AlphaFold predicted structure
ZBTB18 · Q99592
Mean pLDDT
51.7/ 100
Low
522 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)35%
- Low(50–70)12%
- Very low(< 50)54%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ZBTB18
Chr 1q44zinc finger and BTB domain containing 18
- Aliases:
- C2H2-171, TAZ-1, RP58
- MANE:
- ENST00000358704.4
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
intellectual disability, autosomal dominant 22
0.72hereditary disease
0.53neurodegenerative disease
0.49Intellectual disability
0.48Global developmental delay
0.37complex neurodevelopmental disorder
0.37Neurodevelopmental delay
0.34gram-negative bacterial infections
0.28hypopituitarism
0.27marfanoid habitus and intellectual disability
0.27
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Zinc finger and BTB domain-containing protein 18
Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5'-[AC]ACATCTG[GT][AC]-3' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus