16p11.2 distal deletion syndrome (Homo sapiens)
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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.
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Ontology Terms
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- 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
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- 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
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External references
DataNodes
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| Name | Type | Database reference | Comment |
|---|---|---|---|
| ATP2A1-AS1 | GeneProduct | ENSG00000260442 (Ensembl)  | |
| ATP2A1 | GeneProduct | ENSG00000196296 (Ensembl) | |
| ATXN2L | GeneProduct | ENSG00000168488 (Ensembl) | |
| CD19 | GeneProduct | ENSG00000177455 (Ensembl) | |
| MPL | GeneProduct | ENSG00000117400 (Ensembl) | |
| NPIPB9 | GeneProduct | ENSG00000196993 (Ensembl) | |
| RABEP2 | GeneProduct | ENSG00000177548 (Ensembl) | |
| SH2B1 | GeneProduct | ENSG00000178188 (Ensembl) | |
| TUFM | GeneProduct | ENSG00000178952 (Ensembl) | |
| hsa-mir-4721 | GeneProduct | MI0017356 (miRBase Sequence) |
Annotated Interactions
No annotated interactions
