AGBL2
ATP/GTP Binding Protein Like 2
Gene Information Card
| Symbol | AGBL2 |
|---|---|
| Full Name | ATP/GTP Binding Protein Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 79841 ncbi.nlm.nih.gov/gene/79841 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q5VU57 |
| OMIM ID | 617869 |
| HGNC ID | 26147 |
| Aliases | CCP2, CCP5, FLJ10154, MGC13170 |
Description
AGBL2 (ATP/GTP Binding Protein Like 2) encodes a member of the cytosolic carboxypeptidase (CCP) family. The protein functions as a tubulin deglutamylase, removing polyglutamate side chains from tubulin and other proteins, thereby regulating microtubule stability and function. AGBL2 is involved in neuronal development, cell cycle progression, and has been implicated in various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of AGBL2 promotes cell proliferation and migration; associated with poor prognosis | COSMIC, ClinVar |
| Glioblastoma | AGBL2 upregulation correlates with tumor grade and stemness; may regulate microtubule dynamics in glioma cells | COSMIC, NCBI Gene |
| Neurodegenerative disorders | Dysregulation of tubulin deglutamylation by AGBL2 may contribute to neuronal dysfunction | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Ovary | 6.1 | Low |
| Breast | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 10.2 | Moderate expression |
| U87MG (glioblastoma) | 15.7 | High expression |
| HEK293 (embryonic kidney) | 7.1 | Low expression |
| SH-SY5Y (neuroblastoma) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.1873C>T (p.Arg625Trp) | Missense | <0.01% | Reported in ClinVar; uncertain significance |
| c.2140_2141insA (p.Thr714Asnfs*2) | Frameshift | <0.01% | Predicted loss of function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr714Asnfs*2) are predicted to truncate the protein, impairing carboxypeptidase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • metallocarboxypeptidase activity | • tubulin binding |
| • protein deglutamylation | • microtubule cytoskeleton organization |
| • cytoplasm | • cytosol |
Pathways
• Tubulin deglutamylation
• Microtubule dynamics
Protein Summary
AGBL2 is a 714-amino acid cytosolic carboxypeptidase that specifically removes polyglutamate chains from the C-terminal tails of tubulin and other substrates. It contains a conserved ATP/GTP-binding motif (P-loop) and a zinc-binding catalytic domain. The enzyme regulates microtubule stability, cell motility, and ciliary function. AGBL2 is widely expressed, with highest levels in brain and testis. Altered expression is linked to cancer progression and neurological conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGBL2 Knockout HEK293 Cell Line | EDJ-KQ12305 | Human | 79841 | Details Get a Quote |
| AGBL2 Knockout A-549 Cell Line | EDJ-KQ41127 | Human | 79841 | Details Get a Quote |
| AGBL2 Knockout HeLa Cell Line | EDJ-KQ41128 | Human | 79841 | Details Get a Quote |
| AGBL2 Knockout HCT 116 Cell Line | EDJ-KQ74170 | Human | 79841 | Details Get a Quote |
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