SH2B1

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SH2B1
Protein SH2B1 PDB 2hdv.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SH2B1, PSM, SH2B, SH2B adaptor protein 1
External IDs MGI: 1201407 HomoloGene: 32122 GeneCards: 25970
Genetically Related Diseases
Disease Name References
obesity
RNA expression pattern
PBB GE SH2B1 209322 s at tn.png

PBB GE SH2B1 40149 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC) Chr 16: 28.85 – 28.87 Mb Chr 7: 126.47 – 126.48 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

SH2B adapter protein 1 is a protein that in humans is encoded by the SH2B1 gene.[1][2][3]

Interactions[edit]

SH2B1 has been shown to interact with:

Clinical significance[edit]

Variations close to or in the SH2B1 gene have been found to associatate with obesity in two very large genome wide association studies of body mass index (BMI).[9][10] Furthermore, SH2B1 deletions are associated with severe early-onset obesity.[11]

See also[edit]

References[edit]

  1. ^ Kong M, Wang CS, Donoghue DJ (Apr 2002). "Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation". J Biol Chem 277 (18): 15962–70. doi:10.1074/jbc.M102777200. PMID 11827956. 
  2. ^ a b Nelms K, O'Neill TJ, Li S, Hubbard SR, Gustafson TA, Paul WE (Jan 2000). "Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain". Mamm Genome 10 (12): 1160–7. doi:10.1007/s003359901183. PMID 10594240. 
  3. ^ "Entrez Gene: SH2B1 SH2B adaptor protein 1". 
  4. ^ a b Qian X, Riccio A, Zhang Y, Ginty DD (November 1998). "Identification and characterization of novel substrates of Trk receptors in developing neurons". Neuron 21 (5): 1017–29. doi:10.1016/s0896-6273(00)80620-0. PMID 9856458. 
  5. ^ a b Kotani K, Wilden P, Pillay TS (October 1998). "SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase". Biochem. J. 335 335 (1): 103–9. doi:10.1042/bj3350103. PMC 1219757. PMID 9742218. 
  6. ^ Rui L, Mathews LS, Hotta K, Gustafson TA, Carter-Su C (November 1997). "Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling". Mol. Cell. Biol. 17 (11): 6633–44. PMC 232517. PMID 9343427. 
  7. ^ Xie S, Lin H, Sun T, Arlinghaus RB (October 2002). "Jak2 is involved in c-Myc induction by Bcr-Abl". Oncogene 21 (47): 7137–46. doi:10.1038/sj.onc.1205942. PMID 12370803. 
  8. ^ Koch A, Mancini A, Stefan M, Niedenthal R, Niemann H, Tamura T (March 2000). "Direct interaction of nerve growth factor receptor, TrkA, with non-receptor tyrosine kinase, c-Abl, through the activation loop". FEBS Lett. 469 (1): 72–6. doi:10.1016/s0014-5793(00)01242-4. PMID 10708759. 
  9. ^ Thorleifsson G, Walters GB, Gudbjartsson DF, Steinthorsdottir V, Sulem P, Helgadottir A, Styrkarsdottir U, Gretarsdottir S, Thorlacius S, Jonsdottir I, Jonsdottir T, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Jonsson F, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Lauritzen T, Aben KK, Verbeek AL, Roeleveld N, Kampman E, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Becker DM, Gulcher J, Kiemeney LA, Pedersen O, Kong A, Thorsteinsdottir U, Stefansson K (January 2009). "Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.". Nat. Genet. 41 (1): 18–24. doi:10.1038/ng.274. PMID 19079260. 
  10. ^ Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RM, Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JH, Jacobs LC, Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GD, Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM, Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D, Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB, Johnson T, Jousilahti P, Jovanovic Z, Khaw KT, Kraft P, Kuokkanen M, Kuusisto J, Laitinen J, Lakatta EG, Luan J, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstråle M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S, Stringham HM, Tung YC, Valle TT, Van Duijn CM, Vimaleswaran KS, Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM, Watkins N, Witteman JC, Zeggini E, Zhai G, Zillikens MC, Altshuler D, Caulfield MJ, Chanock SJ, Farooqi IS, Ferrucci L, Guralnik JM, Hattersley AT, Hu FB, Jarvelin MR, Laakso M, Mooser V, Ong KK, Ouwehand WH, Salomaa V, Samani NJ, Spector TD, Tuomi T, Tuomilehto J, Uda M, Uitterlinden AG, Wareham NJ, Deloukas P, Frayling TM, Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger D, Strachan DP, Wichmann HE, McCarthy MI, Boehnke M, Barroso I, Abecasis GR, Hirschhorn JN (January 2009). "Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.". Nat. Genet. 41 (1): 24–34. doi:10.1038/ng.287. PMC 2695662. PMID 19079261. 
  11. ^ Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS (February 2010). "Large, rare chromosomal deletions associated with severe early-onset obesity". Nature 463 (7281): 666–70. doi:10.1038/nature08689. PMC 3108883. PMID 19966786. 

Further reading[edit]