deleted in azoospermia protein 2 (DAZ2)

Function

• RNA-binding protein
• role in spermatogenesis
• binds to 3'UTR of mRNAs & regulating their translation (putative)
• forms a heterodimer with BOLL & DAZL
• interacts with PUM2, DAZAP1, DAZAP2, DZIP1 & DZIP3
• DAZ-like repeats mediate interaction with DAZAP1 & DAZAP2

Structure

• belongs to the RNP DAZ family
• contains 15 DAZ-like domains
  • contains 1 RRM domain (RNA recognition motif)

Compartment

• cytoplasm, nucleus
• predominantly cytoplasmic
• nuclear at some stages of spermatozoide development
• nuclear in fetal gonocytes & in spermatogonial nuclei
• relocates to cytoplasm during male meiosis

Alternative splicing

named isoforms=3

Expression

testis specific

Pathology

• AZFc deletions in the Yq11.23 region, including the DAZ genes are associated with azoospermia or oligospermia

Polymorphism

probable

More general terms

• RNA-binding protein
• DAZ protein (deleted in azoospermia protein)

Database

• OMIM: https://mirror.omim.org/entry/400026
• OMIM: https://mirror.omim.org/entry/415000
• UniProt: http://www.uniprot.org/uniprot/Q13117.html