AlphaFold predicted structure
SEC23B · Q15437
Mean pLDDT
92.3/ 100
Very high
767 residues
Confidence breakdown
- Very high(≥ 90)86%
- Confident(70–90)9%
- Low(50–70)3%
- Very low(< 50)3%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SEC23B
Chr 20p11.23SEC23 homolog B, COPII component
- Aliases:
- CDA-II, CDAII, HEMPAS
- MANE:
- ENST00000650089.1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalRare anaemia
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalAutoinflammatory disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
congenital dyserythropoietic anemia type 2
0.83Congenital dyserythropoietic anemia type II
0.82Cowden syndrome 7
0.73congenital dyserythropoietic anemia
0.44Cowden disease
0.38hereditary disease
0.19mitochondrial disease
0.12hereditary ataxia
0.12neoplasm
0.06immunoglobulin G4-related sclerosing disease
0.05
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein transport protein Sec23B
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex