help  | about  | cite  | software

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:
  • SPFH2,
  • SPFH domain family, member 2,
  • SPG18,
  • C8orf2,
  • C8orf2,
  • AY358108,
  • OTTHUMG00000164005,
  • NET32,
  • SPFH2,
  • ERLIN2,
  • SPG18,
  • NET32,
  • NM_007175,
  • uc003xke.5,
  • spastic paraplegia 18 (autosomal dominant),
  • chromosome 8 open reading frame 2,
  • Erlin-2,
  • Erlin-2,
  • HGNC:1356
  • identifiers:
  • 11160,
  • ENSG00000147475,
  • ERLIN2

Genome feature

Region: gene ? Length: 21223  
Location: 8:37736579-37757801 Cyto location: 8p11.23


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

51 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results