CRB2 gene

crumbs 2, cell polarity complex component

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May play a role in polarized cells morphogenesis.

From NCBI Gene:

  • Ventriculomegaly with cystic kidney disease
  • Focal segmental glomerulosclerosis 9

From UniProt:

Focal segmental glomerulosclerosis 9 (FSGS9): A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. [MIM:616220]

Ventriculomegaly with cystic kidney disease (VMCKD): A severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis. [MIM:219730]

Cytogenetic Location: 9q33.3, which is the long (q) arm of chromosome 9 at position 33.3

Molecular Location: base pairs 123,354,065 to 123,380,335 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q33.3, which is the long (q) arm of chromosome 9 at position 33.3
  • FSGS9
  • VMCKD