SH3GL2 Gene - Endophilin A1
SH3 Domain Containing GRB2 Like 2, Endophilin A1
Gene Information Card
| Symbol | SH3GL2 |
|---|---|
| Full Name | SH3 Domain Containing GRB2 Like 2, Endophilin A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p22.2 |
| NCBI Gene ID | 6456 ncbi.nlm.nih.gov/gene/6456 |
| Ensembl ID | ENSG00000107242 |
| UniProt ID | Q99962 |
| OMIM ID | 604446 |
| HGNC ID | 10831 |
| Aliases | SH3P4, SH3GL2, endophilin-A1, EEN-B1 |
Description
SH3GL2 (SH3 Domain Containing GRB2 Like 2) encodes endophilin A1, a protein involved in synaptic vesicle endocytosis, membrane dynamics, and intracellular signaling. It contains an N-terminal BAR domain and a C-terminal SH3 domain, mediating interactions with dynamin and synaptojanin. The gene is implicated in neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Reduced expression of SH3GL2 may contribute to tumor progression through altered endocytosis and signaling. | COSMIC, ClinVar |
| Lung cancer | Mutations and copy number alterations in SH3GL2 are observed, potentially affecting cell proliferation. | COSMIC |
| Schizophrenia | Genetic variants in SH3GL2 have been associated with synaptic dysfunction. | OMIM, ClinVar |
| Autism spectrum disorder | Rare variants in SH3GL2 may disrupt synaptic vesicle recycling. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Testis | 12.8 | Medium |
| Lung | 6.5 | Low |
| Breast | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 38.7 | High expression |
| A549 (lung carcinoma) | 7.2 | Moderate expression |
| MCF7 (breast carcinoma) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | missense | <0.01% | Unknown functional impact |
| c.1042C>T (p.Arg348Trp) | missense | <0.01% | Potential loss of SH3 domain function |
| c.1234_1235del (p.Lys412Glufs*3) | frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in SH3GL2 are predicted to cause loss of endophilin A1 function, impairing synaptic vesicle recycling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SH3GL2.
Dominant Negative (DN)
Missense mutations in the SH3 domain may act in a dominant-negative manner by disrupting protein-protein interactions.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle endocytosis | • clathrin-dependent endocytosis |
| • lipid binding | • protein domain specific binding |
| • SH3 domain binding | • membrane invagination |
Pathways
• Synaptic vesicle cycle (KEGG: hsa04721)
• Endocytosis (KEGG: hsa04144)
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856825)
Protein Summary
Endophilin A1 (SH3GL2) is a 352-amino acid protein with a BAR domain that senses and induces membrane curvature, and an SH3 domain that recruits dynamin and synaptojanin. It is essential for efficient synaptic vesicle recycling and is highly expressed in the brain. Altered expression or mutations are linked to neurological and neoplastic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3GL2 Knockout HEK293 Cell Line | EDJ-KQ5745 | Human | 6456 | Details Get a Quote |
| SH3GL2 Knockout HeLa Cell Line | EDJ-KQ29147 | Human | 6456 | Details Get a Quote |
| SH3GL2 Knockout A-549 Cell Line | EDJ-KQ62947 | Human | 6456 | Details Get a Quote |
| SH3GL2 Knockout HCT 116 Cell Line | EDJ-KQ71419 | Human | 6456 | Details Get a Quote |
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