ERLIN2
entrez
11160
canonical
uniprot
O94905
canonical
ensembl
ENSG00000147475
resolver
ensp
ENSP00000335220
resolver
ensp
ENSP00000428112
resolver
ensp
ENSP00000497100
resolver
ensp
ENSP00000531296
resolver
ensp
ENSP00000531297
resolver
ensp
ENSP00000653161
resolver
genesymbol
ERLIN2
resolver
genesymbol_syn
C8orf2
resolver
genesymbol_syn
SPFH2
resolver
hgnc
HGNC:1356
resolver
uniprot
A0A384ME54
resolver
uniprot
A0JLQ1
resolver
uniprot
A8K5S9
resolver
uniprot
B4DM38
resolver
uniprot
D3DSW0
resolver
uniprot
Q6NW21
resolver
uniprot
Q86VS6
resolver
uniprot
Q86W49
resolver
uniprot_entry
A0A384ME54_HUMAN
resolver
uniprot_entry
ERLN2_HUMAN
resolver
uniprot_sec
A0JLQ1
resolver
uniprot_sec
A8K5S9
resolver
uniprot_sec
B4DM38
resolver
uniprot_sec
D3DSW0
resolver
uniprot_sec
Q6NW21
resolver
uniprot_sec
Q86VS6
resolver
uniprot_sec
Q86W49
resolver
amino_acid_sequence
MAQLGAVVAVASSFFCASLFSAVHKIEEGHIGVYYRGGALLTSTSGPGFHLMLPFITSYKSVQTTLQTDEVKNVPCGTSGGVMIYFDRIEVVNFLVPNAVYDIVKNYTADYDKALIFNKIHHELNQFCSVHTLQEVYIELFDQIDENLKLALQQDLTSMAPGLVIQAVRVTKPNIPEAIRRNYELMESEKTKLLIAAQKQKVVEKEAETERKKALIEAEKVAQVAEITYGQKVMEKETEKKISEIEDAAFLAREKAKADAECYTAMKIAEANKLKLTPEYLQLMKYKAIASNSKIYFGKDIPNMFMDSAGSVSKQFEGLADKLSFGLEDEPLETATKEN
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 18B, autosomal recessive (SPG18B) [MIM:611225]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18B is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures. {ECO:0000269|PubMed:21330303, ECO:0000269|PubMed:27824013, ECO:0000269|PubMed:28832565}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 18A, autosomal dominant (SPG18A) [MIM:620512]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18A is a pure form. Age at onset of symptoms varies considerably from childhood to adulthood. {ECO:0000269|PubMed:29528531, ECO:0000269|PubMed:32094424}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:17502376, PubMed:19240031). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618). {ECO:0000269|PubMed:17502376, ECO:0000269|PubMed:19240031, ECO:0000269|PubMed:21343306, ECO:0000269|PubMed:24217618}.
uniprot
proteins
mass_dalton
37840
uniprot
proteins
mutagenesis
MUTAGEN 106; /note="N->Q: Loss of glycosylation."; /evidence="ECO:0000269|PubMed:17502376
uniprot
proteins
post_translational_modification
PTM: Deubiquitinated by USP25; leading to stabilization. {ECO:0000250|UniProtKB:O75477}.
uniprot
proteins
protein_family
Band 7/mec-2 family
uniprot
proteins
pubmed
10449903
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16835267
uniprot
proteins
pubmed
17502376
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19240031
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21330303
uniprot
proteins
pubmed
21343306
uniprot
proteins
pubmed
21610068
uniprot
proteins
pubmed
24217618
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27824013
uniprot
proteins
pubmed
28832565
uniprot
proteins
pubmed
29528531
uniprot
proteins
pubmed
30352685
uniprot
proteins
pubmed
32094424
uniprot
proteins
sequence_length
339
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16835267, ECO:0000269|PubMed:17502376, ECO:0000269|PubMed:19240031}; Single-pass type II membrane protein {ECO:0000269|PubMed:16835267, ECO:0000269|PubMed:17502376, ECO:0000269|PubMed:19240031}. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.
uniprot
proteins
transmembrane_region
TRANSMEM 4..24; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins