GNA15 Gene: Structure, Function, and Clinical Significance
A comprehensive guide to the GNA15 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | GNA15 |
|---|---|
| Full Name | G protein subunit alpha 15 |
| Gene Type | protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 2769 ncbi.nlm.nih.gov/gene/2769 |
| Ensembl ID | ENSG00000160588 |
| UniProt ID | P30679 |
| OMIM ID | 139314 |
| HGNC ID | 4383 |
| Aliases | GNA16, G alpha 15, G protein alpha-15 |
Description
GNA15 encodes the alpha subunit of the heterotrimeric G protein Gq class. It is primarily expressed in hematopoietic cells and mediates signal transduction from G protein-coupled receptors (GPCRs) to downstream effectors such as phospholipase C beta. GNA15 is involved in calcium mobilization and regulation of various cellular processes including proliferation, differentiation, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hematologic Malignancies | GNA15 mutations may lead to constitutive activation of downstream signaling pathways, promoting cell proliferation and survival. | COSMIC database lists GNA15 mutations in leukemia and lymphoma samples. |
| Uveal Melanoma | GNA15 mutations (e.g., Q212L) can activate the MAPK pathway, contributing to tumorigenesis. | COSMIC and literature reports (e.g., Van Raamsdonk et al., 2010) identify GNA15 mutations in uveal melanoma. |
| Inflammatory Diseases | GNA15 is involved in immune cell signaling; dysregulation may contribute to chronic inflammation. | Expression studies show high GNA15 in immune cells; functional studies link it to inflammatory responses. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 10.2 | Medium |
| Spleen | 8.5 | Medium |
| Lymph Node | 7.8 | Medium |
| Blood | 6.9 | Low |
| Lung | 2.1 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 12.5 | High expression |
| HL-60 (promyeloblast) | 11.3 | High expression |
| MOLT-4 (T-cell leukemia) | 9.8 | Medium expression |
| A549 (lung carcinoma) | 1.2 | Low expression |
| HeLa (cervical carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Q212L | Missense | Rare (<0.1%) | Gain-of-function; constitutive activation of downstream signaling. |
| R60C | Missense | Rare | Potential loss-of-function; impaired GPCR coupling. |
| D130N | Missense | Rare | Uncertain; may affect GTPase activity. |
| Splice site variant | Splice | Rare | May lead to truncated protein; loss-of-function. |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair GTP binding or hydrolysis, or disrupt receptor coupling, leading to reduced signaling.
Gain of Function (GOF)
Mutations that stabilize the active GTP-bound state, causing constitutive activation of downstream pathways (e.g., Q212L).
Dominant Negative (DN)
Mutations that produce a protein that interferes with wild-type GNA15 function, often by sequestering GPCRs or downstream effectors.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • GTPase activity |
| • Signal transduction | • Calcium-mediated signaling |
| • Phospholipase C activation | • Heterotrimeric G-protein complex |
Pathways
• GPCR downstream signaling
• Phospholipase C beta pathway
• Calcium signaling pathway
• MAPK signaling pathway
Protein Summary
GNA15 is a 374-amino acid protein that belongs to the Gq family of G protein alpha subunits. It is predominantly expressed in hematopoietic tissues and plays a critical role in GPCR-mediated signal transduction. Upon receptor activation, GNA15 exchanges GDP for GTP and activates phospholipase C beta, leading to inositol trisphosphate production and intracellular calcium release. GNA15 is involved in immune responses and has been implicated in certain cancers when mutated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNA15 Knockout HEK293 Cell Line | EDJ-KQ1611 | Human | 2769 | Details Get a Quote |
| GNA15 Knockout HeLa Cell Line | EDJ-KQ53365 | Human | 2769 | Details Get a Quote |
| GNA15 Knockout A-549 Cell Line | EDJ-KQ61841 | Human | 2769 | Details Get a Quote |
| GNA15 Knockout HCT 116 Cell Line | EDJ-KQ70326 | Human | 2769 | Details Get a Quote |
