SPTB

Chr 14q23.3

spectrin beta, erythrocytic

MANE:: ENST00000644917.1

OMIM: 182870 ↗NCBI: 6710 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SPTB · P11277

v62025-08-01

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

Mean pLDDT

79.2/ 100

Confident

2,137 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)72%
Low(50–70)10%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cytopenias and congenital anaemias
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hereditary elliptocytosis
0.79
hereditary spherocytosis
0.79
Congenital hemolytic anemia
0.61
hematologic disorder
0.59
non-autoimmune hemolytic anemia
0.58
splenic disorder
0.57
Spherocytosis
0.54
immune system disorder
0.49
Pyropoikilocytosis
0.38
pyropoikilocytosis, hereditary
0.38

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

Protein function (UniProt)

Spectrin beta chain, erythrocytic

Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane

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

immune system disorderRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with SPTB