The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008] See more...

Aliases for EPM2AIP1 Gene

Aliases for EPM2AIP1 Gene

  • EPM2A Interacting Protein 1 2 3 5
  • EPM2A (Laforin) Interacting Protein 1 2 3
  • EPM2A-Interacting Protein 1 3 4
  • Laforin-Interacting Protein 3 4
  • KIAA0766 2 4
  • Laforin Interacting Protein 1 2
  • EPM2AIP1 5
  • FLJ11207 2

External Ids for EPM2AIP1 Gene

Previous GeneCards Identifiers for EPM2AIP1 Gene

  • GC03M036302
  • GC03M036843
  • GC03M036989
  • GC03M037004
  • GC03M037027

Summaries for EPM2AIP1 Gene

Entrez Gene Summary for EPM2AIP1 Gene

  • The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]

GeneCards Summary for EPM2AIP1 Gene

EPM2AIP1 (EPM2A Interacting Protein 1) is a Protein Coding gene. Diseases associated with EPM2AIP1 include Progressive Myoclonus Epilepsy and Myoclonus Epilepsy. An important paralog of this gene is ZBED9.

Additional gene information for EPM2AIP1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPM2AIP1 Gene

Genomics for EPM2AIP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPM2AIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPM2AIP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPM2AIP1

Top Transcription factor binding sites by QIAGEN in the EPM2AIP1 gene promoter:
  • c-Myc
  • CREB
  • HSF2
  • Max1
  • MRF-2
  • MyoD
  • Pax-6
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for EPM2AIP1 Gene

Genomic Locations for EPM2AIP1 Gene
chr3:36,985,043-36,993,131
(GRCh38/hg38)
Size:
8,089 bases
Orientation:
Minus strand
chr3:37,027,357-37,034,795
(GRCh37/hg19)
Size:
7,439 bases
Orientation:
Minus strand

Genomic View for EPM2AIP1 Gene

Genes around EPM2AIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPM2AIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPM2AIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPM2AIP1 Gene

Proteins for EPM2AIP1 Gene

  • Protein details for EPM2AIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L775-EPMIP_HUMAN
    Recommended name:
    EPM2A-interacting protein 1
    Protein Accession:
    Q7L775
    Secondary Accessions:
    • O94866
    • Q9H3L3

    Protein attributes for EPM2AIP1 Gene

    Size:
    607 amino acids
    Molecular mass:
    70370 Da
    Quaternary structure:
    • Interacts with EPM2A.
    SequenceCaution:
    • Sequence=AAG43120.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=AAG43120.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA34486.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for EPM2AIP1 Gene

Post-translational modifications for EPM2AIP1 Gene

  • Ubiquitination at Lys495 and Lys523
  • Modification sites at PhosphoSitePlus

Other Protein References for EPM2AIP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPM2AIP1 Gene

Domains & Families for EPM2AIP1 Gene

Gene Families for EPM2AIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EPM2AIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EPM2AIP1 Gene

GenScript: Design optimal peptide antigens:
  • Laforin-interacting protein (EPMIP_HUMAN)
genes like me logo Genes that share domains with EPM2AIP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EPM2AIP1 Gene

Function for EPM2AIP1 Gene

Phenotypes From GWAS Catalog for EPM2AIP1 Gene

Gene Ontology (GO) - Molecular Function for EPM2AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with EPM2AIP1: view
genes like me logo Genes that share phenotypes with EPM2AIP1: view

Animal Model Products

CRISPR Products

miRNA for EPM2AIP1 Gene

miRTarBase miRNAs that target EPM2AIP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPM2AIP1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EPM2AIP1 Gene

Localization for EPM2AIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPM2AIP1 Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPM2AIP1 gene
Compartment Confidence
nucleus 3
endoplasmic reticulum 2
cytosol 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for EPM2AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0098554 cytoplasmic side of endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with EPM2AIP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPM2AIP1 Gene

Pathways & Interactions for EPM2AIP1 Gene

PathCards logo

SuperPathways for EPM2AIP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EPM2AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032868 response to insulin IEA,IBA 21873635
GO:0045725 positive regulation of glycogen biosynthetic process IBA 21873635
GO:2000467 positive regulation of glycogen (starch) synthase activity IBA 21873635
genes like me logo Genes that share ontologies with EPM2AIP1: view

No data available for Pathways by source and SIGNOR curated interactions for EPM2AIP1 Gene

Drugs & Compounds for EPM2AIP1 Gene

No Compound Related Data Available

Transcripts for EPM2AIP1 Gene

mRNA/cDNA for EPM2AIP1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPM2AIP1

Alternative Splicing Database (ASD) splice patterns (SP) for EPM2AIP1 Gene

No ASD Table

Relevant External Links for EPM2AIP1 Gene

GeneLoc Exon Structure for
EPM2AIP1

Expression for EPM2AIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPM2AIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPM2AIP1 Gene

This gene is overexpressed in Retina (12.2) and Fetal Brain (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPM2AIP1 Gene



Protein tissue co-expression partners for EPM2AIP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPM2AIP1

SOURCE GeneReport for Unigene cluster for EPM2AIP1 Gene:

Hs.28020

mRNA Expression by UniProt/SwissProt for EPM2AIP1 Gene:

Q7L775-EPMIP_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, liver, pancreas, kidney and skeletal muscle.

Evidence on tissue expression from TISSUES for EPM2AIP1 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with EPM2AIP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPM2AIP1 Gene

Orthologs for EPM2AIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPM2AIP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EPM2AIP1 30 31
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EPM2AIP1 30 31
  • 88.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Epm2aip1 30 17 31
  • 87.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Epm2aip1 30
  • 86.45 (n)
Cow
(Bos Taurus)
Mammalia EPM2AIP1 30 31
  • 85.94 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 29 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 21 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii BX908763.1 31
  • 29 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
ManyToMany
Species where no ortholog for EPM2AIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EPM2AIP1 Gene

ENSEMBL:
Gene Tree for EPM2AIP1 (if available)
TreeFam:
Gene Tree for EPM2AIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPM2AIP1: view image

Paralogs for EPM2AIP1 Gene

genes like me logo Genes that share paralogs with EPM2AIP1: view

Variants for EPM2AIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPM2AIP1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
787011 Benign: not provided 36,992,693(-) G/A SYNONYMOUS_VARIANT
rs9311149 Benign: Lynch syndrome 36,988,684(-) C/A THREE_PRIME_UTR_VARIANT
rs4647201 - p.Ala360Ser
rs4647202 - p.Val333Phe

Additional dbSNP identifiers (rs#s) for EPM2AIP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EPM2AIP1 Gene

Variant ID Type Subtype PubMed ID
nsv834662 CNV loss 17160897
nsv834663 CNV loss 17160897
nsv954463 CNV duplication 24416366

Variation tolerance for EPM2AIP1 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPM2AIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPM2AIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPM2AIP1 Gene

Disorders for EPM2AIP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EPM2AIP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
progressive myoclonus epilepsy
  • progressive myoclonic epilepsy
myoclonus epilepsy
  • epilepsies, myoclonic
myoclonus
hyperinsulinemic hypoglycemia, familial, 6
  • hhs
lynch syndrome
  • colorectal cancer, hereditary nonpolyposis, type 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EPM2AIP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with EPM2AIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPM2AIP1 Gene

Publications for EPM2AIP1 Gene

  1. Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product. (PMID: 12782127) Ianzano L … Scherer SW (Genomics 2003) 3 4 23
  2. 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. (PMID: 18095154) Walker LC … Spurdle AB (Breast cancer research and treatment 2008) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. 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. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for EPM2AIP1 Gene

Sources for EPM2AIP1 Gene