KDELR2

Chr 7p22.1

KDEL endoplasmic reticulum protein retention receptor 2

Aliases:: ELP-1, ERD2.2
MANE:: ENST00000258739.9

OMIM: 609024 ↗NCBI: 11014 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KDELR2 · P33947

v62025-08-01

Predicted Aligned Error matrix for KDELR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.0/ 100

Very high

212 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)15%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

osteogenesis imperfecta, type 21
0.76
Increased susceptibility to fractures
0.46
scoliosis
0.46
Joint hypermobility
0.46
atopic eczema
0.40
osteoarthritis
0.38
osteogenesis imperfecta
0.37
inflammatory bowel disease
0.25
Crohn disease
0.25
neoplasm
0.09

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

Protein function (UniProt)

ER lumen protein-retaining receptor 2

Membrane receptor that binds the K-D-E-L sequence motif in the C-terminal part of endoplasmic reticulum resident proteins and maintains their localization in that compartment by participating to their vesicle-mediated recycling back from the Golgi (PubMed:1325562, PubMed:18086916, PubMed:33053334). Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity)