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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SH2B1
SH2B adaptor protein 1
Chromosome 16 · 16p11.2
NCBI Gene: 25970Ensembl: ENSG00000178188.16HGNC: HGNC:30417UniProt: B3KNV5
111PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of SMAD protein signal transductionintracellular signal transductiontransmembrane receptor protein tyrosine kinase adaptor activitysevere early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyneurodegenerative diseasedistal 16p11.2 microdeletion syndromeprimary ovarian insufficiency
✦AI Summary

SH2B1 is a multifunctional adaptor protein that serves as a critical regulator of energy homeostasis and cellular signaling. Mechanistically, SH2B1 enhances kinase activity of JAK2 and multiple receptor tyrosine kinases including insulin, IGF1, and BDNF receptors 1. In leptin signaling, SH2B1 binds simultaneously to JAK2 and IRS1/IRS2, promoting formation of signaling complexes that activate PI3-kinase pathways 2. SH2B1 localizes to plasma membranes, cytoplasm, and focal adhesions, where it regulates actin cytoskeletal reorganization and promotes cell motility 3. Genetically, SH2B1 mutations are strongly associated with early-onset obesity, leptin resistance, insulin resistance, and type 2 diabetes in humans 4. Global Sh2b1 deletion in mice produces severe obesity, insulin resistance, and hyperphagia 2, while neuron-specific restoration rescues obesity phenotypes 5. A paraventricular hypothalamus→dorsal raphe nucleus neurocircuit expressing SH2B1 regulates energy balance through BDNF/TrkB signaling 5. Beyond metabolic disease, SH2B1 expression is downregulated in Parkinson's disease brains, and neuronal SH2B1 protects against MPTP-induced dopaminergic neurodegeneration through HSC70-mediated PLIN4 degradation 6. SH2B1 has also been implicated in cancer progression across multiple tissue types 7, demonstrating pleiotropic functions in disease pathogenesis.

Sources cited
1
SH2B1 enhances JAK2 kinase activity and receptor tyrosine kinase signaling; deletion causes obesity, leptin resistance, and insulin resistance
PMID: 17140804
2
SH2B1 enhances leptin and insulin signaling by stimulating JAK2 and assembling JAK2/IRS1/2 complexes; SH2B1 mutations linked to obesity and type 2 diabetes in humans
PMID: 25126397
3
SH2B1 localizes to plasma membrane, cytoplasm, and focal adhesions; regulates actin cytoskeleton and GH-dependent cellular motility
PMID: 26421979
4
SH2B1 locus identified as associated with body mass index in genome-wide association study of 249,796 individuals
PMID: 20935630
5
SH2B1 in paraventricular hypothalamus neurons projecting to dorsal raphe nucleus regulates energy balance through BDNF/TrkB signaling; deletion causes obesity and metabolic dysfunction
PMID: 38885417
6
Neuronal SH2B1 expression downregulated in Parkinson's disease; SH2B1 protects against MPTP-induced neurodegeneration via SH2B1-HSC70-PLIN4 axis suppressing lipid peroxidation
PMID: 35390677
7
SH2B1 involved in progression of lung, esophageal, gastric, and oropharyngeal cancers by promoting cell mitogenesis and survival
PMID: 31739166
8
Genetic and structural variations in SH2B1 identified in obese populations; functional significance of variants requires further investigation
PMID: 26031769
Disease Associationsⓘ20
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.38Weak
distal 16p11.2 microdeletion syndromeOpen Targets
0.34Weak
primary ovarian insufficiencyOpen Targets
0.28Weak
obesityOpen Targets
0.23Weak
type 2 diabetes mellitusOpen Targets
0.16Weak
intelligenceOpen Targets
0.13Weak
smoking behaviorOpen Targets
0.13Weak
MODYOpen Targets
0.11Weak
bipolar disorderOpen Targets
0.11Weak
type 1 diabetes mellitusOpen Targets
0.10Weak
overnutritionOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
schizophreniaOpen Targets
0.10Suggestive
ACPA-positive rheumatoid arthritisOpen Targets
0.10Suggestive
atrial fibrillationOpen Targets
0.09Suggestive
risk-taking behaviourOpen Targets
0.09Suggestive
hypogonadismOpen Targets
0.09Suggestive
erysipelasOpen Targets
0.09Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MC4RProtein interaction97%NTRK1Protein interaction97%NTRK3Protein interaction97%TMEM18Protein interaction96%KCTD15Protein interaction96%IRS1Protein interaction94%
Tissue Expression6 tissues
Ovary
100%
Liver
63%
Heart
58%
Bone Marrow
55%
Lung
52%
Brain
31%
Gene Interaction Network
Click a node to explore
SH2B1MC4RNTRK1NTRK3TMEM18KCTD15IRS1
PROTEIN STRUCTURE
Preparing viewer…
PDB5W3R · 1.39 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.24 [0.16–0.37]
RankingsWhere SH2B1 stands among ~20K protein-coding genes
  • #4,292of 20,598
    Most Researched111 · top quartile
  • #1,760of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedSH2B1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Neuronal SH2B1 attenuates apoptosis in an MPTP mouse model of Parkinson's disease via promoting PLIN4 degradation.
PMID: 35390677
Redox Biol · 2022
1.00
2
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
PMID: 20935630
Nat Genet · 2010
0.90
3
Genetic and structural variation in the SH2B1 gene in the Belgian population.
PMID: 26031769
Mol Genet Metab · 2015
0.80
4
New perspective on SH2B1: An accelerator of cancer progression.
PMID: 31739166
Biomed Pharmacother · 2020
0.70
5
SH2B1 regulation of energy balance, body weight, and glucose metabolism.
PMID: 25126397
World J Diabetes · 2014
0.60