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EPM2AIP1 (EPM2A interacting protein 1)

Identity

Alias_namesEPM2A (laforin) interacting protein 1
Alias_symbol (synonym)KIAA0766
FLJ11207
Other alias-
HGNC (Hugo) EPM2AIP1
LocusID (NCBI) 9852
Atlas_Id 62863
Location 3p22.2  [Link to chromosome band 3p22]
Location_base_pair Starts at 36985866 and ends at 36993304 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)EPM2AIP1   19735
Cards
Entrez_Gene (NCBI)EPM2AIP1  9852  EPM2A interacting protein 1
Aliases
GeneCards (Weizmann)EPM2AIP1
Ensembl hg19 (Hinxton)ENSG00000178567 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178567 [Gene_View]  chr3:36985866-36993304 [Contig_View]  EPM2AIP1 [Vega]
ICGC DataPortalENSG00000178567
TCGA cBioPortalEPM2AIP1
AceView (NCBI)EPM2AIP1
Genatlas (Paris)EPM2AIP1
WikiGenes9852
SOURCE (Princeton)EPM2AIP1
Genetics Home Reference (NIH)EPM2AIP1
Genomic and cartography
GoldenPath hg38 (UCSC)EPM2AIP1  -     chr3:36985866-36993304 -  3p22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPM2AIP1  -     3p22.2   [Description]    (hg19-Feb_2009)
EnsemblEPM2AIP1 - 3p22.2 [CytoView hg19]  EPM2AIP1 - 3p22.2 [CytoView hg38]
Mapping of homologs : NCBIEPM2AIP1 [Mapview hg19]  EPM2AIP1 [Mapview hg38]
OMIM607911   
Gene and transcription
Genbank (Entrez)AB018309 AF059751 AF086312 AK002069 AY178832
RefSeq transcript (Entrez)NM_014805
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPM2AIP1
Cluster EST : UnigeneHs.28020 [ NCBI ]
CGAP (NCI)Hs.28020
Alternative Splicing GalleryENSG00000178567
Gene ExpressionEPM2AIP1 [ NCBI-GEO ]   EPM2AIP1 [ EBI - ARRAY_EXPRESS ]   EPM2AIP1 [ SEEK ]   EPM2AIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPM2AIP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9852
GTEX Portal (Tissue expression)EPM2AIP1
Human Protein AtlasENSG00000178567-EPM2AIP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L775   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L775  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L775
Splice isoforms : SwissVarQ7L775
PhosPhoSitePlusQ7L775
Domains : Interpro (EBI)EPM2A-int_1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EPM2AIP1
DMDM Disease mutations9852
Blocks (Seattle)EPM2AIP1
SuperfamilyQ7L775
Human Protein Atlas [tissue]ENSG00000178567-EPM2AIP1 [tissue]
Peptide AtlasQ7L775
HPRD07445
IPIIPI00419721   
Protein Interaction databases
DIP (DOE-UCLA)Q7L775
IntAct (EBI)Q7L775
FunCoupENSG00000178567
BioGRIDEPM2AIP1
STRING (EMBL)EPM2AIP1
ZODIACEPM2AIP1
Ontologies - Pathways
QuickGOQ7L775
Ontology : AmiGORNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  protein binding  nucleoplasm  cytoplasm  endoplasmic reticulum  regulation of transcription from RNA polymerase II promoter  response to insulin  identical protein binding  positive regulation of glycogen biosynthetic process  positive regulation of glycogen (starch) synthase activity  
Ontology : EGO-EBIRNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  protein binding  nucleoplasm  cytoplasm  endoplasmic reticulum  regulation of transcription from RNA polymerase II promoter  response to insulin  identical protein binding  positive regulation of glycogen biosynthetic process  positive regulation of glycogen (starch) synthase activity  
NDEx NetworkEPM2AIP1
Atlas of Cancer Signalling NetworkEPM2AIP1
Wikipedia pathwaysEPM2AIP1
Orthology - Evolution
OrthoDB9852
GeneTree (enSembl)ENSG00000178567
Phylogenetic Trees/Animal Genes : TreeFamEPM2AIP1
HOVERGENQ7L775
HOGENOMQ7L775
Homologs : HomoloGeneEPM2AIP1
Homology/Alignments : Family Browser (UCSC)EPM2AIP1
Gene fusions - Rearrangements
Tumor Fusion PortalEPM2AIP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPM2AIP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPM2AIP1
dbVarEPM2AIP1
ClinVarEPM2AIP1
1000_GenomesEPM2AIP1 
Exome Variant ServerEPM2AIP1
ExAC (Exome Aggregation Consortium)ENSG00000178567
GNOMAD BrowserENSG00000178567
Genetic variants : HAPMAP9852
Genomic Variants (DGV)EPM2AIP1 [DGVbeta]
DECIPHEREPM2AIP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPM2AIP1 
Mutations
ICGC Data PortalEPM2AIP1 
TCGA Data PortalEPM2AIP1 
Broad Tumor PortalEPM2AIP1
OASIS PortalEPM2AIP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPM2AIP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPM2AIP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EPM2AIP1
DgiDB (Drug Gene Interaction Database)EPM2AIP1
DoCM (Curated mutations)EPM2AIP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPM2AIP1 (select a term)
intoGenEPM2AIP1
Cancer3DEPM2AIP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607911   
Orphanet
DisGeNETEPM2AIP1
MedgenEPM2AIP1
Genetic Testing Registry EPM2AIP1
NextProtQ7L775 [Medical]
TSGene9852
GENETestsEPM2AIP1
Target ValidationEPM2AIP1
Huge Navigator EPM2AIP1 [HugePedia]
snp3D : Map Gene to Disease9852
BioCentury BCIQEPM2AIP1
ClinGenEPM2AIP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9852
Chemical/Pharm GKB GenePA134917440
Clinical trialEPM2AIP1
Miscellaneous
canSAR (ICR)EPM2AIP1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPM2AIP1
EVEXEPM2AIP1
GoPubMedEPM2AIP1
iHOPEPM2AIP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:07:23 CET 2017

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