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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SH2B3
SH2B adaptor protein 3
Chromosome 12 Β· 12q24.12
NCBI Gene: 10019Ensembl: ENSG00000111252.11HGNC: HGNC:29605UniProt: B7Z7K6
123PubMed Papers
22Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of response to cytokine stimulusprotein bindingthrombopoietin-mediated signaling pathwayerythrocyte developmentceliac diseasetype 1 diabetes mellitushypertensioncoronary artery disease
✦AI Summary

SH2B3 (LNK) encodes a lymphocyte adaptor protein that functions as a critical negative regulator of cytokine signaling through inhibition of JAK/STAT pathways 1. The protein is predominantly expressed in hematopoietic and endothelial cells and negatively regulates cell proliferation and cytokine receptor signaling 2. SH2B3 controls hematopoietic stem cell homeostasis by modulating cytokine-mediated JAK/STAT activation in CD34+ hematopoietic stem and progenitor cells 1. The protein plays essential roles in suppressing arterial thrombosis by regulating eosinophil and neutrophil activation, preventing neutrophil extracellular trap (NET) formation and eosinophil extracellular trap (EET) formation 34. Loss-of-function variants, particularly the common R262W polymorphism (T allele), reduce SH2B3 function and are associated with increased cardiovascular disease risk, eosinophilia, neutrophilia, and thrombocytosis 53. The variant promotes oxidized phospholipid-dependent NETosis and arterial thrombosis 3. Clinically, SH2B3 variants are linked to coronary heart disease, atrial fibrillation, hypertension, and hematologic malignancies including acute lymphoblastic leukemia where sequence mutations contribute to kinase-activating lesions 67.

Sources cited
1
SH2B3 functions as negative regulator of JAK/STAT pathways and controls human hematopoietic stem cell homeostasis
PMID: 34844262
2
SH2B3/LNK is expressed in hematopoietic and endothelial cells and negatively regulates cell proliferation and cytokine signaling
PMID: 26717315
3
SH2B3 deficiency promotes NETosis and arterial thrombosis through oxidized phospholipid-dependent mechanisms
PMID: 34846914
4
SH2B3 deficiency in eosinophils promotes EETosis and arterial thrombosis
PMID: 38096361
5
R262W polymorphism is associated with coronary heart disease risk
PMID: 30508957
6
SH2B3 sequence mutations are found in Ph-like acute lymphoblastic leukemia
PMID: 25207766
7
SH2B3 variants are associated with atrial fibrillation and AF-related stroke
PMID: 38377486
Disease Associationsβ“˜22
celiac diseaseOpen Targets
0.62Moderate
type 1 diabetes mellitusOpen Targets
0.57Moderate
hypertensionOpen Targets
0.56Moderate
coronary artery diseaseOpen Targets
0.56Moderate
hypothyroidismOpen Targets
0.55Moderate
Ischemic strokeOpen Targets
0.54Moderate
rheumatoid arthritisOpen Targets
0.53Moderate
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.52Moderate
psoriasisOpen Targets
0.52Moderate
thyroid diseaseOpen Targets
0.51Moderate
myeloproliferative disorderOpen Targets
0.50Moderate
Abnormality of the skeletal systemOpen Targets
0.50Moderate
autoimmune diseaseOpen Targets
0.50Moderate
cardiovascular diseaseOpen Targets
0.50Moderate
myocardial infarctionOpen Targets
0.50Moderate
essential hypertensionOpen Targets
0.49Moderate
sclerosing cholangitisOpen Targets
0.49Moderate
Myocardial IschemiaOpen Targets
0.48Moderate
thrombocythemia 1Open Targets
0.47Moderate
coronary atherosclerosisOpen Targets
0.46Moderate
Celiac disease 13UniProt
Type 1 diabetes mellitusUniProt
Pathogenic Variants5
NM_005475.3(SH2B3):c.1148dup (p.Pro383_Asp384insTer)Pathogenic
Juvenile myelomonocytic leukemia
β˜…β˜†β˜†β˜†2025β†’ Residue 383
NM_005475.3(SH2B3):c.1566dup (p.Glu523fs)Likely pathogenic
Primary myelofibrosis
β˜…β˜†β˜†β˜†2024β†’ Residue 523
NM_005475.3(SH2B3):c.1A>G (p.Met1Val)Pathogenic
Primary familial polycythemia due to EPO receptor mutation
β˜…β˜†β˜†β˜†2022β†’ Residue 1
NM_005475.3(SH2B3):c.1228del (p.Gly409_Ile410insTer)Pathogenic
Hereditary cancer-predisposing syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 409
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs)Pathogenic
Primary myelofibrosis
β˜†β˜†β˜†β˜†2010β†’ Residue 202
View on ClinVar β†—
Related Genes
GRB2Protein interaction97%JAK2Protein interaction92%NTRK1Protein interaction91%NTRK2Protein interaction91%NTRK3Protein interaction91%KITProtein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
45%
Heart
41%
Liver
21%
Brain
12%
Ovary
10%
Gene Interaction Network
Click a node to explore
SH2B3GRB2JAK2NTRK1NTRK2NTRK3KIT
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q59H48
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.35LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.04 [0.81–1.35]
RankingsWhere SH2B3 stands among ~20K protein-coding genes
  • #3,836of 20,598
    Most Researched123 Β· top quartile
  • #3,514of 5,498
    Most Pathogenic Variants5
  • #14,114of 17,882
    Most Constrained (LOEUF)1.35
Genes detectedSH2B3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
PMID: 25207766
N Engl J Med Β· 2014
1.00
2
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia.
PMID: 22237106
Nature Β· 2012
0.90
3
Oxidized Phospholipids Promote NETosis and Arterial Thrombosis in LNK(SH2B3) Deficiency.
PMID: 34846914
Circulation Β· 2021
0.80
4
LNK/SH2B3 loss of function increases susceptibility to murine and human atrial fibrillation.
PMID: 38377486
Cardiovasc Res Β· 2024
0.70
5
Role of SH2B3 R262W gene polymorphism and risk of coronary heart disease: A PRISMA-compliant meta-analysis.
PMID: 30508957
Medicine (Baltimore) Β· 2018
0.60