Property Summary

NCBI Gene PubMed Count 10
Grant Count 1
Funding $75,000
PubMed Score 2.25
PubTator Score 4.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
gastric cancer 1.500 0.001
hepatocellular carcinoma 1.300 0.000
osteosarcoma -3.486 0.000
primary pancreatic ductal adenocarcinoma 1.451 0.003
intraductal papillary-mucinous neoplasm ... 1.200 0.014
lung cancer 1.200 0.021
lung carcinoma 1.100 0.000
Pick disease -1.500 0.000
progressive supranuclear palsy -1.400 0.006
ovarian cancer -2.000 0.000
pancreatic cancer 1.100 0.007

Synonym

Accession Q7L775 O94866 Q9H3L3
Symbols

Gene

PANTHER Protein Class (1)

 Grant Application (1)

Gene RIF (3)

PMID Text
21206982 The -93G>A polymorphism modifies the efficiency of MLH1/EPM2AIP1 transcription.
18095154 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12782127 The EPM2AIP1 gene was identified and characterized in a screen for laforin-interacting proteins with a human brain cDNA library; the specificity of the interaction was confirmed; subcellular colocalization of laforin and EPM2AIP1 protein was demonstrated

AA Sequence

MWMTPKRSKMEVDEALVFRPEWTQRYLVVEPPEGDGALCLVCRRLIVATRERDVRRHYEAEHEYYERYVA      1 - 70
DGERAALVERLRQGDLPVASFTPEERAARAGLGLCRLLALKGRGWGEGDFVYQCMEVLLREVLPEHVSVL     71 - 140
QGVDLSPDITRQRILSIDRNLRNQLFNRARDFKAYSLALDDQAFVAYENYLLVFIRGVGPELEVQEDLLT    141 - 210
IINLTHHFSVGALMSAILESLQTAGLSLQRMVGLTTTHTLRMIGENSGLVSYMREKAVSPNCWNVIHYSG    211 - 280
FLHLELLSSYDVDVNQIINTISEWIVLIKTRGVRRPEFQTLLTESESEHGERVNGRCLNNWLRRGKTLKL    281 - 350
IFSLRKEMEAFLVSVGATTVHFSDKQWLCDFGFLVDIMEHLRELSEELRVSKVFAAAAFDHICTFEVKLN    351 - 420
LFQRHIEEKNLTDFPALREVVDELKQQNKEDEKIFDPDRYQMVICRLQKEFERHFKDLRFIKKDLELFSN    421 - 490
PFNFKPEYAPISVRVELTKLQANTNLWNEYRIKDLGQFYAGLSAESYPIIKGVACKVASLFDSNQICEKA    491 - 560
FSYLTRNQHTLSQPLTDEHLQALFRVATTEMEPGWDDLVRERNESNP                           561 - 607
//

Text Mined References (11)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
21206982 2011 Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18095154 2008 Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12958597 2003 Mutations in NHLRC1 cause progressive myoclonus epilepsy.
12782127 2003 Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.
12692553 2003 Tissue-specific nuclear architecture and gene expression regulated by SATB1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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