| HGNC Family | RNA binding motif containing (RBM) |
| Name | deleted in azoospermia 4 |
| 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 two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe Deleted in Azoospermia (DAZ) gene family, located in the AZFc region of the human Y chromosome, comprises multiple nearly identical copies, including DAZ4. In one study, analysis of single‐nucleotide variants across this region revealed that a common Y-chromosome variant lacking both the DAZ3 and DAZ4 copies did not correlate with reduced fertility, suggesting that these genes are genetically redundant for normal spermatogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Complementary work using cDNA cloning and immunoblot analyses confirmed that all DAZ family members, including DAZ4, are actively expressed in the human testis, substantiating their role in spermatogenic processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFurther investigations have examined the impact of partial deletions within the DAZ clusters on male infertility. Meta-analyses revealed that while deletions affecting the DAZ1/2 cluster are consistently associated with an increased risk for oligozoospermia and azoospermia across different ethnicities, partial deletions of the DAZ3/4 cluster—which include loss of the DAZ4 copy—generally do not show a significant association with impaired fertility in East Asian populations."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " However, studies in Non-East Asian groups have indicated a potential risk, implying that the functional consequences of DAZ4 loss may vary with the genetic background.\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nPopulation-specific studies further underscore these complexities. In Tunisian men, deletion of the DAZ4 copy was found more frequently in oligospermic individuals, and the simultaneous loss of DAZ2 and DAZ4 was significantly associated with male infertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In contrast, analysis of a Chinese cohort revealed that DAZ3/4 deletions did not differ significantly between infertile and normospermic men"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", and a study of AZFc subdeletions in Chilean men provided additional evidence of heterogeneous deletion patterns without a clear-cut impact of DAZ4 loss alone on spermatogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these findings suggest that while DAZ4 is actively expressed in the testis, its deletion may be functionally redundant in some populations yet contribute to spermatogenic impairment when combined with additional genetic alterations in others.\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "S Fernandes, S Paracchini, L H Meyer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/381132"}], "href": "https://doi.org/10.1086/381132"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14639527"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14639527"}]}, {"type": "r", "ref": 2, "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": 3, "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": 4, "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": 5, "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": 6, "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": 7, "children": [{"type": "t", "text": "María C Lardone, Daniela A Parodi, Mauricio Ebensperger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AZFc partial deletions in Chilean men with severe spermatogenic failure."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Fertil Steril (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.fertnstert.2007.01.038"}], "href": "https://doi.org/10.1016/j.fertnstert.2007.01.038"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17416365"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17416365"}]}]}]}
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| Synonyms | PDP1681, PDP1680 |
| Proteins | DAZ4_HUMAN |
| NCBI Gene ID | 57135 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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DAZ4 has 612 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 45 datasets.
Click the + buttons to view associations for DAZ4 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of DAZ4 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of DAZ4 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing DAZ4 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with DAZ4 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| CTD Gene-Disease Associations | diseases associated with DAZ4 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with DAZ4 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 DAZ4 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with DAZ4 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 DAZ4 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of DAZ4 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GAD High Level Gene-Disease Associations | diseases associated with DAZ4 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 DAZ4 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 DAZ4 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of DAZ4 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 DAZ4 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of DAZ4 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of DAZ4 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving DAZ4 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving DAZ4 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving DAZ4 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing DAZ4 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by DAZ4 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by DAZ4 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by DAZ4 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of DAZ4 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with DAZ4 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for DAZ4 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of DAZ4 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 DAZ4 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 DAZ4 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 DAZ4 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Curated Protein Localization Annotations | cellular components containing DAZ4 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 DAZ4 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of DAZ4 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for DAZ4 from the Pathway Commons Protein-Protein Interactions dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of DAZ4 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of DAZ4 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of DAZ4 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of DAZ4 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of DAZ4 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 DAZ4 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 DAZ4 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of DAZ4 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with DAZ4 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving DAZ4 protein from the WikiPathways Pathways 2024 dataset. | |
