PLXND1
Plexin D1: A Semaphorin Receptor in Axon Guidance and Immune Regulation
Gene Information Card
| Symbol | PLXND1 |
|---|---|
| Full Name | plexin D1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 23129 ncbi.nlm.nih.gov/gene/23129 |
| Ensembl ID | ENSG00000104331 |
| UniProt ID | Q9Y4D7 |
| OMIM ID | 604282 |
| HGNC ID | 9107 |
| Aliases | PLXN, PLEXD1, plexin D1 |
Description
PLXND1 encodes plexin D1, a transmembrane receptor for class 3 semaphorins, particularly SEMA3E. It plays critical roles in axon guidance, cardiovascular development, and immune cell migration. Mutations and altered expression are linked to cancer progression, congenital heart defects, and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PLXND1 expression affects tumor angiogenesis and metastasis via SEMA3E signaling. | NCBI Gene, COSMIC |
| Congenital heart defects | Loss-of-function mutations disrupt cardiac neural crest cell migration. | OMIM, ClinVar |
| Immune dysregulation | PLXND1 mediates dendritic cell and T-cell migration; defects impair immune response. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Brain | 6.7 | Low |
| Kidney | 5.4 | Low |
| Placenta | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 15.0 | Endothelial cells; high expression |
| HEK 293 | 3.2 | Low expression |
| HeLa | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with congenital heart defects |
| c.567G>A (p.Gly189Arg) | Missense | <0.1% | Unknown significance; reported in cancer |
| c.2345_2346del (p.Leu782fs) | Frameshift | <0.1% | Loss of function; reported in immune disorders |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing semaphorin signaling.
Gain of Function (GOF)
Not well documented; some missense variants may enhance signaling in cancer.
Dominant Negative (DN)
Not reported for PLXND1.
View complete mutation data：
Gene Ontology (GO)
| • semaphorin receptor activity | • axon guidance |
| • cell migration | • angiogenesis |
| • immune response |
Pathways
• Semaphorin signaling
• Axon guidance
• VEGF signaling
Protein Summary
Plexin D1 is a 213 kDa transmembrane protein with a large extracellular domain containing Sema, PSI, and IPT domains, and a cytoplasmic domain with a GTPase-activating protein (GAP) domain. It binds SEMA3E to regulate cytoskeletal dynamics, cell adhesion, and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLXND1 Knockout HEK293 Cell Line | EDJ-KQ7843 | Human | 23129 | Details Get a Quote |
| PLXND1 Knockout HCT 116 Cell Line | EDJ-KQ32069 | Human | 23129 | Details Get a Quote |
| PLXND1 Knockout A-549 Cell Line | EDJ-KQ33394 | Human | 23129 | Details Get a Quote |
| PLXND1 Knockout HeLa Cell Line | EDJ-KQ33395 | Human | 23129 | Details Get a Quote |
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