ADAD2: Adenosine Deaminase Domain Containing 2
A testis-specific RNA-editing enzyme implicated in spermatogenesis and male infertility
Gene Information Card
| Symbol | ADAD2 |
|---|---|
| Full Name | Adenosine Deaminase Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 161931 ncbi.nlm.nih.gov/gene/161931 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q8NCV1 |
| OMIM ID | 612459 |
| HGNC ID | 26705 |
| Aliases | TENR, ADAD2, FLJ22624 |
Description
ADAD2 (Adenosine Deaminase Domain Containing 2) is a testis-specific gene encoding a protein with an adenosine deaminase domain, similar to the ADAR family of RNA-editing enzymes. It is predominantly expressed in the testis and plays a critical role in spermatogenesis, particularly in the post-meiotic stages of germ cell development. ADAD2 is involved in RNA editing and processing, and its dysfunction is associated with male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss of ADAD2 disrupts RNA editing in spermatids, leading to impaired sperm maturation and reduced fertility | ClinVar, OMIM |
| Spermatogenic failure | Deficiency in ADAD2 causes meiotic arrest and abnormal sperm morphology | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 12.3 | High expression in meiotic cells |
| Spermatids | 8.7 | Post-meiotic expression |
| HEK293 | 0.1 | No significant expression |
| HeLa | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with azoospermia |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Premature stop; linked to spermatogenic failure |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown significance; potential impact on RNA editing |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) result in truncated protein and loss of adenosine deaminase activity, impairing spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported for ADAD2.
Dominant Negative (DN)
No dominant-negative mutations described; ADAD2 likely functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004000 - adenosine deaminase activity | • GO:0003723 - RNA binding |
| • GO:0007283 - spermatogenesis | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm |
Pathways
• RNA editing (adenosine deamination)
• Spermatogenesis - post-meiotic differentiation
Protein Summary
ADAD2 is a 739-amino acid protein containing a conserved adenosine deaminase domain (ADAT2-like) and a double-stranded RNA binding motif. It is localized to the nucleus and cytoplasm of spermatocytes and spermatids, where it catalyzes the deamination of adenosine to inosine in specific RNA transcripts. This RNA editing activity is essential for proper splicing and stability of mRNAs required for sperm head and tail formation. Loss of ADAD2 leads to defective spermatogenesis and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAD2 Knockout HEK293 Cell Line | EDJ-KQ12278 | Human | 161931 | Details Get a Quote |
| ADAD2 Knockout HeLa Cell Line | EDJ-KQ58834 | Human | 161931 | Details Get a Quote |
| ADAD2 Knockout A-549 Cell Line | EDJ-KQ67320 | Human | 161931 | Details Get a Quote |
| ADAD2 Knockout HCT 116 Cell Line | EDJ-KQ75718 | Human | 161931 | Details Get a Quote |
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