This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Function:
RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation.
Subcellular Location:
Cytoplasm. Nucleus. Predominantly cytoplasmic. Nuclear at some stages of spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis.
Tissue Specificity:
Testis specific.
DISEASE:
Defects in DAZ2 may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2) [MIM:43000]. It is a disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility.
Similarity:
Belongs to the RRM DAZ family.
Contains 15 DAZ-like domains.
Contains 1 RRM (RNA recognition motif) domain.
SWISS:
Q13117
Gene ID:
57055
Database links:
Entrez Gene: 57055 Human
Omim: 80026 Human
SwissProt: Q13117 Human
Unigene: 592257 Human
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