ERLIN2
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
ER lipid raft associated 2 | MIM:611605 | Ensembl:ENSG00000147475 | HGNC:HGNC:1356 | PA25961 | 8p11.23 |
GO terms in ERLIN2
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IDA | GO:0005783 | endoplasmic reticulum |
CC | IBA | GO:0005789 | endoplasmic reticulum membrane |
CC | IDA | GO:0005789 | endoplasmic reticulum membrane |
CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
CC | IDA | GO:0005829 | cytosol |
CC | IDA | GO:0005886 | plasma membrane |
CC | TAS | GO:0005886 | plasma membrane |
CC | IEA | GO:0016021 | integral component of membrane |
CC | IDA | GO:0032991 | protein-containing complex |
CC | IDA | GO:0045121 | membrane raft |
BP | IEA | GO:0008203 | cholesterol metabolic process |
BP | IEA | GO:0018108 | peptidyl-tyrosine phosphorylation |
BP | IDA | GO:0030433 | ubiquitin-dependent ERAD pathway |
BP | IBA | GO:0032933 | SREBP signaling pathway |
BP | IMP | GO:0032933 | SREBP signaling pathway |
BP | IMP | GO:0045541 | negative regulation of cholesterol biosynthetic process |
BP | IMP | GO:0045717 | negative regulation of fatty acid biosynthetic process |
BP | TAS | GO:0055085 | transmembrane transport |
MF | TAS | GO:0004713 | protein tyrosine kinase activity |
MF | IPI | GO:0005515 | protein binding |
MF | IBA | GO:0015485 | cholesterol binding |
MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
Gene expression in normal tissue: ERLIN2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ERLIN2
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1226099 | Signaling by FGFR in disease |
reactome | R-HSA-1643685 | Disease |
reactome | R-HSA-1839124 | FGFR1 mutant receptor activation |
reactome | R-HSA-382551 | Transport of small molecules |
reactome | R-HSA-382556 | ABC-family proteins mediated transport |
reactome | R-HSA-5619084 | ABC transporter disorders |
reactome | R-HSA-5619115 | Disorders of transmembrane transporters |
reactome | R-HSA-5655302 | Signaling by FGFR1 in disease |
reactome | R-HSA-5663202 | Diseases of signal transduction |
reactome | R-HSA-5678895 | Defective CFTR causes cystic fibrosis |
reactome | R-HSA-8853336 | Signaling by plasma membrane FGFR1 fusions |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD268 | Cerulenin | 2 |
iGMDRD322 | FK 866 | 2 |
iGMDRD300 | Tozasertib | 1 |
iGMDRD60 | Quinoclamine | 3 |
iGMDRD263 | AACOCF3 | 1 |
iGMDRD506 | Fedratinib | 2 |
iGMDRD577 | BIX01294 | 1 |
iGMDRD286 | Nsc 632839 | 1 |
iGMDRD188 | Piperlongumine | 1 |
iGMDRD872 | BRD7137 | 2 |
iGMDRD705 | Nakiterpiosin | 2 |
iGMDRD255 | SB225002 | 3 |
iGMDRD134 | Sorafenib | 2 |
iGMDRD103 | SN-38 | 6 |
iGMDRD121 | GMX1778 | 2 |
iGMDRD138 | PX 12 | 3 |
iGMDRD251 | ML162 | 3 |
iGMDRD132 | (-)-gallocatechin-3-O-gallate | 2 |
iGMDRD154 | NSC23766 | 4 |
iGMDRD123 | Isoevodiamine | 1 |
iGMDRD679 | Bistramide A | 1 |
iGMDRD152 | 179324-69-7 | 2 |
iGMDRD446 | LY 2183240 | 2 |
iGMDRD494 | Neopeltolide | 2 |
iGMDRD424 | Tamatinib | 1 |
iGMDRD512 | nutlin 3 | 4 |
iGMDRD579 | PF750 | 2 |
iGMDRD126 | Tipifarnib | 2 |
iGMDRD330 | BRD4132 | 2 |
Gene in drug-gene network: Network Plot
![](image/gene_network_legends.png)
Gene-drug targets distribution
Gene Structure: PDB
Models in ERLIN2