PLXND1

Chr 3q22.1

plexin D1

Aliases:: KIAA0620
MANE:: ENST00000324093.9

OMIM: 604282 ↗NCBI: 23129 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLXND1 · Q9Y4D7

v62025-08-01

Predicted Aligned Error matrix for PLXND1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.9/ 100

Confident

1,925 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)57%
Low(50–70)11%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal
Familial non syndromic congenital heart disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

congenital heart defects, multiple types, 9
0.60
Truncus arteriosus
0.56
Moebius syndrome
0.48
type 2 diabetes mellitus
0.47
diabetes mellitus
0.41
persistent truncus arteriosus
0.39
coronary artery disorder
0.37
metabolic syndrome
0.31
Abnormality of the skeletal system
0.30
Headache
0.29

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

Protein function (UniProt)

Plexin-D1

Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature (By similarity). Mediates anti-angiogenic signaling in response to SEMA3E