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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SH3GL1
SH3 domain containing GRB2 like 1, endophilin A2
Chromosome 19 · 19p13.3
NCBI Gene: 6455Ensembl: ENSG00000141985.10HGNC: HGNC:10830UniProt: Q6FGM0
123PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmcytosolprotein bindingcadherin bindinglisteriosisbreast ductal adenocarcinomacarcinoma of liver and intrahepatic biliary tractlymphoid neoplasm
✦AI Summary

SH3GL1 encodes endophilin A2, a membrane-associated protein that plays crucial roles in endocytosis and cellular signaling across multiple biological contexts. The protein functions as a key regulator of membrane dynamics, facilitating endocytosis and protein recycling processes 1. In immune regulation, SH3GL1 modulates T cell activation thresholds and affects T cell receptor internalization, with deficiency providing protection from autoimmune arthritis in rodent models 2. The protein also regulates B cell responses, as endophilin A2 deficiency impairs antibody production and switched memory B cell development in humans 3. In cancer biology, SH3GL1 demonstrates oncogenic properties through multiple mechanisms: it promotes cell survival by inhibiting ferroptosis via FTH1 regulation in diffuse large B-cell lymphoma 4, facilitates immune escape by enhancing B7-H3 recycling in non-small cell lung cancer 1, and drives osteosarcoma progression through P130cas phosphorylation and Akt/GSK-3β/FAK signaling pathways 5. The protein serves as a biomarker, with elevated expression correlating with poor prognosis in various cancers and eliciting autoantibody responses specifically in low-grade gliomas 6. These diverse functions establish SH3GL1 as a critical regulator of membrane trafficking, immune responses, and cellular survival mechanisms.

Sources cited
1
SH3GL1 facilitates endocytosis and B7-H3 protein recycling, promoting immune escape in non-small cell lung cancer
PMID: 40874628
2
SH3GL1 regulates T cell activation thresholds and T cell receptor internalization, with deficiency protecting from autoimmune arthritis
PMID: 33504785
3
Endophilin A2 deficiency impairs antibody production and switched memory B cell development in humans
PMID: 39499372
4
SH3GL1 promotes cell survival by inhibiting FTH1-mediated ferroptosis in diffuse large B-cell lymphoma
PMID: 40038872
5
SH3GL1 drives osteosarcoma progression through P130cas phosphorylation and Akt/GSK-3β/FAK signaling pathways
PMID: 28702842
6
Elevated SH3GL1 expression correlates with glioma progression and elicits specific autoantibody responses in low-grade gliomas
PMID: 23050879
Disease Associationsⓘ20
listeriosisOpen Targets
0.46Moderate
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
non-small cell lung carcinomaOpen Targets
0.28Weak
multiple myelomaOpen Targets
0.28Weak
acute myeloid leukemiaOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
hepatocellular carcinomaOpen Targets
0.28Weak
esophageal adenocarcinomaOpen Targets
0.28Weak
brain glioblastomaOpen Targets
0.28Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.28Weak
gastric adenocarcinomaOpen Targets
0.28Weak
kidney neoplasmOpen Targets
0.28Weak
lung carcinomaOpen Targets
0.28Weak
ovarian serous adenocarcinomaOpen Targets
0.28Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EGFRProtein interaction100%PDCD6IPProtein interaction92%SYNJ2Protein interaction92%CBLCProtein interaction91%CBLBProtein interaction89%LRRK2Protein interaction87%
Tissue Expression6 tissues
Liver
100%
Ovary
99%
Lung
92%
Bone Marrow
82%
Brain
77%
Heart
38%
Gene Interaction Network
Click a node to explore
SH3GL1EGFRPDCD6IPSYNJ2CBLCCBLBLRRK2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6FGM0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.11Tolerant
Observed/Expected LoF0.43 [0.30–0.62]
RankingsWhere SH3GL1 stands among ~20K protein-coding genes
  • #3,837of 20,598
    Most Researched123 · top quartile
  • #4,323of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedSH3GL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SH3GL1-activated FTH1 inhibits ferroptosis and confers doxorubicin resistance in diffuse large B-cell lymphoma.
PMID: 40038872
Clin Transl Med · 2025
1.00
2
A Feedback Loop Between Fatty Acid Metabolism and Epigenetics in Clear Cell Renal Carcinoma.
PMID: 40391655
Adv Sci (Weinh) · 2025
0.90
3
Endophilin A2 deficiency protects rodents from autoimmune arthritis by modulating T cell activation.
PMID: 33504785
Nat Commun · 2021
0.80
4
Essential role of SH3GL1 in interleukin-6(IL-6)- and vascular endothelial growth factor (VEGF)-triggered p130
PMID: 28702842
Hum Cell · 2017
0.70
5
Endophilin A2 Deficiency Impairs Antibody Production in Humans.
PMID: 39499372
J Clin Immunol · 2024
0.60