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Gene : EPM2AIP1 Homo sapiens

Name  ? EPM2A interacting protein 1 Cytological Location  3p22.2
Brief Description  EPM2A interacting protein 1
Description  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]
  • synonyms:
  • AB018309,
  • EPM2AIP1,
  • KIAA0766,
  • OTTHUMG00000185486,
  • EPM2A (laforin) interacting protein 1,
  • NM_014805,
  • FLJ11207,
  • laforin interacting protein 1,
  • uc003cgk.4,
  • HGNC:19735
  • identifiers:
  • 9852,
  • ENSG00000178567,
  • EPM2AIP1

Genome feature

Region: gene ? Length: 8089  
Location: 3:36985043-36993131 reverse strand Cyto location: 3p22.2


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

582 SN Ps

5 Cross References

15 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results