PLXNB2

Chr 22q13.33

plexin B2

Aliases:: MM1, KIAA0315, PLEXB2, lncFAL
MANE:: ENST00000359337.9

OMIM: 604293 ↗NCBI: 23654 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLXNB2 · O15031

v62025-08-01

Predicted Aligned Error matrix for PLXNB2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.5/ 100

Confident

1,838 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)56%
Low(50–70)10%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Intellectual disability
0.52
amelogenesis imperfecta
0.52
sensorineural hearing loss disorder
0.52
Sensorineural hearing impairment
0.51
cutaneous melanoma
0.47
neurodegenerative disease
0.45
hair color
0.44
cancer
0.37
hypertensive disorder
0.36
vein disorder
0.24

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

Protein function (UniProt)

Plexin-B2

Cell surface receptor for SEMA4C, SEMA4D and SEMA4G that plays an important role in cell-cell signaling (By similarity). Plays a role in glutamatergic synapse development and is required for SEMA4A-mediated excitatory synapse development (By similarity). Binding to class 4 semaphorins promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248' (By similarity). Also acts as a cell surface receptor for angiogenin (ANG); promoting ANG endocytosis and translocation to the cytoplasm or nucleus (PubMed:29100074, PubMed:32510170). Required for normal differentiation and migration of neuronal cells during brain corticogenesis and for normal embryonic brain development (By similarity). Regulates the migration of cerebellar granule cells in the developing brain (By similarity). Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton (PubMed:12183458). Plays a role in axon guidance, invasive growth and cell migration (PubMed:15184888). May modulate the activity of RAC1 and CDC42 (By similarity)