GABARAPL2 Gene - GABA Type A Receptor Associated Protein Like 2
A comprehensive guide to GABARAPL2, including gene information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | GABARAPL2 |
|---|---|
| Full Name | GABA type A receptor associated protein like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.3 |
| NCBI Gene ID | 11345 ncbi.nlm.nih.gov/gene/11345 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | P60520 |
| OMIM ID | 607452 |
| HGNC ID | 13291 |
| Aliases | GATE16, GEF2, MAP1LC3C, ATG8, GABARAPL2 |
Description
GABARAPL2 (GABA type A receptor associated protein like 2) is a protein-coding gene that belongs to the ATG8 family of ubiquitin-like proteins. It plays a critical role in autophagy, specifically in autophagosome formation and maturation, by mediating the conjugation of phosphatidylethanolamine to autophagosomal membranes. GABARAPL2 also interacts with GABA type A receptors and is involved in intracellular trafficking and membrane fusion events.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of autophagy; altered GABARAPL2 expression may promote tumorigenesis | PubMed, COSMIC |
| Neurodegenerative disorders | Impaired autophagy contributes to protein aggregation; GABARAPL2 involved in autophagic clearance | PubMed, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | Medium |
| Liver | 12.3 | Medium |
| Kidney | 15.7 | Medium |
| Heart | 8.9 | Low |
| Lung | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical cancer cell line |
| HEK293 | 19.4 | Embryonic kidney cell line |
| A549 | 14.6 | Lung cancer cell line |
| MCF7 | 11.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in GABARAPL2 impair autophagy, leading to accumulation of damaged organelles and proteins.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression may enhance autophagy.
Dominant Negative (DN)
Dominant-negative effects have not been reported for GABARAPL2.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • protein transport |
| • membrane fusion | • GABA receptor binding |
| • ubiquitin-like protein conjugation |
Pathways
• Autophagy - animal
• LC3/GABARAP conjugation
Protein Summary
GABARAPL2 (GATE16) is a 117-amino acid protein (13.6 kDa) that localizes to autophagosomal membranes. It contains a ubiquitin-like domain and is essential for autophagosome elongation and closure. The protein interacts with ATG3, ATG7, and GABA type A receptors, linking autophagy to neurotransmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABARAPL2 Knockout HEK293 Cell Line | EDJ-KQ51066 | Human | 11345 | Details Get a Quote |
| GABARAPL2 Knockout HeLa Cell Line | EDJ-KQ55636 | Human | 11345 | Details Get a Quote |
| GABARAPL2 Knockout A-549 Cell Line | EDJ-KQ64134 | Human | 11345 | Details Get a Quote |
| GABARAPL2 Knockout HCT 116 Cell Line | EDJ-KQ72579 | Human | 11345 | Details Get a Quote |
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