• Gene id: 9852

Gene Summary

• Gene Symbol: EPM2AIP1   Gene   UCSC   Ensembl
• Gene name: EPM2A interacting protein 1
• Alternate names: EPM2A-interacting protein 1, EPM2A (laforin) interacting protein 1, laforin-interacting protein,
• Gene location: 3p22.2 (36993130: 36985042)     Exons: 1     NC_000003.12
• Gene summary(Entrez): 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,
• OMIM: 605784

SNPs

rs1800734

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.36993455G>A
NC_000003.12   g.36993455G>C
NC_000003.11   g.37034946G>A
NC_000003.11   g.37034946G>C
NG_007109.2   g.5106G>A
NG_007109.2   g.5106G>C
NM_000249.3   c.-93G>A
NM_000249.3   c.-93G>C
NM_001258274.2   c.-1188G>A
NM_001258274.2   c.-1188G>C
NM_0  

Protein Summary

• Protein general information: Q7L775  
  • Name: EPM2A interacting protein 1 (Laforin interacting protein)
  • Length: 607  
  • Mass: 70370
  • Tissue specificity: Expressed in heart, brain, placenta, liver, pancreas, kidney and skeletal muscle. {ECO
• Sequence:

  MWMTPKRSKMEVDEALVFRPEWTQRYLVVEPPEGDGALCLVCRRLIVATRERDVRRHYEAEHEYYERYVADGERA
  ALVERLRQGDLPVASFTPEERAARAGLGLCRLLALKGRGWGEGDFVYQCMEVLLREVLPEHVSVLQGVDLSPDIT
  RQRILSIDRNLRNQLFNRARDFKAYSLALDDQAFVAYENYLLVFIRGVGPELEVQEDLLTIINLTHHFSVGALMS
  AILESLQTAGLSLQRMVGLTTTHTLRMIGENSGLVSYMREKAVSPNCWNVIHYSGFLHLELLSSYDVDVNQIINT
  ISEWIVLIKTRGVRRPEFQTLLTESESEHGERVNGRCLNNWLRRGKTLKLIFSLRKEMEAFLVSVGATTVHFSDK
  QWLCDFGFLVDIMEHLRELSEELRVSKVFAAAAFDHICTFEVKLNLFQRHIEEKNLTDFPALREVVDELKQQNKE
  DEKIFDPDRYQMVICRLQKEFERHFKDLRFIKKDLELFSNPFNFKPEYAPISVRVELTKLQANTNLWNEYRIKDL
  GQFYAGLSAESYPIIKGVACKVASLFDSNQICEKAFSYLTRNQHTLSQPLTDEHLQALFRVATTEMEPGWDDLVR
  ERNESNP

• Structural information:
  • Interpro: IPR026630  
  • STRING: ENSP00000406027
• Other Databases: GeneCards:  EPM2AIP1  Malacards:  EPM2AIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045725	positive regulation of glycogen biosynthetic process	IBA	biological process
GO:2000467	positive regulation of glycogen (starch) synthase activity	IBA	biological process
GO:0032868	response to insulin	IBA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000467	positive regulation of glycogen (starch) synthase activity	IEA	biological process
GO:0098554	cytoplasmic side of endoplasmic reticulum membrane	IEA	cellular component
GO:0032868	response to insulin	IEA	biological process
GO:0045725	positive regulation of glycogen biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881