CRB2 Chromosome 9
Crumbs cell polarity complex component 2
Upload your DNA to see your personal genotypes for variants in CRB2.
What This Gene Does
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]
Gene Info
Gene Group
Crumbs complex components
Locus Type
gene with protein product
Location
9q33.3
Ensembl
ENSG00000148204
Associated Conditions (11)
Inborn genetic diseases
CRB2-related disorder
Focal segmental glomerulosclerosis 9
Ventriculomegaly-cystic kidney disease
Obesity
Immunodeficiency
common variable
7
Familial idiopathic steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome
Autosomal recessive CRB2-related disorders
Key Variants
RS1016336000
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS113157023
Conflicting classifications of pathogenicity
Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases
Health Risk
RS138853172
Conflicting classifications of pathogenicity
Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases
Health Risk
RS140903037
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141610287
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1443443959
Conflicting classifications of pathogenicity
Health Risk
RS144365725
Conflicting classifications of pathogenicity
Health Risk
RS144803819
Conflicting classifications of pathogenicity
CRB2-related disorder, CRB2-related disorder
Health Risk
RS145948620
Conflicting classifications of pathogenicity
Health Risk
RS146271715
Conflicting classifications of pathogenicity
CRB2-related disorder, CRB2-related disorder
Health Risk
RS147412276
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 9, Inborn genetic diseases, Focal segmental glomerulosclerosis 9
Health Risk
RS148397660
Conflicting classifications of pathogenicity
Inborn genetic diseases, Focal segmental glomerulosclerosis 9, Ventriculomegaly-cystic kidney disease
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1016336000 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS113157023 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases |
| RS138853172 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases |
| RS140903037 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141610287 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1443443959 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144365725 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144803819 | Health Risk | Conflicting classifications of pathogenicity | CRB2-related disorder, CRB2-related disorder |
| RS145948620 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146271715 | Health Risk | Conflicting classifications of pathogenicity | CRB2-related disorder, CRB2-related disorder |
| RS147412276 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 9, Inborn genetic diseases, Focal segmental glomerulosclerosis 9 |
| RS148397660 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Focal segmental glomerulosclerosis 9, Ventriculomegaly-cystic kidney disease |
| RS149901147 | Health Risk | Conflicting classifications of pathogenicity | CRB2-related disorder, CRB2-related disorder |
| RS150339335 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases |
| RS150487212 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases |
| RS150489375 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199630307 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199695001 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 9, CRB2-related disorder, Inborn genetic diseases |
| RS200091031 | Health Risk | Conflicting classifications of pathogenicity | CRB2-related disorder, CRB2-related disorder |
| RS2132756010 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2550687725 | Health Risk | Conflicting classifications of pathogenicity | Ventriculomegaly-cystic kidney disease, Ventriculomegaly-cystic kidney disease |
| RS35578485 | Health Risk | Conflicting classifications of pathogenicity | CRB2-related disorder, Obesity, CRB2-related disorder |
| RS371211000 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases |
| RS529201914 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS537615209 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS537738396 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Focal segmental glomerulosclerosis 9, CRB2-related disorder |
| RS543547663 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Focal segmental glomerulosclerosis 9, CRB2-related disorder |
| RS55951681 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS560877883 | Health Risk | Conflicting classifications of pathogenicity | CRB2-related disorder, CRB2-related disorder |
| RS575676072 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases |
| RS61740212 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases |
| RS730880300 | Health Risk | Conflicting classifications of pathogenicity | Ventriculomegaly-cystic kidney disease, Ventriculomegaly-cystic kidney disease |
| RS74778545 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases |
| RS750162087 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753016438 | Health Risk | Conflicting classifications of pathogenicity | CRB2-related disorder, Focal segmental glomerulosclerosis 9, Ventriculomegaly-cystic kidney disease |
| RS758341965 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759937525 | Health Risk | Conflicting classifications of pathogenicity | Ventriculomegaly-cystic kidney disease, Focal segmental glomerulosclerosis 9, Inborn genetic diseases |
| RS766137006 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766470795 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767416221 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767432277 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CRB2-related disorder, Inborn genetic diseases |
| RS773704775 | Health Risk | Conflicting classifications of pathogenicity | Ventriculomegaly-cystic kidney disease, Ventriculomegaly-cystic kidney disease |
| RS112885646 | Health Risk | Likely pathogenic | CRB2-related disorder, CRB2-related disorder |
| RS1219047251 | Health Risk | Likely pathogenic | CRB2-related disorder, CRB2-related disorder |
| RS1225230645 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis 9, Ventriculomegaly-cystic kidney disease, Focal segmental glomerulosclerosis 9 |
| RS1588200023 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis 9, Focal segmental glomerulosclerosis 9 |
| RS762496290 | Health Risk | Likely pathogenic | — |
| RS770448714 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis 9, Focal segmental glomerulosclerosis 9 |
| RS899356265 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis 9, Focal segmental glomerulosclerosis 9 |
| RS1064793849 | Health Risk | Pathogenic | CRB2-related disorder, CRB2-related disorder |