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Q13117

- DAZ2_HUMAN

UniProt

Q13117 - DAZ2_HUMAN

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
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 3 (16 Dec 2008)
      Previous versions | rss
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    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

    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-SubCell
    2. nucleus Source: UniProtKB-SubCell

    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.
    HOGENOMiHOG000112149.
    HOVERGENiHBG048860.
    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

    MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR    50
    MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ 100
    IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET 150
    YLQPQITPNP VTQHVQAYSA YPHSPGQVIT GCQLLVYNYQ EYPTYPDSAF 200
    QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF PAYPNSPFQV 250
    ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT 300
    GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPVQVTTGY 350
    QLPVYNYQAF PAYPSSPFQV TTGYQLPVYN YQAFPAYPSS PFQVTTGYQL 400
    PVYNYQAFPA YPSSPFQVTT GYQLPVYNYQ AFPAYPSSPF QVTTGYQLPV 450
    YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF PAYPSSPFQV TTGYQLPVYN 500
    YQAFPAYPNS AVQVTTGYQF HVYNYQMPPQ CPVGEQRRNL WTEAYKWWYL 550
    VCLIQRRD 558
    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:
    EMBL
    GenBank
    DDBJ
    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]
    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:
    EMBL
    GenBank
    DDBJ
    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 ]
    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.
    HOGENOMi HOG000112149.
    HOVERGENi HBG048860.
    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

    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: October 1, 2014
    This is version 121 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