Homo sapiens Gene: ERLIN2
Summary
InnateDB Gene IDBG-16836.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ERLIN2
Gene Name ER lipid raft associated 2
Synonyms C8orf2; Erlin-2; NET32; SPFH2; SPG18;
Species Homo sapiens
Ensembl Gene ENSG00000147475
Encoded Proteins
ER lipid raft associated 2
ER lipid raft associated 2
ER lipid raft associated 2
ER lipid raft associated 2
ER lipid raft associated 2
ER lipid raft associated 2
ER lipid raft associated 2
ER lipid raft associated 2
ER lipid raft associated 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:37736599-37759101
Strand Forward strand
Band p11.23
Transcripts
ENST00000335171 ENSP00000335220
ENST00000276461 ENSP00000276461
ENST00000397228 ENSP00000380405
ENST00000519872
ENST00000518526 ENSP00000429229
ENST00000523887 ENSP00000429903
ENST00000518586 ENSP00000427847
ENST00000521644 ENSP00000429621
ENST00000523107 ENSP00000473292
ENST00000519638 ENSP00000428112
ENST00000521993
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 49 [view]
Protein-Protein 49 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0008219 cell death
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt O94905
TrEMBL
UniProt Splice Variant
Entrez Gene 11160
UniGene Hs.603403 Hs.606684 Hs.624471 Hs.669261 Hs.705490
RefSeq NM_001003790 NM_001003791 NM_007175 XM_005273393 XM_005273391
HUGO HGNC:1356
OMIM 611605
CCDS CCDS34879 CCDS6095
HPRD 15437
IMGT
EMBL AB018790 AK291394 AK297279 AL442077 AY358108 AY358851 BC005950 BC048308 BC050611 BC067765 CH471080
GenPept AAH05950 AAH48308 AAH50611 AAH67765 AAQ88475 AAQ89210 BAA36845 BAF84083 BAG59750 CAC09443 EAW63365 EAW63366
RNA Seq Atlas 11160