DAZ2
Description
The DAZ2 (deleted in azoospermia 2) is a protein-coding gene located on chromosome Y.
The DAZ2 gene encodes Deleted in azoospermia protein 2, a key player in human spermatogenesis. It belongs to the DAZ gene family and is a candidate for the AZF (azoospermia factor) on the Y chromosome. DAZ2 expression is limited to premeiotic germ cells, particularly spermatogonia, where it acts as an RNA-binding protein. Four copies of the DAZ2 gene reside on the Y chromosome within palindromic duplications, with two pairs located in the P2 and P1 palindromes. Each gene includes a 2.4 kb repeat containing a 72-bp exon, known as the DAZ repeat, with variations in the number and sequence of these repeats. Additionally, each copy contains a 10.8 kb region, potentially amplifiable, encompassing five exons that encode an RNA recognition motif (RRM) domain. DAZ2 has one copy of this 10.8 kb repeat and undergoes alternative splicing, leading to multiple transcript variants and distinct isoforms.
DAZ2 is an RNA-binding protein that plays a critical role in spermatogenesis. It is believed to regulate the translation of mRNAs by binding to their 3'-untranslated regions (3'-UTRs).
DAZ2 is also known as pDP1678.
