PLXNB2: Plexin B2

A transmembrane semaphorin receptor involved in axon guidance, immune regulation, and cancer progression

Gene Information Card

Symbol PLXNB2
Full Name plexin B2
Gene Type protein-coding
Chromosomal Location 22q13.33
NCBI Gene ID 23654 ncbi.nlm.nih.gov/gene/23654
Ensembl ID ENSG00000100290
UniProt ID O15031
OMIM ID 604293
HGNC ID 9104
Aliases MM1, PLEXB2, SEMAPHORIN RECEPTOR

Description

PLXNB2 encodes plexin B2, a transmembrane receptor for class 4 semaphorins. It plays critical roles in axon guidance, cell migration, immune response modulation, and tumor progression. The protein interacts with Rho family GTPases to regulate cytoskeletal dynamics and signaling pathways.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) PLXNB2 overexpression or mutation promotes tumor cell migration and invasion via semaphorin signaling COSMIC, PubMed
Immune dysregulation PLXNB2 modulates dendritic cell and T-cell function through semaphorin 4A/4D binding PubMed
Neurodevelopmental disorders Altered PLXNB2 signaling may affect axon guidance and neuronal connectivity OMIM, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.3 Medium
Lung 8.7 Low
Kidney 6.5 Low
Liver 4.2 Low
Testis 15.1 Medium
Cell Line Expression
Cell Line nTPM Notes
HEK293 9.8 Embryonic kidney
A549 7.2 Lung carcinoma
MCF7 5.1 Breast carcinoma
HepG2 3.9 Hepatocellular carcinoma
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412Cys) Missense <0.1% Altered semaphorin binding
c.2567A>G (p.Asn856Ser) Missense <0.1% Unknown functional impact
c.3456_3457insA Frameshift Rare Loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations that truncate the protein or disrupt the semaphorin-binding domain.

Gain of Function (GOF)

Missense mutations that enhance receptor signaling or ligand affinity, potentially promoting oncogenic pathways.

Dominant Negative (DN)

Mutations that produce a truncated receptor interfering with wild-type plexin B2 function.

Gene Ontology (GO)

• semaphorin receptor activity • axon guidance
• cell migration • Rho GTPase binding
• signal transduction • nervous system development

Pathways

Semaphorin signaling
Axon guidance
Rho GTPase cycle
Cancer pathways

Protein Summary

Plexin B2 is a 1,838-amino-acid transmembrane protein with an extracellular semaphorin-binding domain, a single transmembrane helix, and a cytoplasmic region containing a GTPase-activating protein (GAP) domain. It mediates repulsive axon guidance, regulates immune cell interactions, and influences tumor cell invasiveness.

Related Products

Product name Cat.No. Species Gene ID
PLXNB2 Knockout HEK293 Cell Line EDJ-KQ8112 Human 23654 Details Get a Quote
PLXNB2 Knockout A-549 Cell Line EDJ-KQ33989 Human 23654 Details Get a Quote
PLXNB2 Knockout HCT 116 Cell Line EDJ-KQ33990 Human 23654 Details Get a Quote
PLXNB2 Knockout HeLa Cell Line EDJ-KQ33991 Human 23654 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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