 acts as an epigenetic ferroptosis regulator in head and neck squamous cell carcinoma, with CRB2 upregulation correlating with improved prognosis and sensitizing cancer cells to ferroptosis 5.

Sources cited
1
CRB1 and CRB2 co-localize in human retina and form stable protein complexes; supports retinal function
PMID: 38570189
2
CRB2 depletion induces YAP signaling and impairs podocyte mechanosensing in FSGS
PMID: 40062402
3
CRB2 pathogenic variants cause CRB2-related syndrome with ventriculomegaly, nephrotic syndrome, and cardiac findings
PMID: 36071576
4
CRB2 variants cause ventricomegaly, renal disease, and steroid-resistant nephrotic syndrome
PMID: 27004616
5
CRB2 functions as an epigenetic ferroptosis regulator in head and neck squamous cell carcinoma
PMID: 40991301
Disease Associationsβ“˜23
ventriculomegaly-cystic kidney diseaseOpen Targets
0.81Strong
focal segmental glomerulosclerosis 9Open Targets
0.80Strong
focal segmental glomerulosclerosisOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.50Moderate
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.45Moderate
steroid-resistant nephrotic syndromeOpen Targets
0.45Moderate
Abnormality of the skeletal systemOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
diabetic eye diseaseOpen Targets
0.33Weak
diabetic retinopathyOpen Targets
0.33Weak
multiple myelomaOpen Targets
0.33Weak
metabolic syndromeOpen Targets
0.28Weak
retinitis pigmentosaOpen Targets
0.24Weak
obesityOpen Targets
0.15Weak
Joubert syndrome 17Open Targets
0.12Weak
Epiretinal membraneOpen Targets
0.09Suggestive
neuroinflammatory disorderOpen Targets
0.09Suggestive
risk-taking behaviourOpen Targets
0.09Suggestive
retinopathyOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
Focal segmental glomerulosclerosis 9UniProt
Retinitis pigmentosaUniProt
Ventriculomegaly with cystic kidney diseaseUniProt
Pathogenic Variants43
NM_173689.7(CRB2):c.592dup (p.Thr198fs)Pathogenic
not provided|Focal segmental glomerulosclerosis 9
β˜…β˜…β˜†β˜†2025β†’ Residue 198
NM_173689.7(CRB2):c.3089_3104del (p.Arg1030fs)Pathogenic
not provided|CRB2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1030
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)Pathogenic
Focal segmental glomerulosclerosis 9|not provided|Steroid-resistant nephrotic syndrome|Inborn genetic diseases|Ventriculomegaly-cystic kidney disease;Focal segmental glomerulosclerosis 9|CRB2-related disorder|Autosomal recessive CRB2-related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 1036
NM_173689.7(CRB2):c.823C>T (p.Arg275Ter)Pathogenic
Ventriculomegaly-cystic kidney disease|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 275
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys)Pathogenic
Ventriculomegaly-cystic kidney disease|not provided|Familial idiopathic steroid-resistant nephrotic syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 800
NM_173689.7(CRB2):c.2445_2446del (p.Cys816fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 816
NM_173689.7(CRB2):c.2277G>A (p.Trp759Ter)Pathogenic
Ventriculomegaly-cystic kidney disease|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 759
NM_173689.7(CRB2):c.315C>A (p.Cys105Ter)Pathogenic
not provided|Ventriculomegaly-cystic kidney disease;Focal segmental glomerulosclerosis 9
β˜…β˜…β˜†β˜†2022β†’ Residue 105
NM_173689.7(CRB2):c.635del (p.Gly212fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 212
NM_173689.7(CRB2):c.1205_1230dup (p.Cys411fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 411
NM_173689.7(CRB2):c.3149del (p.Pro1050fs)Likely pathogenic
Ventriculomegaly-cystic kidney disease
β˜…β˜†β˜†β˜†2025β†’ Residue 1050
NM_173689.7(CRB2):c.1140T>A (p.Tyr380Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 380
NM_173689.7(CRB2):c.1186C>T (p.Gln396Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 396
NM_173689.7(CRB2):c.1006C>T (p.Gln336Ter)Pathogenic
Focal segmental glomerulosclerosis 9
β˜…β˜†β˜†β˜†2025β†’ Residue 336
NM_173689.7(CRB2):c.445G>T (p.Glu149Ter)Pathogenic
Focal segmental glomerulosclerosis 9
β˜…β˜†β˜†β˜†2024β†’ Residue 149
NM_173689.7(CRB2):c.3065_3086dup (p.Arg1030fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1030
NM_173689.7(CRB2):c.793dup (p.Cys265fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 265
NM_173689.7(CRB2):c.3613G>A (p.Gly1205Ser)Pathogenic
Focal segmental glomerulosclerosis 9|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1205
NM_173689.7(CRB2):c.1266del (p.Ser421_Tyr422insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 421
NM_173689.7(CRB2):c.3262G>A (p.Gly1088Ser)Likely pathogenic
Focal segmental glomerulosclerosis 9
β˜…β˜†β˜†β˜†2024β†’ Residue 1088
View on ClinVar β†—
Related Genes
H2AC20Protein interaction100%H2AC18Protein interaction100%TP53BP1Protein interaction100%EPB41Protein interaction100%PATJProtein interaction100%EPB41L5Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
98%
Ovary
4%
Liver
2%
Lung
1%
Heart
0%
Gene Interaction Network
Click a node to explore
CRB2H2AC20H2AC18TP53BP1EPB41PATJEPB41L5
PROTEIN STRUCTURE
Preparing viewer…
PDB2WO6 Β· 2.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.00 [0.84–1.20]
RankingsWhere CRB2 stands among ~20K protein-coding genes
  • #10,759of 20,598
    Most Researched36
  • #1,476of 5,498
    Most Pathogenic Variants43
  • #12,626of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedCRB2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mechanism-driven biomarkers to guide immune checkpoint blockade in cancer therapy.
PMID: 27079802
Nat Rev Cancer Β· 2016
1.00
2
Familial Pancreatic Cancer.
PMID: 36153110
Gastroenterol Clin North Am Β· 2022
0.90
3
Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.
PMID: 38570189
Life Sci Alliance Β· 2024
0.80
4
Characterization and AAV-mediated
PMID: 37886604
Mol Ther Methods Clin Dev Β· 2023
0.70
5
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
PMID: 36071576
Clin Genet Β· 2023
0.60