16p11.2 distal deletion syndrome (Homo sapiens)

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Chromosome 16:28,740,000 - 28,950,000 bpRNA geneSH2B1ATP2A1ATP2A1-AS1CD19hsa-mir-4721RABEP2TUFMATXN2LNPIPB9


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

 

Bibliography

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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

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CompareRevisionActionTimeUserComment
128400view03:41, 4 February 2024EweitzFix truncated nodes, straighten arrow, standardize case
124899view15:25, 29 December 2022EgonwModified description
115784view16:19, 11 March 2021Fehrhartupdate in progress
115780view15:26, 11 March 2021FehrhartModified description
115779view15:24, 11 March 2021Fehrhartupdate to GHRCh37
112224view07:18, 2 October 2020EgonwReplaced secondary ChEBI identifiers by primary IDs.
112184view09:34, 1 October 2020Fehrhartwork in progress
112178view09:22, 1 October 2020Fehrhartwork in progress
112125view08:54, 25 September 2020Fehrhartwork in progress
112124view08:05, 25 September 2020Fehrhartwork in progress
112090view15:52, 21 September 2020Fehrhartwork in progress
112089view15:41, 21 September 2020Fehrhartwork in progress
111260view15:35, 27 July 2020FehrhartOntology Term : 'genetic disease' added !
111259view15:35, 27 July 2020FehrhartOntology Term : 'disease pathway' added !
111258view15:35, 27 July 2020FehrhartOntology Term : 'chromosome 16p11.2 deletion syndrome, 220kb' added !
111254view15:33, 27 July 2020FehrhartModified description
111252view15:28, 27 July 2020FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ATP2A1-AS1GeneProductENSG00000260442 (Ensembl)
ATP2A1GeneProductENSG00000196296 (Ensembl)
ATXN2LGeneProductENSG00000168488 (Ensembl)
CD19GeneProductENSG00000177455 (Ensembl)
NPIPB9GeneProductENSG00000196993 (Ensembl)
RABEP2GeneProductENSG00000177548 (Ensembl)
SH2B1GeneProductENSG00000178188 (Ensembl)
TUFMGeneProductENSG00000178952 (Ensembl)
hsa-mir-4721GeneProductMI0017356 (miRBase Sequence)

Annotated Interactions

No annotated interactions

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