DAZ3 gene

deleted in azoospermia 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation.

From NCBI Gene:

  • Spermatogenic failure, Y-linked 2

From UniProt:

Spermatogenic failure Y-linked 2 (SPGFY2): A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. [MIM:415000]

Cytogenetic Location: Yq11.23, which is the long (q) arm of the Y chromosome at position 11.23

Molecular Location: base pairs 24,763,069 to 24,813,492 on the Y chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Yq11.23, which is the long (q) arm of the Y chromosome at position 11.23
  • pDP1679