Property Summary

NCBI Gene PubMed Count 230
Grant Count 121
R01 Count 66
Funding $20,855,164.93
PubMed Score 699.89
PubTator Score 526.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.100 0.000
group 3 medulloblastoma 1.100 0.012

Synonym

Gene

PDB

1X51   3N5N  

Gene RIF (246)

PMID Text
26881680 MutY homolog Y165C and G382D mutations are not associated with cholangiocarinoma.
26511139 Expression of APC is decreased in mutation negative cases and this appears to be a promising indicator of FAP predisposition, while for MUTYH gene, mutation is associated to reduced mRNA expression.
26446593 the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC mutation
26377631 adenine glycosylase activity, mismatch recognition properties and interaction with protein partners of MUTYH and 5 MAP variants were examined; P502L and R520Q had reduced affinity for PCNA; only Q324H was found to have reduced affinity for Hus1
26273655 We demonstrated that the rs3219463 and rs3219476 polymorphisms in RA patients from a Taiwan Chinese population were associated with disease susceptibility. These data indicate that the MUTYH gene may play a role in the progression of RA.
26202870 A mutation in both a MUTYH and either a MLH1, MSH2 and PMS2 gene mutation is associated with colorectal cancer.
26074017 first study to show that SNPs of genes involved in DNA repair, may modulate the risk of Depressive Disorder.
26056087 Data suggest that detection of the c.34G>T KRAS transversion could imply biallelic germline mutY DNA glycosylase MUTYH mutation and lead to genetic counseling.
25998844 The results of this study suggested that the MUTYH gene polymorphisms may play an important role in the etiology of Alzheimer's Disease.
25916209 As well as MUTYH Tyr/Tyr and XPD Asp/Asn genotypes further increased the risk by 2.9.
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AA Sequence

MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGAPAGLARQPE      1 - 70
EVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVA     71 - 140
TVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLP    141 - 210
GVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAM    211 - 280
ELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTL    281 - 350
GVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQE    351 - 420
LQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKV    421 - 490
FRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ                  491 - 546
//

Text Mined References (229)

PMID Year Title
26881680 MutY homolog Y165C and G382D mutations in cholangiocarinoma: No role.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26511139 2015 Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.
26446593 2016 Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
26377631 2015 Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1.
26273655 2015 MUTYH Gene Polymorphisms as Risk Factors for Rheumatoid Arthritis.
26202870 2015 Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.
26074017 2015 Association between single nucleotide polymorphisms of MUTYH, hOGG1 and NEIL1 genes, and depression.
26056087 Somatic c.34G>T KRAS mutation: a new prescreening test for MUTYH-associated polyposis?
25998844 2015 Variants of Base Excision Repair Genes MUTYH , PARP1 and XRCC1 in Alzheimer's Disease Risk.
More...