DAZL Gene - Deleted in Azoospermia-Like
A key regulator of germ cell development and spermatogenesis
Gene Information Card
| Symbol | DAZL |
|---|---|
| Full Name | Deleted in Azoospermia-Like |
| Gene Type | Protein coding |
| Chromosomal Location | 3p24.3 |
| NCBI Gene ID | 1618 ncbi.nlm.nih.gov/gene/1618 |
| Ensembl ID | ENSG00000178927 |
| UniProt ID | Q92904 |
| OMIM ID | 601486 |
| HGNC ID | 2686 |
| Aliases | DAZLA, SPGYLA |
Description
The DAZL (Deleted in Azoospermia-Like) gene encodes an RNA-binding protein essential for germ cell development and gametogenesis. It is a member of the DAZ gene family, which includes the Y-linked DAZ genes. DAZL is expressed predominantly in the testis and ovary, where it regulates the translation and stability of mRNAs critical for meiosis and germ cell differentiation. Mutations and polymorphisms in DAZL are associated with spermatogenic failure, azoospermia, and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure (non-obstructive azoospermia) | DAZL mutations impair RNA-binding and translational regulation of germ cell mRNAs, leading to meiotic arrest or germ cell loss | PMID: 10615120; ClinVar |
| Male infertility (oligozoospermia) | Polymorphisms (e.g., rs121918346) reduce DAZL expression or function, decreasing sperm count | PMID: 15689448; NCBI Gene |
| Premature ovarian failure (POF) | DAZL variants disrupt oocyte development and folliculogenesis | PMID: 17947298; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Ovary | 6.2 | Medium |
| Fallopian tube | 1.5 | Low |
| Prostate | 0.8 | Not detected |
| Breast | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.4 | Germ cell tumor model |
| Embryonic stem cell (H1) | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.797G>A (p.Arg266His) | Missense | Rare | Reduces RNA-binding affinity; associated with azoospermia |
| c.386A>G (p.Asn129Ser) | Missense | <1% | Impaired germ cell development; linked to oligozoospermia |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein; severe spermatogenic failure |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that disrupt RNA-binding or protein expression lead to loss of DAZL function, causing germ cell arrest and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported for DAZL.
Dominant Negative (DN)
No dominant-negative mutations reported; DAZL acts in a dosage-sensitive manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• DAZL-mediated translational control of germ cell mRNAs (Reactome: R-HSA-9018519)
• Meiotic recombination (KEGG: hsa04114)
Protein Summary
The DAZL protein (295 amino acids) contains an RNA recognition motif (RRM) and a DAZ repeat domain. It binds to the 3' untranslated region (UTR) of target mRNAs, such as SYCP3 and CDC25A, to promote their translation during meiosis. DAZL is essential for the progression of germ cells through meiosis and for the maintenance of the germ cell pool. In humans, DAZL is expressed in both testis and ovary, and its dysfunction leads to infertility in both sexes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAZL Knockout HEK293 Cell Line | EDJ-KQ3688 | Human | 1618 | Details Get a Quote |
| DAZL Knockout HeLa Cell Line | EDJ-KQ53071 | Human | 1618 | Details Get a Quote |
| DAZL Knockout A-549 Cell Line | EDJ-KQ61536 | Human | 1618 | Details Get a Quote |
| DAZL Knockout HCT 116 Cell Line | EDJ-KQ70029 | Human | 1618 | Details Get a Quote |
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