AlphaFold predicted structure
POGZ · Q7Z3K3
Mean pLDDT
57.3/ 100
Low
1,410 residues
Confidence breakdown
- Very high(≥ 90)9%
- Confident(70–90)33%
- Low(50–70)8%
- Very low(< 50)50%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
POGZ
Chr 1q21.3pogo transposable element derived with ZNF domain
- Aliases:
- KIAA0461, ZNF635, ZNF280E
- MANE:
- ENST00000271715.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
0.77Intellectual disability
0.63white-sutton syndrome
0.62autism spectrum disorder
0.57hereditary disease
0.55neurodegenerative disease
0.52neurodevelopmental disorder
0.49microcephaly
0.35Global developmental delay
0.34Smith-Magenis syndrome
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Pogo transposable element with ZNF domain
Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. Probably through its association with CBX5 plays a role in mitotic chromosome segregation by regulating aurora kinase B/AURKB activation and AURKB and CBX5 dissociation from chromosome arms (PubMed:20562864). Promotes the repair of DNA double-strand breaks through the homologous recombination pathway (PubMed:26721387)
Diseases associated with POGZ
Curated MONDO disease pages that list POGZ among their top associated genes.