Recombinant Human Crumbs homolog 2 (CRB2), partial

1. Case Report: steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation. PMID: 29473663
2. These findings demonstrate that Crb2 abnormalities caused by these mutations are the mechanism of steroid-resistant nephrotic syndrome PMID: 27942854
3. Clinically, CRB2 should be assessed when ciliopathy is suspected, especially in Ashkenazi Jews, where we found that p.N800K carrier frequency is 1 of 64. Patients harboring CRB2 mutations should be tested for the complete range of ciliopathy manifestations. PMID: 26925547
4. Additional sequence variants in genes involved in kidney development were found in patients with CRB2-related syndrome, suggesting that these variants may modify the phenotype. PMID: 27004616
5. We demonstrate that CRB2 mutations result in loss of function and therefore constitute causative mutations leading to Nephrotic syndrome in humans. PMID: 25557779
6. The three families with six affected individuals present compelling evidence for the role of CRB2 in human disease, with a phenotype comprising severe, congenital neurological and renal involvement. PMID: 25557780
7. Study showed that CRB1 and CRB2 in human retinas have an opposite pattern of expression in Muller glia and photoreceptor cells compared with mouse retinas, and that Crb2 influences the severity of the murine Crb1-linked retinal dystrophies. PMID: 24565864
8. Observational study of gene-disease association. (HuGE Navigator) PMID: 20583170
9. results suggest that CRB2 functions as an inhibitory binding protein that is involved in the formation of a mature but inactive pool of the gamma-secretase complex PMID: 20299451
10. Crumbs homolog 2 gene maps to human chromosome 9q33.3 PMID: 14767562
11. This study shows that CRB2 sequence variants are not a common cause of autosomal recessive RP and LCA. PMID: 15851977
12. Using X-ray crystallography and NMR spectroscopy, we show that, despite low amino acid sequence conservation, both 53BP1 and Crb2 contain tandem tudor domains that interact with histone H4 specifically dimethylated at Lys20 (H4-K20me2). PMID: 17190600
13. overexpression of human CRB1 and related isoforms, CRB2 and CRB3, had no effect on the levels of presenilin complex components, on NCT maturation or on PS endoproteolysis PMID: 17988153
14. The CRB2 gene encodes a transmembrane protein (1285 aa) and a secreted protein (1176 aa). The transmembrane isoform consists of 14 extracellular EGF-like domains, 3 extracellular laminin G-like domains, and a Crb cytoplasmic tail domain. PMID: 14767562

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HGNC: 18688

OMIM: 219730

KEGG: hsa:286204

STRING: 9606.ENSP00000362734

UniGene: Hs.568340