The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but re... See more...

Aliases for DAZL Gene

Aliases for DAZL Gene

  • Deleted In Azoospermia Like 2 3 5
  • Deleted In Azoospermia-Like 2 3 4
  • SPGYLA 2 3 4
  • DAZL1 2 3 4
  • DAZH 2 3 4
  • Deleted In Azoospermia-Like 1 3 4
  • SPGY-Like-Autosomal 3 4
  • DAZ-Like Autosomal 3 4
  • DAZ Homolog 3 4
  • DAZLA 3 4
  • Testis Secretory Sperm-Binding Protein Li 204a 3
  • Spermatogenesis Gene On The Y-Like Autosomal 3
  • Germline Specific RNA Binding Protein 3
  • MGC26406 2
  • DAZL 5

External Ids for DAZL Gene

Previous HGNC Symbols for DAZL Gene

  • DAZLA

Previous GeneCards Identifiers for DAZL Gene

  • GC03M016557
  • GC03M016603

Summaries for DAZL Gene

Entrez Gene Summary for DAZL Gene

  • The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

GeneCards Summary for DAZL Gene

DAZL (Deleted In Azoospermia Like) is a Protein Coding gene. Diseases associated with DAZL include Azoospermia and Spermatogenic Failure 50. Among its related pathways are Translational Control and Ovarian Infertility Genes. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is DAZ4.

UniProtKB/Swiss-Prot Summary for DAZL Gene

  • RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts (By similarity).

Gene Wiki entry for DAZL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DAZL Gene

Genomics for DAZL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DAZL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J016605 Promoter/Enhancer 0.9 EPDnew FANTOM5 Ensembl ENCODE 260.3 +64.3 64290 1.7 DAZL HSALNG0024492 piR-44156 RFTN1
GH03J016670 Enhancer 0.8 Ensembl ENCODE dbSUPER 250.7 -1.0 -974 2.6 FOXA2 SP1 POU5F1 NANOG DAZL piR-45012-327 HSALNG0024495 ENSG00000229271 HSALNG0024494 PLCL2
GH03J016604 Promoter 0.3 EPDnew 250.2 +65.5 65538 0.1 HSALNG0024492 DAZL piR-44156 RFTN1
GH03J016361 Enhancer 0.2 FANTOM5 37.4 +309.0 309009 0.1 ENSG00000287377 DAZL RFTN1 HSALNG0024482 lnc-DPH3-3 OXNAD1
GH03J016662 Enhancer 1 ENCODE dbSUPER 0.4 +5.5 5535 4.9 ZNF600 ZNF10 BRCA1 ZIC2 CEBPB ZNF639 ZNF843 FOSL2 PRDM6 JUND DAZL ENSG00000229271 HSALNG0024495 HSALNG0024494 RFTN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DAZL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DAZL

Top Transcription factor binding sites by QIAGEN in the DAZL gene promoter:
  • aMEF-2
  • AREB6
  • c-Myc
  • FOXJ2
  • FOXJ2 (long isoform)
  • Max1
  • MEF-2A
  • Pax-6
  • Pbx1a
  • RSRFC4

Genomic Locations for DAZL Gene

Latest Assembly
chr3:16,586,792-16,670,306
(GRCh38/hg38)
Size:
83,515 bases
Orientation:
Minus strand

Previous Assembly
chr3:16,628,299-16,646,930
(GRCh37/hg19 by Entrez Gene)
Size:
18,632 bases
Orientation:
Minus strand

chr3:16,628,299-16,711,813
(GRCh37/hg19 by Ensembl)
Size:
83,515 bases
Orientation:
Minus strand

Genomic View for DAZL Gene

Genes around DAZL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DAZL Gene

Proteins for DAZL Gene

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

    Protein Symbol:
    Q92904-DAZL_HUMAN
    Recommended name:
    Deleted in azoospermia-like
    Protein Accession:
    Q92904
    Secondary Accessions:
    • O15396
    • Q5HYB4
    • Q92909

    Protein attributes for DAZL Gene

    Size:
    295 amino acids
    Molecular mass:
    33178 Da
    Quaternary structure:
    • Homodimer and heterodimer. Multiple DAZL RRMs can bind to a single RNA containing multiple GUU triplets (By similarity). Forms a heterodimer with DAZ. Interacts with BOLL, DAZAP1 and DAZAP2. Interacts with PUM2.

    Alternative splice isoforms for DAZL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DAZL Gene

Post-translational modifications for DAZL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DAZL Gene

No data available for DME Specific Peptides for DAZL Gene

Domains & Families for DAZL Gene

Gene Families for DAZL Gene

Protein Domains for DAZL Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)

Suggested Antigen Peptide Sequences for DAZL Gene

GenScript: Design optimal peptide antigens:
  • DAZL (A0SWV8_HUMAN)
  • SPGY-like-autosomal (DAZL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92904

UniProtKB/Swiss-Prot:

DAZL_HUMAN :
  • The DAZ domain mediates the interaction with DAZAP1 and DAZAP2.
  • Belongs to the RRM DAZ family.
Domain:
  • The DAZ domain mediates the interaction with DAZAP1 and DAZAP2.
Family:
  • Belongs to the RRM DAZ family.
genes like me logo Genes that share domains with DAZL: view

Function for DAZL Gene

Molecular function for DAZL Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts (By similarity).
GENATLAS Biochemistry:
deleted in azoospermia,autosomal-like,homolog of the mouse Dazla gene and the Drosophila boule (SPGY like autosomal),expressed only in male gonad

Phenotypes From GWAS Catalog for DAZL Gene

Gene Ontology (GO) - Molecular Function for DAZL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,TAS 8968755
GO:0003729 mRNA binding IEA --
GO:0003730 mRNA 3'-UTR binding IEA,IBA 21873635
GO:0005515 protein binding IPI 10857750
genes like me logo Genes that share ontologies with DAZL: view
genes like me logo Genes that share phenotypes with DAZL: view

miRNA for DAZL Gene

miRTarBase miRNAs that target DAZL

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAZL

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DAZL Gene

Localization for DAZL Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAZL Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Nuclear in spermatogonia until near the end of the meiotic prophase and cytoplasmic localization from then onward. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
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 DAZL gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DAZL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0032991 protein-containing complex IDA 10857750
genes like me logo Genes that share ontologies with DAZL: view

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

Pathways & Interactions for DAZL Gene

PathCards logo

SuperPathways for DAZL Gene

genes like me logo Genes that share pathways with DAZL: view

Pathways by source for DAZL Gene

1 BioSystems pathway for DAZL Gene
1 Cell Signaling Technology pathway for DAZL Gene

Gene Ontology (GO) - Biological Process for DAZL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0007275 multicellular organism development IEA --
GO:0007281 germ cell development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DAZL: view

No data available for SIGNOR curated interactions for DAZL Gene

Drugs & Compounds for DAZL Gene

(2) Additional Compounds for DAZL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DAZL: view

Transcripts for DAZL Gene

mRNA/cDNA for DAZL Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAZL

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

No ASD Table

Relevant External Links for DAZL Gene

GeneLoc Exon Structure for
DAZL

Expression for DAZL Gene

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

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

This gene is overexpressed in Testis (x51.0).

Protein differential expression in normal tissues from HIPED for DAZL Gene

This gene is overexpressed in Fetal ovary (33.0), Testis (23.8), and Ovary (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DAZL Gene



Protein tissue co-expression partners for DAZL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DAZL

SOURCE GeneReport for Unigene cluster for DAZL Gene:

Hs.131179

mRNA Expression by UniProt/SwissProt for DAZL Gene:

Q92904-DAZL_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with DAZL: view

Primer products for research

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DAZL Gene

Orthologs for DAZL Gene

This gene was present in the common ancestor of animals.

Orthologs for DAZL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DAZL1 30
  • 100 (a)
OneToOne
DAZL 29
  • 99.89 (n)
Dog
(Canis familiaris)
Mammalia DAZL 29
  • 93.76 (n)
-- 30
  • 41 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia DAZL 29 30
  • 92.74 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Dazl 30
  • 87 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 84 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 68 (a)
OneToMany
Chicken
(Gallus gallus)
Aves DAZL 30
  • 65 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 65 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia dazl 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dazl 29
Zebrafish
(Danio rerio)
Actinopterygii dazl 30
  • 38 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta bol 30
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea daz-1 30
  • 15 (a)
OneToMany
Species where no ortholog for DAZL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 DAZL Gene

ENSEMBL:
Gene Tree for DAZL (if available)
TreeFam:
Gene Tree for DAZL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DAZL: view image
Alliance of Genome Resources:
Additional Orthologs for DAZL

Paralogs for DAZL Gene

Paralogs for DAZL Gene

(8) SIMAP similar genes for DAZL Gene using alignment to 3 proteins:

  • DAZL_HUMAN
  • A0SWV8_HUMAN
  • E7EV40_HUMAN

Pseudogenes.org Pseudogenes for DAZL Gene

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

Variants for DAZL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DAZL Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs121918346 Risk Factor: Spermatogenic failure, susceptibility to 16,598,169(-) T/Cp.Thr54Ala
NM_001351.4(DAZL):c.160A>G (p.Thr54Ala)
MISSENSE
rs11710967 -- p.Thr12Ala
VAR_069231 -- p.Arg115Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DAZL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv796n67 CNV loss 20364138
dgv798n67 CNV loss 20364138
dgv8247n54 CNV loss 21841781
esv22139 CNV loss 19812545
esv997976 CNV gain 20482838
nsv1072243 CNV deletion 25765185
nsv1112821 CNV deletion 24896259
nsv509814 OTHER sequence alteration 20534489
nsv822018 CNV loss 20364138
nsv822019 CNV loss 20364138
nsv822021 CNV loss 20364138
nsv822024 CNV loss 20364138
nsv822025 CNV loss 20364138
nsv834625 CNV gain 17160897

Variation tolerance for DAZL Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DAZL Gene

Human Gene Mutation Database (HGMD)
DAZL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DAZL
Leiden Open Variation Database (LOVD)
DAZL

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAZL Gene

Disorders for DAZL Gene

MalaCards: The human disease database

(11) MalaCards diseases for DAZL Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
azoospermia
  • spermatogenic failure
spermatogenic failure 50
  • spgf50
infertility
male infertility
  • infertility male
seminoma
  • seminoma, pure
- elite association - COSMIC cancer census association via MalaCards
Search DAZL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DAZL

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DAZL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DAZL Gene

Publications for DAZL Gene

  1. Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure. (PMID: 12414900) Teng YN … Kuo PL (The Journal of clinical endocrinology and metabolism 2002) 3 4 40 72
  2. Phenotypic expression of partial AZFc deletions is independent of the variations in DAZL and BOULE in a Han population. (PMID: 19342699) Chen P … Yang Y (Journal of andrology 2010) 3 22 40
  3. A386G polymorphism of the DAZL gene is not associated with idiopathic male infertility in North India. (PMID: 19881148) Singh K … Raman R (Journal of human reproductive sciences 2009) 3 22 40
  4. [Autosomal DAZL single nucleotide polymorphisms not associated with male infertility in northeast China]. (PMID: 17918711) Wen XH … Wu W (Zhonghua nan ke xue = National journal of andrology 2007) 3 22 40
  5. A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population. (PMID: 16573709) Thangaraj K … Singh L (International journal of andrology 2006) 3 22 40

Products for DAZL Gene

Sources for DAZL Gene