Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 286204
MIM: 609720
HGNC: 18688
Ensembl: ENSG00000148204
Variants:
dbSNP: 286204
ClinVar: 286204
TCGA: ENSG00000148204
COSMIC: CRB2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000148204 | ENST00000359999 | Q5IJ48 |
| ENSG00000148204 | ENST00000373631 | Q5IJ48 |
| ENSG00000148204 | ENST00000460253 | Q5IJ48 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Hippo signaling pathway | KEGG | hsa04390 |
| Hippo signaling pathway | KEGG | ko04390 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38570189 | 2024 | Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. | 1 |
| 38570189 | 2024 | Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. | 1 |
| 36549870 | 2023 | Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies. | 0 |
| 36803301 | 2023 | Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla. | 2 |
| 36549870 | 2023 | Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies. | 0 |
| 36803301 | 2023 | Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla. | 2 |
| 35219647 | 2022 | CRB2 enhances malignancy of glioblastoma via activation of the NF-κB pathway. | 3 |
| 36556986 | 2022 | Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome. | 0 |
| 35219647 | 2022 | CRB2 enhances malignancy of glioblastoma via activation of the NF-κB pathway. | 3 |
| 36556986 | 2022 | Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome. | 0 |
| 34654837 | 2021 | Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis. | 6 |
| 34654837 | 2021 | Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis. | 6 |
| 30593785 | 2019 | CRB2 mutation causes autosomal recessive retinitis pigmentosa. | 13 |
| 30956116 | 2019 | Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5. | 46 |
| 30593785 | 2019 | CRB2 mutation causes autosomal recessive retinitis pigmentosa. | 13 |
Citation
Dessen P
CRB2 (crumbs cell polarity complex component 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-03-01
Online version: http://atlasgeneticsoncology.org/gene/53813/crb2-(crumbs-cell-polarity-complex-component-2)
