SEMA3D

Chr 7q21.11

semaphorin 3D

Aliases:: coll-2, Sema-Z2
MANE:: ENST00000284136.11

OMIM: 609907 ↗NCBI: 223117 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SEMA3D · O95025

v62025-08-01

Predicted Aligned Error matrix for SEMA3D — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.2/ 100

Confident

777 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)20%
Low(50–70)9%
Very low(< 50)10%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Familial Hirschsprung Disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial Meniere Disease
Familial non syndromic congenital heart disease

Disease associations (Open Targets)

alcohol drinking
0.43
Progressive sensorineural hearing impairment
0.34
Hirschsprung disease
0.32
stroke disorder
0.28
glaucoma
0.27
androgenetic alopecia
0.26
diverticular disease
0.26
Abnormality of the skeletal system
0.26
ocular hypotension
0.24
Hirsutism
0.24

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

Protein function (UniProt)

Semaphorin-3D

Induces the collapse and paralysis of neuronal growth cones. Could potentially act as repulsive cues toward specific neuronal populations. Binds to neuropilin (By similarity)