16p11.2 distal deletion syndrome (Homo sapiens)
From WikiPathways
Description
16p11.2 distal deletion syndrome is a rare genetic disorder (copy number variation) caused by a deletion on chromosome 16 in the range 28.74-28.95-Mb. The breakpoints in this pathway are chr16:28,823,196-29,046,783 (GHCh37) from Kendall et al. 2017 http://dx.doi.org/10.1016/j.biopsych.2016.08.014.
Quality Tags
Ontology Terms
Bibliography
View all... |
- Wang K, Wei G, Liu D; ''CD19: a biomarker for B cell development, lymphoma diagnosis and therapy.''; Exp Hematol Oncol, 2012 PubMed Europe PMC Scholia
- Doody GM, Billadeau DD, Clayton E, Hutchings A, Berland R, McAdam S, Leibson PJ, Turner M; ''Vav-2 controls NFAT-dependent transcription in B- but not T-lymphocytes.''; EMBO J, 2000 PubMed Europe PMC Scholia
- Asahi M, Sugita Y, Kurzydlowski K, De Leon S, Tada M, Toyoshima C, MacLennan DH; ''Sarcolipin regulates sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban.''; Proc Natl Acad Sci U S A, 2003 PubMed Europe PMC Scholia
- Shah ZH, Migliosi V, Miller SC, Wang A, Friedman TB, Jacobs HT; ''Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus.''; Genomics, 1998 PubMed Europe PMC Scholia
- Kotani K, Wilden P, Pillay TS; ''SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase.''; Biochem J, 1998 PubMed Europe PMC Scholia
- Airik R, Schueler M, Airik M, Cho J, Ulanowicz KA, Porath JD, Hurd TW, Bekker-Jensen S, Schrøder JM, Andersen JS, Hildebrandt F; ''SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.''; PLoS One, 2016 PubMed Europe PMC Scholia
- Meunier C, Bordereaux D, Porteu F, Gisselbrecht S, Chrétien S, Courtois G; ''Cloning and characterization of a family of proteins associated with Mpl.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
- Rui L, Mathews LS, Hotta K, Gustafson TA, Carter-Su C; ''Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling.''; Mol Cell Biol, 1997 PubMed Europe PMC Scholia
- Kofler N, Corti F, Rivera-Molina F, Deng Y, Toomre D, Simons M; ''The Rab-effector protein RABEP2 regulates endosomal trafficking to mediate vascular endothelial growth factor receptor-2 (VEGFR2)-dependent signaling.''; J Biol Chem, 2018 PubMed Europe PMC Scholia
- Bourguignon LY, Zhu H, Zhou B, Diedrich F, Singleton PA, Hung MC; ''Hyaluronan promotes CD44v3-Vav2 interaction with Grb2-p185(HER2) and induces Rac1 and Ras signaling during ovarian tumor cell migration and growth.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
- Asahi M, Kurzydlowski K, Tada M, MacLennan DH; ''Sarcolipin inhibits polymerization of phospholamban to induce superinhibition of sarco(endo)plasmic reticulum Ca2+-ATPases (SERCAs).''; J Biol Chem, 2002 PubMed Europe PMC Scholia
- Horváth G, Serru V, Clay D, Billard M, Boucheix C, Rubinstein E; ''CD19 is linked to the integrin-associated tetraspans CD9, CD81, and CD82.''; J Biol Chem, 1998 PubMed Europe PMC Scholia
History
View all... |
External references
DataNodes
View all... |
Annotated Interactions
Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
ATP2A1 | mim-catalysis | 18105 (Rhea) | ||
ATP | ADP | mim-conversion | 18105 (Rhea) | |
Ca2+ | Ca2+ | Arrow | 18105 (Rhea) |