SEMA3C

Chr 7q21.11

semaphorin 3C

Aliases:: SemE
MANE:: ENST00000265361.8

OMIM: 602645 ↗NCBI: 10512 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SEMA3C · Q99985

v62025-08-01

Predicted Aligned Error matrix for SEMA3C — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.7/ 100

Confident

751 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)13%
Low(50–70)10%
Very low(< 50)8%

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

Disease associations (Open Targets)

atrial fibrillation
0.50
neurodegenerative disease
0.45
coronary artery disorder
0.44
glaucoma
0.43
open-angle glaucoma
0.42
ovarian dysfunction
0.39
inborn disorder of amino acid metabolism
0.32
atrial septal defect
0.29
subarachnoid hemorrhage
0.28
alopecia areata
0.28

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

Protein function (UniProt)

Semaphorin-3C

Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity)

Curated MONDO disease pages that list SEMA3C among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with SEMA3C