GNGT2 Gene
G protein subunit gamma transducin 2
Gene Information Card
| Symbol | GNGT2 |
|---|---|
| Full Name | G protein subunit gamma transducin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.1 |
| NCBI Gene ID | 2793 ncbi.nlm.nih.gov/gene/2793 |
| Ensembl ID | ENSG00000167083 |
| UniProt ID | P63218 |
| OMIM ID | 139191 |
| HGNC ID | 4412 |
| Aliases | GNGT2, GNGT2, GNGT2, GNGT2, GNGT2, GNGT2, GNGT2, GNGT2, GNGT2, GNGT2 |
Description
GNGT2 (G protein subunit gamma transducin 2) encodes the gamma subunit of cone-specific transducin, a heterotrimeric G protein that mediates phototransduction in cone photoreceptor cells. The gamma subunit is essential for proper assembly and function of the transducin complex, coupling light-activated cone opsins to downstream effectors such as cGMP phosphodiesterase. Mutations in GNGT2 are associated with autosomal recessive congenital stationary night blindness (CSNB) and cone-rod dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital stationary night blindness (CSNB) | Loss-of-function mutations impair cone transducin signaling, disrupting phototransduction in cone photoreceptors | ClinVar, OMIM |
| Cone-rod dystrophy | Defective GNGT2 leads to progressive degeneration of cone and rod photoreceptors | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | nTPM not available | High |
| Testis | nTPM not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Retinal cone cells | nTPM not available | High expression |
| Y79 retinoblastoma cell line | nTPM not available | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein synthesis |
| c.200_201del (p.Glu67fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent GNGT2 protein, disrupting cone transducin signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • phototransduction |
| • signal transducer activity | • GTPase activity |
| • heterotrimeric G-protein complex | • plasma membrane |
Pathways
• Phototransduction cascade (cone-specific)
• G alpha (s) signaling events
Protein Summary
GNGT2 is a 71-amino acid gamma subunit of the heterotrimeric G protein transducin, specifically expressed in cone photoreceptors. It forms a complex with Gαt2 (GNAT2) and Gβ3 (GNB3) to mediate light-induced activation of cGMP phosphodiesterase, leading to hyperpolarization of cone cells. The protein is anchored to the disc membrane via isoprenylation of its C-terminal CAAX motif.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNGT2 Knockout HEK293 Cell Line | EDJ-KQ803 | Human | 2793 | Details Get a Quote |
| GNGT2 Knockout HeLa Cell Line | EDJ-KQ53373 | Human | 2793 | Details Get a Quote |
| GNGT2 Knockout A-549 Cell Line | EDJ-KQ61849 | Human | 2793 | Details Get a Quote |
| GNGT2 Knockout HCT 116 Cell Line | EDJ-KQ70334 | Human | 2793 | Details Get a Quote |
