EPM2AIP1 EPM2A interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPM2AIP1provided by HGNC
Official Full Name: EPM2A interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:19735
See related: Ensembl:ENSG00000178567 MIM:607911; AllianceGenome:HGNC:19735
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 3p22.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (36985043..36993131, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (36986417..36994504, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (37026534..37034622, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The -93G>A polymorphism modifies the efficiency of MLH1/EPM2AIP1 transcription.
Title: Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: 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.
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
Title: Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14054 (e-PCR)
- UniSTS:2833

PMC23037P1 (e-PCR)
- UniSTS:272188

PMC23037P2 (e-PCR)
- UniSTS:272189

PMC23037P3 (e-PCR)
- UniSTS:272190

G67469 (e-PCR)
- UniSTS:186716

PMC140684P3 (e-PCR)
- UniSTS:270962

PMC140684P4 (e-PCR)
- UniSTS:270963

PMC140684P5 (e-PCR)
- UniSTS:270964

PMC140684P6 (e-PCR)
- UniSTS:270965

PMC140684P7 (e-PCR)
- UniSTS:270966

PMC140684P8 (e-PCR)
- UniSTS:270967

RH91326 (e-PCR)
- UniSTS:86170

RH78369 (e-PCR)
- UniSTS:5033

SHGC-37166 (e-PCR)
- UniSTS:2232

SHGC-76812 (e-PCR)
- UniSTS:35033

PMC100312P1 (e-PCR)
- UniSTS:270056

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in glycogen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glycogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic side of endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: EPM2A-interacting protein 1

Names: EPM2A (laforin) interacting protein 1; laforin-interacting protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.