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Deleted in azoospermia protein 2

 DAZ2_HUMAN              Reviewed;         558 AA.
Q13117; Q2KHN6; Q96P41; Q9NR91;
01-MAR-2004, integrated into UniProtKB/Swiss-Prot.
16-DEC-2008, sequence version 3.
22-NOV-2017, entry version 152.
RecName: Full=Deleted in azoospermia protein 2;
Name=DAZ2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Testis;
PubMed=7670487; DOI=10.1038/ng0895-383;
Reijo R.A., Lee T.Y., Salo P., Alagappan R., Brown L.G., Rosenberg M.,
Rozen S., Jaffe T., Straus D., Hovatta O., de la Chapelle A.,
Silber S., Page D.C.;
"Diverse spermatogenic defects in humans caused by Y chromosome
deletions encompassing a novel RNA-binding protein gene.";
Nat. Genet. 10:383-393(1995).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), GENE STRUCTURE, GENE
NOMENCLATURE, AND TISSUE SPECIFICITY.
TISSUE=Testis;
PubMed=10936047; DOI=10.1006/geno.2000.6260;
Saxena R., de Vries J.W.A., Repping S., Alagappan R.K., Skaletsky H.,
Brown L.G., Ma P., Chen E., Hoovers J.M.N., Page D.C.;
"Four DAZ genes in two clusters found in the AZFc region of the human
Y chromosome.";
Genomics 67:256-267(2000).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
TISSUE=Testis;
Vogt P.H., Hirschmann P.;
"DAZ2 gene testicular transcript with 14 exon 7 variants expressed in
human testicular tissue.";
Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12815422; DOI=10.1038/nature01722;
Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S.,
Hillier L.W., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T.,
Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G.,
Fulton L., Fulton R., Graves T.A., Hou S.-F., Latrielle P.,
Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W.,
Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K.,
Schultz B., Strong C., Tin-Wollam A., Yang S.-P., Waterston R.H.,
Wilson R.K., Rozen S., Page D.C.;
"The male-specific region of the human Y chromosome is a mosaic of
discrete sequence classes.";
Nature 423:825-837(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
INTERACTION WITH DAZAP1 AND DAZAP2.
PubMed=10857750; DOI=10.1006/geno.2000.6169;
Tsui S., Dai T., Roettger S., Schempp W., Salido E.C., Yen P.H.;
"Identification of two novel proteins that interact with germ-cell-
specific RNA-binding proteins DAZ and DAZL1.";
Genomics 65:266-273(2000).
[7]
SUBCELLULAR LOCATION.
PubMed=11058556; DOI=10.1095/biolreprod63.5.1490;
Reijo R.A., Dorfman D.M., Slee R., Renshaw A.A., Loughlin K.R.,
Cooke H., Page D.C.;
"DAZ family proteins exist throughout male germ cell development and
transit from nucleus to cytoplasm at meiosis in humans and mice.";
Biol. Reprod. 63:1490-1496(2000).
[8]
INTERACTION WITH DAZL.
PubMed=10903443; DOI=10.1016/S0378-1119(00)00219-5;
Ruggiu M., Cooke H.J.;
"In vivo and in vitro analysis of homodimerisation activity of the
mouse Dazl1 protein.";
Gene 252:119-126(2000).
[9]
INTERACTION WITH BOLL.
PubMed=11390979; DOI=10.1073/pnas.131090498;
Xu E.Y., Moore F.L., Reijo Pera R.A.;
"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. 98:7414-7419(2001).
[10]
INTERACTION WITH PUM2; DZIP1 AND DZIP3.
PubMed=12511597; DOI=10.1073/pnas.0234478100;
Moore F.L., Jaruzelska J., Fox M.S., Urano J., Firpo M.T., Turek P.J.,
Dorfman D.M., Reijo Pera R.A.;
"Human Pumilio-2 is expressed in embryonic stem cells and germ cells
and interacts with DAZ (Deleted in AZoospermia) and DAZ-like
proteins.";
Proc. Natl. Acad. Sci. U.S.A. 100:538-543(2003).
[11]
REVIEW.
PubMed=12752250; DOI=10.1034/j.1600-0463.2003.11101161.x;
Vogt P.H., Fernandes S.;
"Polymorphic DAZ gene family in polymorphic structure of AZFc locus:
artwork or functional for human spermatogenesis?";
APMIS 111:115-127(2003).
[12]
INVOLVEMENT IN SPGFY2.
PubMed=11095434; DOI=10.1210/jcem.85.11.6929;
Moro E., Ferlin A., Yen P.H., Franchi P.G., Palka G., Foresta C.;
"Male infertility caused by a de novo partial deletion of the DAZ
cluster on the Y chromosome.";
J. Clin. Endocrinol. Metab. 85:4069-4073(2000).
[13]
INVOLVEMENT IN SPGFY2.
PubMed=11870237; DOI=10.1093/molehr/8.3.286;
Fernandes S., Huellen K., Goncalves J., Dukal H., Zeisler J.,
Rajpert De Meyts E., Skakkebaek N.E., Habermann B., Krause W.,
Sousa M., Barros A., Vogt P.H.;
"High frequency of DAZ1/DAZ2 gene deletions in patients with severe
oligozoospermia.";
Mol. Hum. Reprod. 8:286-298(2002).
[14]
INVOLVEMENT IN SPGFY2.
PubMed=12801575; DOI=10.1016/S0015-0282(03)00338-8;
Gianotten J., Hoffer M.J.V., De Vries J.W.A., Leschot N.J., Gerris J.,
van der Veen F.;
"Partial DAZ deletions in a family with five infertile brothers.";
Fertil. Steril. 79:1652-1655(2003).
-!- FUNCTION: RNA-binding protein that plays an essential role in
spermatogenesis. May act by binding to the 3'-UTR of mRNAs and
regulating their translation.
-!- SUBUNIT: Forms a heterodimer with BOLL and DAZL. Interacts with
PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
{ECO:0000269|PubMed:10857750, ECO:0000269|PubMed:10903443,
ECO:0000269|PubMed:11390979, ECO:0000269|PubMed:12511597}.
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11058556}.
Nucleus {ECO:0000269|PubMed:11058556}. Note=Predominantly
cytoplasmic. Nuclear at some stages of spermatozoide development.
Localizes both to the nuclei and cytoplasm of spermatozoide
differentiation. Nuclear in fetal gonocytes and in spermatogonial
nuclei. It then relocates to the cytoplasm during male meiosis.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q13117-1; Sequence=Displayed;
Name=2;
IsoId=Q13117-2; Sequence=VSP_009452;
Name=3;
IsoId=Q13117-3; Sequence=VSP_009453;
-!- TISSUE SPECIFICITY: Testis specific.
{ECO:0000269|PubMed:10936047}.
-!- DOMAIN: The DAZ-like repeats are essential and mediate the
interaction with DAZAP1 and DAZAP2.
-!- POLYMORPHISM: The number as well as the precise structure of the
DAZ proteins probably differs within the population.
{ECO:0000305|PubMed:12752250}.
-!- DISEASE: Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A
disorder resulting in the absence (azoospermia) or reduction
(oligozoospermia) of sperm in the semen, leading to male
infertility. {ECO:0000269|PubMed:11095434,
ECO:0000269|PubMed:11870237, ECO:0000269|PubMed:12801575}.
Note=The disease may be caused by mutations affecting the gene
represented in this entry. AZFc deletions in the Yq11.23 region
including the DAZ genes are the most common known genetic cause of
human male infertility.
-!- MISCELLANEOUS: The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all
encoded by a strongly repeated region of the Y chromosome, in two
clusters each comprising an inverted pair of DAZ genes. They are
very similar, which gives their indidual characterization
difficult. Thus, most experiments do not discriminate between the
different members. One can therefore suppose that reported
interactions with a DAZ protein involve all the 4 proteins.
-!- SIMILARITY: Belongs to the RRM DAZ family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; U21663; AAB02393.1; -; mRNA.
EMBL; AF248480; AAF91329.1; -; mRNA.
EMBL; AF414184; AAL24502.1; -; mRNA.
EMBL; AC006338; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC113006; AAI13007.1; -; mRNA.
CCDS; CCDS35485.1; -. [Q13117-1]
CCDS; CCDS48210.1; -. [Q13117-3]
CCDS; CCDS65375.1; -. [Q13117-2]
PIR; I38963; I38963.
RefSeq; NP_001005785.1; NM_001005785.2. [Q13117-3]
RefSeq; NP_001005786.2; NM_001005786.2.
RefSeq; NP_065096.2; NM_020363.3. [Q13117-1]
UniGene; Hs.592257; -.
ProteinModelPortal; Q13117; -.
SMR; Q13117; -.
BioGrid; 121347; 15.
IntAct; Q13117; 1.
STRING; 9606.ENSP00000371870; -.
iPTMnet; Q13117; -.
PhosphoSitePlus; Q13117; -.
BioMuta; DAZ2; -.
DMDM; 218512098; -.
PaxDb; Q13117; -.
PeptideAtlas; Q13117; -.
PRIDE; Q13117; -.
Ensembl; ENST00000382306; ENSP00000371743; ENSG00000205944. [Q13117-3]
Ensembl; ENST00000382424; ENSP00000371861; ENSG00000205944. [Q13117-1]
Ensembl; ENST00000382433; ENSP00000371870; ENSG00000205944. [Q13117-1]
Ensembl; ENST00000382449; ENSP00000371887; ENSG00000205944. [Q13117-3]
GeneID; 57055; -.
KEGG; hsa:57055; -.
UCSC; uc022con.2; human. [Q13117-1]
CTD; 57055; -.
DisGeNET; 57055; -.
EuPathDB; HostDB:ENSG00000205944.11; -.
GeneCards; DAZ2; -.
GeneReviews; DAZ2; -.
H-InvDB; HIX0056667; -.
HGNC; HGNC:15964; DAZ2.
HPA; HPA047113; -.
MalaCards; DAZ2; -.
MIM; 400026; gene.
MIM; 415000; phenotype.
neXtProt; NX_Q13117; -.
OpenTargets; ENSG00000205944; -.
Orphanet; 1646; Partial chromosome Y deletion.
PharmGKB; PA27150; -.
eggNOG; KOG0118; Eukaryota.
eggNOG; COG0724; LUCA.
GeneTree; ENSGT00530000063480; -.
HOGENOM; HOG000112149; -.
HOVERGEN; HBG048860; -.
InParanoid; Q13117; -.
PhylomeDB; Q13117; -.
TreeFam; TF324396; -.
GeneWiki; DAZ2; -.
GenomeRNAi; 57055; -.
PRO; PR:Q13117; -.
Proteomes; UP000005640; Chromosome Y.
Bgee; ENSG00000205944; -.
CleanEx; HS_DAZ2; -.
ExpressionAtlas; Q13117; baseline.
Genevisible; Q13117; HS.
GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
GO; GO:0005622; C:intracellular; IDA:UniProtKB.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0043234; C:protein complex; IDA:UniProtKB.
GO; GO:0003730; F:mRNA 3'-UTR binding; IBA:GO_Central.
GO; GO:0003723; F:RNA binding; TAS:ProtInc.
GO; GO:0008494; F:translation activator activity; IBA:GO_Central.
GO; GO:0070935; P:3'-UTR-mediated mRNA stabilization; IBA:GO_Central.
GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
GO; GO:0007275; P:multicellular organism development; IEA:UniProtKB-KW.
GO; GO:0045948; P:positive regulation of translational initiation; IBA:GO_Central.
GO; GO:0007338; P:single fertilization; TAS:ProtInc.
GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
InterPro; IPR034778; DAZ1-4.
InterPro; IPR035979; RBD_domain_sf.
InterPro; IPR000504; RRM_dom.
PANTHER; PTHR11176:SF8; PTHR11176:SF8; 3.
Pfam; PF00076; RRM_1; 1.
SMART; SM00360; RRM; 1.
SUPFAM; SSF54928; SSF54928; 1.
PROSITE; PS50102; RRM; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Cytoplasm;
Developmental protein; Differentiation; Nucleus; Reference proteome;
Repeat; RNA-binding; Spermatogenesis.
CHAIN 1 558 Deleted in azoospermia protein 2.
/FTId=PRO_0000081555.
DOMAIN 40 115 RRM. {ECO:0000255|PROSITE-
ProRule:PRU00176}.
DOMAIN 170 190 DAZ-like 1.
DOMAIN 194 214 DAZ-like 2.
DOMAIN 218 238 DAZ-like 3.
DOMAIN 242 262 DAZ-like 4.
DOMAIN 266 286 DAZ-like 5.
DOMAIN 290 310 DAZ-like 6.
DOMAIN 314 334 DAZ-like 7.
DOMAIN 338 358 DAZ-like 8.
DOMAIN 362 382 DAZ-like 9.
DOMAIN 386 406 DAZ-like 10.
DOMAIN 410 430 DAZ-like 11.
DOMAIN 434 454 DAZ-like 12.
DOMAIN 458 478 DAZ-like 13.
DOMAIN 482 502 DAZ-like 14.
DOMAIN 506 526 DAZ-like 15.
VAR_SEQ 198 389 Missing (in isoform 2).
{ECO:0000303|PubMed:7670487}.
/FTId=VSP_009452.
VAR_SEQ 321 344 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334,
ECO:0000303|Ref.3}.
/FTId=VSP_009453.
CONFLICT 341 341 N -> S (in Ref. 2; AAF91329).
{ECO:0000305}.
CONFLICT 344 344 V -> F (in Ref. 2; AAF91329).
{ECO:0000305}.
CONFLICT 407 407 A -> P (in Ref. 1; AAB02393).
{ECO:0000305}.
CONFLICT 420 420 T -> A (in Ref. 1; AAB02393).
{ECO:0000305}.
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


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