Aliases for DAZL Gene
Aliases for DAZL Gene
External Ids for DAZL Gene
- HGNC: 2685
- Entrez Gene: 1618
- Ensembl: ENSG00000092345
- OMIM: 601486
- UniProtKB: Q92904
Previous HGNC Symbols for DAZL Gene
- DAZLA
Previous GeneCards Identifiers for DAZL Gene
- GC03M016557
- GC03M016603
Summaries 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 Infertility. Among its related pathways are Ovarian Infertility Genes and Translational Control. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is DAZ2.
UniProtKB/Swiss-Prot 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).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAZL Gene
Genomics for DAZL Gene
GeneHancer (GH) Regulatory Elements for DAZL Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH03I016605 | Promoter/Enhancer | 1.1 | EPDnew FANTOM5 ENCODE | 560.3 | +64.3 | 64290 | 1.7 | RELA | DAZL GC03M016595 PIR37155 | |
| GH03I016670 | Enhancer | 0.6 | ENCODE dbSUPER | 550.8 | -0.2 | -193 | 0.2 | SP1 POU5F1 | DAZL PIR34564 | |
| GH03I016671 | Enhancer | 0.6 | ENCODE dbSUPER | 550.8 | -1.3 | -1333 | 1.8 | FOXA2 POU5F1 | DAZL PIR34564 | |
| GH03I016604 | Promoter | 0.5 | EPDnew | 550.2 | +65.5 | 65538 | 0.1 | DAZL GC03M016595 PIR37155 | ||
| GH03I016361 | Enhancer | 0.2 | FANTOM5 | 37.4 | +309.0 | 309009 | 0.1 | DAZL RFTN1 ENSG00000272529 OXNAD1 GC03P016476 GC03M015947 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around DAZL on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for DAZL Gene
Genomic Locations for DAZL Gene
- chr3:16,586,792-16,670,306
- (GRCh38/hg38)
- Size:
- 83,515 bases
- Orientation:
- Minus strand
- chr3:16,628,299-16,711,813
- (GRCh37/hg19)
Genomic View for DAZL Gene
Genes around DAZL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p24.3 by Ensembl
- 3p24.3 by Entrez Gene
- 3p24.3 by HGNC
DAZL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for DAZL Gene
Post-translational modifications for DAZL Gene
No Post-translational modifications
Other Protein References for DAZL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
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Quality Products:
No data available for DME Specific Peptides for DAZL Gene
Domains & Families for DAZL Gene
Gene Families for DAZL Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for DAZL Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DAZL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q92904UniProtKB/Swiss-Prot:
DAZL_HUMAN :- The DAZ-like domain mediates the interaction with DAZAP1 and DAZAP2.
- Belongs to the RRM DAZ family.
- Domain:
-
- The DAZ-like domain mediates the interaction with DAZAP1 and DAZAP2.
- Family:
-
- Belongs to the RRM DAZ family.
Function for DAZL Gene
Molecular function for DAZL Gene
- 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
- 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).
Phenotypes From GWAS Catalog for DAZL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | TAS,IEA | 8968755 |
| GO:0003729 | mRNA binding | IEA | -- |
| GO:0003730 | mRNA 3-UTR binding | IEA,IBA | -- |
| GO:0005515 | protein binding | IPI | 10857750 |
Phenotypes for DAZL Gene
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miRNA for DAZL Gene
- miRTarBase miRNAs that target DAZL
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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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| extracellular | 1 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IDA | 11390979 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | TAS,IBA | -- |
| GO:0005844 | polysome | IEA | -- |
| GO:0043234 | protein complex | IDA | 10857750 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DAZL Gene
Pathways & Interactions for DAZL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Translational Control | ||
| 2 | Ovarian Infertility Genes | ||
Pathways by source for DAZL Gene
1 Cell Signaling Technology pathway for DAZL Gene
1 BioSystems pathway for DAZL Gene
Interacting Proteins for DAZL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001556 | oocyte maturation | IEA | -- |
| GO:0006417 | regulation of translation | IEA | -- |
| GO:0007147 | female meiosis II | IEA | -- |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007281 | germ cell development | IEA,TAS | 9288969 |
No data available for SIGNOR curated interactions for DAZL Gene
Transcripts for DAZL Gene
mRNA/cDNA for DAZL Gene
- (2) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (52) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DAZL Gene
- Deleted in azoospermia-like:
- Representative Sequences:
CRISPR Products
-
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-
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Inhibitory RNA Products
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Clone Products
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-
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Expression for DAZL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Germ Cells (Reproductive System)
- Gonad
- Inner Cell Mass (Early Embryonic Tissues)
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
- Ovary (Reproductive System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for DAZL Gene
This gene is overexpressed in Testis (x51.0).
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, PaxDb, and MOPED for DAZL Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of DAZL Gene:
DAZLSOURCE GeneReport for Unigene cluster for DAZL Gene:
Hs.131179mRNA Expression by UniProt/SwissProt for DAZL Gene:
Q92904-DAZL_HUMAN
Tissue specificity:
Testis specific.
Primer Products
-
OriGene qPCR primer pairs for DAZL
-
OriGene qPCR primer pairs and template standards for DAZL
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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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DAZL1 34 |
|
OneToOne | |
| DAZL 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | DAZL 33 |
|
||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | DAZL 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Dazl 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | DAZL 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dazl 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | dazl 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dazl 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | bol 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | daz-1 34 |
|
OneToMany |
- Species where no ortholog for DAZL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for DAZL Gene
(8) SIMAP similar genes for DAZL Gene using alignment to 3 proteins:
Pseudogenes.org Pseudogenes for DAZL Gene
Variants for DAZL Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121918346 | risk-factor, Spermatogenic failure, susceptibility to | 16,598,169(-) | T/C/G | coding_sequence_variant, missense_variant | |
| rs1000291375 | -- | 16,602,929(-) | T/C | intron_variant | |
| rs1000316064 | -- | 16,592,219(-) | A/ | intron_variant | |
| rs1000469581 | -- | 16,599,506(-) | A/G | intron_variant | |
| rs1000557643 | -- | 16,587,516(-) | AAA/A | 3_prime_UTR_variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAZL Gene
Disorders for DAZL Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| azoospermia |
|
|
| infertility |
|
|
| male infertility |
|
|
| male reproductive system disease |
|
|
| reproductive system disease |
|
|
Search DAZL in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DAZL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for DAZL Gene
Publications for DAZL Gene
- 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 44 58
- 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 44 58
- [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 44 58
- 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 44 58
- Association of DAZL haplotypes with spermatogenic failure in infertile men. (PMID: 16730721) Teng YN … Kuo PL (Fertility and sterility 2006) 3 22 44 58
Products for DAZL Gene
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Sources for DAZL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
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