Rett syndrome (WP4312)

Homo sapiens

Protein - protein interaction between genes that are associated with Rett syndrome like phenotype according to the paper Ehrhart et al. 2018 "current developments in the genetics of Rett and Rett-like syndrome" Curr. Psy.

Authors

Max Van Son , Friederike Ehrhart , Denise Slenter , Finterly Hu , Egon Willighagen , and Eric Weitz

Activity

last edited

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

Rett syndrome

Cell Type Ontology

neuron

Participants

Label Type Compact URI Comment
EIF2B2 GeneProduct ensembl:ENSG00000119718
MECP2 GeneProduct ensembl:ENSG00000169057
TAF1B GeneProduct ensembl:ENSG00000115750
GABRA3 GeneProduct ensembl:ENSG00000011677
NCOR1 GeneProduct ensembl:ENSG00000141027
SMARCA2 GeneProduct ensembl:ENSG00000080503
MEF2C GeneProduct ensembl:ENSG00000081189
HAP1 GeneProduct ensembl:ENSG00000173805
FOXG1 GeneProduct ensembl:ENSG00000176165
SCN2A GeneProduct ensembl:ENSG00000136531
SATB2 GeneProduct ensembl:ENSG00000119042
TBL1X GeneProduct ensembl:ENSG00000101849
GNAO1 GeneProduct ensembl:ENSG00000087258
SCN1A GeneProduct ensembl:ENSG00000144285
SRRM3 GeneProduct ensembl:ENSG00000177679
HDAC5 GeneProduct ensembl:ENSG00000108840
GABBR2 GeneProduct ensembl:ENSG00000136928
SCN8A GeneProduct ensembl:ENSG00000196876
JARID1B GeneProduct ensembl:ENSG00000117139
CHD4 GeneProduct ensembl:ENSG00000111642
SMC1A GeneProduct ensembl:ENSG00000072501
GRIN2B GeneProduct ensembl:ENSG00000273079
TCF4 GeneProduct ensembl:ENSG00000196628
HDAC8 GeneProduct ensembl:ENSG00000147099
CDKL5 GeneProduct ensembl:ENSG00000008086
SYNGAP1 GeneProduct ensembl:ENSG00000197283
GABRD GeneProduct ensembl:ENSG00000187730
SHANK3 GeneProduct ensembl:ENSG00000251322
SYNE2 GeneProduct ensembl:ENSG00000054654
HDAC1 GeneProduct ensembl:ENSG00000116478
CECR2 GeneProduct ensembl:ENSG00000099954
BRAF GeneProduct ensembl:ENSG00000157764
GPS2 GeneProduct ensembl:ENSG00000132522
HTT GeneProduct ensembl:ENSG00000197386
SMARCA1 GeneProduct ensembl:ENSG00000102038
ACTL6B GeneProduct ensembl:ENSG00000077080
IMPDH2 GeneProduct ensembl:ENSG00000178035
STXBP1 GeneProduct ensembl:ENSG00000136854
TBL1XR1 GeneProduct ensembl:ENSG00000177565
HIVEP2 GeneProduct ensembl:ENSG00000010818
SMARCA4 GeneProduct ensembl:ENSG00000127616
NCOR2 GeneProduct ensembl:ENSG00000196498
KCNJ10 GeneProduct ensembl:ENSG00000177807
GRIN2A GeneProduct ensembl:ENSG00000183454
XAB2 GeneProduct ensembl:ENSG00000076924
TRRAP GeneProduct ensembl:ENSG00000196367
KCNQ2 GeneProduct ensembl:ENSG00000281151
RHOBTB2 GeneProduct ensembl:ENSG00000008853
CRK GeneProduct ensembl:ENSG00000167193

References

  1. A249 ROLE OF LRP6 IN KRAS AND BRAF MUTATED COLORECTAL CANCER. Côté-Biron A, raisch j, Rivard N. Journal of the Canadian Association of Gastroenterology [Internet]. 2018 Feb;1(suppl_2):363–363. Available from: http://dx.doi.org/10.1093/jcag/gwy009.249 DOI Scholia
  2. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, et al. Nature. 1998 May 28;393(6683):386–9. PubMed Europe PMC Scholia
  3. NURD, a novel complex with both ATP-dependent chromatin-remodeling and histone deacetylase activities. Xue Y, Wong J, Moreno GT, Young MK, Côté J, Wang W. Mol Cell. 1998 Dec;2(6):851–61. PubMed Europe PMC Scholia
  4. The essential cofactor TRRAP recruits the histone acetyltransferase hGCN5 to c-Myc. McMahon SB, Wood MA, Cole MD. Mol Cell Biol. 2000 Jan;20(2):556–62. PubMed Europe PMC Scholia
  5. The winged-helix protein brain factor 1 interacts with groucho and hes proteins to repress transcription. Yao J, Lai E, Stifani S. Mol Cell Biol. 2001 Mar;21(6):1962–72. PubMed Europe PMC Scholia
  6. Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex. Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M. Biochem Biophys Res Commun. 2002 Nov 29;299(2):328–34. PubMed Europe PMC Scholia
  7. A signaling role of histone-binding proteins and INHAT subunits pp32 and Set/TAF-Ibeta in integrating chromatin hypoacetylation and transcriptional repression. Kutney SN, Hong R, Macfarlan T, Chakravarti D. J Biol Chem. 2004 Jul 16;279(29):30850–5. PubMed Europe PMC Scholia
  8. CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. Banting GS, Barak O, Ames TM, Burnham AC, Kardel MD, Cooch NS, et al. Hum Mol Genet. 2005 Feb 15;14(4):513–24. PubMed Europe PMC Scholia
  9. PARG1, a protein-tyrosine phosphatase-associated RhoGAP, as a putative Rap2 effector. Myagmar BE, Umikawa M, Asato T, Taira K, Oshiro M, Hino A, et al. Biochem Biophys Res Commun. 2005 Apr 15;329(3):1046–52. PubMed Europe PMC Scholia
  10. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, et al. Hum Mol Genet. 2005 Jul 15;14(14):1935–46. PubMed Europe PMC Scholia
  11. Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. Kearney JA, Yang Y, Beyer B, Bergren SK, Claes L, Dejonghe P, et al. Hum Mol Genet. 2006 Mar 15;15(6):1043–8. PubMed Europe PMC Scholia
  12. Huntingtin interacting proteins are genetic modifiers of neurodegeneration. Kaltenbach LS, Romero E, Becklin RR, Chettier R, Bell R, Phansalkar A, et al. PLoS Genet. 2007 May 11;3(5):e82. PubMed Europe PMC Scholia
  13. SATB2 interacts with chromatin-remodeling molecules in differentiating cortical neurons. Gyorgy AB, Szemes M, de Juan Romero C, Tarabykin V, Agoston DV. Eur J Neurosci. 2008 Feb;27(4):865–73. PubMed Europe PMC Scholia
  14. Huntingtin associated protein 1 and its functions. Wu LL yan, Zhou XF. Cell Adh Migr. 2009;3(1):71–6. PubMed Europe PMC Scholia
  15. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Jacob FD, Ramaswamy V, Andersen J, Bolduc FV. Eur J Hum Genet. 2009 Dec;17(12):1577–81. PubMed Europe PMC Scholia
  16. Physical and genetic interactions of yeast Cwc21p, an ortholog of human SRm300/SRRM2, suggest a role at the catalytic center of the spliceosome. Grainger RJ, Barrass JD, Jacquier A, Rain JC, Beggs JD. RNA. 2009 Dec;15(12):2161–73. PubMed Europe PMC Scholia
  17. CHD5, a brain-specific paralog of Mi2 chromatin remodeling enzymes, regulates expression of neuronal genes. Potts RC, Zhang P, Wurster AL, Precht P, Mughal MR, Wood WH 3rd, et al. PLoS One. 2011;6(9):e24515. PubMed Europe PMC Scholia
  18. Sodium channels and the neurobiology of epilepsy. Oliva M, Berkovic SF, Petrou S. Epilepsia. 2012 Nov;53(11):1849–59. PubMed Europe PMC Scholia
  19. A census of human soluble protein complexes. Havugimana PC, Hart GT, Nepusz T, Yang H, Turinsky AL, Li Z, et al. Cell. 2012 Aug 31;150(5):1068–81. PubMed Europe PMC Scholia
  20. The functional interactome landscape of the human histone deacetylase family. Joshi P, Greco TM, Guise AJ, Luo Y, Yu F, Nesvizhskii AI, et al. Mol Syst Biol. 2013;9:672. PubMed Europe PMC Scholia
  21. Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation. Forrest MP, Waite AJ, Martin-Rendon E, Blake DJ. PLoS One. 2013 Aug 23;8(8):e73169. PubMed Europe PMC Scholia
  22. Identification of two novel Shank3 transcripts in the developing mouse neocortex. Waga C, Asano H, Sanagi T, Suzuki E, Nakamura Y, Tsuchiya A, et al. J Neurochem. 2014 Jan;128(2):280–93. PubMed Europe PMC Scholia
  23. Dysregulation of the IGF-I/PI3K/AKT/mTOR signaling pathway in autism spectrum disorders. Chen J, Alberts I, Li X. Int J Dev Neurosci. 2014 Jun;35:35–41. PubMed Europe PMC Scholia
  24. Probing phosphorylation-dependent protein interactions within functional domains of histone deacetylase 5 (HDAC5). Guise AJ, Mathias RA, Rowland EA, Yu F, Cristea IM. Proteomics. 2014 Oct;14(19):2156–66. PubMed Europe PMC Scholia
  25. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, et al. Eur J Hum Genet. 2016 Apr;24(4):556–61. PubMed Europe PMC Scholia
  26. MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex. Kyle SM, Saha PK, Brown HM, Chan LC, Justice MJ. Hum Mol Genet. 2016 Jul 15;25(14):3029–41. PubMed Europe PMC Scholia
  27. Long-term potentiation modulates synaptic phosphorylation networks and reshapes the structure of the postsynaptic interactome. Li J, Wilkinson B, Clementel VA, Hou J, O’Dell TJ, Coba MP. Sci Signal. 2016 Aug 9;9(440):rs8. PubMed Europe PMC Scholia
  28. Correlations between TBL1XR1 and recurrence of colorectal cancer. Liu H, Xu Y, Zhang Q, Li K, Wang D, Li S, et al. Sci Rep. 2017 Mar 15;7:44275. PubMed Europe PMC Scholia