7q11.23 distal copy number variation (Homo sapiens)

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Bibliography

1. Almeida-Souza L, Goethals S, de Winter V, Dierick I, Gallardo R, Van Durme J, Irobi J, Gettemans J, Rousseau F, Schymkowitz J, Timmerman V, Janssens S; ''Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
2. Barr JE, Munyikwa MR, Frazier EA, Hinton SD; ''The pseudophosphatase MK-STYX inhibits stress granule assembly independently of Ser149 phosphorylation of G3BP-1.''; FEBS J, 2013 PubMed Europe PMC Scholia
3. Niemi NM, Lanning NJ, Klomp JA, Tait SW, Xu Y, Dykema KJ, Murphy LO, Gaither LA, Xu HE, Furge KA, Green DR, MacKeigan JP; ''MK-STYX, a catalytically inactive phosphatase regulating mitochondrially dependent apoptosis.''; Mol Cell Biol, 2011 PubMed Europe PMC Scholia
4. Batrakou DG, de Las Heras JI, Czapiewski R, Mouras R, Schirmer EC; ''TMEM120A and B: Nuclear Envelope Transmembrane Proteins Important for Adipocyte Differentiation.''; PLoS One, 2015 PubMed Europe PMC Scholia
5. Hinton SD, Myers MP, Roggero VR, Allison LA, Tonks NK; ''The pseudophosphatase MK-STYX interacts with G3BP and decreases stress granule formation.''; Biochem J, 2010 PubMed Europe PMC Scholia
6. Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V; ''Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
7. Yu T, Robb VA, Singh V, Gutmann DH, Newsham IF; ''The 4.1/ezrin/radixin/moesin domain of the DAL-1/Protein 4.1B tumour suppressor interacts with 14-3-3 proteins.''; Biochem J, 2002 PubMed Europe PMC Scholia
8. Autieri MV, Carbone CJ; ''14-3-3Gamma interacts with and is phosphorylated by multiple protein kinase C isoforms in PDGF-stimulated human vascular smooth muscle cells.''; DNA Cell Biol, 1999 PubMed Europe PMC Scholia
9. Rogalla T, Ehrnsperger M, Preville X, Kotlyarov A, Lutsch G, Ducasse C, Paul C, Wieske M, Arrigo AP, Buchner J, Gaestel M; ''Regulation of Hsp27 oligomerization, chaperone function, and protective activity against oxidative stress/tumor necrosis factor alpha by phosphorylation.''; J Biol Chem, 1999 PubMed Europe PMC Scholia
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History

External references

DataNodes

Name	Type	Database reference	Comment
(S)-malate	Metabolite	15589 (ChEBI)
Apoptosis	Pathway	WP254 (WikiPathways)
DAPK2	GeneProduct	ENSG00000035664 (Ensembl)
EPB41L3	GeneProduct	ENSG00000082397 (Ensembl)
G3BP1	GeneProduct	ENSG00000145907 (Ensembl)
HSPB1	GeneProduct	ENSG00000106211 (Ensembl)
KIF1C	GeneProduct	ENSG00000129250 (Ensembl)
LMNA	GeneProduct	ENSG00000160789 (Ensembl)
MDH2	GeneProduct	ENSG00000146701 (Ensembl)
MIR4651	GeneProduct	ENSG00000265020 (Ensembl)
NAD+	Metabolite	57540 (ChEBI)
NADH	Metabolite	57945 (ChEBI)
NADP+	Metabolite	58349 (ChEBI)
NADPH	Metabolite	57783 (ChEBI)
Oxaloacetate	Metabolite	16452 (ChEBI)
POR	GeneProduct	ENSG00000127948 (Ensembl)
PTPMT1	GeneProduct	ENSG00000110536 (Ensembl)
RAF1	GeneProduct	ENSG00000132155 (Ensembl)
RHBDD2	GeneProduct	ENSG00000005486 (Ensembl)
SFN	GeneProduct	ENSG00000175793 (Ensembl)
SNORA14A	GeneProduct	ENSG00000201643 (Ensembl)
SRCRB4D	GeneProduct	ENSG00000146700 (Ensembl)
SRRM3	GeneProduct	ENSG00000177679 (Ensembl)
STYXL1	GeneProduct	ENSG00000127952 (Ensembl)
TMEM120A	GeneProduct	ENSG00000189077 (Ensembl)
TMEM120B	GeneProduct	ENSG00000188735 (Ensembl)
YWHAG	GeneProduct	ENSG00000170027 (Ensembl)	14-3-3 protein gamma
ZP1	GeneProduct	ENSG00000149506 (Ensembl)
ZP2	GeneProduct	ENSG00000103310 (Ensembl)
ZP3	GeneProduct	ENSG00000188372 (Ensembl)
oxidized [cytochrome P450]	Metabolite	55376 (ChEBI)
reduced [cytochrome P450]	Metabolite	60344 (ChEBI)

Annotated Interactions

Source	Target	Type	Database reference	Comment
(S)-malate	Oxaloacetate	mim-conversion	21432 (Rhea)
MDH2		mim-catalysis	21432 (Rhea)
NAD+	NADH	mim-conversion	21432 (Rhea)
POR		mim-catalysis	24040 (Rhea)