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Gene : ERLIN2 Homo sapiens

Name  ? ER lipid raft associated 2 Cytological Location  8p11.23
Brief Description  ER lipid raft associated 2
Description  This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
  • synonyms:
  • AY358108,
  • NM_007175,
  • SPFH domain family, member 2,
  • SPG18,
  • SPFH2,
  • SPG18,
  • HGNC:1356,
  • C8orf2,
  • chromosome 8 open reading frame 2,
  • ERLIN2,
  • OTTHUMG00000164005,
  • Erlin-2,
  • NET32,
  • NET32,
  • SPFH2,
  • C8orf2,
  • uc003xke.5,
  • spastic paraplegia 18 (autosomal dominant),
  • Erlin-2
  • identifiers:
  • 11160,
  • ENSG00000147475,
  • ERLIN2

Genome feature

Region: gene ? Length: 21796  
Location: 8:37736627-37758422 Cyto location: 8p11.23

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1 Diseases

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228 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results