Ovarian infertility (Homo sapiens)

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OoplasmNucleusGranulosa cellOocyteCytoplasmNucleusPGRCDKN1BVDRTF2DATMS6KGJA4CCND2CYP19A1TSC2MLH1CDK4NCOR1PRLRSMPD1EGR1ESR2CREB1mTORINHASMAD3GDF9NRIP1LHCGRFIGLARAD51SYNE2ZP3MSH5ZP3PTGER2DAZLFSHRZP2FMR1SMPD1BMPR1BFMR1CEBPBNR5A1GJA4DMC13245GDF922INHAAKTTSC215TSC1RAD5124PPP


Description

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 CPTAC Assay Portal

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Quality Tags

Ontology Terms

 

Bibliography

  1. Elzaiat M, Herman L, Legois B, Léger T, Todeschini AL, Veitia RA; ''High-throughput Exploration of the Network Dependent on AKT1 in Mouse Ovarian Granulosa Cells''; doi: 10.1074/mcp.RA119, 2019 PubMed Europe PMC Scholia
  2. Rehnitz J, Capp E, Messmer B, Nguyen XP, Germeyer A, Freis A, Dietrich JE, Hinderhofer K, Strowitzki T, Vogt PH; ''FMR1 and AKT/mTOR Signaling in Human Granulosa Cells: Functional Interaction and Impact on Ovarian Response''; DOI: 10.3390/jcm10173892, 2021 PubMed Europe PMC Scholia
  3. Rehnitz J, Capp E, Messmer B, Nguyen XP, Germeyer A, Freis A, Dietrich JE, Hinderhofer K, Strowitzki T, Vogt PH; ''FMR1 and AKT/mTOR Signaling in Human Granulosa Cells: Functional Interaction and Impact on Ovarian Response''; DOI: 10.3390/jcm10173892, 2021 PubMed Europe PMC Scholia
  4. Li D, Xu W, Wang X, Dang Y, Xu L, Lu G, Chan WY, Leung PCK, Zhao S, Qin Y; ''lncRNA DDGC participates in premature ovarian insufficiency through regulating RAD51 and WT1''; DOI: 10.1016/j.omtn.2021.10.015, 2021 PubMed Europe PMC Scholia
  5. Lin PH, Lin L, Li C, Kao PG, Tsai HW, Chen SN, Wen ZH, Wang P, Tsui KH; ''Combining Bioinformatics and Experiments to Identify CREB1 as a Key Regulator in Senescent Granulosa Cells''; DOI: 10.3390/diagnostics10050295, 2020 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
135014view11:55, 31 July 2024EweitzCenter cell type labels
135013view11:54, 31 July 2024EweitzRefine layering, economize layout
135012view11:50, 31 July 2024EweitzFix complex positions; remove obsolete, incorrect "Last modified" metadata
135011view11:48, 31 July 2024EweitzStandardize case, economize layout, refine layering
129429view08:41, 19 April 2024Fehrhartconnected unconnected lines, created complex for TSC2 and 1
129428view08:37, 19 April 2024Fehrhartadded more missing protein IDs
129427view08:33, 19 April 2024FehrhartCorrected database for FMR1 protein (Uniprot)
127999view02:55, 21 January 2024EweitzUpdate continuous line to fix catalysis interactions
127998view02:46, 21 January 2024EweitzRefine layout
127997view02:38, 21 January 2024EweitzStandardize font
126221view15:06, 16 April 2023EgonwLicense is CCZero
125295view17:21, 31 January 2023LarsgwFix references
124177view06:08, 24 September 2022EgonwPositive conversion (it's a phosphorylation) and marked both as GeneProduct
124173view12:48, 23 September 2022VanessaSousaGenes involved in Ovarian infertility
116553view12:51, 7 May 2021EweitzModified title
106570view21:15, 6 September 2019KhanspersModified description
105769view19:38, 15 August 2019KhanspersModified description
88253view14:28, 1 August 2016FehrhartOntology Term : 'urogenital disease pathway' added !
72115view23:04, 24 October 2013AlexanderPicoadded xref for FIG-ALPHA
71243view19:57, 16 October 2013MaintBotAutomated update of data sources
61681view21:45, 16 April 2013MaintBotremoved data source without identifer
61680view21:45, 16 April 2013MaintBotchanged data source swissprot to uniprot
54696view12:30, 7 December 2012AndraCorrected ID after RDF Tidy
45314view20:06, 7 October 2011Khanspersremoved old comment
45312view20:05, 7 October 2011KhanspersModified description
45311view20:04, 7 October 2011KhanspersOntology Term : 'infertility' added !
45310view20:04, 7 October 2011KhanspersOntology Term : 'granulosa cell' added !
45309view20:04, 7 October 2011KhanspersOntology Term : 'oocyte' added !
45020view18:38, 6 October 2011AlexanderPicoconnected lines
41052view23:16, 1 March 2011MaintBotRemoved redundant pathway information and comments
38776view23:58, 23 September 2010KhanspersChanged graphics
35762view00:08, 13 February 2010KhanspersMoved from Comments to Description
35761view00:07, 13 February 2010KhanspersModified description
34502view23:08, 16 December 2009KhanspersAdded connectors
32057view13:33, 14 August 2009MaintBotFixed group labels
20749view11:29, 14 November 2008MaintBot[[Pathway:Homo sapiens:Ovarian Infertility Genes]] moved to [[Pathway:WP34]]: Moved to stable identifier
13990view14:24, 20 May 2008Thomasgrouped genes
13028view11:07, 17 May 2008MaintBotSticky edges patch by Sjoerd
8312view13:46, 7 January 2008MaintBot[[Pathway:Human:Ovarian Infertility Genes]] moved to [[Pathway:Homo sapiens:Ovarian Infertility Genes]]: Renaming species
7774view16:16, 18 December 2007MaintBotfixed category names
7283view12:41, 4 November 2007MaintBotAdded categories to GPML
19528view22:18, 22 May 2007A.Hsuehgpml file for [[Human:Ovarian_Infertility_Genes]]
6359view22:18, 22 May 2007I.BenShlomogpml file for [[Human:Ovarian_Infertility_Genes]]

External references

DataNodes

View all...
NameTypeDatabase referenceComment
AKTGeneProductENSG00000142208 (Ensembl)
ATMGeneProduct472 (Entrez Gene)
BMPR1BGeneProduct658 (Entrez Gene)
CCND2GeneProduct894 (Entrez Gene)
CDK4GeneProduct1019 (Entrez Gene)
CDKN1BGeneProduct1027 (Entrez Gene)
CEBPBGeneProduct1051 (Entrez Gene)
CREB1GeneProductENSG00000118260 (Ensembl)
CYP19A1GeneProduct1588 (Entrez Gene)
DAZLGeneProduct1618 (Entrez Gene)
DMC1GeneProduct11144 (Entrez Gene)
EGR1GeneProduct1958 (Entrez Gene)
ESR2GeneProduct2100 (Entrez Gene)
FIGLAGeneProduct344018 (Entrez Gene)
FMR1GeneProductENSG00000102081 (Ensembl)
FMR1GeneProductQ06787 (Uniprot-TrEMBL)
FSHRGeneProduct2492 (Entrez Gene)
GDF9GeneProduct2661 (Entrez Gene)
GJA4GeneProduct2701 (Entrez Gene)
INHAGeneProduct3623 (Entrez Gene)
LHCGRGeneProduct3973 (Entrez Gene)
MLH1GeneProduct4292 (Entrez Gene)
MSH5GeneProduct4439 (Entrez Gene)
NCOR1GeneProduct9611 (Entrez Gene)
NR5A1GeneProduct2516 (Entrez Gene)
NRIP1GeneProduct8204 (Entrez Gene)
PGRGeneProduct5241 (Entrez Gene)
PRLRGeneProduct5618 (Entrez Gene)
PTGER2GeneProduct5732 (Entrez Gene)
RAD51GeneProductENSG00000051180 (Ensembl)
S6KProtein2008108A (NCBI Protein)
SMAD3GeneProduct4088 (Entrez Gene)
SMPD1GeneProduct6609 (Entrez Gene)
SYNE2GeneProduct23224 (Entrez Gene)
TF2DGeneProductP20226 (Uniprot-TrEMBL)
TSC1ProteinQ92574 (Uniprot-TrEMBL)
TSC2ProteinP49815 (Uniprot-TrEMBL)
VDRGeneProduct7421 (Entrez Gene)
ZP2GeneProduct7783 (Entrez Gene)
ZP3GeneProduct7784 (Entrez Gene)
mTORGeneProductENSG00000198793 (Ensembl)

Annotated Interactions

No annotated interactions

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