Male infertility (WP4673)

Pathway(s) of genes involved in male infertility. The list of genes is derived from Krausz et al.(1) and can be sorted in general (common) cell function, endocrine function and specific spermatogenic function.
last edited

Authors

Fehrhart, Egonw, MaintBot, and Eweitz

Cited In

Organism

Homo sapiens

Communities

Rare Diseases

Annotations

Cell Type Ontology: sperm

Pathway Ontology: disease pathway

Disease Ontology: male infertility

Participants

Label Type Compact Identifier
SEPTIN12 GeneProduct ensembl:ENSG00000140623
ABCB1 GeneProduct ensembl:ENSG00000085563
ABLIM1 GeneProduct ensembl:ENSG00000099204
AHR GeneProduct ensembl:ENSG00000106546
AHRR GeneProduct ensembl:ENSG00000063438
APOB GeneProduct ensembl:ENSG00000084674
AR GeneProduct ensembl:ENSG00000169083
ARNTL GeneProduct ensembl:ENSG00000133794
ATM GeneProduct ensembl:ENSG00000149311
BCL2 GeneProduct ensembl:ENSG00000171791
BHMT GeneProduct ensembl:ENSG00000145692
BRCA2 GeneProduct ensembl:ENSG00000139618
CAT GeneProduct ensembl:ENSG00000121691
CDC42BPA GeneProduct ensembl:ENSG00000143776
CHD2 GeneProduct ensembl:ENSG00000173575
CLOCK GeneProduct ensembl:ENSG00000134852
CRISP2 GeneProduct ensembl:ENSG00000124490
CYP17A1 GeneProduct ensembl:ENSG00000148795
CYP1A1 GeneProduct ensembl:ENSG00000140465
CYP26B1 GeneProduct ensembl:ENSG00000003137
DAZL GeneProduct ensembl:ENSG00000092345
EPPIN GeneProduct ensembl:ENSG00000101448
EPSTI1 GeneProduct ensembl:ENSG00000133106
ERCC1 GeneProduct ensembl:ENSG00000012061
ERCC2 GeneProduct ensembl:ENSG00000104884
ESR1 GeneProduct ensembl:ENSG00000091831
ESR2 GeneProduct ensembl:ENSG00000140009
ETV5 GeneProduct ensembl:ENSG00000244405
FAS GeneProduct ensembl:ENSG00000026103
FASLG GeneProduct ensembl:ENSG00000117560
FOLH1 GeneProduct ensembl:ENSG00000086205
GNAO1 GeneProduct ensembl:ENSG00000087258
GPX1 GeneProduct ensembl:ENSG00000233276
H2BFWT GeneProduct ensembl:ENSG00000123569
HLA-DRA GeneProduct ensembl:ENSG00000204287
HORMAD1 GeneProduct ensembl:ENSG00000143452
HORMAD2 GeneProduct ensembl:ENSG00000176635
INSR GeneProduct ensembl:ENSG00000171105
KLK2 GeneProduct ensembl:ENSG00000167751
LIG4 GeneProduct ensembl:ENSG00000174405
LRWD1 GeneProduct ensembl:ENSG00000161036
MAS1L GeneProduct ensembl:ENSG00000204687
MDM2 GeneProduct ensembl:ENSG00000135679
MLH1 GeneProduct ensembl:ENSG00000076242
MLH3 GeneProduct ensembl:ENSG00000119684
MOV10L1 GeneProduct ensembl:ENSG00000073146
MSH4 GeneProduct ensembl:ENSG00000057468
MSH5 GeneProduct ensembl:ENSG00000204410
MSMB GeneProduct ensembl:ENSG00000263639
MTHFD1 GeneProduct ensembl:ENSG00000100714
MTHFR GeneProduct ensembl:ENSG00000177000
MTR GeneProduct ensembl:ENSG00000116984
MTRR GeneProduct ensembl:ENSG00000124275
NANOS1 GeneProduct ensembl:ENSG00000188613
NFE2L2 GeneProduct ensembl:ENSG00000116044
NOS1 GeneProduct ensembl:ENSG00000089250
NOS2 GeneProduct ensembl:ENSG00000007171
NOS3 GeneProduct ensembl:ENSG00000164867
NQO1 GeneProduct ensembl:ENSG00000181019
OR2W3 GeneProduct ensembl:ENSG00000238243
PACRG GeneProduct ensembl:ENSG00000112530
PARP1 GeneProduct ensembl:ENSG00000143799
PEMT GeneProduct ensembl:ENSG00000133027
PEX10 GeneProduct ensembl:ENSG00000157911
PIWIL1 GeneProduct ensembl:ENSG00000125207
PIWIL2 GeneProduct ensembl:ENSG00000197181
PIWIL3 GeneProduct ensembl:ENSG00000184571
PIWIL4 GeneProduct ensembl:ENSG00000134627
PMS2 GeneProduct ensembl:ENSG00000122512
POLG GeneProduct ensembl:ENSG00000140521
PON1 GeneProduct ensembl:ENSG00000005421
PON2 GeneProduct ensembl:ENSG00000105854
PRDM9 GeneProduct ensembl:ENSG00000164256
PRM1 GeneProduct ensembl:ENSG00000175646
PRM2 GeneProduct ensembl:ENSG00000122304
PRMT6 GeneProduct ensembl:ENSG00000198890
PSAT1 GeneProduct ensembl:ENSG00000135069
RAG1 GeneProduct ensembl:ENSG00000166349
REC8 GeneProduct ensembl:ENSG00000100918
RFC1 GeneProduct ensembl:ENSG00000035928
RGS9 GeneProduct ensembl:ENSG00000108370
SHMT1 GeneProduct ensembl:ENSG00000176974
SIRPA GeneProduct ensembl:ENSG00000198053
SIRPG GeneProduct ensembl:ENSG00000089012
SLC16A7 GeneProduct ensembl:ENSG00000118596
SOD2 GeneProduct ensembl:ENSG00000112096
SOD3 GeneProduct ensembl:ENSG00000109610
SOX5 GeneProduct ensembl:ENSG00000134532
SPATA17 GeneProduct ensembl:ENSG00000162814
SPO11 GeneProduct ensembl:ENSG00000054796
SRD5A2 GeneProduct ensembl:ENSG00000277893
STRA8 GeneProduct ensembl:ENSG00000146857
TAS2R38 GeneProduct ensembl:ENSG00000257138
TCN2 GeneProduct ensembl:ENSG00000185339
TEX15 GeneProduct ensembl:ENSG00000133863
TMEM132E GeneProduct ensembl:ENSG00000181291
TNF GeneProduct ensembl:ENSG00000232810
TSSK4 GeneProduct ensembl:ENSG00000139908
TSSK6 GeneProduct ensembl:ENSG00000178093
UBD GeneProduct ensembl:ENSG00000213886
UBE2B GeneProduct ensembl:ENSG00000119048
UBR2 GeneProduct ensembl:ENSG00000024048
USP26 GeneProduct ensembl:ENSG00000134588
USP8 GeneProduct ensembl:ENSG00000138592
XPC GeneProduct ensembl:ENSG00000154767
XRCC2 GeneProduct ensembl:ENSG00000196584
XRCC3 GeneProduct ensembl:ENSG00000126215
XRCC4 GeneProduct ensembl:ENSG00000152422
XRCC5 GeneProduct ensembl:ENSG00000079246
YBX2 GeneProduct ensembl:ENSG00000006047
POLB GeneProduct ensembl:ENSG00000070501
SLC46A1 GeneProduct ensembl:ENSG00000076351
Coenzyme A Metabolite hmdb:HMDB0001423
PRM3 GeneProduct ensembl:ENSG00000178257
DND1 GeneProduct ensembl:ENSG00000256453
DAZ3 GeneProduct ensembl:ENSG00000187191
MMP2 GeneProduct ensembl:ENSG00000087245
LOC203413 GeneProduct None
CREBBP GeneProduct ensembl:ENSG00000005339
KDM3A GeneProduct ensembl:ENSG00000115548
CCNT1 GeneProduct ensembl:ENSG00000129315
CCNK GeneProduct ensembl:ENSG00000090061
DAZ1 GeneProduct ensembl:ENSG00000188120
CDK9 GeneProduct ensembl:ENSG00000136807
DDX4 GeneProduct ensembl:ENSG00000152670
HIST1H4A GeneProduct ensembl:ENSG00000278637
PUM2 GeneProduct ensembl:ENSG00000055917
SEMG1 GeneProduct ensembl:ENSG00000124233
DDX4 GeneProduct ensembl:ENSG00000152670
DAZ4 GeneProduct ensembl:ENSG00000205916
PRM2 GeneProduct ensembl:ENSG00000122304
SEMG1 GeneProduct ensembl:ENSG00000124233
VCX GeneProduct ensembl:ENSG00000182583
CCDC36 GeneProduct ensembl:ENSG00000173421
CCNT2 GeneProduct ensembl:ENSG00000082258
CCNA1 GeneProduct ensembl:ENSG00000133101
SPO11 GeneProduct ensembl:ENSG00000054796
piRNA precursor Rna None
CTCFL GeneProduct ensembl:ENSG00000124092
DAZ2 GeneProduct ensembl:ENSG00000205944
AGO2 GeneProduct ensembl:ENSG00000123908
Amoxicillin Metabolite hmdb:HMDB0015193
CLU GeneProduct ensembl:ENSG00000120885
THBS1 GeneProduct ensembl:ENSG00000137801
Butyryl-CoA Metabolite chebi:15517
PRM2 GeneProduct ensembl:ENSG00000122304
Gentamicin Metabolite chebi:17833
LTF GeneProduct ensembl:ENSG00000012223
CXXC1 GeneProduct ensembl:ENSG00000154832
HIST3H3 GeneProduct ensembl:ENSG00000168148
DDX20 GeneProduct ensembl:ENSG00000064703
TRIP13 GeneProduct ensembl:ENSG00000071539
EP300 GeneProduct ensembl:ENSG00000100393
HMGA1 GeneProduct ensembl:ENSG00000137309
BRDT GeneProduct ensembl:ENSG00000137948
MMP9 GeneProduct ensembl:ENSG00000100985
BRDT GeneProduct ensembl:ENSG00000137948
HIST1H4A GeneProduct ensembl:ENSG00000278637
HIST1H4A GeneProduct ensembl:ENSG00000278637
BRDT GeneProduct ensembl:ENSG00000137948
CCNA1 GeneProduct ensembl:ENSG00000133101
DAZL GeneProduct ensembl:ENSG00000092345
DAZL GeneProduct ensembl:ENSG00000092345
EPPIN GeneProduct ensembl:ENSG00000101448
H2BFWT GeneProduct ensembl:ENSG00000123569
HORMAD1 GeneProduct ensembl:ENSG00000143452
HORMAD2 GeneProduct ensembl:ENSG00000176635
HORMAD1 GeneProduct ensembl:ENSG00000143452
HORMAD2 GeneProduct ensembl:ENSG00000176635
MOV10L1 GeneProduct ensembl:ENSG00000073146
NANOS1 GeneProduct ensembl:ENSG00000188613
NANOS1 GeneProduct ensembl:ENSG00000188613
PIWIL1 GeneProduct ensembl:ENSG00000125207
PIWIL4 GeneProduct ensembl:ENSG00000134627
PIWIL3 GeneProduct ensembl:ENSG00000184571
PIWIL2 GeneProduct ensembl:ENSG00000197181
PRDM9 GeneProduct ensembl:ENSG00000164256
VCX GeneProduct ensembl:ENSG00000182583
CTCFL GeneProduct ensembl:ENSG00000124092
PRDM9 GeneProduct ensembl:ENSG00000164256
PRM1 GeneProduct ensembl:ENSG00000175646
PRM2 GeneProduct ensembl:ENSG00000122304
YBX2 GeneProduct ensembl:ENSG00000006047
PRM1 GeneProduct ensembl:ENSG00000175646
PRM2 GeneProduct ensembl:ENSG00000122304
PRMT6 GeneProduct ensembl:ENSG00000198890
HIST3H3 GeneProduct ensembl:ENSG00000168148
HIST1H4A GeneProduct ensembl:ENSG00000278637
HMGA1 GeneProduct ensembl:ENSG00000137309
HIST1H4A GeneProduct ensembl:ENSG00000278637
POLB GeneProduct ensembl:ENSG00000070501

References

  1. Tekur S, Pawlak A, Guellaen G, Hecht NB. Contrin, the human homologue of a germ-cell Y-box-binding protein: cloning, expression, and chromosomal localization. J Androl. 1999;20(1):135–44. PubMed Europe PMC Scholia
  2. Yan KS, Yan S, Farooq A, Han A, Zeng L, Zhou M-M. Structure and conserved RNA binding of the PAZ domain. Nature. 2003 Nov 27;426(6965):468–74. PubMed Europe PMC Scholia
  3. Kalmykova AI, Klenov MS, Gvozdev VA. Argonaute protein PIWI controls mobilization of retrotransposons in the Drosophila male germline. Nucleic Acids Res. 2005 Apr 7;33(6):2052–9. PubMed Europe PMC Scholia
  4. Reynolds N, Collier B, Maratou K, Bingham V, Speed RM, Taggart M, et al. Dazl binds in vivo to specific transcripts and can regulate the pre-meiotic translation of Mvh in germ cells. Hum Mol Genet. 2005 Dec 15;14(24):3899–909. PubMed Europe PMC Scholia
  5. El-Andaloussi N, Valovka T, Toueille M, Steinacher R, Focke F, Gehrig P, et al. Arginine methylation regulates DNA polymerase beta. Mol Cell. 2006 Apr 7;22(1):51–62. PubMed Europe PMC Scholia
  6. Neale MJ, Keeney S. Clarifying the mechanics of DNA strand exchange in meiotic recombination. Nature. 2006 Jul 13;442(7099):153–8. PubMed Europe PMC Scholia
  7. Chen Y, Sprung R, Tang Y, Ball H, Sangras B, Kim SC, et al. Lysine propionylation and butyrylation are novel post-translational modifications in histones. Mol Cell Proteomics. 2007 May;6(5):812–9. PubMed Europe PMC Scholia
  8. Michaud-Levesque J, Richard S. Thrombospondin-1 is a transcriptional repression target of PRMT6. J Biol Chem. 2009 Aug 7;284(32):21338–46. PubMed Europe PMC Scholia
  9. Wojtasz L, Daniel K, Roig I, Bolcun-Filas E, Xu H, Boonsanay V, et al. Mouse HORMAD1 and HORMAD2, two conserved meiotic chromosomal proteins, are depleted from synapsed chromosome axes with the help of TRIP13 AAA-ATPase. PLoS Genet. 2009 Oct;5(10):e1000702. PubMed Europe PMC Scholia
  10. Paasch U, Heidenreich F, Pursche T, Kuhlisch E, Kettner K, Grunewald S, et al. Identification of increased amounts of eppin protein complex components in sperm cells of diabetic and obese individuals by difference gel electrophoresis. Mol Cell Proteomics. 2011 Aug;10(8):M110.007187. PubMed Europe PMC Scholia
  11. Ginter-Matuszewska B, Kusz K, Spik A, Grzeszkowiak D, Rembiszewska A, Kupryjanczyk J, et al. NANOS1 and PUMILIO2 bind microRNA biogenesis factor GEMIN3, within chromatoid body in human germ cells. Histochem Cell Biol. 2011 Sep;136(3):279–87. PubMed Europe PMC Scholia
  12. O’Rand MG, Widgren EE, Hamil KG, Silva EJ, Richardson RT. Functional studies of eppin. Biochem Soc Trans. 2011 Oct;39(5):1447–9. PubMed Europe PMC Scholia
  13. Gaucher J, Boussouar F, Montellier E, Curtet S, Buchou T, Bertrand S, et al. Bromodomain-dependent stage-specific male genome programming by Brdt. EMBO J. 2012 Oct 3;31(19):3809–20. PubMed Europe PMC Scholia
  14. Kim NH, Kim S-N, Seo D-W, Han J-W, Kim YK. PRMT6 overexpression upregulates TSP-1 and downregulates MMPs: its implication in motility and invasion. Biochem Biophys Res Commun. 2013 Mar 1;432(1):60–5. PubMed Europe PMC Scholia
  15. Vourekas A, Zheng K, Fu Q, Maragkakis M, Alexiou P, Ma J, et al. The RNA helicase MOV10L1 binds piRNA precursors to initiate piRNA processing. Genes Dev. 2015 Mar 15;29(6):617–29. PubMed Europe PMC Scholia
  16. Krausz C, Escamilla AR, Chianese C. Genetics of male infertility: from research to clinic. Reproduction. 2015 Nov;150(5):R159-74. PubMed Europe PMC Scholia
  17. Goudarzi A, Zhang D, Huang H, Barral S, Kwon OK, Qi S, et al. Dynamic Competing Histone H4 K5K8 Acetylation and Butyrylation Are Hallmarks of Highly Active Gene Promoters. Mol Cell. 2016 Apr 21;62(2):169–80. PubMed Europe PMC Scholia
  18. Imai Y, Baudat F, Taillepierre M, Stanzione M, Toth A, de Massy B. The PRDM9 KRAB domain is required for meiosis and involved in protein interactions. Chromosoma. 2017 Dec;126(6):681–95. PubMed Europe PMC Scholia
  19. Aguero T, Jin Z, Chorghade S, Kalsotra A, King ML, Yang J. Maternal Dead-end 1 promotes translation of nanos1 by binding the eIF3 complex. Development. 2017 Oct 15;144(20):3755–65. PubMed Europe PMC Scholia
  20. Altemose N, Noor N, Bitoun E, Tumian A, Imbeault M, Chapman JR, et al. A map of human PRDM9 binding provides evidence for novel behaviors of PRDM9 and other zinc-finger proteins in meiosis. Elife. 2017 Oct 26;6:e28383. PubMed Europe PMC Scholia
  21. Giebler M, Greither T, Müller L, Mösinger C, Behre HM. Altered PIWI-LIKE 1 and PIWI-LIKE 2 mRNA expression in ejaculated spermatozoa of men with impaired sperm characteristics. Asian J Androl. 2018;20(3):260–4. PubMed Europe PMC Scholia
  22. Karaman M, Budak H, Çiftci M. Amoxicillin and gentamicin antibiotics treatment adversely influence the fertility and morphology through decreasing the Dazl gene expression level and increasing the oxidative stress. Arch Physiol Biochem. 2019 Dec;125(5):447–55. PubMed Europe PMC Scholia
  23. Hashemi M-S, Mozdarani H, Ghaedi K, Nasr-Esfahani MH. Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men. Andrology. 2018 Nov;6(6):890–5. PubMed Europe PMC Scholia