AlphaFold predicted structure
ANKS1B · Q7Z6G8
Mean pLDDT
56.9/ 100
Low
1,248 residues
Confidence breakdown
- Very high(≥ 90)19%
- Confident(70–90)22%
- Low(50–70)6%
- Very low(< 50)53%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ANKS1B
Chr 12q23.1ankyrin repeat and sterile alpha motif domain containing 1B
- Aliases:
- EB-1, AIDA-1, cajalin-2, ANKS2
- MANE:
- ENST00000683438.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
alcohol drinking
0.39smoking initiation
0.38cervical carcinoma
0.35schizophrenia
0.35multinodular goiter
0.33bipolar disorder
0.33smoking cessation
0.32musculoskeletal system disorder
0.31stroke disorder
0.31polyp
0.28
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Ankyrin repeat and sterile alpha motif domain-containing protein 1B
Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells
Diseases associated with ANKS1B
Curated MONDO disease pages that list ANKS1B among their top associated genes.