SH2B1

SH2B adaptor protein 1

PDB rendering based on 2hdv.
Identifiers
Symbols SH2B1; DKFZp547G1110; FLJ30542; KIAA1299; PSM; SH2B
External IDs OMIM: 608937 MGI: 1201407 HomoloGene: 32122 GeneCards: SH2B1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 25970 20399
Ensembl ENSG00000178188 ENSMUSG00000030733
UniProt Q9NRF2 n/a
RefSeq (mRNA) NM_001145795.1 NM_001081459
RefSeq (protein) NP_001139267.1 NP_001074928
Location (UCSC) Chr 16:
28.86 – 28.89 Mb		 Chr 7:
133.61 – 133.62 Mb
PubMed search [1] [2]

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

Contents

Interactions

SH2B1 has been shown to interact with Insulin receptor,[4][2] Grb2,[5][4] TrkA[5][6] and Janus kinase 2.[7][8]

Clinical significance

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

References

  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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25970. 
  4. ^ 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 ( Pt 1): 103–9. PMC 1219757. PMID 9742218. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1219757. 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=232517. 
  8. ^ 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. 
  9. ^ Thorleifsson G, Walters GB, Gudbjartsson DF, et al. (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, et al. (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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2695662. 
  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. PMID 19966786. 

Further reading