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Protein

Deleted in azoospermia protein 2

Gene

DAZ2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

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.

GO - Molecular functioni

  • mRNA 3'-UTR binding Source: GO_Central
  • RNA binding Source: ProtInc
  • translation activator activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Deleted in azoospermia protein 2
Gene namesi
Name:DAZ2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome Y

Organism-specific databases

EuPathDBiHostDB:ENSG00000205944.11
HGNCiHGNC:15964 DAZ2
MIMi400026 gene
neXtProtiNX_Q13117

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure Y-linked 2 (SPGFY2)3 Publications
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.
Disease descriptionA disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
See also OMIM:415000

Organism-specific databases

DisGeNETi57055
GeneReviewsiDAZ2
MalaCardsiDAZ2
MIMi415000 phenotype
OpenTargetsiENSG00000205944
Orphaneti1646 Partial chromosome Y deletion
PharmGKBiPA27150

Polymorphism and mutation databases

BioMutaiDAZ2
DMDMi218512098

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000815551 – 558Deleted in azoospermia protein 2Add BLAST558

Proteomic databases

PaxDbiQ13117
PeptideAtlasiQ13117
PRIDEiQ13117
ProteomicsDBi59168
59169 [Q13117-2]
59170 [Q13117-3]

PTM databases

iPTMnetiQ13117
PhosphoSitePlusiQ13117

Expressioni

Tissue specificityi

Testis specific.1 Publication

Gene expression databases

BgeeiENSG00000205944 Expressed in 14 organ(s), highest expression level in fundus of stomach
CleanExiHS_DAZ2
ExpressionAtlasiQ13117 baseline and differential
GenevisibleiQ13117 HS

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, 15 interactors
IntActiQ13117, 1 interactor
STRINGi9606.ENSP00000371870

Structurei

3D structure databases

ProteinModelPortaliQ13117
SMRiQ13117
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 115RRMPROSITE-ProRule annotationAdd BLAST76
Domaini170 – 190DAZ-like 1Add BLAST21
Domaini194 – 214DAZ-like 2Add BLAST21
Domaini218 – 238DAZ-like 3Add BLAST21
Domaini242 – 262DAZ-like 4Add BLAST21
Domaini266 – 286DAZ-like 5Add BLAST21
Domaini290 – 310DAZ-like 6Add BLAST21
Domaini314 – 334DAZ-like 7Add BLAST21
Domaini338 – 358DAZ-like 8Add BLAST21
Domaini362 – 382DAZ-like 9Add BLAST21
Domaini386 – 406DAZ-like 10Add BLAST21
Domaini410 – 430DAZ-like 11Add BLAST21
Domaini434 – 454DAZ-like 12Add BLAST21
Domaini458 – 478DAZ-like 13Add BLAST21
Domaini482 – 502DAZ-like 14Add BLAST21
Domaini506 – 526DAZ-like 15Add BLAST21

Domaini

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

Sequence similaritiesi

Belongs to the RRM DAZ family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0118 Eukaryota
COG0724 LUCA
GeneTreeiENSGT00530000063480
HOGENOMiHOG000112149
HOVERGENiHBG048860
InParanoidiQ13117
PhylomeDBiQ13117
TreeFamiTF324396

Family and domain databases

CDDicd12672 RRM_DAZL, 1 hit
Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR037366 BOULE/DAZ
IPR034778 DAZ1-4
IPR037551 DAZ_RRM_vert
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PANTHERiPTHR11176 PTHR11176, 3 hits
PTHR11176:SF8 PTHR11176:SF8, 3 hits
PfamiView protein in Pfam
PF00076 RRM_1, 1 hit
SMARTiView protein in SMART
SM00360 RRM, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q86SG3DAZ4_HUMAN
Deleted in azoospermia protein 4
DAZ4
579Annotation score:
E7EU39E7EU39_HUMAN
Deleted in azoospermia protein 2
DAZ4 DAZ2
366Annotation score:
E9PBY2E9PBY2_HUMAN
Deleted in azoospermia protein 2
DAZ2
654Annotation score:
E7ENA6E7ENA6_HUMAN
Deleted in azoospermia protein 2
DAZ2
438Annotation score:
E7EU38E7EU38_HUMAN
Deleted in azoospermia protein 4
DAZ4
651Annotation score:
E7ENA5E7ENA5_HUMAN
Deleted in azoospermia protein 4
DAZ4
558Annotation score:
A0A0A0MSS9A0A0A0MSS9_HUMAN
Deleted in azoospermia protein 4
DAZ4
486Annotation score:
I3L0B6I3L0B6_HUMAN
Deleted in azoospermia protein 2
DAZ2
486Annotation score:
A0A140T8Y1A0A140T8Y1_HUMAN
Deleted in azoospermia protein 4
DAZ4
603Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti341N → S in AAF91329 (PubMed:10936047).Curated1
Sequence conflicti344V → F in AAF91329 (PubMed:10936047).Curated1
Sequence conflicti407A → P in AAB02393 (PubMed:7670487).Curated1
Sequence conflicti420T → A in AAB02393 (PubMed:7670487).Curated1

Polymorphismi

The number as well as the precise structure of the DAZ proteins probably differs within the population.1 Publication

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009452198 – 389Missing in isoform 2. 1 PublicationAdd BLAST192
Alternative sequenceiVSP_009453321 – 344Missing in isoform 3. 2 PublicationsAdd BLAST24

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]
GeneIDi57055
KEGGihsa:57055
UCSCiuc022con.2 human [Q13117-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
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

3D structure databases

ProteinModelPortaliQ13117
SMRiQ13117
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121347, 15 interactors
IntActiQ13117, 1 interactor
STRINGi9606.ENSP00000371870

PTM databases

iPTMnetiQ13117
PhosphoSitePlusiQ13117

Polymorphism and mutation databases

BioMutaiDAZ2
DMDMi218512098

Proteomic databases

PaxDbiQ13117
PeptideAtlasiQ13117
PRIDEiQ13117
ProteomicsDBi59168
59169 [Q13117-2]
59170 [Q13117-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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
UCSCiuc022con.2 human [Q13117-1]

Organism-specific databases

CTDi57055
DisGeNETi57055
EuPathDBiHostDB:ENSG00000205944.11
GeneCardsiDAZ2
GeneReviewsiDAZ2
H-InvDBiHIX0056667
HGNCiHGNC:15964 DAZ2
HPAiHPA047113
MalaCardsiDAZ2
MIMi400026 gene
415000 phenotype
neXtProtiNX_Q13117
OpenTargetsiENSG00000205944
Orphaneti1646 Partial chromosome Y deletion
PharmGKBiPA27150
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0118 Eukaryota
COG0724 LUCA
GeneTreeiENSGT00530000063480
HOGENOMiHOG000112149
HOVERGENiHBG048860
InParanoidiQ13117
PhylomeDBiQ13117
TreeFamiTF324396

Miscellaneous databases

GeneWikiiDAZ2
GenomeRNAii57055
PROiPR:Q13117
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205944 Expressed in 14 organ(s), highest expression level in fundus of stomach
CleanExiHS_DAZ2
ExpressionAtlasiQ13117 baseline and differential
GenevisibleiQ13117 HS

Family and domain databases

CDDicd12672 RRM_DAZL, 1 hit
Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR037366 BOULE/DAZ
IPR034778 DAZ1-4
IPR037551 DAZ_RRM_vert
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PANTHERiPTHR11176 PTHR11176, 3 hits
PTHR11176:SF8 PTHR11176:SF8, 3 hits
PfamiView protein in Pfam
PF00076 RRM_1, 1 hit
SMARTiView protein in SMART
SM00360 RRM, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDAZ2_HUMAN
AccessioniPrimary (citable) accession number: Q13117
Secondary accession number(s): Q2KHN6, Q96P41, Q9NR91
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: December 16, 2008
Last modified: September 12, 2018
This is version 159 of the entry and version 3 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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