2024年12月25日 · POGZ (Pogo Transposable Element Derived With ZNF Domain) is a Protein Coding gene. Diseases associated with POGZ include White-Sutton Syndrome and Nail Disease. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is TIGD1.

2021年9月16日 · White-Sutton syndrome is an autosomal dominant disorder typically caused by a de novo pathogenic variant. Most probands reported to date whose parents have undergone molecular genetic testing have the disorder as the result of a de novo POGZ pathogenic variant.

The POGZ gene provides instructions for making a protein that is found in the cell nucleus. The POGZ protein is part of a group known as zinc finger proteins, which contain one or more short regions called zinc finger domains.

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene. [5][6] The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system.

2020年2月26日 · Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental...

Analyses of pogz knockout mice revealed that the POGZ protein promotes chromatin accessibility and expression of clustered synapse genes, and co-occupies loci with ADNP, a gene associated with autism [3].

The mutation, which was found by next-generation sequencing of the POGZ gene in 764 patients with neurodevelopmental disorders, was confirmed by Sanger sequencing and filtered against the Exome Sequencing Project (ESP6500) and 1000 Genomes Project databases and an in-house exome database of about 500 individuals.

Gene ID: 23126, updated on 8-Feb-2025. The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system.

Deleterious genetic variants in POGZ, which encodes the chromatin regulator Pogo Transposable Element with ZNF Domain protein, are strongly associated with autism spectrum disorder (ASD). Although it is a high-confidence ASD risk gene, the neurodevelopmental functions of …

This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017).