Genes involved in male infertility (Homo sapiens)

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6216102017198151837211117141922209, 1341713, 2383152211DNAsynapsed chromosome axisREC8BumicroRNP 15S particleRNA-Induced Silencing Complex1. Butyrylation of H4 by EP300 or CREBBP2. Stimulates binding of butyrylated H4 to BRDT3. Compelex of H4(Bu) and BRDT inhibits sperm cell development specific genesP-TEFb complexDNAMePRMT6common cell functionBRDTHORMAD1 and HORMAD2retrotransposonsNANOS1piRNAPRDM9PIWILEPPINEndocrine functionPIWIL 1-4interacts with different proteinsthat conctrol the translation of mRNAs of spermatogenesis associated proteinsPRM1-3sperm specific histone like proteinsDAZLSpecific spermatogenic functionH2BFWT a sperm cell specific histoneMOV10L1binds piRNA precursors, unwinds them for further processingSperm specific gene expressionMSMBPRMT6BRDTCATARNTLSEMG1STRA8MSH4UBR2PARP1BRCA2DAZ3TNFPRM2LIG4HIST3H3PEX10TAS2R38EPPINCoenzyme ASIRPACDK9DDX4PRM3SLC46A1FASLGRAG1BCL2PACRGYBX2XRCC4DAZ2PON2CDC42BPAHORMAD1USP26HORMAD2XRCC2PEMTAmoxicillinSOX5CRISP2SLC16A7PIWIL4MAS1LSOD3EP300FOLH1CCNKSHMT1SEPT12PSAT1TRIP13DND1ERCC2MTHFD1CREBBPKDM3ATEX15MTHFRLRWD1BHMTNOS3CLOCKTSSK6CLUNOS2AGO2KLK2OR2W3PRDM9AHRRNFE2L2CYP1A1MOV10L1POLBPIWIL2CCDC36SRD5A2MLH1MTRXRCC3MMP2ABLIM1SPATA17HMGA1LOC203413CHD2DAZ4H2BFWTEPSTI1GPX1SPO11SOD2GentamicinPMS2TSSK4CCNA1CTCFLAHRVCXTMEM132EAPOBPRM1PUM2UBDATMPON1XPCPRM2SPO11GNAO1MLH3ARLTFCYP17A1PRM2ERCC1CCNT2XRCC5REC8Butyryl-CoARFC1MMP9NOS1UBE2BCXXC1FASTCN2DAZ1THBS1RGS9SEMG1DDX4MDM2HLA-DRADDX20PIWIL1ESR1PIWIL3NANOS1ABCB1MTRRMSH5CCNT1ESR2POLGUSP8DAZLINSRSIRPGNQO1ETV5HIST1H4ApiRNA precursorCYP26B1BRDTHIST1H4ABuHIST1H4ABRDTCCNA1DAZLDAZLEPPINH2BFWTHORMAD1HORMAD2HORMAD1HORMAD2DNAsynapsed chromosome axis1616MOV10L1NANOS1NANOS121PIWIL1PIWIL4PIWIL3PIWIL29, 139, 13piRNA9, 13PRDM9VCXCTCFL19PRDM912, 191917Pathways of genes involved in specific spermatogenic functionPRM1PRM2YBX2PRM1PRM218PRMT6HIST3H3HIST1H4AHMGA1HIST1H4AMeMe20POLBMe20


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.

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  1. El-Andaloussi N, Valovka T, Toueille M, Steinacher R, Focke F, Gehrig P, Covic M, Hassa PO, Schär P, Hübscher U, Hottiger MO; ''Arginine methylation regulates DNA polymerase beta.''; Mol Cell, 2006 PubMed Europe PMC
  2. Paasch U, Heidenreich F, Pursche T, Kuhlisch E, Kettner K, Grunewald S, Kratzsch J, Dittmar G, Glander HJ, Hoflack B, Kriegel TM; ''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 PubMed Europe PMC
  3. Chen Y, Sprung R, Tang Y, Ball H, Sangras B, Kim SC, Falck JR, Peng J, Gu W, Zhao Y; ''Lysine propionylation and butyrylation are novel post-translational modifications in histones.''; Mol Cell Proteomics, 2007 PubMed Europe PMC
  4. Aguero T, Jin Z, Chorghade S, Kalsotra A, King ML, Yang J; ''Maternal Dead-end 1 promotes translation ofnanos1by binding the eIF3 complex.''; Development, 2017 PubMed Europe PMC
  5. Hashemi MS, 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 PubMed Europe PMC
  6. Krausz C, Escamilla AR, Chianese C; ''Genetics of male infertility: from research to clinic.''; Reproduction, 2015 PubMed Europe PMC
  7. Reynolds N, Collier B, Maratou K, Bingham V, Speed RM, Taggart M, Semple CA, Gray NK, Cooke HJ; ''Dazl binds in vivo to specific transcripts and can regulate the pre-meiotic translation of Mvh in germ cells.''; Hum Mol Genet, 2005 PubMed Europe PMC
  8. 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, 2018 PubMed Europe PMC
  9. Yan KS, Yan S, Farooq A, Han A, Zeng L, Zhou MM; ''Structure and conserved RNA binding of the PAZ domain.''; Nature, 2003 PubMed Europe PMC
  10. O'Rand MG, Widgren EE, Hamil KG, Silva EJ, Richardson RT; ''Functional studies of eppin.''; Biochem Soc Trans, 2011 PubMed Europe PMC
  11. Gaucher J, Boussouar F, Montellier E, Curtet S, Buchou T, Bertrand S, Hery P, Jounier S, Depaux A, Vitte AL, Guardiola P, Pernet K, Debernardi A, Lopez F, Holota H, Imbert J, Wolgemuth DJ, Gérard M, Rousseaux S, Khochbin S; ''Bromodomain-dependent stage-specific male genomeprogramming by Brdt.''; EMBO J, 2012 PubMed Europe PMC
  12. Neale MJ, Keeney S; ''Clarifying the mechanics of DNA strand exchange in meiotic recombination.''; Nature, 2006 PubMed Europe PMC
  13. Giebler M, Greither T, Müller L, Mösinger C, Behre HM; ''AlteredPIWI-LIKE 1andPIWI-LIKE 2mRNA expression in ejaculated spermatozoa of men with impaired sperm characteristics.''; Asian J Androl, 2018 PubMed Europe PMC
  14. Vourekas A, Zheng K, Fu Q, Maragkakis M, Alexiou P, Ma J, Pillai RS, Mourelatos Z, Wang PJ; ''The RNA helicase MOV10L1 binds piRNA precursors to initiate piRNA processing.''; Genes Dev, 2015 PubMed Europe PMC
  15. Michaud-Levesque J, Richard S; ''Thrombospondin-1 is a transcriptional repression target of PRMT6.''; J Biol Chem, 2009 PubMed Europe PMC
  16. Wojtasz L, Daniel K, Roig I, Bolcun-Filas E, Xu H, Boonsanay V, Eckmann CR, Cooke HJ, Jasin M, Keeney S, McKay MJ, Toth A; ''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 PubMed Europe PMC
  17. 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 PubMed Europe PMC
  18. 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 PubMed Europe PMC
  19. Altemose N, Noor N, Bitoun E, Tumian A, Imbeault M, Chapman JR, Aricescu AR, Myers SR; ''A map of human PRDM9 binding provides evidence for novel behaviors of PRDM9 and other zinc-finger proteins in meiosis.''; Elife, 2017 PubMed Europe PMC
  20. Kim NH, Kim SN, Seo DW, Han JW, Kim YK; ''PRMT6 overexpression upregulates TSP-1 and downregulates MMPs: its implication in motility and invasion.''; Biochem Biophys Res Commun, 2013 PubMed Europe PMC
  21. Ginter-Matuszewska B, Kusz K, Spik A, Grzeszkowiak D, Rembiszewska A, Kupryjanczyk J, Jaruzelska J; ''NANOS1 and PUMILIO2 bind microRNA biogenesis factor GEMIN3, within chromatoid body in human germ cells.''; Histochem Cell Biol, 2011 PubMed Europe PMC
  22. Goudarzi A, Zhang D, Huang H, Barral S, Kwon OK, Qi S, Tang Z, Buchou T, Vitte AL, He T, Cheng Z, Montellier E, Gaucher J, Curtet S, Debernardi A, Charbonnier G, Puthier D, Petosa C, Panne D, Rousseaux S, Roeder RG, Zhao Y, Khochbin S; ''Dynamic Competing Histone H4 K5K8 Acetylation and Butyrylation Are Hallmarks of Highly Active Gene Promoters.''; Mol Cell, 2016 PubMed Europe PMC
  23. Kalmykova AI, Klenov MS, Gvozdev VA; ''Argonaute protein PIWI controls mobilization of retrotransposons in the Drosophila male germline.''; Nucleic Acids Res, 2005 PubMed Europe PMC


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106810view13:29, 17 September 2019MaintBotHMDB identifier normalization
105359view07:58, 4 August 2019EgonwIt's a modification
105324view10:48, 30 July 2019Fehrhartwork in progress
105323view09:02, 30 July 2019Fehrhartwork in progress
105322view09:00, 30 July 2019Fehrhartadded PRDM9
105321view08:31, 30 July 2019Fehrhartadded NANOS and PIWIL
105299view13:56, 29 July 2019EgonwReplaced a secondary ChEBI identifiers with a primary identifier.
105298view12:00, 29 July 2019FehrhartAdded MOV10L1
105297view11:33, 29 July 2019FehrhartOntology Term : 'disease pathway' added !
105296view11:33, 29 July 2019FehrhartOntology Term : 'sperm' added !
105295view11:33, 29 July 2019FehrhartOntology Term : 'male infertility' added !
105294view11:31, 29 July 2019Fehrhartadded HORMAD section
105293view11:12, 29 July 2019FehrhartModified description
105292view11:11, 29 July 2019FehrhartNew pathway

External references


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NameTypeDatabase referenceComment
ABCB1GeneProductENSG00000085563 (Ensembl)
ABLIM1GeneProductENSG00000099204 (Ensembl)
AGO2GeneProductENSG00000123908 (Ensembl)
AHRGeneProductENSG00000106546 (Ensembl)
AHRRGeneProductENSG00000063438 (Ensembl)
APOBGeneProductENSG00000084674 (Ensembl)
ARGeneProductENSG00000169083 (Ensembl)
ARNTLGeneProductENSG00000133794 (Ensembl)
ATMGeneProductENSG00000149311 (Ensembl)
AmoxicillinMetaboliteHMDB0015193 (HMDB)
BCL2GeneProductENSG00000171791 (Ensembl)
BHMTGeneProductENSG00000145692 (Ensembl)
BRCA2GeneProductENSG00000139618 (Ensembl)
BRDTGeneProductENSG00000137948 (Ensembl)
Butyryl-CoAMetaboliteCHEBI:15517 (ChEBI)
CATGeneProductENSG00000121691 (Ensembl)
CCDC36GeneProductENSG00000173421 (Ensembl) IHO1
CCNA1GeneProductENSG00000133101 (Ensembl)
CCNKGeneProductENSG00000090061 (Ensembl)
CCNT1GeneProductENSG00000129315 (Ensembl)
CCNT2GeneProductENSG00000082258 (Ensembl)
CDC42BPAGeneProductENSG00000143776 (Ensembl)
CDK9GeneProductENSG00000136807 (Ensembl)
CHD2GeneProductENSG00000173575 (Ensembl)
CLOCKGeneProductENSG00000134852 (Ensembl)
CLUGeneProductENSG00000120885 (Ensembl)
CREBBPGeneProductENSG00000005339 (Ensembl)
CRISP2GeneProductENSG00000124490 (Ensembl)
CTCFLGeneProductENSG00000124092 (Ensembl)
CXXC1GeneProductENSG00000154832 (Ensembl)
CYP17A1GeneProductENSG00000148795 (Ensembl)
CYP1A1GeneProductENSG00000140465 (Ensembl)
CYP26B1GeneProductENSG00000003137 (Ensembl)
Coenzyme AMetaboliteHMDB0001423 (HMDB)
DAZ1GeneProductENSG00000188120 (Ensembl)
DAZ2GeneProductENSG00000205944 (Ensembl)
DAZ3GeneProductENSG00000187191 (Ensembl)
DAZ4GeneProductENSG00000205916 (Ensembl)
DAZLGeneProductENSG00000092345 (Ensembl)
DDX20GeneProductENSG00000064703 (Ensembl) GEMIN3
DDX4GeneProductENSG00000152670 (Ensembl)
DND1GeneProductENSG00000256453 (Ensembl)
EP300GeneProductENSG00000100393 (Ensembl)
EPPINGeneProductENSG00000101448 (Ensembl)
EPSTI1GeneProductENSG00000133106 (Ensembl)
ERCC1GeneProductENSG00000012061 (Ensembl)
ERCC2GeneProductENSG00000104884 (Ensembl)
ESR1GeneProductENSG00000091831 (Ensembl)
ESR2GeneProductENSG00000140009 (Ensembl)
ETV5GeneProductENSG00000244405 (Ensembl)
FASGeneProductENSG00000026103 (Ensembl)
FASLGGeneProductENSG00000117560 (Ensembl)
FOLH1GeneProductENSG00000086205 (Ensembl)
GNAO1GeneProductENSG00000087258 (Ensembl)
GPX1GeneProductENSG00000233276 (Ensembl)
GentamicinMetaboliteCHEBI:17833 (ChEBI)
H2BFWTGeneProductENSG00000123569 (Ensembl)
HIST1H4AGeneProductENSG00000278637 (Ensembl)
HIST3H3GeneProductENSG00000168148 (Ensembl)
HLA-DRAGeneProductENSG00000204287 (Ensembl)
HMGA1GeneProductENSG00000137309 (Ensembl)
HORMAD1GeneProductENSG00000143452 (Ensembl)
HORMAD2GeneProductENSG00000176635 (Ensembl)
INSRGeneProductENSG00000171105 (Ensembl)
KDM3AGeneProductENSG00000115548 (Ensembl) Alternative name JMJD1A, in the article faulty as JMJDIA
KLK2GeneProductENSG00000167751 (Ensembl)
LIG4GeneProductENSG00000174405 (Ensembl)
LOC203413GeneProductLocus without annotation yet
LRWD1GeneProductENSG00000161036 (Ensembl)
LTFGeneProductENSG00000012223 (Ensembl)
MAS1LGeneProductENSG00000204687 (Ensembl)
MDM2GeneProductENSG00000135679 (Ensembl)
MLH1GeneProductENSG00000076242 (Ensembl)
MLH3GeneProductENSG00000119684 (Ensembl)
MMP2GeneProductENSG00000087245 (Ensembl)
MMP9GeneProductENSG00000100985 (Ensembl)
MOV10L1GeneProductENSG00000073146 (Ensembl)
MSH4GeneProductENSG00000057468 (Ensembl)
MSH5GeneProductENSG00000204410 (Ensembl)
MSMBGeneProductENSG00000263639 (Ensembl)
MTHFD1GeneProductENSG00000100714 (Ensembl)
MTHFRGeneProductENSG00000177000 (Ensembl)
MTRGeneProductENSG00000116984 (Ensembl)
MTRRGeneProductENSG00000124275 (Ensembl)
NANOS1GeneProductENSG00000188613 (Ensembl)
NFE2L2GeneProductENSG00000116044 (Ensembl)
NOS1GeneProductENSG00000089250 (Ensembl)
NOS2GeneProductENSG00000007171 (Ensembl)
NOS3GeneProductENSG00000164867 (Ensembl)
NQO1GeneProductENSG00000181019 (Ensembl)
OR2W3GeneProductENSG00000238243 (Ensembl)
PACRGGeneProductENSG00000112530 (Ensembl)
PARP1GeneProductENSG00000143799 (Ensembl)
PEMTGeneProductENSG00000133027 (Ensembl)
PEX10GeneProductENSG00000157911 (Ensembl)
PIWIL1GeneProductENSG00000125207 (Ensembl)
PIWIL2GeneProductENSG00000197181 (Ensembl)
PIWIL3GeneProductENSG00000184571 (Ensembl)
PIWIL4GeneProductENSG00000134627 (Ensembl)
PMS2GeneProductENSG00000122512 (Ensembl)
POLBGeneProductENSG00000070501 (Ensembl)
POLGGeneProductENSG00000140521 (Ensembl)
PON1GeneProductENSG00000005421 (Ensembl)
PON2GeneProductENSG00000105854 (Ensembl)
PRDM9GeneProductENSG00000164256 (Ensembl)
PRM1GeneProductENSG00000175646 (Ensembl)
PRM2GeneProductENSG00000122304 (Ensembl)
PRM3GeneProductENSG00000178257 (Ensembl)
PRMT6GeneProductENSG00000198890 (Ensembl)
PSAT1GeneProductENSG00000135069 (Ensembl)
PUM2GeneProductENSG00000055917 (Ensembl) PUMILIO2
RAG1GeneProductENSG00000166349 (Ensembl)
REC8GeneProductENSG00000100918 (Ensembl)
RFC1GeneProductENSG00000035928 (Ensembl)
RGS9GeneProductENSG00000108370 (Ensembl)
SEMG1GeneProductENSG00000124233 (Ensembl)
SEPT12GeneProductENSG00000140623 (Ensembl)
SHMT1GeneProductENSG00000176974 (Ensembl)
SIRPAGeneProductENSG00000198053 (Ensembl)
SIRPGGeneProductENSG00000089012 (Ensembl)
SLC16A7GeneProductENSG00000118596 (Ensembl)
SLC46A1GeneProductENSG00000076351 (Ensembl) also known as PCFT1
SOD2GeneProductENSG00000112096 (Ensembl)
SOD3GeneProductENSG00000109610 (Ensembl)
SOX5GeneProductENSG00000134532 (Ensembl)
SPATA17GeneProductENSG00000162814 (Ensembl)
SPO11GeneProductENSG00000054796 (Ensembl)
SRD5A2GeneProductENSG00000277893 (Ensembl)
STRA8GeneProductENSG00000146857 (Ensembl)
TAS2R38GeneProductENSG00000257138 (Ensembl)
TCN2GeneProductENSG00000185339 (Ensembl)
TEX15GeneProductENSG00000133863 (Ensembl)
THBS1GeneProductENSG00000137801 (Ensembl) TSP-1
TMEM132EGeneProductENSG00000181291 (Ensembl)
TNFGeneProductENSG00000232810 (Ensembl)
TRIP13GeneProductENSG00000071539 (Ensembl)
TSSK4GeneProductENSG00000139908 (Ensembl)
TSSK6GeneProductENSG00000178093 (Ensembl)
UBDGeneProductENSG00000213886 (Ensembl)
UBE2BGeneProductENSG00000119048 (Ensembl)
UBR2GeneProductENSG00000024048 (Ensembl)
USP26GeneProductENSG00000134588 (Ensembl)
USP8GeneProductENSG00000138592 (Ensembl)
VCXGeneProductENSG00000182583 (Ensembl)
XPCGeneProductENSG00000154767 (Ensembl)
XRCC2GeneProductENSG00000196584 (Ensembl)
XRCC3GeneProductENSG00000126215 (Ensembl)
XRCC4GeneProductENSG00000152422 (Ensembl)
XRCC5GeneProductENSG00000079246 (Ensembl)
YBX2GeneProductENSG00000006047 (Ensembl)
piRNA precursorRna

Annotated Interactions

No annotated interactions

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