InnateDB Protein
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IDBP-16838.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ERLIN2
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Protein Name
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ER lipid raft associated 2
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Synonyms
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C8orf2; Erlin-2; NET32; SPFH2; SPG18;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000335220
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InnateDB Gene
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IDBG-16836 (ERLIN2)
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Protein Structure
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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. {ECO:0000269PubMed:17502376, ECO:0000269PubMed:19240031}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:16835267, ECO:0000269PubMed:17502376, ECO:0000269PubMed:19240031}; Single-pass type II membrane protein {ECO:0000269PubMed:16835267, ECO:0000269PubMed:17502376, ECO:0000269PubMed:19240031}. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.
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Disease Associations |
Spastic paraplegia 18, autosomal recessive (SPG18) [MIM:611225]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18 is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures. {ECO:0000269PubMed:21330303}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous. {ECO:0000269PubMed:10449903}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
49
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001107
Band 7 protein
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PFAM |
PF01145
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PRINTS |
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PIRSF |
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SMART |
SM00244
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TIGRFAMs |
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Modification |
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SwissProt |
O94905
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PhosphoSite |
PhosphoSite-O94905
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
11160
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UniGene |
Hs.705490
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RefSeq |
NP_001003790
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HUGO |
HGNC:1356
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OMIM |
611605
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CCDS |
CCDS34879
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HPRD |
15437
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IMGT |
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EMBL |
AB018790
AK291394
AK297279
AL442077
AY358108
AY358851
BC005950
BC048308
BC050611
BC067765
CH471080
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GenPept |
AAH05950
AAH48308
AAH50611
AAH67765
AAQ88475
AAQ89210
BAA36845
BAF84083
BAG59750
CAC09443
EAW63365
EAW63366
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