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. 2023 Feb 8;21(1):17–32. doi: 10.18502/ijrm.v21i1.12662

Table 1.

Gene list which has a role in male fertility using GM techniques


Gene name Phenotype Reference
Defb41 Changes in sperm motility and decreased bonding with the egg by in vitro study 24
Defb23/26, Defb23/26/42 Subfertility, decreased motility, premature capacitation 22
Defb1/2/9/10/11/13/15/35/ 50 Decreased sperm motility, increased sperm fragility, premature capacitation, decreased bonding with the egg 25
Brca2 Spermatocytes stop early in prophase I 26
Crisp2/Crisp4 Inflammation of the epididymis resulting in decreased sperm viability and decreased fertility rates 27
Catsper and KSper Infertility without apparent systemic effects 28
Ercc1 Increased DNA damage in testes, increased apoptosis in germ cells 29
Eif4g3 Stopped at the stage of meiosis, spermatocytes fail to exit prophase through the G2/MI transition 30
Eppin Reduction of sperm motility 31
Gpx4 Sperm count decreased significantly, infertility in males, reduced sperm motility, swollen mitochondrial membrane 32
Fkbp6 Stopping at the pachytene stage and increasing apoptosis in germ cells 33
Fimp Completely infertility or severely subfertile 34
H1fnt Oligoasthenoteratospermia, DNA fragmentation, spermatids contain a lot of residual cytoplasms 35
Hipk4 Infertile 36
Izumo1 Infertile 37
Lmtk 2 Stop at spermatid stage, azoospermia 38
M2y2 (Ybx2) Abnormal and multinuclear sperm morphology in spermatids 39
Nanos3 Total loss of spermatogonia 40
Paf-ah1b1 (Lis1) Acrosome damage and tail formation 41
Rec8 Abnormal sister chromosome synapses, azoospermia 42
Slo3 Male infertility 43
Spink2 Oligoasthenoteratospermia to azoospermia 44
Sof1, Spaca6 Completely infertile or severely subfertile 45
Tekt2 Sperm motility decreased significantly 46
Tmem95 Completely infertile or severely subfertile 45
Tssk1/Tssk2 Infertility 47
Defb: Beta defensin, Brca2: Breast cancer 2, Crisp: Cysteine-RIch secretory protein, Catsper/KSper: Cation channel, sperm associated 1, Ercc1: Excision repair cross-complementing rodent repair deficiency, complementation group 1, Eif4g3: Eukaryotic translation initiation factor 4 gamma, 3, Eppin: Epididymal peptidase inhibitor, Gpx4: Glutathione peroxidase 4, Fkbp6: FK506 binding protein 6, Fimp: Fertilization influencing membrane protein, H1fnt: H1.7 linker histone, Hipk4: Homeodomain interacting protein kinase 4, Izumo1: Izumo sperm-egg fusion 1, Lmtk 2: Lemur tyrosine kinase 2, M2y2/Ybx2:Y box protein 2, Nanos3: nanos C2HC-type zinc finger 3, Paf-ah1b1: Platelet-activating factor acetyl hydrolase, isoform 1b, subunit 1, Rec8: REC8 meiotic recombination protein, Slo3/Kcnu1: Kalium channel, subfamily U, member 1, Spink2: Serine peptidase inhibitor, Kazal, Sof1: Sperm-oocyte fusion required 1, Spaca6: Sperm acrosome associated 6, Tekt2: Tektin-t, Tmem95: Transmembrane protein 95, Tssk: Testis specific ser/thr kinase