SEMA6B

Chr 19p13.3

semaphorin 6B

Aliases:: semaZ, SEMA-VIB, SEM-SEMA-Z
MANE:: ENST00000586582.6

OMIM: 608873 ↗NCBI: 10501 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SEMA6B · Q9H3T3

v62025-08-01

Predicted Aligned Error matrix for SEMA6B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.8/ 100

Confident

888 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)13%
Low(50–70)5%
Very low(< 50)32%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

epilepsy, progressive myoclonic, 11
0.69
Intellectual disability
0.45
progressive myoclonus epilepsy
0.37
autosomal dominant non-syndromic intellectual disability
0.37
epilepsy with myoclonic atonic seizures
0.27
Shock
0.24
hereditary disease
0.19
neurodevelopmental disorder
0.19
Retinal dystrophy
0.18
optic atrophy
0.15

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

Protein function (UniProt)

Semaphorin-6B

Functions as a cell surface repellent for mossy fibers of developing neurons in the hippocampus where it plays a role in axon guidance. May function through the PLXNA4 receptor expressed by mossy cell axons