PLCB4

Chr 20p12.3-p12.2

phospholipase C beta 4

MANE:: ENST00000378473.9

OMIM: 600810 ↗NCBI: 5332 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLCB4 · Q15147

v62025-08-01

Predicted Aligned Error matrix for PLCB4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.4/ 100

Confident

1,175 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)23%
Low(50–70)3%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness and congenital structural abnormalities
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

auriculocondylar syndrome
0.79
hereditary disease
0.47
auriculocondylar syndrome 2B
0.46
alcohol drinking
0.36
uveal melanoma
0.34
Ocular melanocytosis
0.34
familial hypercholesterolemia
0.33
stroke disorder
0.30
placental abruption
0.28
Abnormal facial shape
0.27

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

Protein function (UniProt)

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4

Activated phosphatidylinositol-specific phospholipase C enzymes catalyze the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) involved in G protein-coupled receptor signaling pathways. PLCB4 is a direct effector of the endothelin receptor signaling pathway that plays an essential role in lower jaw and middle ear structures development (PubMed:35284927)