male infertility Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001925
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Genes

460 gene mutations causing the male infertility phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADAD1 adenosine deaminase domain containing 1 (testis-specific)
ADAM1A ADAM metallopeptidase domain 1A (pseudogene)
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADCY10 adenylate cyclase 10 (soluble)
ADRA1B adrenoceptor alpha 1B
ADRM1 adhesion regulating molecule 1
AFF4 AF4/FMR2 family, member 4
AGFG1 ArfGAP with FG repeats 1
AGPS alkylglycerone phosphate synthase
AGTPBP1 ATP/GTP binding protein 1
AK7 adenylate kinase 7
AKAP4 A kinase (PRKA) anchor protein 4
AKAP9 A kinase (PRKA) anchor protein 9
AMHR2 anti-Mullerian hormone receptor, type II
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APAF1 apoptotic peptidase activating factor 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARL6 ADP-ribosylation factor-like 6
ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1
ATF4 activating transcription factor 4
ATM ATM serine/threonine kinase
ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN7 ataxin 7
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BAX BCL2-associated X protein
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BCL2L1 BCL2-like 1
BCL2L2 BCL2-like 2
BMP8B bone morphogenetic protein 8b
BOLL boule-like RNA-binding protein
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRDT bromodomain, testis-specific
BRWD1 bromodomain and WD repeat domain containing 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSG basigin (Ok blood group)
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CADM1 cell adhesion molecule 1
CALR3 calreticulin 3
CAMK4 calcium/calmodulin-dependent protein kinase IV
CAPZA3 capping protein (actin filament) muscle Z-line, alpha 3
CATSPER1 cation channel, sperm associated 1
CATSPER2 cation channel, sperm associated 2
CATSPER3 cation channel, sperm associated 3
CATSPER4 cation channel, sperm associated 4
CATSPERD catsper channel auxiliary subunit delta
CBX3 chromobox homolog 3
CBY1 chibby homolog 1 (Drosophila)
CCDC159 coiled-coil domain containing 159
CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough
CCDC79 coiled-coil domain containing 79
CCNA1 cyclin A1
CCNE2 cyclin E2
CDK16 cyclin-dependent kinase 16
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN2A cyclin-dependent kinase inhibitor 2A
CDO1 cysteine dioxygenase type 1
CELF1 CUGBP, Elav-like family member 1
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CGA glycoprotein hormones, alpha polypeptide
CHD5 chromodomain helicase DNA binding protein 5
CIB1 calcium and integrin binding 1 (calmyrin)
CKS2 CDC28 protein kinase regulatory subunit 2
CLCN1 chloride channel, voltage-sensitive 1
CLCN2 chloride channel, voltage-sensitive 2
CLDN11 claudin 11
CLGN calmegin
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CNBD2 cyclic nucleotide binding domain containing 2
CNOT7 CCR4-NOT transcription complex, subunit 7
CNPY4 canopy FGF signaling regulator 4
CPLX1 complexin 1
CREM cAMP responsive element modulator
CRTC1 CREB regulated transcription coactivator 1
CSNK2A2 casein kinase 2, alpha prime polypeptide
CSTF2T cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant
CUL4A cullin 4A
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAZ2 deleted in azoospermia 2
DAZAP1 DAZ associated protein 1
DDX25 DEAD (Asp-Glu-Ala-Asp) box helicase 25
DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4
DERL2 derlin 2
DGKA diacylglycerol kinase, alpha 80kDa
DHCR24 24-dehydrocholesterol reductase
DHH desert hedgehog
DMC1 DNA meiotic recombinase 1
DMD dystrophin
DMRT1 doublesex and mab-3 related transcription factor 1
DMRTC2 DMRT-like family C2
DNAH1 dynein, axonemal, heavy chain 1
DND1 DND microRNA-mediated repression inhibitor 1
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DPY19L2 dpy-19-like 2 (C. elegans)
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNLRB2 dynein, light chain, roadblock-type 2
EFNB2 ephrin-B2
EGR1 early growth response 1
EGR4 early growth response 4
EHD1 EH-domain containing 1
EIF4H eukaryotic translation initiation factor 4H
ELK1 ELK1, member of ETS oncogene family
ELOVL2 ELOVL fatty acid elongase 2
EN1 engrailed homeobox 1
ENO4 enolase family member 4
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
EPB41L2 erythrocyte membrane protein band 4.1-like 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ETV4 ets variant 4
ETV5 ets variant 5
EVX2 even-skipped homeobox 2
EWSR1 EWS RNA-binding protein 1
EXO1 exonuclease 1
EYA4 EYA transcriptional coactivator and phosphatase 4
FADS2 fatty acid desaturase 2
FAM91A1 family with sequence similarity 91, member A1
FANCC Fanconi anemia, complementation group C
FANCL Fanconi anemia, complementation group L
FBXO47 F-box protein 47
FBXO7 F-box protein 7
FGFR3 fibroblast growth factor receptor 3
FKBP4 FK506 binding protein 4, 59kDa
FKBP6 FK506 binding protein 6, 36kDa
FMN1 formin 1
FNDC3A fibronectin type III domain containing 3A
FOXI1 forkhead box I1
FOXP3 forkhead box P3
FUS FUS RNA binding protein
FZD4 frizzled class receptor 4
GAL3ST1 galactose-3-O-sulfotransferase 1
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5
GAMT guanidinoacetate N-methyltransferase
GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA2 glucosidase, beta (bile acid) 2
GDF7 growth differentiation factor 7
GGT1 gamma-glutamyltransferase 1
GJA1 gap junction protein, alpha 1, 43kDa
GLRA1 glycine receptor, alpha 1
GNPAT glyceronephosphate O-acyltransferase
GNRHR gonadotropin-releasing hormone receptor
GOLGA3 golgin A3
GOPC golgi-associated PDZ and coiled-coil motif containing
GPX4 glutathione peroxidase 4
GRID2 glutamate receptor, ionotropic, delta 2
GRM1 glutamate receptor, metabotropic 1
GTF2A1 general transcription factor IIA, 1, 19/37kDa
GTSF1 gametocyte specific factor 1
GUSB glucuronidase, beta
H1FNT H1 histone family, member N, testis-specific
H3F3A H3 histone, family 3A
HBS1L HBS1-like translational GTPase
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HFE2 hemochromatosis type 2 (juvenile)
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HIP1 huntingtin interacting protein 1
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HORMAD1 HORMA domain containing 1
HORMAD2 HORMA domain containing 2
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXD11 homeobox D11
HOXD13 homeobox D13
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA2 heat shock 70kDa protein 2
HSPA4 heat shock 70kDa protein 4
HYDIN HYDIN, axonemal central pair apparatus protein
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
ING2 inhibitor of growth family, member 2
INHA inhibin, alpha
INPP5B inositol polyphosphate-5-phosphatase, 75kDa
INSL3 insulin-like 3 (Leydig cell)
INSL5 insulin-like 5
INSL6 insulin-like 6
IP6K1 inositol hexakisphosphate kinase 1
IZUMO1 izumo sperm-egg fusion 1
JAM3 junctional adhesion molecule 3
JUND jun D proto-oncogene
KATNAL1 katanin p60 subunit A-like 1
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KCNU1 potassium channel, subfamily U, member 1
KDM3A lysine (K)-specific demethylase 3A
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KIAA1715 KIAA1715
KIF18A kinesin family member 18A
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLHL10 kelch-like family member 10
KMT2E lysine (K)-specific methyltransferase 2E
L1CAM L1 cell adhesion molecule
LARGE like-glycosyltransferase
LBR lamin B receptor
LDHC lactate dehydrogenase C
LEP leptin
LEPR leptin receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX9 LIM homeobox 9
LIPE lipase, hormone-sensitive
LMTK2 lemur tyrosine kinase 2
LMX1A LIM homeobox transcription factor 1, alpha
LOC101929327
LPIN1 lipin 1
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LSR lipolysis stimulated lipoprotein receptor
M1AP meiosis 1 associated protein
MAB21L1 mab-21-like 1 (C. elegans)
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAEL maelstrom spermatogenic transposon silencer
MAN2A2 mannosidase, alpha, class 2A, member 2
MAP2 microtubule-associated protein 2
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MAP7 microtubule-associated protein 7
MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2
MCM8 minichromosome maintenance complex component 8
MCPH1 microcephalin 1
MDC1 mediator of DNA-damage checkpoint 1
MECP2 methyl CpG binding protein 2
MEI1 meiosis inhibitor 1
MEIG1 meiosis/spermiogenesis associated 1
MEIOB meiosis specific with OB domains
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIR9-3 microRNA 9-3
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MMEL1 membrane metallo-endopeptidase-like 1
MNS1 meiosis-specific nuclear structural 1
MORC1 MORC family CW-type zinc finger 1
MOV10L1 Mov10 RISC complex RNA helicase like 1
MPZ myelin protein zero
MSH4 mutS homolog 4
MSH5 mutS homolog 5
MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1
MYO7A myosin VIIA
NANOS2 nanos homolog 2 (Drosophila)
NANOS3 nanos homolog 3 (Drosophila)
NCOA5 nuclear receptor coactivator 5
NDC1 NDC1 transmembrane nucleoporin
NEK1 NIMA-related kinase 1
NEURL1 neuralized E3 ubiquitin protein ligase 1
NFIA nuclear factor I/A
NHLH2 nescient helix loop helix 2
NOS1 nitric oxide synthase 1 (neuronal)
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPEPPS aminopeptidase puromycin sensitive
NPHP1 nephronophthisis 1 (juvenile)
NPHP4 nephronophthisis 4
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUP210L nucleoporin 210kDa-like
NXF2 nuclear RNA export factor 2
NXPH1 neurexophilin 1
OAZ3 ornithine decarboxylase antizyme 3
OCA2 oculocutaneous albinism II
OCLN occludin
ODF1 outer dense fiber of sperm tails 1
ODF2 outer dense fiber of sperm tails 2
P2RX1 purinergic receptor P2X, ligand gated ion channel, 1
PABPN1L poly(A) binding protein, nuclear 1-like (cytoplasmic)
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
PAIP2 poly(A) binding protein interacting protein 2
PANK2 pantothenate kinase 2
PAPOLB poly(A) polymerase beta (testis specific)
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX8 paired box 8
PDILT protein disulfide isomerase-like, testis expressed
PEX3 peroxisomal biogenesis factor 3
PFDN5 prefoldin subunit 5
PGK2 phosphoglycerate kinase 2
PGM3 phosphoglucomutase 3
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PICK1 protein interacting with PRKCA 1
PIFO primary cilia formation
PIWIL1 piwi-like RNA-mediated gene silencing 1
PIWIL2 piwi-like RNA-mediated gene silencing 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCD4 phospholipase C, delta 4
PLD6 phospholipase D family, member 6
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
PLIN2 perilipin 2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme
PRDM14 PR domain containing 14
PRDM9 PR domain containing 9
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRLR prolactin receptor
PRND prion protein 2 (dublet)
PRNP prion protein
PROP1 PROP paired-like homeobox 1
PRSS37 protease, serine, 37
PTCH1 patched 1
PTDSS2 phosphatidylserine synthase 2
PTH2 parathyroid hormone 2
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B)
PVRL3 poliovirus receptor-related 3
RABL2A RAB, member of RAS oncogene family-like 2A
RAD21L1 RAD21-like 1 (S. pombe)
RAD23B RAD23 homolog B (S. cerevisiae)
RAD51C RAD51 paralog C
RANBP1 RAN binding protein 1
RANBP9 RAN binding protein 9
RARA retinoic acid receptor, alpha
RARG retinoic acid receptor, gamma
RBM5 RNA binding motif protein 5
REC8 REC8 meiotic recombination protein
RELN reelin
RET ret proto-oncogene
RIMBP3 RIMS binding protein 3
RNF17 ring finger protein 17
RNF41 ring finger protein 41, E3 ubiquitin protein ligase
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
RORB RAR-related orphan receptor B
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RXFP2 relaxin/insulin-like family peptide receptor 2
RXRB retinoid X receptor, beta
SAFB scaffold attachment factor B
SAMD4A sterile alpha motif domain containing 4A
SBF1 SET binding factor 1
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SEPT10 septin 10
SEPT12 septin 12
SEPT4 septin 4
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SGMS1 sphingomyelin synthase 1
SGOL2 shugoshin-like 2 (S. pombe)
SGPL1 sphingosine-1-phosphate lyase 1
SH3PXD2B SH3 and PX domains 2B
SIAH1 siah E3 ubiquitin protein ligase 1
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SIX5 SIX homeobox 5
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31
SLC26A8 solute carrier family 26 (anion exchanger), member 8
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
SLC9C1 solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1
SMC1B structural maintenance of chromosomes 1B
SMCP sperm mitochondria-associated cysteine-rich protein
SMS spermine synthase
SNAI2 snail family zinc finger 2
SOX3 SRY (sex determining region Y)-box 3
SP4 Sp4 transcription factor
SPACA1 sperm acrosome associated 1
SPAG16 sperm associated antigen 16
SPAG6 sperm associated antigen 6
SPATA22 spermatogenesis associated 22
SPEF2 sperm flagellar 2
SPEM1 spermatid maturation 1
SPO11 SPO11 meiotic protein covalently bound to DSB
SPTBN4 spectrin, beta, non-erythrocytic 4
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
STK11 serine/threonine kinase 11
STK36 serine/threonine kinase 36
STX2 syntaxin 2
STYX serine/threonine/tyrosine interacting protein
SUN1 Sad1 and UNC84 domain containing 1
SYCE1 synaptonemal complex central element protein 1
SYCE2 synaptonemal complex central element protein 2
SYCE3 synaptonemal complex central element protein 3
SYCP1 synaptonemal complex protein 1
SYCP2 synaptonemal complex protein 2
SYCP3 synaptonemal complex protein 3
T T, brachyury homolog (mouse)
TALDO1 transaldolase 1
TARBP2 TAR (HIV-1) RNA binding protein 2
TASP1 taspase, threonine aspartase, 1
TBC1D20 TBC1 domain family, member 20
TBPL1 TBP-like 1
TCTE1 t-complex-associated-testis-expressed 1
TCTE3 t-complex-associated-testis-expressed 3
TCTEX1D2 Tctex1 domain containing 2
TDRD1 tudor domain containing 1
TDRD5 tudor domain containing 5
TDRD6 tudor domain containing 6
TDRD7 tudor domain containing 7
TDRD9 tudor domain containing 9
TDRKH tudor and KH domain containing
TEKT2 tektin 2 (testicular)
TEX101 testis expressed 101
TEX12 testis expressed 12
TEX14 testis expressed 14
TEX15 testis expressed 15
THEG theg spermatid protein
TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1
TLR6 toll-like receptor 6
TMF1 TATA element modulatory factor 1
TNP1 transition protein 1 (during histone to protamine replacement)
TNP2 transition protein 2 (during histone to protamine replacement)
TP73 tumor protein p73
TPGS1 tubulin polyglutamylase complex subunit 1
TPST2 tyrosylprotein sulfotransferase 2
TSC22D3 TSC22 domain family, member 3
TSHR thyroid stimulating hormone receptor
TSSK6 testis-specific serine kinase 6
TTLL1 tubulin tyrosine ligase-like family member 1
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBB ubiquitin B
UBE2B ubiquitin-conjugating enzyme E2B
UBR2 ubiquitin protein ligase E3 component n-recognin 2
UNC5C unc-5 homolog C (C. elegans)
USP1 ubiquitin specific peptidase 1
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
USP42 ubiquitin specific peptidase 42
UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)
VANGL2 VANGL planar cell polarity protein 2
VDAC3 voltage-dependent anion channel 3
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VRK1 vaccinia related kinase 1
VSX2 visual system homeobox 2
WNT7A wingless-type MMTV integration site family, member 7A
WT1 Wilms tumor 1
YBX2 Y box binding protein 2
YBX3 Y box binding protein 3
ZBTB16 zinc finger and BTB domain containing 16
ZC3HC1 zinc finger, C3HC-type containing 1
ZGLP1 zinc finger, GATA-like protein 1
ZNF148 zinc finger protein 148
ZNF384 zinc finger protein 384
ZPBP zona pellucida binding protein