Male infertility (WP4673)

Homo sapiens

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.


Friederike Ehrhart , Egon Willighagen , and Eric Weitz


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Homo sapiens


Rare Diseases


Cell Type Ontology


Pathway Ontology

disease pathway

Disease Ontology

male infertility


Label Type Compact URI Comment
Coenzyme A Metabolite hmdb:HMDB0001423
Amoxicillin Metabolite hmdb:HMDB0015193
Butyryl-CoA Metabolite chebi:15517
Gentamicin Metabolite chebi:17833
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 also known as PCFT1
PRM3 GeneProduct ensembl:ENSG00000178257
DND1 GeneProduct ensembl:ENSG00000256453
DAZ3 GeneProduct ensembl:ENSG00000187191
MMP2 GeneProduct ensembl:ENSG00000087245
CREBBP GeneProduct ensembl:ENSG00000005339
KDM3A GeneProduct ensembl:ENSG00000115548 Alternative name JMJD1A, in the article faulty as JMJDIA
CCNT1 GeneProduct ensembl:ENSG00000129315
CCNK GeneProduct ensembl:ENSG00000090061
DAZ1 GeneProduct ensembl:ENSG00000188120
CDK9 GeneProduct ensembl:ENSG00000136807
DDX4 GeneProduct ensembl:ENSG00000152670 MVH (mouse vasa homolog) - human VASA gene - DDX4 gene symbol
HIST1H4A GeneProduct ensembl:ENSG00000278637
PUM2 GeneProduct ensembl:ENSG00000055917 PUMILIO2
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 IHO1
CCNT2 GeneProduct ensembl:ENSG00000082258
CCNA1 GeneProduct ensembl:ENSG00000133101
SPO11 GeneProduct ensembl:ENSG00000054796
CTCFL GeneProduct ensembl:ENSG00000124092
DAZ2 GeneProduct ensembl:ENSG00000205944
AGO2 GeneProduct ensembl:ENSG00000123908
CLU GeneProduct ensembl:ENSG00000120885
THBS1 GeneProduct ensembl:ENSG00000137801 TSP-1
PRM2 GeneProduct ensembl:ENSG00000122304
LTF GeneProduct ensembl:ENSG00000012223
CXXC1 GeneProduct ensembl:ENSG00000154832
HIST3H3 GeneProduct ensembl:ENSG00000168148
DDX20 GeneProduct ensembl:ENSG00000064703 GEMIN3
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


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