GNA14: G Protein Subunit Alpha 14
A key mediator in GPCR signaling and vascular development
Gene Information Card
| Symbol | GNA14 |
|---|---|
| Full Name | G protein subunit alpha 14 |
| Gene Type | protein coding |
| Chromosomal Location | 9q21.2 |
| NCBI Gene ID | 9630 ncbi.nlm.nih.gov/gene/9630 |
| Ensembl ID | ENSG00000156049 |
| UniProt ID | O95837 |
| OMIM ID | 604397 |
| HGNC ID | 4382 |
| Aliases | GNA14, G alpha-14 |
Description
GNA14 encodes the alpha subunit of the heterotrimeric G protein G14, a member of the Gq family. This protein mediates signaling from G protein-coupled receptors (GPCRs) to phospholipase C beta, leading to calcium mobilization and activation of protein kinase C. GNA14 is involved in vascular development and has been implicated in certain vascular malformations and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Capillary malformation-arteriovenous malformation 2 (CM-AVM2) | Activating mutations in GNA14 lead to constitutive activation of the Gq signaling pathway, promoting abnormal vascular development. | ClinVar, OMIM |
| Uveal melanoma | Somatic mutations in GNA14 (e.g., Q205L) activate the MAPK pathway, contributing to tumorigenesis. | COSMIC, NCBI |
| Sturge-Weber syndrome (rare association) | Postzygotic activating mutations in GNA14 have been reported in some cases, though GNAQ is more common. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Lung | 4.1 | Low |
| Liver | 3.0 | Low |
| Kidney | 5.8 | Medium |
| Testis | 7.9 | Medium |
| Skin | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.3 | High expression |
| HeLa | 8.7 | Medium expression |
| A549 | 6.1 | Medium expression |
| MCF7 | 4.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Q205L | Missense | Rare in general population; recurrent in uveal melanoma | Gain-of-function; constitutive activation of Gq signaling |
| R183C | Missense | Rare | Gain-of-function; associated with CM-AVM2 |
| R183H | Missense | Rare | Gain-of-function; associated with CM-AVM2 |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in GNA14.
Gain of Function (GOF)
Activating mutations (e.g., Q205L, R183C) lead to constitutive Gq signaling, promoting cell proliferation and vascular malformations.
Dominant Negative (DN)
Not described for GNA14.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity (GO:0003924) | • signal transducer activity (GO:0004871) |
| • G protein-coupled receptor signaling pathway (GO:0007186) | • GTP binding (GO:0005525) |
| • membrane (GO:0016020) | • G-protein beta/gamma-subunit complex binding (GO:0031683) |
Pathways
• GPCR downstream signaling (Gq family)
• Phospholipase C beta activation
• Calcium signaling pathway
• MAPK signaling cascade
Protein Summary
GNA14 encodes the alpha-14 subunit of heterotrimeric G proteins, belonging to the Gq family. The protein is 359 amino acids long and functions as a molecular switch in GPCR signaling. Upon receptor activation, it exchanges GDP for GTP and activates phospholipase C beta, leading to inositol trisphosphate production and calcium release. GNA14 is expressed in multiple tissues, with highest levels in brain and testis. Gain-of-function mutations are associated with vascular malformations and uveal melanoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNA14 Knockout HEK293 Cell Line | EDJ-KQ1610 | Human | 9630 | Details Get a Quote |
| GNA14 Knockout HeLa Cell Line | EDJ-KQ55212 | Human | 9630 | Details Get a Quote |
| GNA14 Knockout A-549 Cell Line | EDJ-KQ63695 | Human | 9630 | Details Get a Quote |
| GNA14 Knockout HCT 116 Cell Line | EDJ-KQ72156 | Human | 9630 | Details Get a Quote |
