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Q13117

- DAZ2_HUMAN

UniProt

Q13117 - DAZ2_HUMAN

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Protein

Deleted in azoospermia protein 2

Gene

DAZ2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation.

GO - Molecular functioni

  1. nucleotide binding Source: InterPro
  2. RNA binding Source: ProtInc

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. multicellular organismal development Source: UniProtKB-KW
  3. single fertilization Source: ProtInc
  4. spermatogenesis Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Spermatogenesis

Keywords - Ligandi

RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Deleted in azoospermia protein 2
Gene namesi
Name:DAZ2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome Y

Organism-specific databases

HGNCiHGNC:15964. DAZ2.

Subcellular locationi

Cytoplasm 1 Publication. Nucleus 1 Publication
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.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
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.

Organism-specific databases

MIMi415000. phenotype.
Orphaneti1646. Partial chromosome Y deletion.
PharmGKBiPA27150.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 558558Deleted in azoospermia protein 2PRO_0000081555Add
BLAST

Proteomic databases

PaxDbiQ13117.
PRIDEiQ13117.

PTM databases

PhosphoSiteiQ13117.

Expressioni

Tissue specificityi

Testis specific.1 Publication

Gene expression databases

BgeeiQ13117.
CleanExiHS_DAZ2.
GenevestigatoriQ13117.

Organism-specific databases

HPAiHPA047113.

Interactioni

Subunit structurei

Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.4 Publications

Protein-protein interaction databases

BioGridi121347. 1 interaction.
STRINGi9606.ENSP00000371870.

Structurei

3D structure databases

ProteinModelPortaliQ13117.
SMRiQ13117. Positions 32-117.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini40 – 11576RRMPROSITE-ProRule annotationAdd
BLAST
Domaini170 – 19021DAZ-like 1Add
BLAST
Domaini194 – 21421DAZ-like 2Add
BLAST
Domaini218 – 23821DAZ-like 3Add
BLAST
Domaini242 – 26221DAZ-like 4Add
BLAST
Domaini266 – 28621DAZ-like 5Add
BLAST
Domaini290 – 31021DAZ-like 6Add
BLAST
Domaini314 – 33421DAZ-like 7Add
BLAST
Domaini338 – 35821DAZ-like 8Add
BLAST
Domaini362 – 38221DAZ-like 9Add
BLAST
Domaini386 – 40621DAZ-like 10Add
BLAST
Domaini410 – 43021DAZ-like 11Add
BLAST
Domaini434 – 45421DAZ-like 12Add
BLAST
Domaini458 – 47821DAZ-like 13Add
BLAST
Domaini482 – 50221DAZ-like 14Add
BLAST
Domaini506 – 52621DAZ-like 15Add
BLAST

Domaini

The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.

Sequence similaritiesi

Belongs to the RRM DAZ family.Curated
Contains 15 DAZ-like domains.Curated
Contains 1 RRM (RNA recognition motif) domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0118.
GeneTreeiENSGT00530000063480.
HOGENOMiHOG000112149.
HOVERGENiHBG048860.
InParanoidiQ13117.
PhylomeDBiQ13117.
TreeFamiTF324396.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF00076. RRM_1. 1 hit.
[Graphical view]
SMARTiSM00360. RRM. 1 hit.
[Graphical view]
PROSITEiPS50102. RRM. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q13117-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR
60 70 80 90 100
MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ
110 120 130 140 150
IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET
160 170 180 190 200
YLQPQITPNP VTQHVQAYSA YPHSPGQVIT GCQLLVYNYQ EYPTYPDSAF
210 220 230 240 250
QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF PAYPNSPFQV
260 270 280 290 300
ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT
310 320 330 340 350
GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPVQVTTGY
360 370 380 390 400
QLPVYNYQAF PAYPSSPFQV TTGYQLPVYN YQAFPAYPSS PFQVTTGYQL
410 420 430 440 450
PVYNYQAFPA YPSSPFQVTT GYQLPVYNYQ AFPAYPSSPF QVTTGYQLPV
460 470 480 490 500
YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF PAYPSSPFQV TTGYQLPVYN
510 520 530 540 550
YQAFPAYPNS AVQVTTGYQF HVYNYQMPPQ CPVGEQRRNL WTEAYKWWYL

VCLIQRRD
Length:558
Mass (Da):63,111
Last modified:December 16, 2008 - v3
Checksum:iD354ED2CC2AB6C35
GO
Isoform 2 (identifier: Q13117-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     198-389: Missing.

Show »
Length:366
Mass (Da):41,287
Checksum:i33E9CA774B6EE2E6
GO
Isoform 3 (identifier: Q13117-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     321-344: Missing.

Show »
Length:534
Mass (Da):60,411
Checksum:i49FE64BA5494909B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti341 – 3411N → S in AAF91329. (PubMed:10936047)Curated
Sequence conflicti344 – 3441V → F in AAF91329. (PubMed:10936047)Curated
Sequence conflicti407 – 4071A → P in AAB02393. (PubMed:7670487)Curated
Sequence conflicti420 – 4201T → A in AAB02393. (PubMed:7670487)Curated

Polymorphismi

The number as well as the precise structure of the DAZ proteins probably differs within the population.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei198 – 389192Missing in isoform 2. 1 PublicationVSP_009452Add
BLAST
Alternative sequencei321 – 34424Missing in isoform 3. 2 PublicationsVSP_009453Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U21663 mRNA. Translation: AAB02393.1.
AF248480 mRNA. Translation: AAF91329.1.
AF414184 mRNA. Translation: AAL24502.1.
AC006338 Genomic DNA. No translation available.
BC113006 mRNA. Translation: AAI13007.1.
CCDSiCCDS35485.1. [Q13117-1]
CCDS48210.1. [Q13117-3]
CCDS65375.1. [Q13117-2]
PIRiI38963.
RefSeqiNP_001005785.1. NM_001005785.2. [Q13117-3]
NP_001005786.2. NM_001005786.2.
NP_065096.2. NM_020363.3. [Q13117-1]
UniGeneiHs.592257.

Genome annotation databases

EnsembliENST00000382306; ENSP00000371743; ENSG00000205944. [Q13117-3]
ENST00000382424; ENSP00000371861; ENSG00000205944. [Q13117-1]
ENST00000382433; ENSP00000371870; ENSG00000205944. [Q13117-1]
ENST00000382449; ENSP00000371887; ENSG00000205944. [Q13117-3]
ENST00000624525; ENSP00000485677; ENSG00000279634. [Q13117-1]
GeneIDi57055.
KEGGihsa:57055.
UCSCiuc004fvq.3. human. [Q13117-3]
uc022col.1. human. [Q13117-1]

Polymorphism databases

DMDMi218512098.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U21663 mRNA. Translation: AAB02393.1 .
AF248480 mRNA. Translation: AAF91329.1 .
AF414184 mRNA. Translation: AAL24502.1 .
AC006338 Genomic DNA. No translation available.
BC113006 mRNA. Translation: AAI13007.1 .
CCDSi CCDS35485.1. [Q13117-1 ]
CCDS48210.1. [Q13117-3 ]
CCDS65375.1. [Q13117-2 ]
PIRi I38963.
RefSeqi NP_001005785.1. NM_001005785.2. [Q13117-3 ]
NP_001005786.2. NM_001005786.2.
NP_065096.2. NM_020363.3. [Q13117-1 ]
UniGenei Hs.592257.

3D structure databases

ProteinModelPortali Q13117.
SMRi Q13117. Positions 32-117.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121347. 1 interaction.
STRINGi 9606.ENSP00000371870.

PTM databases

PhosphoSitei Q13117.

Polymorphism databases

DMDMi 218512098.

Proteomic databases

PaxDbi Q13117.
PRIDEi Q13117.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000382306 ; ENSP00000371743 ; ENSG00000205944 . [Q13117-3 ]
ENST00000382424 ; ENSP00000371861 ; ENSG00000205944 . [Q13117-1 ]
ENST00000382433 ; ENSP00000371870 ; ENSG00000205944 . [Q13117-1 ]
ENST00000382449 ; ENSP00000371887 ; ENSG00000205944 . [Q13117-3 ]
ENST00000624525 ; ENSP00000485677 ; ENSG00000279634 . [Q13117-1 ]
GeneIDi 57055.
KEGGi hsa:57055.
UCSCi uc004fvq.3. human. [Q13117-3 ]
uc022col.1. human. [Q13117-1 ]

Organism-specific databases

CTDi 57055.
GeneCardsi GC0YP025365.
GeneReviewsi DAZ2.
H-InvDB HIX0056667.
HGNCi HGNC:15964. DAZ2.
HPAi HPA047113.
MIMi 400026. gene.
415000. phenotype.
neXtProti NX_Q13117.
Orphaneti 1646. Partial chromosome Y deletion.
PharmGKBi PA27150.
GenAtlasi Search...

Phylogenomic databases

eggNOGi KOG0118.
GeneTreei ENSGT00530000063480.
HOGENOMi HOG000112149.
HOVERGENi HBG048860.
InParanoidi Q13117.
PhylomeDBi Q13117.
TreeFami TF324396.

Miscellaneous databases

GeneWikii DAZ2.
GenomeRNAii 57055.
NextBioi 62832.
PROi Q13117.
SOURCEi Search...

Gene expression databases

Bgeei Q13117.
CleanExi HS_DAZ2.
Genevestigatori Q13117.

Family and domain databases

Gene3Di 3.30.70.330. 1 hit.
InterProi IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view ]
Pfami PF00076. RRM_1. 1 hit.
[Graphical view ]
SMARTi SM00360. RRM. 1 hit.
[Graphical view ]
PROSITEi PS50102. RRM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene."
    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.
    Nat. Genet. 10:383-393(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Testis.
  2. "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome."
    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.
    Genomics 67:256-267(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), GENE STRUCTURE, GENE NOMENCLATURE, TISSUE SPECIFICITY.
    Tissue: Testis.
  3. "DAZ2 gene testicular transcript with 14 exon 7 variants expressed in human testicular tissue."
    Vogt P.H., Hirschmann P.
    Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    Tissue: Testis.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  6. "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1."
    Tsui S., Dai T., Roettger S., Schempp W., Salido E.C., Yen P.H.
    Genomics 65:266-273(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DAZAP1 AND DAZAP2.
  7. "DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice."
    Reijo R.A., Dorfman D.M., Slee R., Renshaw A.A., Loughlin K.R., Cooke H., Page D.C.
    Biol. Reprod. 63:1490-1496(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  8. "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein."
    Ruggiu M., Cooke H.J.
    Gene 252:119-126(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DAZL.
  9. "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans."
    Xu E.Y., Moore F.L., Reijo Pera R.A.
    Proc. Natl. Acad. Sci. U.S.A. 98:7414-7419(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH BOLL.
  10. "Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins."
    Moore F.L., Jaruzelska J., Fox M.S., Urano J., Firpo M.T., Turek P.J., Dorfman D.M., Reijo Pera R.A.
    Proc. Natl. Acad. Sci. U.S.A. 100:538-543(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PUM2; DZIP1 AND DZIP3.
  11. "Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis?"
    Vogt P.H., Fernandes S.
    APMIS 111:115-127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  12. "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome."
    Moro E., Ferlin A., Yen P.H., Franchi P.G., Palka G., Foresta C.
    J. Clin. Endocrinol. Metab. 85:4069-4073(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SPGFY2.
  13. Cited for: INVOLVEMENT IN SPGFY2.
  14. Cited for: INVOLVEMENT IN SPGFY2.

Entry informationi

Entry nameiDAZ2_HUMAN
AccessioniPrimary (citable) accession number: Q13117
Secondary accession number(s): Q2KHN6, Q96P41, Q9NR91
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: December 16, 2008
Last modified: November 26, 2014
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome Y
    Human chromosome Y: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3