DAZL
deleted in azoospermia like
Summary
The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs370134721 | 3:16,633,569 | A/T | — | uncertain significance |
| rs377332785 | 3:16,633,642 | C/T | — | uncertain significance |
| rs57842038 | 3:16,633,664 | C/T | — | benign |
| rs768870529 | 3:16,635,172 | C/T | — | uncertain significance |
| rs376220209 | 3:16,635,199 | T/C | — | uncertain significance |
| rs2546471751 | 3:16,635,235 | G/A | — | uncertain significance |
| rs202023527 | 3:16,635,254 | G/T | — | uncertain significance |
| rs371852241 | 3:16,636,084 | G/A | — | uncertain significance |
| rs1301956798 | 3:16,636,090 | T/A | — | uncertain significance |
| rs6787063 | 3:16,636,465 | C/G | intron variant | — |
| rs748066712 | 3:16,636,839 | C/T | — | likely benign |
| rs369007495 | 3:16,636,843 | T/C | — | uncertain significance |
| rs772572791 | 3:16,636,859 | C/A | — | uncertain significance |
| rs2546475472 | 3:16,638,261 | A/G | — | uncertain significance |
| rs2546475567 | 3:16,638,320 | A/C | — | uncertain significance |
| rs115317726 | 3:16,638,350 | A/G | — | benign |
| rs1007878255 | 3:16,638,357 | T/C | — | uncertain significance |
| rs202014772 | 3:16,638,360 | T/C | — | uncertain significance |
| rs767685903 | 3:16,638,549 | T/G | — | uncertain significance |
| rs2546477137 | 3:16,639,605 | A/T | — | association |
| rs2546477191 | 3:16,639,639 | A/T | — | likely pathogenic |
| rs2546477194 | 3:16,639,643 | A/T | — | benign |
| rs1367937384 | 3:16,639,651 | C/T | — | uncertain significance |
| rs2546477220 | 3:16,639,671 | C/G | — | benign |
| rs121918346 | 3:16,639,676 | T/C | missense variant | risk factor |
| rs11710967 | 3:16,640,075 | T/C | — | benign |
| rs2546477782 | 3:16,640,102 | T/C | — | likely benign |
| rs188966680 | 3:16,645,993 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.