GNA13: G Protein Subunit Alpha 13
A key mediator of G protein-coupled receptor signaling in development and cancer
Gene Information Card
| Symbol | GNA13 |
|---|---|
| Full Name | G Protein Subunit Alpha 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.3 |
| NCBI Gene ID | 10672 ncbi.nlm.nih.gov/gene/10672 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q14344 |
| OMIM ID | 604406 |
| HGNC ID | 4381 |
| Aliases | G13, GNA-13, Galpha13 |
Description
GNA13 encodes the alpha subunit of the heterotrimeric G protein G13, which belongs to the G12/13 family. This protein mediates signaling from G protein-coupled receptors (GPCRs) to downstream effectors such as Rho guanine nucleotide exchange factors (RhoGEFs), regulating cytoskeletal remodeling, cell migration, and proliferation. GNA13 is involved in embryonic development, vascular function, and immune responses. Aberrant GNA13 signaling contributes to oncogenesis, particularly in diffuse large B-cell lymphoma, and to vascular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse large B-cell lymphoma (DLBCL) | GNA13 loss-of-function mutations impair RhoA signaling, promoting B-cell migration and dissemination | PMID: 24670654, COSMIC |
| Burkitt lymphoma | Recurrent GNA13 mutations disrupt G13-RhoA pathway, enhancing tumor cell dissemination | PMID: 24670654 |
| Hemangioma | GNA13 somatic mutations (e.g., p.Gln205Leu) activate RhoA signaling, driving vascular tumor formation | PMID: 27153397 |
| Kaposi sarcoma | GNA13 mutations identified in lesions, potentially contributing to endothelial cell proliferation | COSMIC, PMID: 27153397 |
| Primary pulmonary hypertension | GNA13 variants associated with altered vascular remodeling | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.5 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 11.7 | Moderate expression |
| K562 | 9.4 | Moderate expression |
| A549 | 7.8 | Low expression |
| HUVEC | 14.1 | High expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gln205Leu | Missense | Somatic (hemangioma) | Activating; enhances RhoA signaling |
| p.Arg200Cys | Missense | Somatic (DLBCL) | Loss-of-function; impairs RhoGEF interaction |
| p.Glu229Lys | Missense | Somatic (DLBCL) | Loss-of-function; reduced GTP binding |
| p.Arg200His | Missense | Somatic (DLBCL) | Loss-of-function; defective G13 signaling |
| p.Leu197Val | Missense | Somatic (Burkitt lymphoma) | Loss-of-function; altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Recurrent in DLBCL and Burkitt lymphoma; mutations in switch regions impair GTP binding and RhoGEF activation, leading to defective RhoA signaling and increased B-cell dissemination.
Gain of Function (GOF)
Observed in hemangioma; mutations such as p.Gln205Leu stabilize the active GTP-bound state, constitutively activating RhoA and promoting endothelial cell proliferation.
Dominant Negative (DN)
Not well-characterized for GNA13; some loss-of-function alleles may exert dominant-negative effects by sequestering Gβγ or competing with wild-type Gα13.
View complete mutation data:
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway (GO:0007186) | • GTPase activity (GO:0003924) |
| • GTP binding (GO:0005525) | • Rho guanyl-nucleotide exchange factor activity (GO:0005089) |
| • signal transduction (GO:0007165) | • cell migration (GO:0016477) |
| • actin cytoskeleton organization (GO:0030036) | • positive regulation of Rho protein signal transduction (GO:0035025) |
Pathways
• G12/13 signaling pathway (Reactome: R-HSA-416482)
• Rho GTPase cycle (Reactome: R-HSA-194840)
• GPCR downstream signaling (Reactome: R-HSA-388396)
• Signaling by GPCR (Reactome: R-HSA-372790)
• Development and migration of B cells (KEGG: hsa04662)
Protein Summary
GNA13 encodes the alpha-13 subunit of heterotrimeric G protein G13. This 377-amino-acid protein (UniProt Q14344) contains a conserved GTP-binding domain and switch regions that undergo conformational changes upon GTP binding. Gα13 couples to GPCRs such as thrombin, lysophosphatidic acid, and sphingosine-1-phosphate receptors. Its primary effector is the RhoGEF family (e.g., p115-RhoGEF, PDZ-RhoGEF, LARG), which activates RhoA to regulate actin dynamics, cell contraction, and gene expression. GNA13 is essential for embryonic angiogenesis and vascular integrity. In cancer, loss-of-function mutations in DLBCL disrupt RhoA activation, promoting lymphoma dissemination, while gain-of-function mutations in hemangioma drive vascular tumor growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNA13 Knockout HEK293 Cell Line | EDJ-KQ1454 | Human | 10672 | Details Get a Quote |
| GNA13 Knockout A-549 Cell Line | EDJ-KQ21009 | Human | 10672 | Details Get a Quote |
| GNA13 Knockout HCT 116 Cell Line | EDJ-KQ21010 | Human | 10672 | Details Get a Quote |
| GNA13 Knockout HeLa Cell Line | EDJ-KQ21011 | Human | 10672 | Details Get a Quote |
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