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Gene : EMD Homo sapiens

Name  ? emerin Cytological Location  Xq28
Brief Description  emerin
Description  Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:3331,
  • Emery-Dreifuss muscular dystrophy,
  • LEMD5,
  • EDMD,
  • NM_000117,
  • LEM domain containing 5,
  • OTTHUMG00000033186,
  • LEMD5,
  • STA,
  • X82434,
  • uc004fkl.4,
  • STA,
  • EMD
  • identifiers:
  • 2010,
  • ENSG00000102119,
  • EMD

Genome feature

Region: gene ? Length: 2288  
Location: X:154379236-154381523 Cyto location: Xq28

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

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Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



390 SN Ps

5 Cross References

19 Data Sets

2 Homologues

2 Located Features

97 Rna Seq Results