Male infertility: genes and variants
Male infertility is linked to 1 analyzed protein (AR). 7 DNA variants are known to cause it; 11 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Male infertility
AR: Androgen receptor
Androgen binding redirects its transcriptional program to control male sexual differentiation, reproductive physiology, muscle and bone biology, and other androgen-responsive processes. Loss-of-function variants cause androgen insensitivity, CAG expansion causes spinal and bulbar muscular atrophy, and persistent signaling drives prostate cancer.
7 disease-causing and 11 uncertain variants in AR are linked to Male infertility.
Where Male infertility variants cluster
- AR Interaction with CCAR1 (positions 592–919): 6 of 7 disease-causing changes, 2.4× more than its size predicts.
Known disease-causing variants in Male infertility
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AR R856H | 856 | NR LBD | Disease-causing (★★★★) |
| AR N757S | 757 | NR LBD | Disease-causing (★★★★) |
| AR D829V | 829 | NR LBD | Disease-causing (★) |
| AR R618W | 618 | Nuclear receptor | Disease-causing (★) |
| AR R787Q | 787 | NR LBD | Disease-causing (★) |
| AR D297V | 297 | Modulating | Disease-causing (★) |
| AR C687R | 687 | NR LBD | Disease-causing (★) |
Same protein, different disease
- Androgen resistance syndrome is also caused by AR variants; they fall mostly in different places as the Male infertility variants (85 disease-causing).
- Kennedy disease is also caused by AR variants; they fall mostly in different places as the Male infertility variants (46 disease-causing).
- Differences in sex development is also caused by AR variants; they fall mostly in different places as the Male infertility variants (9 disease-causing).
- Partial androgen insensitivity syndrome is also caused by AR variants; they fall mostly in different places as the Male infertility variants (7 disease-causing).
- Ovarian cancer is also caused by AR variants; they fall mostly in different places as the Male infertility variants (4 disease-causing).
Diseases related to Male infertility
- Androgen resistance syndrome, also linked to AR
- Kennedy disease, also linked to AR
- Ovarian cancer, also linked to AR
- Differences in sex development, also linked to AR
- Male infertility with azoospermia or oligozoospermia due to single gene mutation, also linked to AR
- Partial androgen insensitivity syndrome, also linked to AR
- Disorder of sexual differentiation, also linked to AR
- Prostate cancer, also linked to AR
- Hypospadias, also linked to AR
Frequently asked questions
Which genes are linked to Male infertility?
In CATVariant, Male infertility is linked to 1 analyzed protein: AR (Androgen receptor).
How many genetic variants are linked to Male infertility?
18 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.
Which uncertain variants in Male infertility look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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