SPTBN1

Chr 2p16.2

spectrin beta, non-erythrocytic 1

MANE:: ENST00000356805.9

OMIM: 182790 ↗NCBI: 6711 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SPTBN1 · Q01082

v62025-08-01

Predicted Aligned Error matrix for SPTBN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.9/ 100

Confident

2,364 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)70%
Low(50–70)11%
Very low(< 50)10%

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, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

developmental delay, impaired speech, and behavioral abnormalities
0.80
cancer
0.60
hereditary disease
0.52
neurodevelopmental disorder
0.45
Abnormality of the skeletal system
0.44
hearing loss disorder
0.42
presbycusis
0.39
open-angle glaucoma
0.38
bone fracture
0.37
complex neurodevelopmental disorder
0.37

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

Protein function (UniProt)

Spectrin beta chain, non-erythrocytic 1

Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous system development and function