Property Summary

NCBI Gene PubMed Count 16
Grant Count 20
R01 Count 19
Funding $1,429,083.28
PubMed Score 31.24
PubTator Score 20.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
posterior fossa group A ependymoma 2.100 0.000
ovarian cancer -1.100 0.000

Gene RIF (10)

PMID Text
25557780 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.
25557779 We demonstrate that CRB2 mutations result in loss of function and therefore constitute causative mutations leading to Nephrotic syndrome in humans.
24565864 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.
20583170 Observational study of gene-disease association. (HuGE Navigator)
20299451 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
17988153 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
17190600 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).
15851977 This study shows that CRB2 sequence variants are not a common cause of autosomal recessive RP and LCA.
14767562 Crumbs homolog 2 gene maps to human chromosome 9q33.3
14767562 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.

AA Sequence

MALARPGTPDPQALASVLLLLLWAPALSLLAGTVPSEPPSACASDPCAPGTECQATESGGYTCGPMEPRG      1 - 70
CATQPCHHGALCVPQGPDPTGFRCYCVPGFQGPRCELDIDECASRPCHHGATCRNLADRYECHCPLGYAG     71 - 140
VTCEMEVDECASAPCLHGGSCLDGVGSFRCVCAPGYGGTRCQLDLDECQSQPCAHGGTCHDLVNGFRCDC    141 - 210
AGTGYEGTHCEREVLECASAPCEHNASCLEGLGSFRCLCWPGYSGELCEVDEDECASSPCQHGGRCLQRS    211 - 280
DPALYGGVQAAFPGAFSFRHAAGFLCHCPPGFEGADCGVEVDECASRPCLNGGHCQDLPNGFQCHCPDGY    281 - 350
AGPTCEEDVDECLSDPCLHGGTCSDTVAGYICRCPETWGGRDCSVQLTGCQGHTCPLAATCIPIFESGVH    351 - 420
SYVCHCPPGTHGPFCGQNTTFSVMAGSPIQASVPAGGPLGLALRFRTTLPAGTLATRNDTKESLELALVA    421 - 490
ATLQATLWSYSTTVLVLRLPDLALNDGHWHQVEVVLHLATLELRLWHEGCPARLCVASGPVALASTASAT    491 - 560
PLPAGISSAQLGDATFAGCLQDVRVDGHLLLPEDLGENVLLGCERREQCRPLPCVHGGSCVDLWTHFRCD    561 - 630
CARPHRGPTCADEIPAATFGLGGAPSSASFLLQELPGPNLTVSFLLRTRESAGLLLQFANDSAAGLTVFL    631 - 700
SEGRIRAEVPGSPAVVLPGRWDDGLRHLVMLSFGPDQLQDLGQHVHVGGRLLAADSQPWGGPFRGCLQDL    701 - 770
RLDGCHLPFFPLPLDNSSQPSELGGRQSWNLTAGCVSEDMCSPDPCFNGGTCLVTWNDFHCTCPANFTGP    771 - 840
TCAQQLWCPGQPCLPPATCEEVPDGFVCVAEATFREGPPAAFSGHNASSGRLLGGLSLAFRTRDSEAWLL    841 - 910
RAAAGALEGVWLAVRNGSLAGGVRGGHGLPGAVLPIPGPRVADGAWHRVRLAMERPAATTSRWLLWLDGA    911 - 980
ATPVALRGLASDLGFLQGPGAVRILLAENFTGCLGRVALGGLPLPLARPRPGAAPGAREHFASWPGTPAP    981 - 1050
ILGCRGAPVCAPSPCLHDGACRDLFDAFACACGPGWEGPRCEAHVDPCHSAPCARGRCHTHPDGRFECRC   1051 - 1120
PPGFGGPRCRLPVPSKECSLNVTCLDGSPCEGGSPAANCSCLEGLAGQRCQVPTLPCEANPCLNGGTCRA   1121 - 1190
AGGVSECICNARFSGQFCEVAKGLPLPLPFPLLEVAVPAACACLLLLLLGLLSGILAARKRRQSEGTYSP   1191 - 1260
SQQEVAGARLEMDSVLKVPPEERLI                                                1261 - 1285
//

Text Mined References (16)

PMID Year Title
25557780 2015 CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
25557779 2015 Defects of CRB2 cause steroid-resistant nephrotic syndrome.
24565864 2014 CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
20583170 2010 Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
20299451 2010 Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complex.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
17988153 2007 Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
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