LMBRD2

Chr 5p13.2

LMBR1 domain containing 2

Aliases:: DKFZp434H2226
MANE:: ENST00000296603.5

OMIM: 619490 ↗NCBI: 92255 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LMBRD2 · Q68DH5

v62025-08-01

Predicted Aligned Error matrix for LMBRD2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.8/ 100

Confident

695 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)41%
Low(50–70)11%
Very low(< 50)15%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

developmental delay with variable neurologic and brain abnormalities
0.63
neurodegenerative disease
0.48
hereditary disease
0.41
complex neurodevelopmental disorder
0.37
neurodevelopmental disorder
0.35
Motor delay
0.26
pneumococcal pneumonia
0.26
alcohol drinking
0.26
neurodevelopmental disorder with involuntary movements
0.12
skin neoplasm
0.04

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

Protein function (UniProt)

G protein-coupled receptor-associated protein LMBRD2

Recruited to ligand-activated beta-2 adrenergic receptor/ADRB2, it negatively regulates the adrenergic receptor signaling pathway (PubMed:28388415). May also regulate other G protein coupled receptors including type-1 angiotensin II receptor/AGTR1 (Probable)