female 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:0001926
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Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACVR2A activin A receptor, type IIA
ADRM1 adhesion regulating molecule 1
AFF1 AF4/FMR2 family, member 1
AFP alpha-fetoprotein
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AMBP alpha-1-microglobulin/bikunin precursor
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AR androgen receptor
ARID5B AT rich interactive domain 5B (MRF1-like)
ARNT aryl hydrocarbon receptor nuclear translocator
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATF4 activating transcription factor 4
ATM ATM serine/threonine kinase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN7 ataxin 7
BDNF brain-derived neurotrophic factor
BMPR1B bone morphogenetic protein receptor, type IB
BRCA2 breast cancer 2, early onset
BRWD1 bromodomain and WD repeat domain containing 1
BSG basigin (Ok blood group)
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CBS cystathionine-beta-synthase
CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough
CCDC79 coiled-coil domain containing 79
CCND2 cyclin D2
CD9 CD9 molecule
CDC20 cell division cycle 20
CDC25B cell division cycle 25B
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CEP290 centrosomal protein 290kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CGA glycoprotein hormones, alpha polypeptide
CKS2 CDC28 protein kinase regulatory subunit 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CPEB1 cytoplasmic polyadenylation element binding protein 1
CRTC1 CREB regulated transcription coactivator 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAZ2 deleted in azoospermia 2
DDR2 discoidin domain receptor tyrosine kinase 2
DFNB31 deafness, autosomal recessive 31
DHCR24 24-dehydrocholesterol reductase
DICER1 dicer 1, ribonuclease type III
DLGAP5 discs, large (Drosophila) homolog-associated protein 5
DMC1 DNA meiotic recombinase 1
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DPPA3 developmental pluripotency associated 3
EDA ectodysplasin A
EGR1 early growth response 1
ELOVL5 ELOVL fatty acid elongase 5
EPHA1 EPH receptor A1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ETV5 ets variant 5
EWSR1 EWS RNA-binding protein 1
EXO1 exonuclease 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FADS2 fatty acid desaturase 2
FANCC Fanconi anemia, complementation group C
FANCL Fanconi anemia, complementation group L
FETUB fetuin B
FGA fibrinogen alpha chain
FGG fibrinogen gamma chain
FIGLA folliculogenesis specific basic helix-loop-helix
FKBP4 FK506 binding protein 4, 59kDa
FOXL2 forkhead box L2
FOXN1 forkhead box N1
FOXO3 forkhead box O3
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FZD1 frizzled class receptor 1
FZD4 frizzled class receptor 4
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GDF9 growth differentiation factor 9
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJA4 gap junction protein, alpha 4, 37kDa
GNRHR gonadotropin-releasing hormone receptor
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HK1 hexokinase 1
HMGA2 high mobility group AT-hook 2
HORMAD1 HORMA domain containing 1
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA13 homeobox A13
HR hair growth associated
HSF1 heat shock transcription factor 1
IGF2R insulin-like growth factor 2 receptor
IL11RA interleukin 11 receptor, alpha
IL6ST interleukin 6 signal transducer
INHA inhibin, alpha
INHBA inhibin, beta A
INSL3 insulin-like 3 (Leydig cell)
INSL5 insulin-like 5
IRS2 insulin receptor substrate 2
JAG2 jagged 2
KDM1B lysine (K)-specific demethylase 1B
KIAA0430 KIAA0430
KIF19 kinesin family member 19
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KMT2C lysine (K)-specific methyltransferase 2C
KPNA6 karyopherin alpha 6 (importin alpha 7)
KRT8 keratin 8, type II
LATS1 large tumor suppressor kinase 1
LBR lamin B receptor
LEP leptin
LEPR leptin receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LHFPL2 lipoma HMGIC fusion partner-like 2
LHX3 LIM homeobox 3
LHX9 LIM homeobox 9
LIF leukemia inhibitory factor
LMX1A LIM homeobox transcription factor 1, alpha
LPIN1 lipin 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MCM8 minichromosome maintenance complex component 8
MCM9 minichromosome maintenance complex component 9
MCPH1 microcephalin 1
MEI1 meiosis inhibitor 1
MEIOB meiosis specific with OB domains
MIR9-3 microRNA 9-3
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MOS v-mos Moloney murine sarcoma viral oncogene homolog
MPZ myelin protein zero
MSH4 mutS homolog 4
MSH5 mutS homolog 5
MTA2 metastasis associated 1 family, member 2
NANOS3 nanos homolog 3 (Drosophila)
NBN nibrin
NCOA6 nuclear receptor coactivator 6
NDC1 NDC1 transmembrane nucleoporin
NLRP5 NLR family, pyrin domain containing 5
NOBOX NOBOX oogenesis homeobox
NPC1 Niemann-Pick disease, type C1
NPR2 natriuretic peptide receptor 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRIP1 nuclear receptor interacting protein 1
NTF3 neurotrophin 3
OCA2 oculocutaneous albinism II
OOEP oocyte expressed protein
PABPC1L poly(A) binding protein, cytoplasmic 1-like
PADI6 peptidyl arginine deiminase, type VI
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX8 paired box 8
PCYT1B phosphate cytidylyltransferase 1, choline, beta
PDE3A phosphodiesterase 3A, cGMP-inhibited
PGR progesterone receptor
POR P450 (cytochrome) oxidoreductase
POSTN periostin, osteoblast specific factor
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRDM14 PR domain containing 14
PRDM9 PR domain containing 9
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRL prolactin
PRLR prolactin receptor
PROP1 PROP paired-like homeobox 1
PSEN1 presenilin 1
PTCH1 patched 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH2 parathyroid hormone 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTX3 pentraxin 3, long
RAD51C RAD51 paralog C
RANBP9 RAN binding protein 9
REC8 REC8 meiotic recombination protein
SAMD4A sterile alpha motif domain containing 4A
SCARB1 scavenger receptor class B, member 1
SGOL2 shugoshin-like 2 (S. pombe)
SGPL1 sphingosine-1-phosphate lyase 1
SH3PXD2B SH3 and PX domains 2B
SHARPIN SHANK-associated RH domain interactor
SIRT1 sirtuin 1
SMC1B structural maintenance of chromosomes 1B
SOD1 superoxide dismutase 1, soluble
SPATA22 spermatogenesis associated 22
SPO11 SPO11 meiotic protein covalently bound to DSB
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SRY sex determining region Y
STK36 serine/threonine kinase 36
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
TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
TBPL2 TATA box binding protein like 2
TCF3 transcription factor 3
TEX12 testis expressed 12
TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1
TMPRSS6 transmembrane protease, serine 6
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TP73 tumor protein p73
TRAF3IP2 TRAF3 interacting protein 2
TSHR thyroid stimulating hormone receptor
TTPA tocopherol (alpha) transfer protein
UBB ubiquitin B
UBE2A ubiquitin-conjugating enzyme E2A
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VANGL2 VANGL planar cell polarity protein 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VRK1 vaccinia related kinase 1
VSX2 visual system homeobox 2
WNT7A wingless-type MMTV integration site family, member 7A
YBX2 Y box binding protein 2
ZAR1 zygote arrest 1
ZEB1 zinc finger E-box binding homeobox 1
ZFP36L2 ZFP36 ring finger protein-like 2
ZGLP1 zinc finger, GATA-like protein 1
ZP2 zona pellucida glycoprotein 2 (sperm receptor)
ZP3 zona pellucida glycoprotein 3 (sperm receptor)