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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SHC2
SHC adaptor protein 2
Chromosome 19 · 19p13.3
NCBI Gene: 25759Ensembl: ENSG00000129946.12HGNC: HGNC:29869UniProt: P98077
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingreceptor tyrosine kinase bindingcell surface receptor protein tyrosine kinase signaling pathwayplasma membraneHallux valgusmouth neoplasmmultiple system atrophymultinodular goiter
✦AI Summary

SHC2 (SHC adaptor protein 2) is a signaling adapter protein that couples activated growth factor receptors to downstream signaling pathways, particularly in neuronal contexts 1. The protein functions as a receptor tyrosine kinase-binding adapter involved in cell surface receptor signaling and interacts with focal adhesion kinase in cellular density-dependent mechanisms 2. Clinically, SHC2 is associated with multiple system atrophy (MSA), a progressive neurodegenerative α-synucleinopathy characterized by autonomic failure and motor symptoms. Copy number loss of SHC2 in the 19p13.3 subtelomeric region was identified as a disease-specific alteration, occurring in affected monozygotic twins discordant for MSA and in 32% of Japanese MSA patients, with statistical significance suggesting a causal link (odds ratio = 89.8) 1. However, this association shows population-specific heterogeneity; a subsequent US cohort study found no SHC2 deletions in 105 well-characterized MSA patients, indicating genetic background influences disease mechanisms 3. Additionally, SHC2 has been identified as a candidate loss-of-function gene in familial cholesteatoma across multiple families 4 and as a potential Alzheimer disease-associated gene variant when restricting analysis to functional coding sequence variants 5. These findings suggest SHC2 dysfunction contributes to multiple neurodegenerative and otologic disorders through impaired signaling adapter function.

Sources cited
1
SHC2 copy number loss is disease-specific to MSA in affected MZ twin and 10 of 31 MSA patients with statistical significance (p = 1.04 × 10-8, odds ratio = 89.8)
PMID: 21658278
2
SHC2 gene deletions were not found in 105 well-characterized US MSA patients, indicating population-specific heterogeneity of the disease
PMID: 24170347
3
SHC2 was identified as a loss-of-function candidate gene with variants co-segregating with cholesteatoma in two or more families
PMID: 36920900
4
SHC2 was identified as a potential AD-associated gene through gene-constrained genomic analysis of variants impacting gene function
PMID: 38354736
5
SHC2 and SHC3 expression increases with cell density, and SHC3 interacts with focal adhesion kinase in glioblastoma cells
PMID: 25062668
Disease Associationsⓘ20
Hallux valgusOpen Targets
0.22Weak
mouth neoplasmOpen Targets
0.16Weak
multiple system atrophyOpen Targets
0.05Suggestive
multinodular goiterOpen Targets
0.04Suggestive
chronic kidney diseaseOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
disorder of earOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
hypertensionOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
proliferative diabetic retinopathyOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
colon adenocarcinomaOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
dementiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SHC4Shared pathway100%SH2D6Shared pathway100%GRB2Protein interaction100%EGFRProtein interaction100%NTRK2Protein interaction96%ERBB4Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Ovary
20%
Brain
18%
Heart
14%
Lung
13%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SHC2SHC4SH2D6GRB2EGFRNTRK2ERBB4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P98077
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.48LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.20 [0.97–1.48]
RankingsWhere SHC2 stands among ~20K protein-coding genes
  • #12,036of 20,598
    Most Researched30
  • #15,072of 17,882
    Most Constrained (LOEUF)1.48
Genes detectedSHC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy.
PMID: 21658278
Mol Brain · 2011
1.00
2
SHC2 gene copy number in multiple system atrophy (MSA).
PMID: 24170347
Clin Auton Res · 2014
0.90
3
Bioinformatics screening of ETV4 transcription factor oncogenes and identifying small-molecular anticancer drugs.
PMID: 34757684
Chem Biol Drug Des · 2022
0.80
4
Effect of different chemical disinfectants on color stability of acrylic denture teeth.
PMID: 24417429
J Prosthodont · 2014
0.70
5
Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma.
PMID: 36920900
PLoS One · 2023
0.60