GNG12
G Protein Subunit Gamma 12
Gene Information Card
| Symbol | GNG12 |
|---|---|
| Full Name | G Protein Subunit Gamma 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 55970 ncbi.nlm.nih.gov/gene/55970 |
| Ensembl ID | ENSG00000172380 |
| UniProt ID | Q9UBI6 |
| OMIM ID | 608891 |
| HGNC ID | 4411 |
| Aliases | GNG12, G protein gamma 12 |
Description
GNG12 encodes the gamma 12 subunit of heterotrimeric G proteins, which are critical mediators of G protein-coupled receptor (GPCR) signaling. The gamma subunit, together with beta subunits, forms the beta-gamma complex that modulates downstream effectors such as ion channels, adenylyl cyclases, and phospholipases. GNG12 is widely expressed and implicated in signal transduction, cell migration, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered GNG12 expression may influence GPCR-mediated signaling pathways affecting cell proliferation and migration. | NCBI Gene, COSMIC |
| Prostate cancer | GNG12 mutations and expression changes reported in tumor samples, potentially affecting androgen receptor signaling. | COSMIC, ClinVar |
| Schizophrenia | Genetic variants in GNG12 have been associated with schizophrenia risk in genome-wide association studies. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Lung | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| HeLa | 11.2 | Moderate expression |
| MCF7 | 9.8 | Moderate expression |
| A549 | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T | Missense | 0.02% | p.Thr34Met; potential impact on protein stability |
| c.205G>A | Missense | 0.01% | p.Gly69Arg; reported in COSMIC |
| c.312_313insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the G protein gamma domain.
Gain of Function (GOF)
Not well characterized; some missense variants may alter signaling kinetics.
Dominant Negative (DN)
Not reported for GNG12.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • heterotrimeric G-protein complex |
| • signal transduction | • GTPase activity |
| • plasma membrane |
Pathways
• GPCR downstream signaling
• cAMP signaling pathway
• Phospholipase C activation
Protein Summary
GNG12 is a 72-amino acid protein that forms part of the G protein beta-gamma dimer. It is essential for proper GPCR signaling, modulating effector proteins and influencing cellular responses. The protein is expressed in multiple tissues and is implicated in cancer and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNG12 Knockout HEK293 Cell Line | EDJ-KQ1217 | Human | 55970 | Details Get a Quote |
| GNG12 Knockout HCT 116 Cell Line | EDJ-KQ19186 | Human | 55970 | Details Get a Quote |
| GNG12 Knockout A-549 Cell Line | EDJ-KQ20542 | Human | 55970 | Details Get a Quote |
| GNG12 Knockout HeLa Cell Line | EDJ-KQ20544 | Human | 55970 | Details Get a Quote |
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