DAZAP2

Description

The DAZAP2 (DAZ associated protein 2) is a protein-coding gene located on chromosome 12.

DAZ-associated protein 2 is a protein that in humans is encoded by the DAZAP2 gene. In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region and is deleted in many azoospermic and severely oligospermic men. It is thought that the Y chromosomal DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. DAZAP2 has been shown to interact with DAZ1.

DAZAP2 plays a role in the ubiquitination and degradation of HIPK2 in unstressed cells by acting as a loading factor for SIAH1. Upon DNA damage, DAZAP2 is phosphorylated by HIPK2 and translocates to the nucleus, where it modulates the expression of certain TP53 target genes. This reduces the expression of genes that promote cell death, lessening the impact of DNA damage. Additionally, DAZAP2 enhances the binding of TCF7L2/TCF4 to gene promoters, and participates in stress granule formation.

DAZAP2 is also known as PRTB.

Associated Diseases

WES Whole Exome Sequencing