CRB2

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]

Description

Crumbs cell polarity complex component 2

Tissue specificity

Group enriched (brain, choroid plexus, kidney, retina)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (123356170 - 123380324)

Ensembl ID

ENSG00000148204  (ver. 103.38)

Orthologs

Mouse Crb2: ENSMUSG00000035403

UniProt

Q5IJ48

neXtProt

NX_Q5IJ48

Human splice variants
Mouse splice variants

Protein structure