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Aliases for DAZ4 Gene

Aliases for DAZ4 Gene

  • Deleted In Azoospermia 4 2 3 5
  • Deleted In Azoospermia Protein 4 3
  • PDP1680 3
  • PDP1681 3

External Ids for DAZ4 Gene

Previous GeneCards Identifiers for DAZ4 Gene

  • GC0YU990030
  • GC0YM024120
  • GC0YM023614
  • GC0YP025389
  • GC0YP026979

Summaries for DAZ4 Gene

Entrez Gene Summary for DAZ4 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 two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011]

GeneCards Summary for DAZ4 Gene

DAZ4 (Deleted In Azoospermia 4) is a Protein Coding gene. Diseases associated with DAZ4 include Azoospermia and Male Infertility. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is DAZ1.

UniProtKB/Swiss-Prot for DAZ4 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.

Additional gene information for DAZ4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAZ4 Gene

Genomics for DAZ4 Gene

GeneHancer (GH) Regulatory Elements for DAZ4 Gene

Promoters and enhancers for DAZ4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0YI024834 Promoter 0.5 EPDnew 550.8 +0.3 257 0.1 DAZ4 PIR37311
GH0YI024833 Promoter 0.5 EPDnew 550.8 +0.1 100 0.1 DAZ4 PIR37311
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DAZ4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DAZ4 gene promoter:

Genomic Locations for DAZ4 Gene

Genomic Locations for DAZ4 Gene
73,241 bases
Plus strand

Genomic View for DAZ4 Gene

Genes around DAZ4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAZ4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAZ4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAZ4 Gene

Proteins for DAZ4 Gene

  • Protein details for DAZ4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Deleted in azoospermia protein 4
    Protein Accession:
    Secondary Accessions:
    • Q9NR88
    • Q9NR89

    Protein attributes for DAZ4 Gene

    579 amino acids
    Molecular mass:
    64785 Da
    Quaternary structure:
    • Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
    • DAZ genes are prone to deletions but also to duplications. In a population of infertile men, DAZ genes deletions are associated with oligozoospermia but an increased number of DAZ genes is not a significant risk factor for spermatogenic failure.
    • 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 DAZ4 Gene


neXtProt entry for DAZ4 Gene

Post-translational modifications for DAZ4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DAZ4 Gene

Domains & Families for DAZ4 Gene

Gene Families for DAZ4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DAZ4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
  • Belongs to the RRM DAZ family.
  • The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
  • Belongs to the RRM DAZ family.
genes like me logo Genes that share domains with DAZ4: view

Function for DAZ4 Gene

Molecular function for DAZ4 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 DAZ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IEA --
GO:0003730 mRNA 3-UTR binding IEA,IBA --
GO:0005515 protein binding IPI 10857750
GO:0008494 translation activator activity IBA --
genes like me logo Genes that share ontologies with DAZ4: view

Phenotypes for DAZ4 Gene

genes like me logo Genes that share phenotypes with DAZ4: view

Human Phenotype Ontology for DAZ4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DAZ4 Gene

Localization for DAZ4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAZ4 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DAZ4 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for DAZ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 11390979
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
GO:0043234 protein complex IDA 10857750
genes like me logo Genes that share ontologies with DAZ4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DAZ4 Gene

Pathways & Interactions for DAZ4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DAZ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007281 germ cell development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0045948 positive regulation of translational initiation IBA --
genes like me logo Genes that share ontologies with DAZ4: view

No data available for Pathways by source and SIGNOR curated interactions for DAZ4 Gene

Drugs & Compounds for DAZ4 Gene

(1) Drugs for DAZ4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DAZ4: view

Transcripts for DAZ4 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DAZ4 Gene

No ASD Table

Relevant External Links for DAZ4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DAZ4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DAZ4 Gene

mRNA differential expression in normal tissues according to GTEx for DAZ4 Gene

This gene is overexpressed in Testis (x25.6) and Stomach (x17.8).

NURSA nuclear receptor signaling pathways regulating expression of DAZ4 Gene:


mRNA Expression by UniProt/SwissProt for DAZ4 Gene:

Tissue specificity: Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level).
genes like me logo Genes that share expression patterns with DAZ4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DAZ4 Gene

Orthologs for DAZ4 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAZ4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DAZ1 33
  • 92.71 (n)
DAZ 34 34 34 34
  • 69 (a)
(Bos Taurus)
Mammalia DAZL 34
  • 59 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 55 (a)
(Canis familiaris)
Mammalia -- 34
  • 46 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 44 (a)
(Gallus gallus)
Aves DAZL 34
  • 46 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 45 (a)
(Danio rerio)
Actinopterygii dazl 34
  • 36 (a)
fruit fly
(Drosophila melanogaster)
Insecta bol 34
  • 23 (a)
(Caenorhabditis elegans)
Secernentea daz-1 34
  • 16 (a)
Species where no ortholog for DAZ4 was found in the sources mined by GeneCards:
  • 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 DAZ4 Gene

Gene Tree for DAZ4 (if available)
Gene Tree for DAZ4 (if available)

Paralogs for DAZ4 Gene

Paralogs for DAZ4 Gene

(11) SIMAP similar genes for DAZ4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DAZ4: view

Variants for DAZ4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DAZ4 Gene

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

Sequence variations from dbSNP and Humsavar for DAZ4 Gene

SNP ID Clin Chr 0Y pos Variation AA Info Type
rs111254284 -- 24,882,359(+) C/T intron_variant
rs111704199 -- 24,881,934(+) C/G intron_variant
rs111759156 -- 24,876,160(+) G/A intron_variant
rs111794896 -- 24,877,569(+) G/T intron_variant
rs111909097 -- 24,859,389(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DAZ4 Gene

Variant ID Type Subtype PubMed ID
dgv2560e212 CNV gain 25503493
dgv2568e212 CNV gain 25503493
dgv2569e212 CNV loss 25503493
dgv2570e212 CNV loss 25503493
dgv2571e212 CNV loss 25503493
dgv2572e212 CNV loss 25503493
dgv2573e212 CNV gain 25503493
dgv2574e212 CNV loss 25503493
dgv2575e212 CNV gain 25503493
dgv2576e212 CNV loss 25503493
dgv4365n106 CNV deletion 24896259
dgv4366n106 CNV deletion 24896259
esv3575127 CNV loss 25503493
esv3575128 CNV loss 25503493
esv3575129 CNV loss 25503493
esv3575148 CNV loss 25503493
esv3575157 CNV loss 25503493
esv3575178 CNV loss 25503493
esv3575179 CNV loss 25503493
esv3577610 CNV gain 25503493
esv3577618 CNV gain 25503493
esv3577644 CNV gain 25503493
esv3577645 CNV gain 25503493
esv3577647 CNV gain 25503493
esv3577652 CNV gain 25503493
nsv10034 CNV loss 18304495
nsv1075357 CNV deletion 25765185
nsv1075761 CNV deletion 25765185
nsv1076305 CNV deletion 25765185
nsv1113054 CNV deletion 24896259
nsv1126964 CNV deletion 24896259
nsv1133787 CNV deletion 24896259
nsv442825 CNV gain+loss 18776908
nsv442826 CNV gain+loss 18776908
nsv469766 CNV gain+loss 16826518
nsv471613 CNV gain 15918152
nsv515230 CNV loss 21397061

Additional Variant Information for DAZ4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Variation tolerance for DAZ4 Gene

Disorders for DAZ4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DAZ4 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • spermatogenic failure
male infertility
  • infertility male
male reproductive system disease
  • genital diseases, male
spermatogenic failure, x-linked, 1
  • spgfx1
- elite association - COSMIC cancer census association via MalaCards
Search DAZ4 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for DAZ4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DAZ4: view

No data available for Genatlas for DAZ4 Gene

Publications for DAZ4 Gene

  1. Partial DAZ deletions in a family with five infertile brothers. (PMID: 12801575) Gianotten J … van der Veen F (Fertility and sterility 2003) 3 4 22 58
  2. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. (PMID: 10936047) Saxena R … Page DC (Genomics 2000) 2 3 4 58
  3. Polymorphic expression of DAZ proteins in the human testis. (PMID: 19223287) Kim B … Paick JS (Human reproduction (Oxford, England) 2009) 3 4 58
  4. [Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI]. (PMID: 16963411) A ZC … Lin L (Yi chuan = Hereditas 2006) 3 44 58
  5. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. (PMID: 14639527) Fernandes S … Vogt PH (American journal of human genetics 2004) 2 3 58

Products for DAZ4 Gene

Sources for DAZ4 Gene

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