DAZ2

DAZ2
Identifiers
Aliases	DAZ2,pDP1678, deleted in azoospermia 2
External IDs	OMIM:400026;MGI:1342328;HomoloGene:86954;GeneCards:DAZ2;OMA:DAZ2 - orthologs
Gene location (Human) Chr. Y chromosome (human) Band Yq11.223 Start 23,219,434bp End 23,291,356bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 C|17 25.86 cM Start 50,586,423bp End 50,600,664bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in gonad testicle right testis left testis body of stomach fundus right lobe of liver Achilles tendon skin of abdomen urinary bladder Top expressed in spermatocyte spermatid egg cell Gonadal ridge secondary oocyte zygote primary oocyte seminiferous tubule ovary morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA binding nucleic acid binding translation activator activity protein binding mRNA binding mRNA 3'-UTR binding Cellular component nucleus cytoplasm intracellular anatomical structure protein-containing 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: 50.59 – 50.6 Mb PubMedsearch
Wikidata
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Deleted in azoospermia protein 2is aproteinthat in humans is encoded by theDAZ2gene.

This gene is a member of theDAZ gene familyand is a candidate for the human Y-chromosomalazoospermia factor(AZF). Itsexpressionis restricted to premeioticgerm cells,particularly inspermatogonia.It encodes an RNA-binding protein that is important forspermatogenesis.Four copies of this gene are found onchromosome Ywithin 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 fiveexonsthat encode anRNA recognition motif(RRM) domain. This gene contains one copy of the 10.8 kb repeat.Alternative splicingresults in multiple transcript variants encoding differentisoforms.

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.PMID11688365.
• 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.PMID11694340.S2CID54277826.
• 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.PMID12752250.S2CID41326783.
• 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.PMID7670487.S2CID2917750.
• 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.PMID8896558.S2CID34964224.
• 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.PMID8968756.
• 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.PMID9321470.S2CID33258251.
• 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.PMID9557839.
• 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.PMID9700189.
• 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.PMID10857750.
• 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.PMID10903443.
• 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.PMID11058556.
• 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/jcem.85.11.6929.PMID11095434.
• 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.Bibcode:2001PNAS...98.7414Y.doi:10.1073/pnas.131090498.PMC34683.PMID11390979.
• 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.PMID11869379.
• 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.PMID11870237.
• 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.PMID11883873.S2CID24737444.