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.


Friederike Ehrhart , Egon Willighagen , and Eric Weitz


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Homo sapiens


Rare Diseases


Pathway Ontology

disease pathway

Disease 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
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
GRB2 GeneProduct ensembl:ENSG00000177885
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
CD19 GeneProduct ensembl:ENSG00000177455
RABEP2 GeneProduct ensembl:ENSG00000177548


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