DAZ2_HUMAN
ID DAZ2_HUMAN Reviewed; 558 AA.
AC Q13117; Q2KHN6; Q96P41; Q9NR91;
DT 01-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 16-DEC-2008, sequence version 3.
DT 03-AUG-2022, entry version 182.
DE RecName: Full=Deleted in azoospermia protein 2;
GN Name=DAZ2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=7670487; DOI=10.1038/ng0895-383;
RA Reijo R.A., Lee T.Y., Salo P., Alagappan R., Brown L.G., Rosenberg M.,
RA Rozen S., Jaffe T., Straus D., Hovatta O., de la Chapelle A., Silber S.,
RA Page D.C.;
RT "Diverse spermatogenic defects in humans caused by Y chromosome deletions
RT encompassing a novel RNA-binding protein gene.";
RL Nat. Genet. 10:383-393(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), GENE STRUCTURE, GENE NOMENCLATURE,
RP AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=10936047; DOI=10.1006/geno.2000.6260;
RA Saxena R., de Vries J.W.A., Repping S., Alagappan R.K., Skaletsky H.,
RA Brown L.G., Ma P., Chen E., Hoovers J.M.N., Page D.C.;
RT "Four DAZ genes in two clusters found in the AZFc region of the human Y
RT chromosome.";
RL Genomics 67:256-267(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Testis;
RA Vogt P.H., Hirschmann P.;
RT "DAZ2 gene testicular transcript with 14 exon 7 variants expressed in human
RT testicular tissue.";
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12815422; DOI=10.1038/nature01722;
RA Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L.W.,
RA Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A.,
RA Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R.,
RA Graves T.A., Hou S.-F., Latrielle P., Leonard S., Mardis E., Maupin R.,
RA McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S.,
RA Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.-P.,
RA Waterston R.H., Wilson R.K., Rozen S., Page D.C.;
RT "The male-specific region of the human Y chromosome is a mosaic of discrete
RT sequence classes.";
RL Nature 423:825-837(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INTERACTION WITH DAZAP1 AND DAZAP2.
RX PubMed=10857750; DOI=10.1006/geno.2000.6169;
RA Tsui S., Dai T., Roettger S., Schempp W., Salido E.C., Yen P.H.;
RT "Identification of two novel proteins that interact with germ-cell-specific
RT RNA-binding proteins DAZ and DAZL1.";
RL Genomics 65:266-273(2000).
RN [7]
RP SUBCELLULAR LOCATION.
RX PubMed=11058556; DOI=10.1095/biolreprod63.5.1490;
RA Reijo R.A., Dorfman D.M., Slee R., Renshaw A.A., Loughlin K.R., Cooke H.,
RA Page D.C.;
RT "DAZ family proteins exist throughout male germ cell development and
RT transit from nucleus to cytoplasm at meiosis in humans and mice.";
RL Biol. Reprod. 63:1490-1496(2000).
RN [8]
RP INTERACTION WITH DAZL.
RX PubMed=10903443; DOI=10.1016/s0378-1119(00)00219-5;
RA Ruggiu M., Cooke H.J.;
RT "In vivo and in vitro analysis of homodimerisation activity of the mouse
RT Dazl1 protein.";
RL Gene 252:119-126(2000).
RN [9]
RP INTERACTION WITH BOLL.
RX PubMed=11390979; DOI=10.1073/pnas.131090498;
RA Xu E.Y., Moore F.L., Reijo Pera R.A.;
RT "A gene family required for human germ cell development evolved from an
RT ancient meiotic gene conserved in metazoans.";
RL Proc. Natl. Acad. Sci. U.S.A. 98:7414-7419(2001).
RN [10]
RP INTERACTION WITH PUM2; DZIP1 AND DZIP3.
RX PubMed=12511597; DOI=10.1073/pnas.0234478100;
RA Moore F.L., Jaruzelska J., Fox M.S., Urano J., Firpo M.T., Turek P.J.,
RA Dorfman D.M., Reijo Pera R.A.;
RT "Human Pumilio-2 is expressed in embryonic stem cells and germ cells and
RT interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:538-543(2003).
RN [11]
RP REVIEW.
RX PubMed=12752250; DOI=10.1034/j.1600-0463.2003.11101161.x;
RA Vogt P.H., Fernandes S.;
RT "Polymorphic DAZ gene family in polymorphic structure of AZFc locus:
RT artwork or functional for human spermatogenesis?";
RL APMIS 111:115-127(2003).
RN [12]
RP INVOLVEMENT IN SPGFY2.
RX PubMed=11095434; DOI=10.1210/jcem.85.11.6929;
RA Moro E., Ferlin A., Yen P.H., Franchi P.G., Palka G., Foresta C.;
RT "Male infertility caused by a de novo partial deletion of the DAZ cluster
RT on the Y chromosome.";
RL J. Clin. Endocrinol. Metab. 85:4069-4073(2000).
RN [13]
RP INVOLVEMENT IN SPGFY2.
RX PubMed=11870237; DOI=10.1093/molehr/8.3.286;
RA Fernandes S., Huellen K., Goncalves J., Dukal H., Zeisler J.,
RA Rajpert De Meyts E., Skakkebaek N.E., Habermann B., Krause W., Sousa M.,
RA Barros A., Vogt P.H.;
RT "High frequency of DAZ1/DAZ2 gene deletions in patients with severe
RT oligozoospermia.";
RL Mol. Hum. Reprod. 8:286-298(2002).
RN [14]
RP INVOLVEMENT IN SPGFY2.
RX PubMed=12801575; DOI=10.1016/s0015-0282(03)00338-8;
RA Gianotten J., Hoffer M.J.V., De Vries J.W.A., Leschot N.J., Gerris J.,
RA van der Veen F.;
RT "Partial DAZ deletions in a family with five infertile brothers.";
RL Fertil. Steril. 79:1652-1655(2003).
CC -!- FUNCTION: RNA-binding protein that plays an essential role in
CC spermatogenesis. May act by binding to the 3'-UTR of mRNAs and
CC regulating their translation.
CC -!- SUBUNIT: Forms a heterodimer with BOLL and DAZL. Interacts with PUM2,
CC DAZAP1, DAZAP2, DZIP1 and DZIP3. {ECO:0000269|PubMed:10857750,
CC ECO:0000269|PubMed:10903443, ECO:0000269|PubMed:11390979,
CC ECO:0000269|PubMed:12511597}.
CC -!- INTERACTION:
CC Q13117-3; P54253: ATXN1; NbExp=3; IntAct=EBI-13357576, EBI-930964;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11058556}. Nucleus
CC {ECO:0000269|PubMed:11058556}. Note=Predominantly cytoplasmic. Nuclear
CC at some stages of spermatozoide development. Localizes both to the
CC nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal
CC gonocytes and in spermatogonial nuclei. It then relocates to the
CC cytoplasm during male meiosis.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q13117-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q13117-2; Sequence=VSP_009452;
CC Name=3;
CC IsoId=Q13117-3; Sequence=VSP_009453;
CC -!- TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:10936047}.
CC -!- DOMAIN: The DAZ domains are essential and mediate the interaction with
CC DAZAP1 and DAZAP2.
CC -!- POLYMORPHISM: The number as well as the precise structure of the DAZ
CC proteins probably differs within the population.
CC {ECO:0000305|PubMed:12752250}.
CC -!- DISEASE: Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A
CC disorder resulting in the absence (azoospermia) or reduction
CC (oligozoospermia) of sperm in the semen, leading to male infertility.
CC {ECO:0000269|PubMed:11095434, ECO:0000269|PubMed:11870237,
CC ECO:0000269|PubMed:12801575}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry. AZFc deletions
CC in the Yq11.23 region including the DAZ genes are the most common known
CC genetic cause of human male infertility.
CC -!- MISCELLANEOUS: The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all
CC encoded by a strongly repeated region of the Y chromosome, in two
CC clusters each comprising an inverted pair of DAZ genes. They are very
CC similar, which gives their indidual characterization difficult. Thus,
CC most experiments do not discriminate between the different members. One
CC can therefore suppose that reported interactions with a DAZ protein
CC involve all the 4 proteins.
CC -!- SIMILARITY: Belongs to the RRM DAZ family. {ECO:0000255|PROSITE-
CC ProRule:PRU01238}.
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DR EMBL; U21663; AAB02393.1; -; mRNA.
DR EMBL; AF248480; AAF91329.1; -; mRNA.
DR EMBL; AF414184; AAL24502.1; -; mRNA.
DR EMBL; AC006338; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC113006; AAI13007.1; -; mRNA.
DR CCDS; CCDS35485.1; -. [Q13117-1]
DR CCDS; CCDS48210.1; -. [Q13117-3]
DR CCDS; CCDS65375.1; -. [Q13117-2]
DR PIR; I38963; I38963.
DR RefSeq; NP_001005785.1; NM_001005785.2. [Q13117-3]
DR RefSeq; NP_001005786.2; NM_001005786.2.
DR RefSeq; NP_065096.2; NM_020363.3. [Q13117-1]
DR AlphaFoldDB; Q13117; -.
DR BioGRID; 121347; 30.
DR IntAct; Q13117; 2.
DR iPTMnet; Q13117; -.
DR PhosphoSitePlus; Q13117; -.
DR BioMuta; DAZ2; -.
DR DMDM; 218512098; -.
DR MassIVE; Q13117; -.
DR PaxDb; Q13117; -.
DR PeptideAtlas; Q13117; -.
DR PRIDE; Q13117; -.
DR Antibodypedia; 21892; 118 antibodies from 20 providers.
DR DNASU; 57055; -.
DR Ensembl; ENST00000382433.4; ENSP00000371870.4; ENSG00000205944.12. [Q13117-1]
DR Ensembl; ENST00000382449.5; ENSP00000371887.1; ENSG00000205944.12. [Q13117-3]
DR GeneID; 57055; -.
DR KEGG; hsa:57055; -.
DR UCSC; uc022con.2; human. [Q13117-1]
DR CTD; 57055; -.
DR DisGeNET; 57055; -.
DR GeneCards; DAZ2; -.
DR GeneReviews; DAZ2; -.
DR HGNC; HGNC:15964; DAZ2.
DR HPA; ENSG00000205944; Group enriched (stomach, testis).
DR MalaCards; DAZ2; -.
DR MIM; 400026; gene.
DR MIM; 415000; phenotype.
DR neXtProt; NX_Q13117; -.
DR OpenTargets; ENSG00000205944; -.
DR Orphanet; 1646; Partial chromosome Y deletion.
DR PharmGKB; PA27150; -.
DR VEuPathDB; HostDB:ENSG00000205944; -.
DR GeneTree; ENSGT00530000063480; -.
DR InParanoid; Q13117; -.
DR PhylomeDB; Q13117; -.
DR TreeFam; TF324396; -.
DR PathwayCommons; Q13117; -.
DR SignaLink; Q13117; -.
DR BioGRID-ORCS; 57055; 11 hits in 179 CRISPR screens.
DR ChiTaRS; DAZ2; human.
DR GeneWiki; DAZ2; -.
DR GenomeRNAi; 57055; -.
DR Pharos; Q13117; Tbio.
DR PRO; PR:Q13117; -.
DR Proteomes; UP000005640; Chromosome Y.
DR RNAct; Q13117; protein.
DR Bgee; ENSG00000205944; Expressed in right testis and 15 other tissues.
DR ExpressionAtlas; Q13117; baseline.
DR Genevisible; Q13117; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB.
DR GO; GO:0003730; F:mRNA 3'-UTR binding; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; TAS:ProtInc.
DR GO; GO:0008494; F:translation activator activity; IBA:GO_Central.
DR GO; GO:0070935; P:3'-UTR-mediated mRNA stabilization; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0045948; P:positive regulation of translational initiation; IBA:GO_Central.
DR GO; GO:0007338; P:single fertilization; TAS:ProtInc.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR CDD; cd12672; RRM_DAZL; 1.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR037366; BOULE/DAZ.
DR InterPro; IPR034778; DAZ1-4.
DR InterPro; IPR043628; DAZ_dom.
DR InterPro; IPR037551; DAZ_RRM_vert.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR000504; RRM_dom.
DR PANTHER; PTHR11176; PTHR11176; 10.
DR PANTHER; PTHR11176:SF8; PTHR11176:SF8; 10.
DR Pfam; PF18872; Daz; 15.
DR Pfam; PF00076; RRM_1; 1.
DR SMART; SM00360; RRM; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS51890; DAZ; 15.
DR PROSITE; PS50102; RRM; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Developmental protein; Differentiation;
KW Nucleus; Reference proteome; Repeat; RNA-binding; Spermatogenesis.
FT CHAIN 1..558
FT /note="Deleted in azoospermia protein 2"
FT /id="PRO_0000081555"
FT DOMAIN 40..115
FT /note="RRM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 167..190
FT /note="DAZ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 191..214
FT /note="DAZ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 215..238
FT /note="DAZ 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 239..262
FT /note="DAZ 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 263..286
FT /note="DAZ 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 287..310
FT /note="DAZ 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 311..334
FT /note="DAZ 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 335..358
FT /note="DAZ 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 359..382
FT /note="DAZ 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 383..406
FT /note="DAZ 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 407..430
FT /note="DAZ 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 431..454
FT /note="DAZ 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 455..478
FT /note="DAZ 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 479..502
FT /note="DAZ 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT DOMAIN 503..526
FT /note="DAZ 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 198..389
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:7670487"
FT /id="VSP_009452"
FT VAR_SEQ 321..344
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.3"
FT /id="VSP_009453"
FT CONFLICT 341
FT /note="N -> S (in Ref. 2; AAF91329)"
FT /evidence="ECO:0000305"
FT CONFLICT 344
FT /note="V -> F (in Ref. 2; AAF91329)"
FT /evidence="ECO:0000305"
FT CONFLICT 407
FT /note="A -> P (in Ref. 1; AAB02393)"
FT /evidence="ECO:0000305"
FT CONFLICT 420
FT /note="T -> A (in Ref. 1; AAB02393)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 558 AA; 63111 MW; D354ED2CC2AB6C35 CRC64;
MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF
GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC
ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT
GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF
PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT
GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPVQVTTGY QLPVYNYQAF
PAYPSSPFQV TTGYQLPVYN YQAFPAYPSS PFQVTTGYQL PVYNYQAFPA YPSSPFQVTT
GYQLPVYNYQ AFPAYPSSPF QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF
PAYPSSPFQV TTGYQLPVYN YQAFPAYPNS AVQVTTGYQF HVYNYQMPPQ CPVGEQRRNL
WTEAYKWWYL VCLIQRRD
