Ovarian infertility (WP34)

Homo sapiens

Ovarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility phenotypes. The individual gene pages in the OKdb (Ovarian Kaleidoscope Database: http://ovary.stanford.edu) contain information on associated fertility phenotypes sorted by ovarian and nonovarian defects and by subfertility or infertility. If one searches for null mutations (under mutation type) causing infertility (infertile - ovarian defect, under female fertility status) in mice (under species), 44 gene entries are found. The expression of these infertility genes in the oocyte and granulosa cells together with their cellular localization is presented in Ovarian Infertility gene map. The theca cell genes are not presented because most publications emphasize granulosa cell studies. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP34 CPTAC Assay Portal]


Izhar Ben-Shlomo , Thomas Kelder , Aaron Hsueh , Kristina Hanspers , Alex Pico , Andra Waagmeester , Friederike Ehrhart , Eric Weitz , Vanessa Sousa , Egon Willighagen , and Lars Willighagen


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Homo sapiens




Cell Type Ontology

oocyte granulosa cell

Pathway Ontology

urogenital disease pathway

Disease Ontology



Label Type Compact URI Comment
MLH1 GeneProduct ncbigene:4292
ZP3 GeneProduct ncbigene:7784
CDK4 GeneProduct ncbigene:1019
LHCGR GeneProduct ncbigene:3973
EGR1 GeneProduct ncbigene:1958
MSH5 GeneProduct ncbigene:4439
CYP19A1 GeneProduct ncbigene:1588
ZP3 GeneProduct ncbigene:7784
FSHR GeneProduct ncbigene:2492
GDF9 GeneProduct ncbigene:2661
ESR2 GeneProduct ncbigene:2100
TF2D GeneProduct uniprot:P20226
FIGLA GeneProduct ncbigene:344018
DAZL GeneProduct ncbigene:1618
CEBPB GeneProduct ncbigene:1051
RAD51 GeneProduct ensembl:ENSG00000051180
SMPD1 GeneProduct ncbigene:6609
SMPD1 GeneProduct ncbigene:6609
BMPR1B GeneProduct ncbigene:658
ATM GeneProduct ncbigene:472
PRLR GeneProduct ncbigene:5618
CREB1 GeneProduct ensembl:ENSG00000118260
SMAD3 GeneProduct ncbigene:4088
GJA4 GeneProduct ncbigene:2701
NRIP1 GeneProduct ncbigene:8204
GJA4 GeneProduct ncbigene:2701
VDR GeneProduct ncbigene:7421
CDKN1B GeneProduct ncbigene:1027
SYNE2 GeneProduct ncbigene:23224
mTOR GeneProduct ensembl:ENSG00000198793
DMC1 GeneProduct ncbigene:11144
INHA GeneProduct ncbigene:3623
CCND2 GeneProduct ncbigene:894
FMR1 GeneProduct ensembl:ENSG00000102081
ZP2 GeneProduct ncbigene:7783
NR5A1 GeneProduct ncbigene:2516
PGR GeneProduct ncbigene:5241
PTGER2 GeneProduct ncbigene:5732
FMR1 GeneProduct uniprot:Q06787
NCOR1 GeneProduct ncbigene:9611
GDF9 GeneProduct ncbigene:2661
INHA GeneProduct ncbigene:3623
AKT GeneProduct ensembl:ENSG00000142208
RAD51 GeneProduct ensembl:ENSG00000051180
TSC2 Protein uniprot:P49815
S6K Protein ncbiprotein:2008108A
TSC2 Protein uniprot:P49815
TSC1 Protein uniprot:Q92574


  1. High-throughput Exploration of the Network Dependent on AKT1 in Mouse Ovarian Granulosa Cells. Elzaiat M, Herman L, Legois B, Léger T, Todeschini AL, Veitia RA. Mol Cell Proteomics. 2019 Jul;18(7):1307–19. PubMed Europe PMC Scholia
  2. Combining Bioinformatics and Experiments to Identify CREB1 as a Key Regulator in Senescent Granulosa Cells. Lin PH, Lin LT, Li CJ, Kao PG, Tsai HW, Chen SN, et al. Diagnostics (Basel). 2020 May 11;10(5):295. PubMed Europe PMC Scholia
  3. FMR1 and AKT/mTOR Signaling in Human Granulosa Cells: Functional Interaction and Impact on Ovarian Response. Rehnitz J, Capp E, Messmer B, Nguyen XP, Germeyer A, Freis A, et al. J Clin Med. 2021 Aug 30;10(17):3892. PubMed Europe PMC Scholia
  4. lncRNA DDGC participates in premature ovarian insufficiency through regulating RAD51 and WT1. Li D, Xu W, Wang X, Dang Y, Xu L, Lu G, et al. Mol Ther Nucleic Acids. 2021 Oct 20;26:1092–106. PubMed Europe PMC Scholia