Property Summary

NCBI Gene PubMed Count 10
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 7.7e-04
hepatocellular carcinoma 1.300 2.9e-06
osteosarcoma -3.486 4.8e-09
primary pancreatic ductal adenocarcinoma 1.451 3.4e-03
intraductal papillary-mucinous neoplasm ... 1.200 1.4e-02
lung cancer 1.200 2.1e-02
lung carcinoma 1.100 1.3e-18
Pick disease -1.500 8.1e-06
progressive supranuclear palsy -1.400 5.6e-03
ovarian cancer -2.000 3.1e-07
pancreatic cancer 1.100 6.7e-03

Synonym

Accession Q7L775 O94866 Q9H3L3
Symbols

Gene

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

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.
9872452 1998 Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.