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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

Gene Categories:

TYROSINE KINASE KINASE

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

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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

Gene-drug targets distribution

Gene Structure: PDB

Models in ERLIN2

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DATATYPES

CLASSFICATION

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