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Q13117 (DAZ2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Deleted in azoospermia protein 2
Gene names
Name:DAZ2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length558 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 structure

Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3. Ref.6 Ref.8 Ref.9 Ref.10

Subcellular location

Cytoplasm. Nucleus. 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. Ref.7

Tissue specificity

Testis specific. Ref.2

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.

Involvement in 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.
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. Ref.12 Ref.13 Ref.14

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.

Sequence similarities

Belongs to the RRM DAZ family.

Contains 15 DAZ-like domains.

Contains 1 RRM (RNA recognition motif) domain.

Ontologies

Keywords
   Biological processDifferentiation
Spermatogenesis
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
   DomainRepeat
   LigandRNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

multicellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

single fertilization

Traceable author statement PubMed 8896558. Source: ProtInc

spermatogenesis

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRNA binding

Traceable author statement Ref.1. Source: ProtInc

nucleotide binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13117-1)

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.
Isoform 2 (identifier: Q13117-2)

The sequence of this isoform differs from the canonical sequence as follows:
     198-389: Missing.
Isoform 3 (identifier: Q13117-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 558558Deleted in azoospermia protein 2
PRO_0000081555

Regions

Domain40 – 11576RRM
Domain170 – 19021DAZ-like 1
Domain194 – 21421DAZ-like 2
Domain218 – 23821DAZ-like 3
Domain242 – 26221DAZ-like 4
Domain266 – 28621DAZ-like 5
Domain290 – 31021DAZ-like 6
Domain314 – 33421DAZ-like 7
Domain338 – 35821DAZ-like 8
Domain362 – 38221DAZ-like 9
Domain386 – 40621DAZ-like 10
Domain410 – 43021DAZ-like 11
Domain434 – 45421DAZ-like 12
Domain458 – 47821DAZ-like 13
Domain482 – 50221DAZ-like 14
Domain506 – 52621DAZ-like 15

Natural variations

Alternative sequence198 – 389192Missing in isoform 2.
VSP_009452
Alternative sequence321 – 34424Missing in isoform 3.
VSP_009453

Experimental info

Sequence conflict3411N → S in AAF91329. Ref.2
Sequence conflict3441V → F in AAF91329. Ref.2
Sequence conflict4071A → P in AAB02393. Ref.1
Sequence conflict4201T → A in AAB02393. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 16, 2008. Version 3.
Checksum: D354ED2CC2AB6C35

FASTA55863,111
        10         20         30         40         50         60 
MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF 

        70         80         90        100        110        120 
GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC 

       130        140        150        160        170        180 
ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT 

       190        200        210        220        230        240 
GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF 

       250        260        270        280        290        300 
PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT 

       310        320        330        340        350        360 
GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPVQVTTGY QLPVYNYQAF 

       370        380        390        400        410        420 
PAYPSSPFQV TTGYQLPVYN YQAFPAYPSS PFQVTTGYQL PVYNYQAFPA YPSSPFQVTT 

       430        440        450        460        470        480 
GYQLPVYNYQ AFPAYPSSPF QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF 

       490        500        510        520        530        540 
PAYPSSPFQV TTGYQLPVYN YQAFPAYPNS AVQVTTGYQF HVYNYQMPPQ CPVGEQRRNL 

       550 
WTEAYKWWYL VCLIQRRD 

« Hide

Isoform 2 [UniParc].

Checksum: 33E9CA774B6EE2E6
Show »

FASTA36641,287
Isoform 3 [UniParc].

Checksum: 49FE64BA5494909B
Show »

FASTA53460,411

References

« Hide 'large scale' references
[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]"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes."
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. expand/collapse author list , 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.
Nature 423:825-837(2003) [PubMed] [Europe PMC] [Abstract]
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]"High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia."
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.
Mol. Hum. Reprod. 8:286-298(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SPGFY2.
[14]"Partial DAZ deletions in a family with five infertile brothers."
Gianotten J., Hoffer M.J.V., De Vries J.W.A., Leschot N.J., Gerris J., van der Veen F.
Fertil. Steril. 79:1652-1655(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SPGFY2.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRI38963.
RefSeqNP_001005785.1. NM_001005785.2.
NP_001005786.2. NM_001005786.2.
NP_065096.2. NM_020363.3.
UniGeneHs.592257.

3D structure databases

ProteinModelPortalQ13117.
SMRQ13117. Positions 32-117.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121347. 1 interaction.
STRING9606.ENSP00000371870.

PTM databases

PhosphoSiteQ13117.

Polymorphism databases

DMDM218512098.

Proteomic databases

PaxDbQ13117.
PRIDEQ13117.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382306; ENSP00000371743; ENSG00000205944. [Q13117-3]
ENST00000382424; ENSP00000371861; ENSG00000205944. [Q13117-1]
ENST00000382433; ENSP00000371870; ENSG00000205944. [Q13117-1]
ENST00000382449; ENSP00000371887; ENSG00000205944. [Q13117-3]
GeneID57055.
KEGGhsa:57055.
UCSCuc004fvq.3. human. [Q13117-3]
uc022col.1. human. [Q13117-1]

Organism-specific databases

CTD57055.
GeneCardsGC0YP025365.
H-InvDBHIX0056667.
HGNCHGNC:15964. DAZ2.
HPAHPA047113.
MIM400026. gene.
415000. phenotype.
neXtProtNX_Q13117.
Orphanet1646. Partial chromosome Y deletion.
PharmGKBPA27150.
GenAtlasSearch...

Phylogenomic databases

eggNOGKOG0118.
HOGENOMHOG000112149.
HOVERGENHBG048860.
PhylomeDBQ13117.
TreeFamTF324396.

Gene expression databases

BgeeQ13117.
CleanExHS_DAZ2.
GenevestigatorQ13117.

Family and domain databases

Gene3D3.30.70.330. 1 hit.
InterProIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamPF00076. RRM_1. 1 hit.
[Graphical view]
SMARTSM00360. RRM. 1 hit.
[Graphical view]
PROSITEPS50102. RRM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDAZ2.
GenomeRNAi57055.
NextBio62832.
PROQ13117.
SOURCESearch...

Entry information

Entry nameDAZ2_HUMAN
AccessionPrimary (citable) accession number: Q13117
Secondary accession number(s): Q2KHN6, Q96P41, Q9NR91
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: December 16, 2008
Last modified: April 16, 2014
This is version 118 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome Y

Human chromosome Y: entries, gene names and cross-references to MIM