| Type | Description |
|---|---|
| Definition | ER lipid raft associated 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-05 12:57:00 | An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18). | 32094424 |
| 2019-03-09 10:56:00 | Biallelic variants in ERLIN2 are known to cause recessive HSP type SPG18. Here, the first two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant are described. These findings expand the mutational and inheritance spectrum of SPG18. | 29528531 |
| 2019-02-16 12:16:00 | Here we suggest that ERLIN1 variants, previously shown in juvenile hereditary spastic paraplegia cases, may also be the cause of a slowly progressive early-onset Amyotrophic lateral sclerosis (ALS) , starting with upper motor neuron features and developing into classical ALS with the addition of lower motor neuron dysfunction. | 29453415 |
| 2017-03-04 12:08:00 | Novel Mutations in Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18 | 27824013 |
| 2015-03-16 13:18:00 | Erlin-2 and the related erlin-1 were found to negatively regulate cholesterol and fatty acid biosynthesis in cultured cell models when the proteins were depleted by The proteins also selectively bound cholesterol. | 24217618 |
| Type | IDs |
|---|---|
| Synonymous | C8orf2, Erlin-2, NET32, SPFH2, SPG18 |
| Gene |
UniProtKB-ID:
ERLN2_HUMAN,
A0A384ME54_HUMAN
UniprotKB:
O94905,
A0A384ME54
UniParc:
UPI0000171C64,
UPI00003507FF,
UPI0000073DE1
EMBL:
AL442077,
AY358851,
BC067765,
GQ891347,
AB018790,
AK297279,
AK291394,
BC005950,
BC048308,
AY358108,
BC050611,
CH471080
Ensembl:
ENSG00000147475
KO:
hsa:11160
|
| Nucleutide sequences |
EMBL-CDS:
EAW63366.1,
EAW63365.1,
BAG59750.1,
CAC09443.1,
BAF84083.1,
BAA36845.1,
AAQ89210.1,
AAQ88475.1,
AAH05950.1,
AAH67765.1,
AAH48308.1,
AAH50611.1,
ADO22209.1
Gene_ORFName:
UNQ2441/PRO5003/PRO9924
Ensembl_TRS:
ENST00000335171,
ENST00000518586,
ENST00000648919,
ENST00000523107,
ENST00000523887,
ENST00000519638
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000335220,
ENSP00000429903,
ENSP00000428112,
ENSP00000427847,
ENSP00000497100,
ENSP00000473292
RefSeq:
NP_001003790.1,
XP_006716343.1,
NP_009106.1,
NP_001003791.1,
NP_001349809.1,
NP_001349807.1,
XP_024302826.1
|
| Others |
UniRef100:
UniRef100_O94905
UniRef90:
UniRef90_O94905
UniRef50:
UniRef50_O94905
UniGene:
Hs.705490
CCDS:
CCDS6095.1,
CCDS34879.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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