Property Summary

NCBI Gene PubMed Count 68
Grant Count 28
R01 Count 26
Funding $3,868,493.51
PubMed Score 174.60
PubTator Score 119.29

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
oligodendroglioma 1.800 0.000
astrocytoma 1.400 0.000
osteosarcoma -2.595 0.000
posterior fossa group B ependymoma 3.100 0.000
medulloblastoma, large-cell -1.400 0.025
group 4 medulloblastoma -3.100 0.000
non primary Sjogren syndrome sicca -1.100 0.030
lung carcinoma 1.400 0.000
pituitary cancer 1.300 0.040
psoriasis -1.400 0.000

Gene RIF (47)

PMID Text
26312378 Comprehensive retinal dystrophy panel revealed a homozygous mutation in CRB1 (p.Pro836Thr:c.2506C>A) in both twins.
26165328 Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.
25760605 Removal of this side chain enhances the binding affinity by more than fivefold, suggesting that access of Crb to Pals1 may be regulated by intradomain contacts or by protein-protein interaction.
25323024 The phenotypes of these novel mutations for early-onset retinal dystrophy (EORD) are typical of CRB1-associated EORD
24811962 This report illustrates a novel presentation of a macular dystrophy caused by CRB1 mutations affecting 2 siblings exhibiting a relatively well-developed retinal structure and preservation of generalized retinal function.
24715753 The results from this study show that patients with Leber congenital amaurosis carry CRB1 null mutations more frequently than patients with retinitis pigmentosa.
24664696 Mutations in CRB1 and ABCA4 were found in a Swedish family with Leber congenital amaurosis and Stargardt disease.
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.
24535598 Macular nummular pigmentation is a gene-specific indication for CRB1associated retinal dystrophy.
24512366 CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.
More...

AA Sequence

MALKNINYLLIFYLSFSLLIYIKNSFCNKNNTRCLSNSCQNNSTCKDFSKDNDCSCSDTANNLDKDCDNM      1 - 70
KDPCFSNPCQGSATCVNTPGERSFLCKCPPGYSGTICETTIGSCGKNSCQHGGICHQDPIYPVCICPAGY     71 - 140
AGRFCEIDHDECASSPCQNGAVCQDGIDGYSCFCVPGYQGRHCDLEVDECASDPCKNEATCLNEIGRYTC    141 - 210
ICPHNYSGVNCELEIDECWSQPCLNGATCQDALGAYFCDCAPGFLGDHCELNTDECASQPCLHGGLCVDG    211 - 280
ENRYSCNCTGSGFTGTHCETLMPLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEIDLNECNSNPCQS    281 - 350
NGECVELSSEKQYGRITGLPSSFSYHEASGYVCICQPGFTGIHCEEDVNECSSNPCQNGGTCENLPGNYT    351 - 420
CHCPFDNLSRTFYGGRDCSDILLGCTHQQCLNNGTCIPHFQDGQHGFSCLCPSGYTGSLCEIATTLSFEG    421 - 490
DGFLWVKSGSVTTKGSVCNIALRFQTVQPMALLLFRSNRDVFVKLELLSGYIHLSIQVNNQSKVLLFISH    491 - 560
NTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTPLESDQSICAFQNSFLGGLPVGMTSNGVALLNF    561 - 630
YNMPSTPSFVGCLQDIKIDWNHITLENISSGSSLNVKAGCVRKDWCESQPCQSRGRCINLWLSYQCDCHR    631 - 700
PYEGPNCLREYVAGRFGQDDSTGYVIFTLDESYGDTISLSMFVRTLQPSGLLLALENSTYQYIRVWLERG    701 - 770
RLAMLTPNSPKLVVKFVLNDGNVHLISLKIKPYKIELYQSSQNLGFISASTWKIEKGDVIYIGGLPDKQE    771 - 840
TELNGGFFKGCIQDVRLNNQNLEFFPNPTNNASLNPVLVNVTQGCAGDNSCKSNPCHNGGVCHSRWDDFS    841 - 910
CSCPALTSGKACEEVQWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQILFRSNGNITRELTNITFGF    911 - 980
RTRDANVIILHAEKEPEFLNISIQDSRLFFQLQSGNSFYMLSLTSLQSVNDGTWHEVTLSMTDPLSQTSR    981 - 1050
WQMEVDNETPFVTSTIATGSLNFLKDNTDIYVGDRAIDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKP   1051 - 1120
QEEQFLKISTNSVVTGCLQLNVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELNIDECFSNPCIHGN   1121 - 1190
CSDRVAAYHCTCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQSRLPSTVCG   1191 - 1260
NEKTNLTCYNGGNCTEFQTELKCMCRPGFTGEWCEKDIDECASDPCVNGGLCQDLLNKFQCLCDVAFAGE   1261 - 1330
RCEVDLADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQGTYSPSRQEKEGSRVEMWNLMPPP   1331 - 1400
AMERLI                                                                   1401 - 1406
//

Text Mined References (84)

PMID Year Title
26312378 2015 CRB1-Related Maculopathy With Cystoid Macular Edema.
26165328 Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
25760605 2015 Structures of the human Pals1 PDZ domain with and without ligand suggest gated access of Crb to the PDZ peptide-binding groove.
25323024 2015 Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.
24925725 2014 Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.
24811962 2014 Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.
24715753 2014 Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
24664696 2014 Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.
24565864 2014 CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.
24535598 2014 Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
More...