Gene/Proteome Database (LMPD)
LMPD ID
LMP006773
Gene ID
Species
Homo sapiens (Human)
Gene Name
ER lipid raft associated 2
Gene Symbol
Synonyms
C8orf2; Erlin-2; NET32; SPFH2; SPG18
Alternate Names
erlin-2; SPFH domain family, member 2; endoplasmic reticulum lipid raft-associated protein 2; stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2
Chromosome
8
Map Location
8p11.2
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]
Orthologs
Proteins
| erlin-2 isoform 1 | |
|---|---|
| Refseq ID | NP_009106 |
| Protein GI | 6005721 |
| UniProt ID | O94905 |
| mRNA ID | NM_007175 |
| Length | 339 |
| RefSeq Status | REVIEWED |
| MAQLGAVVAVASSFFCASLFSAVHKIEEGHIGVYYRGGALLTSTSGPGFHLMLPFITSYKSVQTTLQTDEVKNVPCGTSGGVMIYFDRIEVVNFLVPNAVYDIVKNYTADYDKALIFNKIHHELNQFCSVHTLQEVYIELFDQIDENLKLALQQDLTSMAPGLVIQAVRVTKPNIPEAIRRNYELMESEKTKLLIAAQKQKVVEKEAETERKKALIEAEKVAQVAEITYGQKVMEKETEKKISEIEDAAFLAREKAKADAECYTAMKIAEANKLKLTPEYLQLMKYKAIASNSKIYFGKDIPNMFMDSAGSVSKQFEGLADKLSFGLEDEPLETATKEN | |
| erlin-2 isoform 2 | |
|---|---|
| Refseq ID | NP_001003791 |
| Protein GI | 51242966 |
| UniProt ID | O94905 |
| mRNA ID | NM_001003791 |
| Length | 152 |
| RefSeq Status | REVIEWED |
| MAQLGAVVAVASSFFCASLFSAVHKIEEGHIGVYYRGGALLTSTSGPGFHLMLPFITSYKSVQTTLQTDEVKNVPCGTSGGVMIYFDRIEVVNFLVPNAVYDIVKNYTADYDKALIFNKIHHELNQFCSVHTLQEVYIELFGLENDFSQESS | |
| erlin-2 isoform 2 | |
|---|---|
| Refseq ID | NP_001003790 |
| Protein GI | 51242968 |
| UniProt ID | O94905 |
| mRNA ID | NM_001003790 |
| Length | 152 |
| RefSeq Status | REVIEWED |
| Protein sequence is identical to GI:51242966 (mRNA isoform) | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | IDA:LIFEdb | C | endoplasmic reticulum |
| GO:0005789 | IDA:UniProtKB | C | endoplasmic reticulum membrane |
| GO:0070062 | IDA:UniProt | C | extracellular vesicular exosome |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0043234 | IDA:MGI | C | protein complex |
| GO:0030433 | IDA:UniProtKB | P | ER-associated ubiquitin-dependent protein catabolic process |
| GO:0008219 | IEA:UniProtKB-KW | P | cell death |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR001107 | Band 7 protein |
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O94905-1; Sequence=Displayed; Name=2; IsoId=O94905-2; Sequence=VSP_008713, VSP_008714; Name=3; IsoId=O94905-3; Sequence=VSP_013940, VSP_013941; |
| Disease | Spastic paraplegia 18, autosomal recessive (SPG18) [MIM |
| Function | Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Also involved in ITPR1 degradation by the ERAD pathway. |
| Sequence Caution | Sequence=AAH50611.1; Type=Erroneous initiation; Evidence= ; |
| Similarity | Belongs to the band 7/mec-2 family. |
| Subcellular Location | Endoplasmic reticulum membrane {ECO |
| Subunit | Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination (By similarity). Forms a heteromeric complex with ERLIN1. In complex with ERLIN1, interacts with RNF170. {ECO |
| Tissue Specificity | Ubiquitous. |
Identical and Related Proteins
Unique RefSeq proteins for LMP006773 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 6005721 | RefSeq | NP_009106 | 339 | erlin-2 isoform 1 |
| 51242966 | RefSeq | NP_001003791 | 152 | erlin-2 isoform 2 |
Identical Sequences to LMP006773 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:51242966 | GenBank | AHD74392.1 | 152 | Sequence 13758 from patent US 8586006 |
| GI:51242966 | GenBank | AHD74393.1 | 152 | Sequence 13759 from patent US 8586006 |
| GI:51242966 | GenBank | AIC50826.1 | 152 | ERLIN2, partial [synthetic construct] |
| GI:6005721 | RefSeq | XP_008954404.1 | 339 | PREDICTED: erlin-2 isoform X1 [Pan paniscus] |
| GI:6005721 | RefSeq | XP_008954405.1 | 339 | PREDICTED: erlin-2 isoform X1 [Pan paniscus] |
| GI:51242966 | RefSeq | XP_008954407.1 | 152 | PREDICTED: erlin-2 isoform X3 [Pan paniscus] |
| GI:6005721 | RefSeq | XP_009241970.1 | 339 | PREDICTED: erlin-2 isoform X1 [Pongo abelii] |
| GI:6005721 | RefSeq | XP_009241971.1 | 339 | PREDICTED: erlin-2 isoform X1 [Pongo abelii] |
| GI:6005721 | RefSeq | XP_009241972.1 | 339 | PREDICTED: erlin-2 isoform X1 [Pongo abelii] |
| GI:51242966 | RefSeq | XP_009241973.1 | 152 | PREDICTED: erlin-2 isoform X2 [Pongo abelii] |
| GI:51242966 | RefSeq | XP_009241974.1 | 152 | PREDICTED: erlin-2 isoform X2 [Pongo abelii] |
| GI:6005721 | RefSeq | XP_009453464.1 | 339 | PREDICTED: erlin-2 isoform X3 [Pan troglodytes] |
Related Sequences to LMP006773 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:6005721 | GenBank | EHH28411.1 | 339 | Endoplasmic reticulum lipid raft-associated protein 2 [Macaca mulatta] |
| GI:6005721 | GenBank | EHH64102.1 | 339 | Endoplasmic reticulum lipid raft-associated protein 2 [Macaca fascicularis] |
| GI:6005721 | GenBank | JAA40704.1 | 367 | ER lipid raft associated 2 [Pan troglodytes] |
| GI:51242966 | RefSeq | XP_004428907.1 | 152 | PREDICTED: erlin-2 isoform 3 [Ceratotherium simum simum] |
| GI:6005721 | RefSeq | XP_005273448.1 | 451 | PREDICTED: erlin-2 isoform X1 [Homo sapiens] |
| GI:51242966 | RefSeq | XP_005273450.1 | 264 | PREDICTED: erlin-2 isoform X3 [Homo sapiens] |
| GI:6005721 | RefSeq | XP_001169738.2 | 380 | PREDICTED: erlin-2 isoform X1 [Pan troglodytes] |
| GI:51242966 | RefSeq | XP_003311715.2 | 193 | PREDICTED: erlin-2 isoform X4 [Pan troglodytes] |
| GI:6005721 | RefSeq | XP_010383609.1 | 339 | PREDICTED: erlin-2 isoform X1 [Rhinopithecus roxellana] |
| GI:51242966 | RefSeq | XP_010383610.1 | 152 | PREDICTED: erlin-2 isoform X2 [Rhinopithecus roxellana] |
| GI:51242966 | RefSeq | XP_010383611.1 | 152 | PREDICTED: erlin-2 isoform X2 [Rhinopithecus roxellana] |
| GI:51242966 | RefSeq | XP_010346999.1 | 152 | PREDICTED: erlin-2 isoform X3 [Saimiri boliviensis boliviensis] |