CRB2 (crumbs cell polarity complex component 2)

2014-03-01  

Identity

HGNC
LOCATION
9q33.3
LOCUSID
ALIAS
FSGS9,VMCKD

Other Information

Locus ID:

NCBI: 286204
MIM: 609720
HGNC: 18688
Ensembl: ENSG00000148204

Variants:

dbSNP: 286204
ClinVar: 286204
TCGA: ENSG00000148204
COSMIC: CRB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148204ENST00000359999Q5IJ48
ENSG00000148204ENST00000373631Q5IJ48
ENSG00000148204ENST00000460253Q5IJ48

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
171906002006Structural basis for the methylation state-specific recognition of histone H4-K20 by 53BP1 and Crb2 in DNA repair.417
245658642014CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.15
270046162016Expansion of phenotype and genotypic data in CRB2-related syndrome.9
205831702010Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.8
309561162019Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5.8
202994512010Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complex.7
269255472016Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?6
179881532007Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells.3
147675622004Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3.0
147675622004Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3.0

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)