DAZ2 Gene

HGNC Family RNA binding motif containing (RBM)
Name deleted in azoospermia 2
Description 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]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe Deleted in Azoospermia (DAZ) gene family, located in the AZFc region of the Y chromosome, is essential for normal human spermatogenesis. Among its four copies, DAZ2 is expressed in the testes and contributes to proper germ cell development, as demonstrated by analyses showing active expression in human testicular tissue."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMultiple genetic studies have revealed that deletions affecting the DAZ2 copy—often occurring as part of a combined DAZ1/DAZ2 deletion—correlate with impaired spermatogenesis and male infertility. In East Asian and Chinese populations, analyses have documented that deletion of the DAZ1/DAZ2 unit is a predominant subtype of partial AZFc deletion associated with significant spermatogenic damage. Further, targeted screening using PCR‐restriction fragment length polymorphism and meta-analysis approaches consistently show that partial deletion of the DAZ1/DAZ2 copies is a high‐risk factor for severe oligozoospermia and azoospermia. In addition, studies in diverse cohorts—including South Chinese and Tunisian populations—have identified novel deletion patterns (such as a gr/gr-DAZ2-DAZ4-CDY1b deletion) where removal of the DAZ2 copy appears to contribute to spermatogenic failure."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "8"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nEmerging functional studies have also implicated DAZ2 in cell fate reprogramming. Overexpression of DAZ2, together with other germ cell factors such as DAZL and BOULE, can reprogram human Sertoli cells into spermatogonial stem cells with the ability to self‐renew and differentiate into mature germ cells. This finding opens new avenues for potential therapeutic strategies in treating male infertility by generating gametes from somatic cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Byunghyuk Kim, Youngbin Lee, Yeonwha Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polymorphic expression of DAZ proteins in the human testis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Reprod (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/humrep/dep032"}], "href": "https://doi.org/10.1093/humrep/dep032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19223287"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19223287"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "F Zhang, Z Li, B Wen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Hum Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1529-8817.2005.00231.x"}], "href": "https://doi.org/10.1111/j.1529-8817.2005.00231.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16674553"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16674553"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "A Ferlin, E Moro, A Rossi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Endocrinol Invest (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/BF03343952"}], "href": "https://doi.org/10.1007/BF03343952"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11883873"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11883873"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yuan Yang, Cuiying Xiao, Sizhong Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Fertil Steril (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.fertnstert.2005.09.025"}], "href": "https://doi.org/10.1016/j.fertnstert.2005.09.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16580401"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16580401"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yuening Zhang, Muyan Li, Feifan Xiao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2015.07.083"}], "href": "https://doi.org/10.1016/j.gene.2015.07.083"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26232607"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26232607"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Myriam Ghorbel, Siwar Baklouti-Gargouri, Rim Keskes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2014.05.061"}], "href": "https://doi.org/10.1016/j.gene.2014.05.061"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24878370"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24878370"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Myriam Ghorbel, Siwar Baklouti-Gargouri, Rim Keskes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2016.07.050"}], "href": "https://doi.org/10.1016/j.gene.2016.07.050"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27457284"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27457284"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Zhou-Cun A, Yuan Yang, Si-Zhong Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Yi Chuan (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1360/yc-006-1057"}], "href": "https://doi.org/10.1360/yc-006-1057"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16963411"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16963411"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Wenhui Zhang, Wei Chen, Yinghong Cui, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Stem Cell Reports (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.stemcr.2021.09.011"}], "href": "https://doi.org/10.1016/j.stemcr.2021.09.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34653405"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34653405"}]}]}]}
Synonyms PDP1678
Proteins DAZ2_HUMAN
NCBI Gene ID 57055
API
Download Associations
Predicted Functions View DAZ2's ARCHS4 Predicted Functions.
Co-expressed Genes View DAZ2's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View DAZ2's ARCHS4 Predicted Functions.

Functional Associations

DAZ2 has 1,204 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 53 datasets.

Click the + buttons to view associations for DAZ2 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles tissues with high or low expression of DAZ2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of DAZ2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of DAZ2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of DAZ2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing DAZ2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with DAZ2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with DAZ2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with DAZ2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with DAZ2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with DAZ2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with DAZ2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of DAZ2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of DAZ2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GAD High Level Gene-Disease Associations diseases associated with DAZ2 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with DAZ2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing DAZ2 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of DAZ2 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of DAZ2 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of DAZ2 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of DAZ2 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of DAZ2 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Biological Process Annotations 2015 biological processes involving DAZ2 gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2023 biological processes involving DAZ2 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving DAZ2 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2015 cellular components containing DAZ2 protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by DAZ2 gene from the curated GO Molecular Function Annotations 2015 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by DAZ2 gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by DAZ2 gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of DAZ2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of DAZ2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of DAZ2 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with DAZ2 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for DAZ2 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of DAZ2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of DAZ2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of DAZ2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of DAZ2 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Curated Protein Localization Annotations cellular components containing DAZ2 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain DAZ2 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MPO Gene-Phenotype Associations phenotypes of transgenic mice caused by DAZ2 gene mutations from the MPO Gene-Phenotype Associations dataset.
Pathway Commons Protein-Protein Interactions interacting proteins for DAZ2 from the Pathway Commons Protein-Protein Interactions dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of DAZ2 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of DAZ2 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of DAZ2 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of DAZ2 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of DAZ2 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of DAZ2 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of DAZ2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of DAZ2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with DAZ2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with DAZ2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2014 pathways involving DAZ2 protein from the Wikipathways Pathways 2014 dataset.
WikiPathways Pathways 2024 pathways involving DAZ2 protein from the WikiPathways Pathways 2024 dataset.