GABRP
Gamma-aminobutyric acid type A receptor subunit pi
Gene Information Card
| Symbol | GABRP |
|---|---|
| Full Name | Gamma-aminobutyric acid type A receptor subunit pi |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.1 |
| NCBI Gene ID | 2568 ncbi.nlm.nih.gov/gene/2568 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | O00591 |
| OMIM ID | 602994 |
| HGNC ID | 4084 |
| Aliases | MGC119114, MGC119115 |
Description
GABRP encodes the pi (π) subunit of the gamma-aminobutyric acid type A (GABA-A) receptor, a ligand-gated chloride ion channel. This subunit is predominantly expressed in epithelial tissues and is implicated in cancer cell proliferation and migration. Unlike other GABA-A subunits, GABRP is not highly expressed in the central nervous system but is found in peripheral tissues such as breast, lung, and pancreas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of GABRP promotes tumor growth and metastasis via PI3K/AKT signaling | PMID: 25691811 |
| Pancreatic Cancer | GABRP upregulation correlates with poor prognosis and increased cell invasion | PMID: 29367642 |
| Lung Adenocarcinoma | GABRP expression is associated with epithelial-mesenchymal transition (EMT) | PMID: 31019238 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 nTPM | Medium |
| Pancreas | 8.3 nTPM | Low |
| Lung | 6.1 nTPM | Low |
| Prostate | 4.7 nTPM | Low |
| Brain | 0.2 nTPM | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 nTPM | High expression |
| PANC-1 (pancreatic cancer) | 9.8 nTPM | Moderate expression |
| A549 (lung cancer) | 7.4 nTPM | Low expression |
| HEK293 (embryonic kidney) | 0.5 nTPM | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% | Unknown functional impact |
| c.457G>A (p.Val153Ile) | Missense | 0.005% | Reported in COSMIC as somatic in breast cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function through increased signaling.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GABAergic synapse (KEGG: hsa04727)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
The GABA-A receptor pi subunit (GABRP) is a 437-amino acid protein with four transmembrane domains. It forms heteropentameric chloride channels when co-expressed with other GABA-A subunits. Unlike most GABA-A subunits, GABRP is not widely expressed in the brain but is found in epithelial tissues, where it modulates cell proliferation and migration. Its overexpression in several cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRP Knockout HEK293 Cell Line | EDJ-KQ2644 | Human | 2568 | Details Get a Quote |
| GABRP Knockout HeLa Cell Line | EDJ-KQ53298 | Human | 2568 | Details Get a Quote |
| GABRP Knockout A-549 Cell Line | EDJ-KQ61780 | Human | 2568 | Details Get a Quote |
| GABRP Knockout HCT 116 Cell Line | EDJ-KQ70262 | Human | 2568 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
