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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:611605 Ensembl IDEnsembl:ENSG00000147475 HGNC IDHGNC:HGNC:1356 PHARMGKB IDPA25961 Map Location8p11.23 |
GO terms in ERLIN2
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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 |
Gene expression in normal tissue: ERLIN2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ERLIN2
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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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in ERLIN2
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |