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Aliases for DAZ3 Gene

Aliases for DAZ3 Gene

  • Deleted In Azoospermia 3 2 3
  • Deleted In Azoospermia Protein 3 3
  • PDP1679 3

External Ids for DAZ3 Gene

Previous GeneCards Identifiers for DAZ3 Gene

  • GC0YP026134
  • GC0YM026055
  • GC0YM024523
  • GC0YM025756
  • GC0YP024213
  • GC0YP023705
  • GC0YP023707
  • GC0YP023709
  • GC0YP023711
  • GC0YM025319
  • GC0YM026909

Summaries for DAZ3 Gene

Entrez Gene Summary for DAZ3 Gene

  • 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-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. [provided by RefSeq, Jul 2008]

GeneCards Summary for DAZ3 Gene

DAZ3 (Deleted In Azoospermia 3) is a Protein Coding gene. Diseases associated with DAZ3 include partial deletion of y and azoospermia. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is DAZL.

UniProtKB/Swiss-Prot for DAZ3 Gene

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

Gene Wiki entry for DAZ3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAZ3 Gene

Genomics for DAZ3 Gene

Regulatory Elements for DAZ3 Gene

Genomic Location for DAZ3 Gene

Start:
24,763,069 bp from pter
End:
24,813,492 bp from pter
Size:
50,424 bases
Orientation:
Minus strand

Genomic View for DAZ3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DAZ3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAZ3 Gene

Proteins for DAZ3 Gene

  • Protein details for DAZ3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR90-DAZ3_HUMAN
    Recommended name:
    Deleted in azoospermia protein 3
    Protein Accession:
    Q9NR90
    Secondary Accessions:
    • Q2KHN7

    Protein attributes for DAZ3 Gene

    Size:
    486 amino acids
    Molecular mass:
    54989 Da
    Quaternary structure:
    • Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
    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

    Alternative splice isoforms for DAZ3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DAZ3 Gene

Proteomics data for DAZ3 Gene at MOPED

Post-translational modifications for DAZ3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DAZ3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DAZ3 Gene

Domains for DAZ3 Gene

Gene Families for DAZ3 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for DAZ3 Gene

Suggested Antigen Peptide Sequences for DAZ3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NR90

UniProtKB/Swiss-Prot:

DAZ3_HUMAN :
  • Q9NR90
Domain:
  • The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2
  • Contains 12 DAZ-like domains.
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the RRM DAZ family.
genes like me logo Genes that share domains with DAZ3: view

Function for DAZ3 Gene

Molecular function for DAZ3 Gene

UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for DAZ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with DAZ3: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DAZ3 Gene

Localization for DAZ3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAZ3 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DAZ3 Gene COMPARTMENTS Subcellular localization image for DAZ3 gene
Compartment Confidence
nucleus 5
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DAZ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DAZ3: view

Pathways for DAZ3 Gene

SuperPathways for DAZ3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DAZ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organismal development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DAZ3: view

No data available for Pathways by source for DAZ3 Gene

Transcripts for DAZ3 Gene

mRNA/cDNA for DAZ3 Gene

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DAZ3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DAZ3
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DAZ3 Gene

No ASD Table

Relevant External Links for DAZ3 Gene

GeneLoc Exon Structure for
DAZ3
ECgene alternative splicing isoforms for
DAZ3

Expression for DAZ3 Gene

mRNA expression in normal human tissues for DAZ3 Gene

mRNA differential expression in normal tissues according to GTEx for DAZ3 Gene

This gene is overexpressed in Testis (24.9), Skin - Not Sun Exposed (Suprapubic) (9.8), Stomach (8.2), and Skin - Sun Exposed (Lower leg) (7.2).

mRNA Expression by UniProt/SwissProt for DAZ3 Gene

Q9NR90-DAZ3_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expressions with DAZ3: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression for DAZ3 Gene

Orthologs for DAZ3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAZ3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DAZ 36
  • 73 (a)
ManyToMany
DAZ 36
  • 93 (a)
ManyToMany
DAZ 36
  • 93 (a)
ManyToMany
DAZ 36
  • 47 (a)
ManyToMany
DAZ3 35
  • 96.73 (n)
  • 93.38 (a)
cow
(Bos Taurus)
Mammalia DAZL 36
  • 57 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 46 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 54 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 43 (a)
OneToMany
chicken
(Gallus gallus)
Aves DAZL 36
  • 47 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii dazl 36
  • 36 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bol 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daz-1 36
  • 15 (a)
OneToMany
Species with no ortholog for DAZ3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DAZ3 Gene

ENSEMBL:
Gene Tree for DAZ3 (if available)
TreeFam:
Gene Tree for DAZ3 (if available)

Paralogs for DAZ3 Gene

Paralogs for DAZ3 Gene

Selected SIMAP similar genes for DAZ3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with DAZ3: view

Variants for DAZ3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DAZ3 Gene

Q9NR90-DAZ3_HUMAN
The number as well as the precise structure of the DAZ proteins probably differs within the population

Sequence variations from dbSNP and Humsavar for DAZ3 Gene

SNP ID Clin Chr 0Y pos Sequence Context AA Info Type MAF
rs1152100 -- 24,804,923(-) TGACC(C/T)GTGTA intron-variant
rs1273625 -- 24,776,050(-) gagct(A/G)tagac intron-variant
rs36183266 -- 24,777,531(+) CCACA(A/C/G)AGATA intron-variant
rs56067595 -- 24,775,807(+) TCGGG(C/T)TAACA intron-variant
rs56282077 -- 24,796,169(+) ATAAT(C/T)CTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DAZ3 Gene

Variant ID Type Subtype PubMed ID
dgv2505e1 CNV Complex 17122850
dgv2506e1 CNV Complex 17122850
nsv10034 CNV Loss 18304495
essv10843 CNV CNV 17122850
dgv2507e1 CNV Complex 17122850
nsv442825 CNV CNV 18776908
dgv2509e1 CNV Complex 17122850
dgv2510e1 CNV Complex 17122850
nsv515230 CNV Complex 21397061
dgv2511e1 CNV Complex 17122850
dgv2512e1 CNV Complex 17122850
nsv469766 CNV Loss 16826518
nsv471613 CNV Gain+Loss 15918152
nsv442826 CNV CNV 18776908

Relevant External Links for DAZ3 Gene

HapMap Linkage Disequilibrium report
DAZ3

Disorders for DAZ3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for DAZ3 Gene including...

Search for DAZ3 Gene in MalaCards »

UniProtKB/Swiss-Prot

DAZ3_HUMAN
  • 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. {ECO:0000269 PubMed:11095434, ECO:0000269 PubMed:12801575}. 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.

(1) University of Copenhagen DISEASES for DAZ3 Gene

Relevant External Links for DAZ3

Genetic Association Database (GAD)
DAZ3
Human Genome Epidemiology (HuGE) Navigator
DAZ3
genes like me logo Genes that share disorders with DAZ3: view

Publications for DAZ3 Gene

  1. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. (PMID: 10936047) Saxena R. … Page D.C. (Genomics 2000) 2 3 4
  2. DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. (PMID: 11058556) Reijo R.A. … Page D.C. (Biol. Reprod. 2000) 3 4
  3. Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. (PMID: 11095434) Moro E. … Foresta C. (J. Clin. Endocrinol. Metab. 2000) 3 4
  4. A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PMID: 11390979) Xu E.Y. … Reijo Pera R.A. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4
  5. Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. (PMID: 12511597) Moore F.L. … Reijo Pera R.A. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4

Products for DAZ3 Gene

Sources for DAZ3 Gene

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