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Aliases for DAZ2 Gene

Aliases for DAZ2 Gene

  • Deleted In Azoospermia 2 2 3 5
  • Deleted In Azoospermia Protein 2 3
  • PDP1678 3

External Ids for DAZ2 Gene

Previous GeneCards Identifiers for DAZ2 Gene

  • GC0YP024520
  • GC0YP024210
  • GC0YP023703
  • GC0YP023775
  • GC0YP025365

Summaries for DAZ2 Gene

Entrez Gene Summary for DAZ2 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for DAZ2 Gene

DAZ2 (Deleted In Azoospermia 2) is a Protein Coding gene. Diseases associated with DAZ2 include Spermatogenic Failure, Y-Linked, 2 and Azoospermia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is DAZ3.

UniProtKB/Swiss-Prot for DAZ2 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 DAZ2 Gene

Additional gene information for DAZ2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAZ2 Gene

Genomics for DAZ2 Gene

GeneHancer (GH) Regulatory Elements for DAZ2 Gene

Top Transcription factor binding sites by QIAGEN in the DAZ2 gene promoter:
  • SRY
  • aMEF-2
  • MEF-2A
  • p53
  • RSRFC4

Genomic Locations for DAZ2 Gene

Genomic Locations for DAZ2 Gene
71,923 bases
Plus strand
71,910 bases
Plus strand

Genomic View for DAZ2 Gene

Genes around DAZ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAZ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAZ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAZ2 Gene

Proteins for DAZ2 Gene

  • Protein details for DAZ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Deleted in azoospermia protein 2
    Protein Accession:
    Secondary Accessions:
    • Q2KHN6
    • Q96P41
    • Q9NR91

    Protein attributes for DAZ2 Gene

    558 amino acids
    Molecular mass:
    63111 Da
    Quaternary structure:
    • Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
    • 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 DAZ2 Gene


neXtProt entry for DAZ2 Gene

Post-translational modifications for DAZ2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DAZ2 Gene

Domains & Families for DAZ2 Gene

Gene Families for DAZ2 Gene

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

Suggested Antigen Peptide Sequences for DAZ2 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 DAZ2: view

Function for DAZ2 Gene

Molecular function for DAZ2 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 DAZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 7670487
GO:0003729 mRNA binding IEA --
GO:0003730 mRNA 3-UTR binding IBA --
GO:0005515 protein binding IPI 10857750
GO:0008494 translation activator activity IBA --
genes like me logo Genes that share ontologies with DAZ2: view
genes like me logo Genes that share phenotypes with DAZ2: view

Human Phenotype Ontology for DAZ2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DAZ2 Gene

MGI Knock Outs for DAZ2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for DAZ2 Gene

Localization for DAZ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAZ2 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 DAZ2 gene
Compartment Confidence
nucleus 5
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DAZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 11390979
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
GO:0032991 protein-containing complex IDA 10857750
genes like me logo Genes that share ontologies with DAZ2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DAZ2 Gene

Pathways & Interactions for DAZ2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DAZ2 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:0007338 single fertilization TAS 8896558
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DAZ2: view

No data available for Pathways by source and SIGNOR curated interactions for DAZ2 Gene

Drugs & Compounds for DAZ2 Gene

No Compound Related Data Available

Transcripts for DAZ2 Gene

mRNA/cDNA for DAZ2 Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DAZ2 Gene

Deleted in azoospermia 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DAZ2 Gene

No ASD Table

Relevant External Links for DAZ2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DAZ2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DAZ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DAZ2 Gene

This gene is overexpressed in Testis (x26.9), Stomach (x16.7), and Skin - Not Sun Exposed (Suprapubic) (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of DAZ2 Gene:


SOURCE GeneReport for Unigene cluster for DAZ2 Gene:


mRNA Expression by UniProt/SwissProt for DAZ2 Gene:

Tissue specificity: Testis specific.

Phenotype-based relationships between genes and organs from Gene ORGANizer for DAZ2 Gene

Germ Layers:
  • mesoderm
  • reproductive
  • testicle
genes like me logo Genes that share expression patterns with DAZ2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for DAZ2 Gene

Orthologs for DAZ2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAZ2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DAZ2 33
  • 94.88 (n)
DAZ 34 34 34 34
  • 91 (a)
(Rattus norvegicus)
Mammalia Dazl 33
  • 80.45 (n)
(Mus musculus)
Mammalia Dazl 16 33
  • 79.72 (n)
(Bos Taurus)
Mammalia DAZL 34
  • 58 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 55 (a)
(Canis familiaris)
Mammalia -- 34
  • 45 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 43 (a)
(Gallus gallus)
Aves DAZL 34 33
  • 65.79 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dazl 33
  • 61.59 (n)
(Danio rerio)
Actinopterygii dazl 34 33
  • 65.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta bol 34
  • 23 (a)
(Caenorhabditis elegans)
Secernentea daz-1 34
  • 16 (a)
Species where no ortholog for DAZ2 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for DAZ2 Gene

Gene Tree for DAZ2 (if available)
Gene Tree for DAZ2 (if available)

Paralogs for DAZ2 Gene

Paralogs for DAZ2 Gene

(8) SIMAP similar genes for DAZ2 Gene using alignment to 6 proteins:

  • E7EN82_HUMAN
  • E7EU39_HUMAN
  • I3L0B6_HUMAN
genes like me logo Genes that share paralogs with DAZ2: view

Variants for DAZ2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DAZ2 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 DAZ2 Gene

SNP ID Clin Chr 0Y pos Variation AA Info Type
rs112808539 -- 23,288,018(+) A/C intron_variant
rs113184890 -- 23,221,430(+) A/C intron_variant
rs12164463 -- 23,225,042(+) G/A intron_variant
rs1273620 -- 23,261,764(+) T/G intron_variant
rs1273621 -- 23,261,863(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DAZ2 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
nsv1126964 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 DAZ2 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 DAZ2 Gene

Disorders for DAZ2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DAZ2 Gene - From: HGMD, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure, y-linked, 2
  • spgfy2
  • spermatogenic failure
partial deletion of y
  • partial deletion of chromosome y
male infertility
  • infertility male
- elite association - COSMIC cancer census association via MalaCards
Search DAZ2 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:11870237, 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 DAZ2

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 DAZ2: view

No data available for Genatlas for DAZ2 Gene

Publications for DAZ2 Gene

  1. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. (PMID: 11870237) Fernandes S … Vogt PH (Molecular human reproduction 2002) 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. DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men. (PMID: 16491269) Yang Y … Zhang SX (Asian journal of andrology 2006) 3 44 58
  4. Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men. (PMID: 16580401) Yang Y … Zhang S (Fertility and sterility 2006) 3 44 58
  5. A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians. (PMID: 16674553) Zhang F … Jin L (Annals of human genetics 2006) 3 44 58

Products for DAZ2 Gene

Sources for DAZ2 Gene

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