ERLIN2

GENE INFORMATION

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Gene name

ERLIN2 (HGNC Symbol)

Synonyms

C8orf2, Erlin-2, NET32, SPFH2, SPG18

Description

ER lipid raft associated 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

8

Cytoband

p11.23

Chromosome location (bp)

37736599 - 37759101

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000147475 (version 78.38)

Entrez gene

11160

UniProt

O94905 (UniProt - Evidence at protein level)

neXtProt

NX_O94905

Antibodypedia

ERLIN2 antibodies
 

PROTEIN VIEW

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ERLIN2-001
 
ERLIN2-002
 
ERLIN2-006
 
ERLIN2-007
 
ERLIN2-008
 
ERLIN2-009
 
ERLIN2-010
 
ERLIN2-014
 
ERLIN2-015
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ERLIN2-001 ENSP00000276461
ENST00000276461
O94905
Show all »
Show » Show » 339 37.8 Yes 0
ERLIN2-002 ENSP00000380405
ENST00000397228
O94905
Show all »
Show » Show » 152 16.8 Yes 0
ERLIN2-006 ENSP00000429903
ENST00000523887
O94905
Show all »
Show » Show » 206 22.9 Yes 0
ERLIN2-007 ENSP00000427847
ENST00000518586
O94905
Show all »
Show » Show » 206 22.9 Yes 0
ERLIN2-008 ENSP00000335220
ENST00000335171
O94905
Show all »
Show » Show » 152 16.8 Yes 0
ERLIN2-009 ENSP00000429621
ENST00000521644
E5RHW4
Show all »
Show » 338 37.7 Yes 0
ERLIN2-010 ENSP00000428112
ENST00000519638
O94905
Show all »
Show » Show » 339 37.8 Yes 0
ERLIN2-014 ENSP00000429229
ENST00000518526
E5RJ09
Show all »
Show » 197 22.3 Yes 0
ERLIN2-015 ENSP00000473292
ENST00000523107
O94905
Show all »
Show » Show » 206 22.9 Yes 0