Property Summary

NCBI Gene PubMed Count 22
PubMed Score 52.34
PubTator Score 22.90

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
posterior fossa group B ependymoma 1.300 0.000
cystic fibrosis 1.019 0.001
lung adenocarcinoma -1.300 0.000
group 3 medulloblastoma 1.300 0.012
lung carcinoma -1.700 0.000
Breast cancer -1.700 0.000
invasive ductal carcinoma -1.100 0.000
ovarian cancer -3.000 0.000

Synonym

Accession Q9NQX1 Q0VAI9 Q0VAJ0 Q6NXQ7
Symbols BCS2
PFM2

Gene

Gene RIF (16)

PMID Text
26560304 Reduced expression of PRDM5 was observed in the cornea and retina of brittle cornea syndrome patients.
26489929 Genetic variants in PRDM5 can lead to various syndromic and nonsyndromic disorders affecting the anterior segment of the eye.
26395458 Defective interaction of PRDM5 with repressive complexes, and dysregulation of H3K9me2, play a role in PRDM5-associated disease.
25613750 These data suggest that PRDM5 is a relevant tumour suppressor gene that is frequently targeted in colorectal tumourigenesis.
24966940 PRDM2, PRDM5, PRDM16 promoters are methylated and their expression is suppressed in lung cancer cells.
24395656 Promoter methylation-mediated downregulation of PRDM5 contributes to the development of lung squamous cell carcinoma.
23873026 Data provide the first causal link between Prdm5 loss and intestinal carcinogenesis, and uncover an extensive and novel PRDM5 target repertoire likely facilitating the tumor-suppressive functions of PRDM5.
22087297 Frequent epigenetic silencing of PRDM5 is involved in multiple tumorigeneses, which could serve as a tumor biomarker
21664999 ZNF469 and PRDM5, two genes that when mutated cause brittle cornea syndrome, participate in the same regulatory pathway.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
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AA Sequence

MLGMYVPDRFSLKSSRVQDGMGLYTARRVRKGEKFGPFAGEKRMPEDLDENMDYRLMWEVRGSKGEVLYI      1 - 70
LDATNPRHSNWLRFVHEAPSQEQKNLAAIQEGENIFYLAVEDIETDTELLIGYLDSDMEAEEEEQQIMTV     71 - 140
IKEGEVENSRRQSTAGRKDRLGCKEDYACPQCESSFTSEDILAEHLQTLHQKPTEEKEFKCKNCGKKFPV    141 - 210
KQALQRHVLQCTAKSSLKESSRSFQCSVCNSSFSSASSFEQHQETCRGDARFVCKADSCGKRLKSKDALK    211 - 280
RHQENVHTGDPKKKLICSVCNKKCSSASSLQEHRKIHEIFDCQECMKKFISANQLKRHMITHSEKRPYNC    281 - 350
EICNKSFKRLDQVGAHKVIHSEDKPYKCKLCGKGFAHRNVYKNHKKTHSEERPFQCEECKALFRTPFSLQ    351 - 420
RHLLIHNSERTFKCHHCDATFKRKDTLNVHVQVVHERHKKYRCELCNKAFVTPSVLRSHKKTHTGEKEKI    421 - 490
CPYCGQKFASSGTLRVHIRSHTGERPYQCPYCEKGFSKNDGLKMHIRTHTREKPYKCSECSKAFSQKRGL    491 - 560
DEHKRTHTGEKPFQCDVCDLAFSLKKMLIRHKMTHNPNRPLAECQFCHKKFTRNDYLKVHMDNIHGVADS    561 - 630
//

Text Mined References (24)

PMID Year Title
26560304 2015 Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
26489929 2016 Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
26395458 2015 A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
25613750 2015 Methylation and expression of the tumour suppressor, PRDM5, in colorectal cancer and polyp subgroups.
24966940 2014 Methylation of PRDM2, PRDM5 and PRDM16 genes in lung cancer cells.
24395656 2014 Promoter methylation-mediated downregulation of PRDM5 contributes to the development of lung squamous cell carcinoma.
23873026 2014 Prdm5 suppresses Apc(Min)-driven intestinal adenomas and regulates monoacylglycerol lipase expression.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22087297 2011 The epigenetic modifier PRDM5 functions as a tumor suppressor through modulating WNT/?-catenin signaling and is frequently silenced in multiple tumors.
21664999 2011 Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
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