DAZ2

Deleted in azoospermia protein 2 is a protein that in humans is encoded by the DAZ2 gene.[5][6]

DAZ2
Identifiers
Aliases	DAZ2, pDP1678, deleted in azoospermia 2
External IDs	OMIM: 400026 MGI: 1342328 HomoloGene: 86954 GeneCards: DAZ2
Gene location (Human) Chr. Y chromosome (human)[1] Band Yq11.223 Start 23,219,434 bp[1] End 23,291,356 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 C|17 25.86 cM Start 50,279,395 bp[2] End 50,293,636 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • RNA binding • nucleic acid binding • translation activator activity • GO:0001948 protein binding • mRNA binding • mRNA 3'-UTR binding Cellular component • cell nucleus • cytoplasm • intracellular • macromolecular complex Biological process • multicellular organism development • cell differentiation • spermatogenesis • single fertilization • positive regulation of translational initiation • 3'-UTR-mediated mRNA stabilization • germ cell development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57055	13164
Ensembl	ENSG00000205944	ENSMUSG00000010592
UniProt	Q13117	Q64368
RefSeq (mRNA)	NM_020363 NM_001005785 NM_001005786	NM_001277863 NM_010021
RefSeq (protein)	NP_001005785 NP_001005786 NP_065096	NP_001264792 NP_034151
Location (UCSC)	Chr Y: 23.22 – 23.29 Mb	Chr 17: 50.28 – 50.29 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000205944 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000010592 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC (Sep 2000). "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome". Genomics. 67 (3): 256–67. doi:10.1006/geno.2000.6260. PMID 10936047.
6. "Entrez Gene: DAZ2 deleted in azoospermia 2".

Further reading

• Foresta C, Ferlin A, Moro E, et al. (2002). "[Microdeletion of chromosome Y in male infertility: role of the DAZ gene]". Ann. Ital. Med. Int. 16 (2): 82–92. PMID 11688365.
• Fox MS, Reijo Pera RA (2002). "Male infertility, genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair". Mol. Cell. Endocrinol. 184 (1–2): 41–9. doi:10.1016/S0303-7207(01)00646-3. PMID 11694340.
• Vogt PH, Fernandes S (2003). "Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis?". APMIS. 111 (1): 115–26, discussion 126–7. doi:10.1034/j.1600-0463.2003.11101161.x. PMID 12752250.
• Reijo R, Lee TY, Salo P, et al. (1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nat. Genet. 10 (4): 383–93. doi:10.1038/ng0895-383. PMID 7670487.
• Saxena R, Brown LG, Hawkins T, et al. (1996). "The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned". Nat. Genet. 14 (3): 292–9. doi:10.1038/ng1196-292. PMID 8896558.
• Yen PH, Chai NN, Salido EC (1997). "The human autosomal gene DAZLA: testis specificity and a candidate for male infertility". Hum. Mol. Genet. 5 (12): 2013–7. doi:10.1093/hmg/5.12.2013. PMID 8968756.
• Yen PH, Chai NN, Salido EC (1997). "The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions". Mamm. Genome. 8 (10): 756–9. doi:10.1007/s003359900560. PMID 9321470.
• Habermann B, Mi HF, Edelmann A, et al. (1998). "DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails". Hum. Reprod. 13 (2): 363–9. doi:10.1093/humrep/13.2.363. PMID 9557839.
• Agulnik AI, Zharkikh A, Boettger-Tong H, et al. (1998). "Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations". Hum. Mol. Genet. 7 (9): 1371–7. doi:10.1093/hmg/7.9.1371. PMID 9700189.
• Tsui S, Dai T, Roettger S, et al. (2000). "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1". Genomics. 65 (3): 266–73. doi:10.1006/geno.2000.6169. PMID 10857750.
• Ruggiu M, Cooke HJ (2000). "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein". Gene. 252 (1–2): 119–26. doi:10.1016/S0378-1119(00)00219-5. PMID 10903443.
• Reijo RA, Dorfman DM, Slee R, et al. (2000). "DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice". Biol. Reprod. 63 (5): 1490–6. doi:10.1095/biolreprod63.5.1490. PMID 11058556.
• Moro E, Ferlin A, Yen PH, et al. (2000). "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome". J. Clin. Endocrinol. Metab. 85 (11): 4069–73. doi:10.1210/jc.85.11.4069. PMID 11095434.
• Xu EY, Moore FL, Pera RA (2001). "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7414–9. doi:10.1073/pnas.131090498. PMC 34683. PMID 11390979.
• Friel A, Houghton JA, Glennon M, et al. (2002). "A preliminary report on the implication of RT-PCR detection of DAZ, RBMY1, USP9Y and Protamine-2 mRNA in testicular biopsy samples from azoospermic men". Int. J. Androl. 25 (1): 59–64. doi:10.1046/j.1365-2605.2002.00326.x. PMID 11869379.
• Fernandes S, Huellen K, Goncalves J, et al. (2002). "High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia". Mol. Hum. Reprod. 8 (3): 286–98. doi:10.1093/molehr/8.3.286. PMID 11870237.
• Ferlin A, Moro E, Rossi A, Foresta C (2002). "A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men". J. Endocrinol. Invest. 25 (1): RC1–3. doi:10.1007/bf03343952. PMID 11883873.