16p11.2 distal deletion syndrome (Homo sapiens)

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349711682531, 1251012function suspected in mitochondriainvolved in disease syndromes, such as sensorineural deafness, diabetes, and retinopathyCytosolChromosome 16:28,740,000 - 28,950,000 bpRNA geneunknown functionnuclear core interactingvariants associated with Crohns diseaseInflammatory bowel diseaseIntelligencetranslocationunknown functionNPIPB9Insulin signalingGrowth hormone signalingATP2A1-AS1IFITM1INSRMPLRABEP2ATPGRB2ADPRABGEF1Hedgehog signaling pathwaySH2B1RAB5AATXN2LPrimary cilium developmentPLNJAK2hsa-mir-4721CR2RAB4ASLNC3VEGF signalingB Cell Receptor signaling pathwayCa2+CD19GRB2CD81TUFMKDRSDCCAG8CD82VAV2ATP2A1CD19/CD21 complex7CD19RABEP2566Ca2+endoplasmatic orsarcoplasmaticreticulum


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


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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


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NameTypeDatabase referenceComment
ADPMetaboliteCHEBI:16761 (ChEBI)
ATP2A1-AS1GeneProductENSG00000260442 (Ensembl)
ATP2A1GeneProductENSG00000196296 (Ensembl)
ATPMetaboliteCHEBI:15422 (ChEBI)
ATXN2LGeneProductENSG00000168488 (Ensembl)
B Cell Receptor signaling pathwayPathwayWP23 (WikiPathways)
C3GeneProductENSG00000125730 (Ensembl)
CD19/CD21 complexComplex
CD19GeneProductENSG00000177455 (Ensembl)
CD81GeneProductENSG00000110651 (Ensembl) also known as TAPA-1 or Tspan-28
CD82GeneProductENSG00000085117 (Ensembl)
CR2GeneProductENSG00000117322 (Ensembl) also known as CD21
Ca2+MetaboliteCHEBI:29108 (ChEBI)
GRB2GeneProductENSG00000177885 (Ensembl)
Growth hormone signalingPathwayWP2657 (WikiPathways)
Hedgehog signaling pathwayPathwayWP4249 (WikiPathways)
IFITM1GeneProductENSG00000185885 (Ensembl) also known as CD225
INSRGeneProductENSG00000171105 (Ensembl)
Insulin signalingPathwayWP481 (WikiPathways)
JAK2GeneProductENSG00000096968 (Ensembl)
KDRGeneProductENSG00000128052 (Ensembl) VEGFR2
MPLGeneProductENSG00000117400 (Ensembl)
NPIPB9GeneProductENSG00000196993 (Ensembl)
PLNGeneProductENSG00000198523 (Ensembl)
Primary cilium developmentPathwayWP4536 (WikiPathways)
RAB4AGeneProductENSG00000168118 (Ensembl)
RAB5AGeneProductENSG00000144566 (Ensembl)
RABEP2GeneProductENSG00000177548 (Ensembl)
RABGEF1GeneProductENSG00000154710 (Ensembl)
SDCCAG8GeneProductENSG00000054282 (Ensembl)
SH2B1GeneProductENSG00000178188 (Ensembl)
SLNGeneProductENSG00000170290 (Ensembl)
TUFMGeneProductENSG00000178952 (Ensembl)
VAV2GeneProductENSG00000160293 (Ensembl)
VEGF signalingPathwayWP1919 (WikiPathways)
hsa-mir-4721GeneProductMI0017356 (miRBase Sequence)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
ATP2A1mim-catalysis18105 (Rhea)
ATPADPmim-conversion18105 (Rhea)
Ca2+Ca2+Arrow18105 (Rhea)
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