Rett syndrome (Homo sapiens)

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4619162726232128122571518911781616242314221011813205NCoR complex16TBL1XR1CHD4HIVEP2KCNQ2SMARCA1TCF4NCOR2HAP1CRKEIF2B2JARID1BHDAC5TRRAPSRRM3GPS2STXBP1SMARCA2IMPDH2SMARCA4CDKL5MEF2CTCF4GNAO1GABRDGRIN2AGABBR2RHOBTB2HDAC8SCN8AXAB2SYNGAP1NCOR1SATB2GRIN2BMECP2BRAFHDAC1KCNJ10CECR2FOXG1TBL1XGABRA3SYNE2TAF1BSHANK3HTTSCN2AEIF2B2SCN1ASMC1AACTL6B


Description

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.

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Bibliography

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  1. Kearney JA, Yang Y, Beyer B, Bergren SK, Claes L, Dejonghe P, Frankel WN; ''Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.''; Hum Mol Genet, 2006 PubMed Europe PMC Scholia
  2. Banting GS, Barak O, Ames TM, Burnham AC, Kardel MD, Cooch NS, Davidson CE, Godbout R, McDermid HE, Shiekhattar R; ''CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L.''; Hum Mol Genet, 2005 PubMed Europe PMC Scholia
  3. Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M; ''Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex.''; Biochem Biophys Res Commun, 2002 PubMed Europe PMC Scholia
  4. Grainger RJ, Barrass JD, Jacquier A, Rain JC, Beggs JD; ''Physical and genetic interactions of yeast Cwc21p, an ortholog of human SRm300/SRRM2, suggest a role at the catalytic center of the spliceosome.''; RNA, 2009 PubMed Europe PMC Scholia
  5. Gyorgy AB, Szemes M, de Juan Romero C, Tarabykin V, Agoston DV; ''SATB2 interacts with chromatin-remodeling molecules in differentiating cortical neurons.''; Eur J Neurosci, 2008 PubMed Europe PMC Scholia
  6. Kyle SM, Saha PK, Brown HM, Chan LC, Justice MJ; ''MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
  7. Li J, Wilkinson B, Clementel VA, Hou J, O'Dell TJ, Coba MP; ''Long-term potentiation modulates synaptic phosphorylation networks and reshapes the structure of the postsynaptic interactome.''; Sci Signal, 2016 PubMed Europe PMC Scholia
  8. Havugimana PC, Hart GT, Nepusz T, Yang H, Turinsky AL, Li Z, Wang PI, Boutz DR, Fong V, Phanse S, Babu M, Craig SA, Hu P, Wan C, Vlasblom J, Dar VU, Bezginov A, Clark GW, Wu GC, Wodak SJ, Tillier ER, Paccanaro A, Marcotte EM, Emili A; ''A census of human soluble protein complexes.''; Cell, 2012 PubMed Europe PMC Scholia
  9. Potts RC, Zhang P, Wurster AL, Precht P, Mughal MR, Wood WH 3rd, Zhang Y, Becker KG, Mattson MP, Pazin MJ; ''CHD5, a brain-specific paralog of Mi2 chromatin remodeling enzymes, regulates expression of neuronal genes.''; PLoS One, 2011 PubMed Europe PMC Scholia
  10. Jacob FD, Ramaswamy V, Andersen J, Bolduc FV; ''Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.''; Eur J Hum Genet, 2009 PubMed Europe PMC Scholia
  11. Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A; ''Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex.''; Nature, 1998 PubMed Europe PMC Scholia
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  14. Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S; ''Loss-of-function variants in HIVEP2 are a cause of intellectual disability.''; Eur J Hum Genet, 2016 PubMed Europe PMC Scholia
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  19. A Côté-Biron, J Raisch, N Rivard; ''A249 Role of LRP6 in KRAS and BRAF mutated colorectal cancer''; https://doi.org/10.1093/jcag/gwy009.249, 2018 DOI Scholia
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History

View all...
CompareRevisionActionTimeUserComment
134292view05:54, 20 July 2024EgonwRemoved template comments
128465view21:53, 4 February 2024EweitzModified title
123518view20:14, 31 July 2022EgonwMoved KEGG pathway identifiers to the comment as they are not reaction identifiers
119230view18:54, 22 June 2021Finterlyadded DOI information
104287view12:47, 15 May 2019FehrhartOntology Term : 'neuron' added !
101964view11:00, 21 November 2018DeSlAdded ID for last wrong interaction drawing as a comment (for easy fixing later on).
101963view10:53, 21 November 2018DeSlFixed one before last wrong interaction link (keeping one for new Jenkins Test).
101962view10:51, 21 November 2018DeSlChanged more names of PWs on interactions to corresponding ID; added name to comments.
101958view10:42, 21 November 2018DeSlAdded name of "Viral carcinogenesis" to interaction as comment.
101957view10:30, 21 November 2018DeSlChanged Viral carcinogenesis pathway to ID from KEGG.
98050view05:39, 13 July 2018Fehrhartfixed unconnected line
98028view10:03, 4 July 2018FehrhartModified description
98026view09:33, 4 July 2018DeSlChanged Ref. layout
98024view09:25, 4 July 2018DeSlChanged Ref. layout
98023view09:23, 4 July 2018DeSlChanged Ref. layout
98022view09:22, 4 July 2018FehrhartModified description
98021view09:22, 4 July 2018FehrhartModified description
98020view09:21, 4 July 2018FehrhartModified description
98019view09:06, 4 July 2018DeSlChanges layout (again).
98018view09:05, 4 July 2018DeSlMore layout changes, every single line should be visible now in terms of connectivity
98017view09:02, 4 July 2018DeSlChanged layout some more
98016view09:00, 4 July 2018DeSlChanged layout, how lines are connected etc.
98015view08:52, 4 July 2018DeSlFound Gene ID in left bottom corner, which screwed up visualisation
98009view08:13, 3 July 2018FehrhartModified description
98008view08:11, 3 July 2018Fehrhartaesthetics
97973view09:16, 28 June 2018Fehrhartsome aesthetic details
97972view09:12, 28 June 2018FehrhartModified title
97971view07:25, 28 June 2018FehrhartOntology Term : 'disease pathway' added !
97970view07:24, 28 June 2018FehrhartOntology Term : 'Rett syndrome' added !
97969view07:24, 28 June 2018FehrhartModified title
97892view11:05, 20 June 2018MaxvansonErased some unnecessary genes that were not present in the pathway
97891view10:12, 20 June 2018MaxvansonNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ACTL6BGeneProductENSG00000077080 (Ensembl)
BRAFGeneProductENSG00000157764 (Ensembl)
CDKL5 GeneProductENSG00000008086 (Ensembl)
CECR2GeneProductENSG00000099954 (Ensembl)
CHD4GeneProductENSG00000111642 (Ensembl)
CRKGeneProductENSG00000167193 (Ensembl)
EIF2B2GeneProductENSG00000119718 (Ensembl)
FOXG1 GeneProductENSG00000176165 (Ensembl)
GABBR2GeneProductENSG00000136928 (Ensembl)
GABRA3GeneProductENSG00000011677 (Ensembl)
GABRDGeneProductENSG00000187730 (Ensembl)
GNAO1GeneProductENSG00000087258 (Ensembl)
GPS2GeneProductENSG00000132522 (Ensembl)
GRIN2AGeneProductENSG00000183454 (Ensembl)
GRIN2BGeneProductENSG00000273079 (Ensembl)
HAP1GeneProductENSG00000173805 (Ensembl)
HDAC1GeneProductENSG00000116478 (Ensembl)
HDAC5GeneProductENSG00000108840 (Ensembl)
HDAC8GeneProductENSG00000147099 (Ensembl)
HIVEP2GeneProductENSG00000010818 (Ensembl) Type your comment here
HTTGeneProductENSG00000197386 (Ensembl)
IMPDH2GeneProductENSG00000178035 (Ensembl)
JARID1B GeneProductENSG00000117139 (Ensembl)
KCNJ10GeneProductENSG00000177807 (Ensembl)
KCNQ2GeneProductENSG00000281151 (Ensembl)
MECP2 GeneProductENSG00000169057 (Ensembl)
MEF2CGeneProductENSG00000081189 (Ensembl)
NCOR1GeneProductENSG00000141027 (Ensembl)
NCOR2GeneProductENSG00000196498 (Ensembl)
RHOBTB2GeneProductENSG00000008853 (Ensembl)
SATB2GeneProductENSG00000119042 (Ensembl)
SCN1AGeneProductENSG00000144285 (Ensembl)
SCN2AGeneProductENSG00000136531 (Ensembl)
SCN8AGeneProductENSG00000196876 (Ensembl)
SHANK3GeneProductENSG00000251322 (Ensembl)
SMARCA1GeneProductENSG00000102038 (Ensembl)
SMARCA2 GeneProductENSG00000080503 (Ensembl)
SMARCA4 GeneProductENSG00000127616 (Ensembl)
SMC1AGeneProductENSG00000072501 (Ensembl)
SRRM3GeneProductENSG00000177679 (Ensembl)
STXBP1GeneProductENSG00000136854 (Ensembl)
SYNE2GeneProductENSG00000054654 (Ensembl)
SYNGAP1GeneProductENSG00000197283 (Ensembl)
TAF1BGeneProductENSG00000115750 (Ensembl)
TBL1XGeneProductENSG00000101849 (Ensembl)
TBL1XR1GeneProductENSG00000177565 (Ensembl)
TCF4GeneProductENSG00000196628 (Ensembl)
TRRAPGeneProductENSG00000196367 (Ensembl)
XAB2GeneProductENSG00000076924 (Ensembl)

Annotated Interactions

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SourceTargetTypeDatabase referenceComment
CRKBRAFmim-gapNeurotrophin signaling pathway (KEGG Pathway)
GABRDGABRA3mim-bindingmap05033 (KEGG Pathway) Nicotine addiction
GNAO1GABBR2mim-stimulationmap04727 (KEGG Pathway) GABAergic Synapse
GNAO1mim-inhibitionmap04728 (KEGG Pathway) Dopaminergic Synapse
GRIN2BGRIN2Amim-bindingmap05034 (KEGG Pathway) Alcoholism
HAP1GABRA3mim-bindingmap04727 (KEGG Pathway) GABAergic synapse
HAP1GABRDmim-bindingmap04727 (KEGG Pathway) GABAergic synapse
HDAC5mim-stimulationmap05203 (KEGG Pathway) Viral carcinogenesis
HDAC8HDAC5mim-bindingmap05034 (KEGG Pathway) Alcoholism
HTTGRIN2Bmim-cleavagemap05016 (KEGG Pathway) Huntington Disease
KCNJ10GABBR2mim-stimulationR-HSA-1013011 (Reactome) GABA B receptor G-protein beta-gamma and Kir3 channel complex
SYNE2SMC1Amim-gapR-HSA-1221632 (Reactome) Meiotic synapsis pathway
TAF1BCHD4mim-stimulationR-HSA-427359 (Reactome) SIRT1 negatively regulates rRNA expression
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