16p11.2 distal deletion syndrome (WP4950)
Homo sapiens
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 https://doi.org/10.1016/j.biopsych.2016.08.014.
Authors
Friederike Ehrhart , Egon Willighagen , and Eric WeitzActivity
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Cited In
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Pathway Ontology
disease pathwayDisease Ontology
chromosome 16p11.2 deletion syndrome genetic disease| Label | Type | Compact URI | Comment |
|---|---|---|---|
| sphingolipids | Metabolite | chebi:26739 | |
| ATP | Metabolite | chebi:15422 | |
| ADP | Metabolite | chebi:16761 | |
| Ca2+ | Metabolite | chebi:29108 | |
| hsa-mir-4721 | GeneProduct | mirbase:MI0017356 | |
| MIR4517 | GeneProduct | ensembl:ENSG00000266868 | |
| LAT | GeneProduct | ensembl:ENSG00000213658 | |
| TRAF1 | GeneProduct | ensembl:ENSG00000056558 | |
| VAV2 | GeneProduct | ensembl:ENSG00000160293 | |
| CD81 | GeneProduct | ensembl:ENSG00000110651 | also known as TAPA-1 or Tspan-28 |
| CD82 | GeneProduct | ensembl:ENSG00000085117 | |
| KDR | GeneProduct | ensembl:ENSG00000128052 | VEGFR2 |
| NFATC2IP | GeneProduct | ensembl:ENSG00000176953 | |
| SH2B1 | GeneProduct | ensembl:ENSG00000178188 | |
| CD19 | GeneProduct | ensembl:ENSG00000177455 | |
| IFITM1 | GeneProduct | ensembl:ENSG00000185885 | also known as CD225 |
| RAB5A | GeneProduct | ensembl:ENSG00000144566 | |
| PRMT1 | GeneProduct | ensembl:ENSG00000126457 | |
| PLN | GeneProduct | ensembl:ENSG00000198523 | |
| GRB2 | GeneProduct | ensembl:ENSG00000177885 | |
| MPL | GeneProduct | ensembl:ENSG00000117400 | |
| ATP2A1 | GeneProduct | ensembl:ENSG00000196296 | |
| JAK2 | GeneProduct | ensembl:ENSG00000096968 | |
| RABEP2 | GeneProduct | ensembl:ENSG00000177548 | |
| ATP2A1-AS1 | GeneProduct | ensembl:ENSG00000260442 | |
| NFATC2 | GeneProduct | ensembl:ENSG00000101096 | |
| CR2 | GeneProduct | ensembl:ENSG00000117322 | also known as CD21 |
| ATXN2L | GeneProduct | ensembl:ENSG00000168488 | |
| C3 | GeneProduct | ensembl:ENSG00000125730 | |
| SDCCAG8 | GeneProduct | ensembl:ENSG00000054282 | |
| RAB4A | GeneProduct | ensembl:ENSG00000168118 | |
| RABGEF1 | GeneProduct | ensembl:ENSG00000154710 | |
| TUFM | GeneProduct | ensembl:ENSG00000178952 | |
| SPNS1 | GeneProduct | ensembl:ENSG00000169682 | |
| SLN | GeneProduct | ensembl:ENSG00000170290 | |
| IL4 | GeneProduct | ensembl:ENSG00000113520 | |
| INSR | GeneProduct | ensembl:ENSG00000171105 | |
| TRAF2 | GeneProduct | ensembl:ENSG00000127191 |
References
- Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling. Rui L, Mathews LS, Hotta K, Gustafson TA, Carter-Su C. Mol Cell Biol. 1997 Nov;17(11):6633–44. PubMed Europe PMC Scholia
- Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. Shah ZH, Migliosi V, Miller SC, Wang A, Friedman TB, Jacobs HT. Genomics. 1998 Mar 15;48(3):384–8. PubMed Europe PMC Scholia
- SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase. Kotani K, Wilden P, Pillay TS. Biochem J. 1998 Oct 1;335 ( Pt 1)(Pt 1):103–9. PubMed Europe PMC Scholia
- CD19 is linked to the integrin-associated tetraspans CD9, CD81, and CD82. Horváth G, Serru V, Clay D, Billard M, Boucheix C, Rubinstein E. J Biol Chem. 1998 Nov 13;273(46):30537–43. PubMed Europe PMC Scholia
- Vav-2 controls NFAT-dependent transcription in B- but not T-lymphocytes. Doody GM, Billadeau DD, Clayton E, Hutchings A, Berland R, McAdam S, et al. EMBO J. 2000 Nov 15;19(22):6173–84. PubMed Europe PMC Scholia
- Hyaluronan promotes CD44v3-Vav2 interaction with Grb2-p185(HER2) and induces Rac1 and Ras signaling during ovarian tumor cell migration and growth. Bourguignon LY, Zhu H, Zhou B, Diedrich F, Singleton PA, Hung MC. J Biol Chem. 2001 Dec 28;276(52):48679–92. PubMed Europe PMC Scholia
- Cloning and characterization of a family of proteins associated with Mpl. Meunier C, Bordereaux D, Porteu F, Gisselbrecht S, Chrétien S, Courtois G. J Biol Chem. 2002 Mar 15;277(11):9139–47. PubMed Europe PMC Scholia
- Sarcolipin inhibits polymerization of phospholamban to induce superinhibition of sarco(endo)plasmic reticulum Ca2+-ATPases (SERCAs). Asahi M, Kurzydlowski K, Tada M, MacLennan DH. J Biol Chem. 2002 Jul 26;277(30):26725–8. PubMed Europe PMC Scholia
- Sarcolipin regulates sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban. Asahi M, Sugita Y, Kurzydlowski K, De Leon S, Tada M, Toyoshima C, et al. Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5040–5. PubMed Europe PMC Scholia
- CD19: a biomarker for B cell development, lymphoma diagnosis and therapy. Wang K, Wei G, Liu D. Exp Hematol Oncol. 2012 Nov 29;1(1):36. PubMed Europe PMC Scholia
- SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling. Airik R, Schueler M, Airik M, Cho J, Ulanowicz KA, Porath JD, et al. PLoS One. 2016 May 25;11(5):e0156081. PubMed Europe PMC Scholia
- The Rab-effector protein RABEP2 regulates endosomal trafficking to mediate vascular endothelial growth factor receptor-2 (VEGFR2)-dependent signaling. Kofler N, Corti F, Rivera-Molina F, Deng Y, Toomre D, Simons M. J Biol Chem. 2018 Mar 30;293(13):4805–17. PubMed Europe PMC Scholia