ERLIN2

Chr 8p11.23

ER lipid raft associated 2

Aliases:: NET32, Erlin-2
MANE:: ENST00000519638.3

OMIM: 611605 ↗NCBI: 11160 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ERLIN2 · O94905

v62025-08-01

Predicted Aligned Error matrix for ERLIN2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.1/ 100

Confident

339 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)17%
Low(50–70)3%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary spastic paraplegia 18
0.75
Autosomal recessive spastic paraplegia type 18
0.72
hereditary spastic paraplegia
0.63
spastic paraplegia 18b, autosomal recessive
0.62
cancer
0.59
autosomal dominant complex spastic paraplegia
0.57
bone development disease
0.56
Spastic paraplegia
0.54
Neurodegeneration
0.50
neurodegenerative disease
0.50

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Erlin-2

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)

Curated MONDO disease pages that list ERLIN2 among their top associated genes.

hereditary spastic paraplegiaRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with ERLIN2