full name
ER lipid raft associated 2

synonyms
C8orf2, Erlin-2, NET32, SPFH2, SPG18, ERLIN2, ENSG00000147475

HGNC
HGNC:1356

Entrez Gene
Gene:11160

ENSEMBL
ENSG00000147475

location
chr: 8
start: 37593743
stop: 37615319
strand: +

OMIM
OMIM:611605: ERLIN2 (Autosomal recessive inheritance)
OMIM:611225: Spastic paraplegia 18, autosomal recessive

transcripts
NM_007175.6
NM_001003791.2
NM_001003790.3

pathways
ABC transporter disorders [NCBI:1268933] [REACTOME:R-HSA-5619084] [PUBMED:21740521] [PUBMED:16399363] [PUBMED:23415156] [PUBMED:21389634] [PUBMED:21488864] [PUBMED:21554546]
ABC-family proteins mediated transport [NCBI:1269904] [REACTOME:R-HSA-382556] [PUBMED:11435397] [PUBMED:12045106] [PUBMED:19234479]
Defective CFTR causes cystic fibrosis [NCBI:1268934] [REACTOME:R-HSA-5678895] [PUBMED:16126935] [PUBMED:22650116] [PUBMED:2570460] [PUBMED:21652558]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of signal transduction [NCBI:1268855] [REACTOME:R-HSA-5663202] [PUBMED:12509752]
Disorders of transmembrane transporters [NCBI:1268932] [REACTOME:R-HSA-5619115] [PUBMED:16399363]
FGFR1 mutant receptor activation [NCBI:1268865] [REACTOME:R-HSA-1839124] [PUBMED:17552943] [PUBMED:21367659] [PUBMED:21711248] [PUBMED:9538690] [PUBMED:20094046] [PUBMED:9154000]
Signaling by FGFR in disease [NCBI:1268863] [REACTOME:R-HSA-1226099] [PUBMED:17552943] [PUBMED:10053006] [PUBMED:8640234] [PUBMED:9865713] [PUBMED:21367659] [PUBMED:10471491] [PUBMED:21711248] [PUBMED:9538690] [PUBMED:20094046] [PUBMED:9539778] [PUBMED:12461689] [PUBMED:9438390] [PUBMED:8841188] [PUBMED:11055896] [PUBMED:8599935] [PUBMED:21160078] [PUBMED:9207791] [PUBMED:9154000] [PUBMED:18381441] [PUBMED:20179196] [PUBMED:8755573] [PUBMED:20226962] [PUBMED:8798788] [PUBMED:19066716] [PUBMED:17505008] [PUBMED:11429702]
Signaling by FGFR1 in disease [NCBI:1268864] [REACTOME:R-HSA-5655302] [PUBMED:24588013] [PUBMED:20094046] [PUBMED:18056464] [PUBMED:18772890] [PUBMED:14613973] [PUBMED:7874169] [PUBMED:9154000] [PUBMED:20226962] [PUBMED:16140923] [PUBMED:17552943] [PUBMED:21367659] [PUBMED:21711248] [PUBMED:9538690]
Signaling by plasma membrane FGFR1 fusions [NCBI:1383044] [REACTOME:R-HSA-8853336] [PUBMED:22837387] [PUBMED:24588013] [PUBMED:23558953] [PUBMED:24850843]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]