PLXND1 Chromosome 3
Plexin D1
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What This Gene Does
Enables protein domain specific binding activity. Predicted to be involved in several processes, including positive regulation of axonogenesis; semaphorin-plexin signaling pathway; and synapse assembly. Predicted to act upstream of or within circulatory system development; dichotomous subdivision of terminal units involved in salivary gland branching; and kidney development. Located in lamellipodium. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Plexins|IPT domain containing"
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000004399
Associated Conditions (4)
PLXND1-related disorder
Congenital heart defects
multiple types
9
Key Variants
RS149847035
Conflicting classifications of pathogenicity
PLXND1-related disorder, PLXND1-related disorder
Health Risk
RS199609621
Conflicting classifications of pathogenicity
PLXND1-related disorder, PLXND1-related disorder
Health Risk
RS2085270994
Likely pathogenic
Health Risk
RS1458204589
Pathogenic
Congenital heart defects, multiple types, 9
Health Risk
RS2085164025
Pathogenic
Congenital heart defects, multiple types, 9
Health Risk
RS2085270404
Pathogenic
Congenital heart defects, multiple types, 9
Health Risk
RS2533094115
Pathogenic
Congenital heart defects, multiple types, 9
Health Risk
RS2533302580
Pathogenic
Congenital heart defects, multiple types, 9
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149847035 | Health Risk | Conflicting classifications of pathogenicity | PLXND1-related disorder, PLXND1-related disorder |
| RS199609621 | Health Risk | Conflicting classifications of pathogenicity | PLXND1-related disorder, PLXND1-related disorder |
| RS2085270994 | Health Risk | Likely pathogenic | — |
| RS1458204589 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 9 |
| RS2085164025 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 9 |
| RS2085270404 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 9 |
| RS2533094115 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 9 |
| RS2533302580 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 9 |