Gene: CRB2

Alternate names for this Gene: FSGS9|VMCKD

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q33.3

Description of this Gene: crumbs cell polarity complex component 2

Type of Gene: protein-coding

rs1105223 in CRB2 gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

rs765676223 in CRB2 gene and Cystic Kidney Disease with Ventriculomegaly PMID 25557780 2015 CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

rs879255250 in CRB2 gene and FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 PMID 25557779 2015 Defects of CRB2 cause steroid-resistant nephrotic syndrome.