DAZ3 Gene
protein-coding GIFtS: 41
GCID: GC0YM026909
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|
deleted in azoospermia 3
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Aliases
for DAZ3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Deleted In Azoospermia 31 2 | | Deleted In Azoospermia Protein 32 | | PDP16791 |
Export aliases for DAZ3 gene to outside databasesPrevious GC identifers: GC0YP026134 GC0YM026055 GC0YM024523 GC0YM025756 GC0YP024213 GC0YP023705 GC0YP023707 GC0YP023709 GC0YP023711 GC0YM025319 |
Summaries
for DAZ3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DAZ3:
This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF).Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-bindingprotein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromicduplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Eachgene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable andthere are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb regionthat may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This genecontains one copy of the 10.8 kb repeat. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90Function: RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR ofmRNAs and regulating their translation
Gene Wiki entry for DAZ3
|
Genomic Views
for DAZ3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DAZ3 gene promoter:
Max1 p53 POU6F1 (c2) AREB6 MEF-2A POU2F1 POU2F1a aMEF-2 RSRFC4 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for DAZ3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DAZ3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Yq11.223 Ensembl cytogenetic band: Yq11.23 HGNC cytogenetic band: Yq11.223DAZ3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome Y GeneLoc Exon Structure GeneLoc location for GC0YM026909: view genomic region
(about GC identifiers)
Start:
|
26,909,216 bp from pter |
End:
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26,959,626 bp from pter |
Size:
|
50,411 bases |
Orientation:
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minus strand |
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Proteins
for DAZ3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90 (See
protein sequence)Recommended Name: Deleted in azoospermia protein 3 Size: 486 amino acids; 54989 Da
Subunit: Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3
Subcellular location: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Nuclear at some stages of spermatozoidedevelopment. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytesand in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis
Miscellaneous: The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all encoded by a strongly repeated region of the Ychromosome, in two clusters each comprising an inverted pair of DAZ genes. They are very similar, which gives theirindidual characterization difficult. Thus, most experiments do not discriminate between the different members. One cantherefore suppose that reported interactions with a DAZ protein involve all the 4 proteins
Secondary accessions: Q2KHN7Alternative splicing: 2 isoforms: Q9NR90-1 Q9NR90-2 Explore the universe of human proteins at neXtProt for DAZ3: NX_Q9NR90
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NR90
DAZ3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065097.2
ENSEMBL proteins: ENSP00000371802 ENSP00000401049 ENSP00000324965 ENSP00000383073 ENSP00000307537
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
DAZ3 for ontologies About GeneDecksing
DAZ3 Antibody Products:
Assay Products for DAZ3: |
Protein
Domains /
Families
for DAZ3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DAZ3 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NR90ProtoNet protein and cluster: Q9NR90 1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90Domain: The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2Similarity: Belongs to the RRM DAZ familySimilarity: Contains 12 DAZ-like domainsSimilarity: Contains 1 RRM (RNA recognition motif) domain |
Function
for DAZ3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90Function: RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR ofmRNAs and regulating their translation
Clone
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZ3 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
DAZ3 for ontologies About GeneDecksing
|
Pathways & Interactions
for DAZ3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DAZ3
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for DAZ3 (Q9NR903 ENSP000003718024) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007275 | multicellular organismal development |
IEA | -- | | GO:0007283 | spermatogenesis |
IEA | -- | | GO:0030154 | cell differentiation |
IEA | -- |
DAZ3 for ontologies About GeneDecksing
|
Drugs & Compounds
for DAZ3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DAZ3
Search CenterWatch for drugs/clinical trials and news about DAZ3
|
Transcripts
for DAZ3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DAZ3 gene: NM_020364.3 5 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000382365(uc004fwj.4 uc004fwk.3 uc004fwl.3) ENST00000446723
ENST00000315357 ENST00000400212 ENST00000306737
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DAZ3
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DAZ3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DAZ3 (NM_020364) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DAZ3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DAZ3 |
16 AceView cDNA sequences: U66077 AF414184 BG771514 AA128463 AL705202 BI561663 AA136143 AF248481 AA129915 BI562231 NM_020364 NM_020363 AA136029 BC036648 AF248480 BG724038
GeneLoc Exon Structure
|
Expression
for DAZ3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DAZ3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See DAZ3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DAZ3
UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90Tissue specificity: Testis specific
SABiosciences Custom PCR Arrays for DAZ3
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DAZ3
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat DAZ3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DAZ3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DAZ3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZ3 |
Orthologs
for DAZ3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for DAZ3 gene from 3/8 species (see all 8) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
DAZL6 |
deleted in azoospermia-like |
41(a) |
1 → many |
2(34385114-34398341) |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
55(a) |
1 → many |
6(34873522-34886921) |
zebrafish
(Danio rerio) |
Actinopterygii |
dazl6 |
deleted in azoospermia-like |
36(a) |
1 → many |
19(20871401-20886168) |
ENSEMBL Gene Tree for DAZ3 (if available)
TreeFam Gene Tree for DAZ3 (if available) |
Paralogs
for DAZ3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DAZ3 gene
- DAZ12 DAZL2 DAZ42 DAZ22 BOLL2
8 SIMAP similar genes for DAZ3 using alignment to 5 protein entries: DAZ3_HUMAN (see all proteins):DAZ DAZ1 DAZ4 DAZ2 DAZL BOLL
DKFZp666C074 RBMY1A1
DAZ3 for paralogs About GeneDecksing
|
Genomic Variants
for DAZ3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90Polymorphism: The number as well as the precise structure of the DAZ proteins probably differs within the population
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr Y pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DAZ3 (26909216 - 26959626 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 14 variations for DAZ3
14 CNVs: 33192 97224 0834 4185 97225 33193 97227 83965 83967 97226 38830 2290 38829 83966 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for DAZ3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DAZ3 for disorders About GeneDecksing
OMIM gene information: 400027
OMIM disorders: --
UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90
Defects in DAZ3 may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2) [MIM:415000]. It is adisorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to maleinfertility. Note=AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic causeof human male infertility
8  diseases for DAZ3: About MalaCardsazoospermia cryptorchidism, idiopathic cryptorchidism male infertility
infertility hermaphroditism spermatogenic failure y chromosome infertility
1 disease from the University of Copenhagen DISEASES database for DAZ3:Male infertility Human Genome Epidemiology (HuGE) Navigator: DAZ3 (1 document)
Export disorders for DAZ3 gene to outside databases
|
Publications
for DAZ3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for DAZ3 gene, integrated from 9 sources (see all 31):
(articles sorted by number of sources associating them with DAZ3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. (PubMed id 10936047)1, 2, 3 Saxena R.... Page D.C. (2000)
- The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. (PubMed id 12815422)1, 2 Skaletsky H.... Page D.C. (2003)
- Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis? (PubMed id 12752250)1, 2 Vogt P.H. and Fernandes S. (2003)
- Partial DAZ deletions in a family with five infertile brothers. (PubMed id 12801575)1, 2 Gianotten J....van der Veen F. (2003)
- Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. (PubMed id 12511597)1, 2 Moore F.L.... Reijo Pera R.A. (2003)
- A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PubMed id 11390979)1, 2 Xu E.Y.... Reijo Pera R.A. (2001)
- Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. (PubMed id 11095434)1, 2 Moro E.... Foresta C. (2000)
- Identification of two novel proteins that interact with germ-cell- specific RNA-binding proteins DAZ and DAZL1. (PubMed id 10857750)1, 2 Tsui S.... Yen P.H. (2000)
- In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein. (PubMed id 10903443)1, 2 Ruggiu M. and Cooke H.J. (2000)
- DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. (PubMed id 11058556)1, 2 Reijo R.A.... Page D.C. (2000)
|
External Searches for DAZ3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DAZ3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DAZ3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DAZ3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for DAZ3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DAZ3 gene:
Search GeneIP for patents involving DAZ3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DAZ3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DAZ3 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DAZ3 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DAZ3 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DAZ3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DAZ3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DAZ3 |
| |
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| |  |  |  |  | | | | |
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 | | | DAZ3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZ3 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DAZ3 |
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