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SH2B adaptor protein 3

Lnk, SH2B3
This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus.[provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: JAK2, SH2-B, CAN, Src, MPL
Papers on Lnk
Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells.
Sankaran et al., Boston, United States. In Cell Stem Cell, Feb 2016
The SH2B3 gene encodes a negative regulator of cytokine signaling and naturally occurring loss-of-function variants in this gene increase RBC counts in vivo.
Using GWAS to identify genetic predisposition in hepatic autoimmunity.
Hirschfield et al., Birmingham, United Kingdom. In J Autoimmun, Jan 2016
Further, we focus on specific gene associations including SH2B3, which is common to all three diseases, and FUT2 in PSC, which represents a link between environment and genetics.
Linking inflammation and hypertension via LNK/SH2B3.
Madhur et al., Nashville, United States. In Curr Opin Nephrol Hypertens, Jan 2016
Genome-wide association studies identified a single-nucleotide polymorphism in the gene SH2B3 encoding the lymphocyte adaptor protein, LNK, but, until recently, little was known about how LNK contributes to hypertension.
LNK mutations and myeloproliferative disorders.
Cario et al., Ireland. In Am J Hematol, Jan 2016
UNASSIGNED: The lymphocyte adaptor protein (LNK) is one of a family of adaptor proteins involved cell signalling and control of B cell populations.
Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity.
Kim et al., Stanford, United States. In Plos Genet, Dec 2015
The loci that replicated (FDR < 5%) included APOE/TOMM40 (associated with Alzheimer's disease), CDKN2B/ANRIL (implicated in the regulation of cellular senescence), ABO (tags the O blood group), and SH2B3/ATXN2 (a signaling gene that extends lifespan in Drosophila and a gene involved in neurological disease).
Presence of atypical thrombopoietin receptor (MPL) mutations in triple negative essential thrombocythemia patients.
Vainchenker et al., Villejuif, France. In Blood, Nov 2015
We found several signaling mutations including JAK2V617F at very low allele frequency, one homozygous SH2B3 mutation, one MPLS505N, one MPLW515R and two MPLS204P mutations.
Transitioning from Idiopathic to Explainable Autoimmune Hepatitis.
Czaja, Rochester, United States. In Dig Dis Sci, Oct 2015
Polymorphisms, including variants of SH2B3 and CARD10 genes, may affect immune reactivity and disease severity.
Association between IL2/IL21 and SH2B3 polymorphisms and risk of celiac disease: a meta-analysis.
Jing et al., Guangzhou, China. In Genet Mol Res, 2014
Certain gene polymorphisms of IL2/IL21 (rs6822844 and rs6840978) and SH2B3 (rs3184504) may influence susceptibility to CD, although the effects remain unclear.
Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
Tomlinson et al., Brisbane, Australia. In Sci Rep, 2014
This polymorphism, a missense variant in the gene SH2B3, is also associated with haematological and autoimmune disorders, suggesting that it influences cancer risk through the immune response.
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.
Houlston et al., Edinburgh, United Kingdom. In Sci Rep, 2014
Single-variant analysis identified a coding variant (rs3184504) in SH2B3 (12q24) associated with CRC risk (OR = 1.08, P = 3.9 × 10(-7)), and novel damaging coding variants in 3 genes previously tagged by GWAS efforts; rs16888728 (8q24) in UTP23 (OR = 1.15, P = 1.4 × 10(-7)); rs6580742 and rs12303082 (12q13) in FAM186A (OR = 1.11, P = 1.2 × 10(-7) and OR = 1.09, P = 7.4 × 10(-8)); rs1129406 (12q13) in ATF1 (OR = 1.11, P = 8.3 × 10(-9)), all reaching exome-wide significance levels.
Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
Mullighan et al., Memphis, United States. In N Engl J Med, 2014
Kinase-activating alterations were identified in 91% of patients with Ph-like ALL; rearrangements involving ABL1, ABL2, CRLF2, CSF1R, EPOR, JAK2, NTRK3, PDGFRB, PTK2B, TSLP, or TYK2 and sequence mutations involving FLT3, IL7R, or SH2B3 were most common.
SH2B1 regulation of energy balance, body weight, and glucose metabolism.
Rui, Ann Arbor, United States. In World J Diabetes, 2014
The Src homology 2B (SH2B) family members (SH2B1, SH2B2 and SH2B3) are adaptor signaling proteins containing characteristic SH2 and PH domains.
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
Lettre et al., Milwaukee, United States. In Nat Genet, 2014
We also identified missense or splice-site variants in key hematopoiesis regulators (EPO, TFR2, HBB, TUBB1 and SH2B3) associated with blood cell traits.
The landscape of somatic mutations in Down syndrome-related myeloid disorders.
Ogawa et al., Tokyo, Japan. In Nat Genet, 2013
Subsequent AMKL evolves from a pre-existing TAM clone through the acquisition of additional mutations, with major mutational targets including multiple cohesin components (53%), CTCF (20%), and EZH2, KANSL1 and other epigenetic regulators (45%), as well as common signaling pathways, such as the JAK family kinases, MPL, SH2B3 (LNK) and multiple RAS pathway genes (47%).
Genetic variants regulating immune cell levels in health and disease.
Cucca et al., Monserrato, Italy. In Cell, 2013
Notably, variants at three loci (HLA, IL2RA, and SH2B3/ATXN2) overlap with known autoimmune disease associations.
LNK (SH2B3) is a key regulator of integrin signaling in endothelial cells and targets α-parvin to control cell adhesion and migration.
Charreau et al., Nantes, France. In Faseb J, 2012
Lnk adaptor is an effective regulator of the integrin-mediated signaling pathway that affects endothelial cell adhesion and migration processes.
14-3-3 regulates the LNK/JAK2 pathway in mouse hematopoietic stem and progenitor cells.
Tong et al., Philadelphia, United States. In J Clin Invest, 2012
14-3-3 regulates the LNK/JAK2 pathway in mouse hematopoietic stem and progenitor cells
Adaptor protein LNK is a negative regulator of brain neural stem cell proliferation after stroke.
Kokaia et al., Lund, Sweden. In J Neurosci, 2012
LNK as a stroke-specific, endogenous negative regulator of neural stem and progenitor cell proliferation
Novel associations for hypothyroidism include known autoimmune risk loci.
Do et al., Mountain View, United States. In Plos One, 2011
Novel associations for hypothyroidism and autoimmune risk loci include SNPs near the SH2B3 gene.
Absence of SH2B3 mutation in nonobese diabetic mice.
Zhang et al., Beijing, China. In Genet Mol Res, 2011
that the SH2B3 mutation is absent in NOD mice. To our knowledge, this is the first report of the sequence and the protein levels of SH2B3 in NOD mice
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