Recombinant Human SH2B adapter protein 3 (SH2B3)

1. As a novel finding, our study suggests a role for KCNK5 in the regulation of platelet size and maturity. Furthermore, our findings confirm an association between the SH2B3-locus and platelet count. PMID: 28865245
2. Single-nucleotide polymorphism in SH2B3 gene is associated with Hashimoto's thyroiditis. PMID: 28382505
3. four selected single-nucleotide polymorphisms (SNPs) in the SH2B3 gene were genotyped in 158 patients with AIH, 327 patients with primary biliary cholangitis, 160 patients with autoimmune pancreatitis, and 325 healthy subjects of Japanese descent. Our findings suggest that an SNP and haplotype in SH2B3 are associated with Autoimmune hepatitis. PMID: 28703133
4. In conclusion, germ line LNK mutations rarely occur in familial myeloproliferative neoplasms (MPNs) and do not segregate with the disease phenotype. The findings suggest that mutations in LNK, either germ line or acquired, may cooperate with acquired driver mutations in JAK2, CALR, or MPL to determine disease phenotype in MPNs. PMID: 27216218
5. indicate that IL7RhighSH2B3low expression distinguishes a novel subset of high-risk B-acute lymphoblastic leukemia associated with Ikaros dysfunction PMID: 27322554
6. Elevated expression of Lnk in polycystic ovary syndrome suggests that Lnk probably plays a role in the development of insulin resistance. PMID: 27459314
7. Hypercholesterolemia acts in platelets and hematopoietic progenitors to exacerbate thrombosis and atherosclerosis associated with SH2B3 deficiency. PMID: 27430239
8. The polymorphisms in LNK gene correlated to the clinical type of myeloproliferative neoplasms regardless of the JAK2 polymorphism. PMID: 27111338
9. SH2B3 mutations occur infrequently, and exon 8 in SH2B3 may be the most frequent mutational area in BCR-ABL negative myeloproliferative neoplasms patients in Korea. PMID: 26522763
10. LNK/SH2B3 is a key driver gene for human hypertension, and alteration of LNK in animal models has a profound effect on inflammation and hypertension. Thus, LNK is a potential therapeutic target for this disease and its devastating consequences. PMID: 26717315
11. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. PMID: 26621817
12. results suggest that LNK suppresses IL-7R/JAK/STAT signaling to restrict pro-/pre-B progenitor expansion and leukemia development, providing a pathogenic mechanism and a potential therapeutic approach for B-ALLs with LNK mutations. PMID: 26974155
13. the minor allele A of rs3184504 (A vs G, OR = 1.18, 95%CI = 1.12-1.24, P < 0.001) in SH2B3 significantly increased celiac disease susceptibility (Meta-Analysis) PMID: 26535636
14. A number of mutations in LNK have been described in a variety of myeloproliferative neoplasms some of which have been demonstrated to cause increased cellular proliferation. PMID: 26660394
15. The single-nucleotide polymorphism in SH2B3 was significantly associated with Hypertension in an Algerian population sample. PMID: 25231511
16. Genetic variations in inflammation and its related subpathway components are keys to the development of lung, colorectal, ovary, and breast cancer, including SH2B3, which is associated with lung, colorectal, and breast cancer. PMID: 26319099
17. in contrast to the findings in hematologic malignancies, the adaptor protein LNK acts as a positive signal transduction modulator in ovarian cancers. PMID: 24704825
18. There was an infrequent occurrence of LNK mutations in patients with JAK2 mutation-negative erythrocytosis. PMID: 23812944
19. IL-11 therefore drives a pathway that enhances HSPC radioresistance and radiation-induced B-cell malignancies, but is normally attenuated by the inhibitory adaptor Lnk. PMID: 24297922
20. Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus. PMID: 23844121
21. Overall, these results demonstrate a Knudson tumor suppressor role for SH2B3 in the pathogenesis of acute lymphoblastic leukemia PMID: 23908464
22. observations suggest that genotyping of SNPs at this locus may be useful for the study of ALS risk in a high percentage of individuals and that ATXN2 and SH2B3 variants may interact in modulating the disease pathway PMID: 22916186
23. Novel associations for hypothyroidism and autoimmune risk loci include SNPs near the SH2B3 gene. PMID: 22493691
24. Lnk adaptor is an effective regulator of the integrin-mediated signaling pathway that affects endothelial cell adhesion and migration processes. PMID: 22441983
25. SH2B3 inhibits neuronal differentiation of PC12 cells and primary cortical neurons PMID: 22028877
26. Study suggests that LNK mutations occur in low frequency in human MPN, and can occur in several regions of the LNK gene not only on a pleckstrin homology domain which have been regarded as a hot spot. PMID: 21922527
27. LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation. PMID: 21794913
28. A nonsynonymous LNK polymorphism is associated with idiopathic erythrocytosis. PMID: 21990094
29. Lnk is a potential candidate for the modulation of signaling pathways to protect vascular endothelial cells from inflammation in xenotransplantation. PMID: 21496118
30. The Lnk is a negative regulator of PDGFR signaling. PMID: 21310211
31. The SH2B3 784T>C variant could contribute to the pathogenesis of T1 diabetes through impaired immune response that promotes activation and expansion of self-reactive lymphocytes in susceptible individuals. PMID: 20546165
32. LNK mutation is associated with blast-phase myeloproliferative neoplasms. PMID: 20724988
33. rs3184504 in SH2B3 confers susceptibility for multiple sclerosis. PMID: 20508602
34. The current study suggests that LNK mutations are part of the "missing link" in the pathogenesis of JAK2 mutation-negative "idiopathic" erythrocytosis or polycythemia vera. PMID: 20843259
35. myeloproliferative neoplasms patients bearing LNK mutations exhibited aberrant JAK-STAT activation, and cytokine-responsive CD34(+) early progenitors were abnormally abundant PMID: 20404132
36. Association of the polymorphisms of the ERBB3 and SH2B3 genes with type 1 diabetes PMID: 20586186
37. Functional investigation of the effect of the SH2B3 genotype in response to lipopolysaccharide and muramyl dipeptide revealed that carriers of the SH2B3 rs3184504*A risk allele showed stronger activation of the NOD2 recognition pathway PMID: 20560212
38. Adaptor Lnk is a negative regulator in the TNFalpha-signaling pathway mediating ERK inhibition suggesta a role for Lnk in the interplay between PI3K and ERK triggered by TNFalpha in vascular endothelial cells. PMID: 16644735
39. TNF-alpha induces Lnk expression through PI3K-dependent signaling pathway in umbilical vein endothelial cells PMID: 17007883
40. Data show that Lnk bound directly to c-Kit through Tyr(568) on juxtamembrane domain of c-Kit. PMID: 18588518
41. A nonsynonymous SNP at 12q24, in SH2B3, associated significantly with myocardial infarction in six different populations. PMID: 19198610
42. Lnk is a potent inhibitor of JAK2V617F constitutive activity. PMID: 19293402
43. in parallel to binding wild-type JAK2 and c-KIT, Lnk associates with and is phosphorylated by mutant alleles of JAK2 and c-KIT. PMID: 19375649
44. Genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 18311140

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HGNC: 29605

OMIM: 222100

KEGG: hsa:10019

STRING: 9606.ENSP00000345492

UniGene: Hs.506784