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GNGT2

gene
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Also known as GNG9

Summary

GNGT2 (G protein subunit gamma transducin 2, HGNC:4412) is a protein-coding gene on chromosome 17q21.32, encoding Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 (O14610). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.

Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 2793 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 14 total
  • MANE Select transcript: NM_001198754

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:4412
Approved symbolGNGT2
NameG protein subunit gamma transducin 2
Location17q21.32
Locus typegene with protein product
StatusApproved
AliasesGNG9
Ensembl geneENSG00000167083
Ensembl biotypeprotein_coding
OMIM139391
Entrez2793

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 13 protein_coding

ENST00000300406, ENST00000503070, ENST00000507680, ENST00000511277, ENST00000511673, ENST00000515635, ENST00000881955, ENST00000881956, ENST00000881957, ENST00000881958, ENST00000929494, ENST00000956806, ENST00000956807

RefSeq mRNA: 4 — MANE Select: NM_001198754 NM_001198754, NM_001198755, NM_001198756, NM_031498

CCDS: CCDS11545

Canonical transcript exons

ENST00000507680 — 4 exons

ExonStartEnd
ENSE000011094694920884549208954
ENSE000011928924920733949207444
ENSE000020386294921044449210574
ENSE000020456434920623749206882

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 90.18.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6346 / max 439.4216, expressed in 362 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
1667800.6408273
1667750.521312
1667810.2573137
1667760.06219
1667780.061412
1667770.047621
1667790.02949
2082380.01485

Top tissues by expression

239 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
granulocyteCL:000009490.18gold quality
leukocyteCL:000073884.61gold quality
monocyteCL:000057684.31gold quality
spleenUBERON:000210683.50gold quality
lymph nodeUBERON:000002979.99gold quality
bloodUBERON:000017878.32gold quality
vermiform appendixUBERON:000115478.10gold quality
caecumUBERON:000115375.26gold quality
mucosa of transverse colonUBERON:000499173.98gold quality
myocardiumUBERON:000234973.79gold quality
smooth muscle tissueUBERON:000113573.73gold quality
right lungUBERON:000216773.46gold quality
gall bladderUBERON:000211073.17gold quality
upper lobe of left lungUBERON:000895272.48gold quality
tibiaUBERON:000097972.47gold quality
rectumUBERON:000105272.14gold quality
apex of heartUBERON:000209871.22gold quality
upper lobe of lungUBERON:000894870.99gold quality
cerebellar vermisUBERON:000472070.96gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451170.62gold quality
vena cavaUBERON:000408770.16gold quality
spermCL:000001969.62gold quality
tonsilUBERON:000237268.99gold quality
small intestine Peyer’s patchUBERON:000345468.78gold quality
omental fat padUBERON:001041468.47gold quality
peritoneumUBERON:000235868.45gold quality
small intestineUBERON:000210868.40gold quality
heart left ventricleUBERON:000208468.15gold quality
parotid glandUBERON:000183168.13gold quality
cardiac ventricleUBERON:000208268.11gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-MTAB-11121yes1062.31
E-MTAB-7316yes1060.20
E-GEOD-98556yes288.69
E-ANND-3no1.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting GNGT2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-23B-5P99.9866.07587
HSA-MIR-6755-5P99.9565.59464
HSA-MIR-467999.7669.191229
HSA-MIR-1255A99.7468.09744
HSA-MIR-1255B-5P99.7468.16741
HSA-MIR-1296-3P99.7264.04636
HSA-MIR-766-5P99.4767.912225
HSA-MIR-516A-3P99.4667.961378
HSA-MIR-516B-3P99.4667.961378
HSA-MIR-7162-5P99.4668.081368
HSA-MIR-239299.4367.50708
HSA-MIR-190B-3P99.3368.291382
HSA-MIR-6731-5P99.2867.422375
HSA-MIR-808599.2867.562362
HSA-MIR-491-5P99.1365.981468
HSA-MIR-4802-5P98.9766.26833
HSA-MIR-6871-5P98.9066.67671
HSA-MIR-4709-3P98.8868.041594
HSA-MIR-797798.6566.182590
HSA-MIR-7155-5P98.6566.141290
HSA-MIR-6755-3P98.6166.90834
HSA-MIR-6878-5P98.4967.912142
HSA-MIR-4726-3P98.4963.891385
HSA-MIR-6873-5P98.4566.141417
HSA-MIR-6819-5P97.9666.591071
HSA-MIR-5571-3P97.8066.07640
HSA-MIR-30C-1-3P97.8066.361499
HSA-MIR-30C-2-3P97.8066.451499
HSA-MIR-6788-5P97.8066.411532
HSA-MIR-6737-5P97.7566.541044

Literature-anchored findings (GeneRIF, showing 5)

  • Recombinant Gbetagamma subunits were used to establish that the Gbeta(2)gamma(2) dimer can selectively reconstitute the inhibition of alpha(1H) channels in isolated membrane patches. (PMID:16973746)
  • Results identify novel functions of beta-arrestin1 in binding to the beta1gamma2 subunits of heterotrimeric G-proteins and promoting G(betagamma)-mediated Akt signalling for NF-kappaB activation. (PMID:18729826)
  • Survival analysis showed that G protein subunit gamma transducin 2 (GNGT2) was closely related to survival of esophageal cancer. Expression of GNGT2 was evaluated by quantitative real time polymerase chain reaction, and the results showed that GNGT2 expression was significantly upregulated in esophageal cancer patient samples and cell lines, and that GNGT2 could promote the proliferation of esophageal cancer cell lines. (PMID:31908393)
  • Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets. (PMID:33066754)
  • Gbetagamma translocation to the Golgi apparatus activates ARF1 to spatiotemporally regulate G protein-coupled receptor signaling to MAPK. (PMID:34022220)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriogngt2aENSDARG00000010680
danio_reriogngt2bENSDARG00000103543
mus_musculusGngt2ENSMUSG00000038811
rattus_norvegicusGngt2ENSRNOG00000076143
drosophila_melanogasterGgamma1FBGN0004921

Paralogs (11): GNG11 (ENSG00000127920), GNGT1 (ENSG00000127928), GNG5B (ENSG00000133136), GNG3 (ENSG00000162188), GNG8 (ENSG00000167414), GNG4 (ENSG00000168243), GNG12 (ENSG00000172380), GNG5 (ENSG00000174021), GNG7 (ENSG00000176533), GNG2 (ENSG00000186469), GNG10 (ENSG00000242616)

Protein

Protein identifiers

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 — O14610 (reviewed: O14610)

Alternative names: G gamma-C, G-gamma-8, G-gamma-9, Guanine nucleotide binding protein gamma transducing activity polypeptide 2

All UniProt accessions (2): D6RDH5, O14610

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

Subunit / interactions. G proteins are composed of 3 units, alpha, beta and gamma.

Subcellular location. Cell membrane.

Tissue specificity. Retinal cones.

Similarity. Belongs to the G protein gamma family.

RefSeq proteins (4): NP_001185683, NP_001185684, NP_001185685, NP_113686 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001770G-protein_gammaFamily
IPR015898G-protein_gamma-like_domDomain
IPR036284GGL_sfHomologous_superfamily

Pfam: PF00631

UniProt features (5 total): chain 1, propeptide 1, modified residue 1, lipid moiety-binding region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O14610-F190.340.68

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 66, 66

Function

Pathways and Gene Ontology

Reactome pathways

28 pathways

IDPathway
R-HSA-1296041Activation of G protein gated Potassium channels
R-HSA-202040G-protein activation
R-HSA-381676Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-392170ADP signalling through P2Y purinoceptor 12
R-HSA-392451G beta:gamma signalling through PI3Kgamma
R-HSA-392851Prostacyclin signalling through prostacyclin receptor
R-HSA-400042Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-4086398Ca2+ pathway
R-HSA-416476G alpha (q) signalling events
R-HSA-416482G alpha (12/13) signalling events
R-HSA-418217G beta:gamma signalling through PLC beta
R-HSA-418555G alpha (s) signalling events
R-HSA-418592ADP signalling through P2Y purinoceptor 1
R-HSA-418594G alpha (i) signalling events
R-HSA-418597G alpha (z) signalling events
R-HSA-420092Glucagon-type ligand receptors
R-HSA-428930Thromboxane signalling through TP receptor
R-HSA-432040Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-456926Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-500657Presynaptic function of Kainate receptors
R-HSA-6814122Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-8964315G beta:gamma signalling through BTK
R-HSA-8964616G beta:gamma signalling through CDC42
R-HSA-9009391Extra-nuclear estrogen signaling
R-HSA-9634597GPER1 signaling
R-HSA-9660821ADORA2B mediated anti-inflammatory cytokines production
R-HSA-9856530High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
R-HSA-997272Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

MSigDB gene sets: 234 (showing top): CREL_01, AP1_01, REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, REACTOME_ADRENALINE_NORADRENALINE_INHIBITS_INSULIN_SECRETION, REACTOME_POTASSIUM_CHANNELS, REACTOME_INWARDLY_RECTIFYING_K_CHANNELS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, GOBP_PHOTOTRANSDUCTION, GGGTGGRR_PAX4_03, PID_CONE_PATHWAY, IRF7_01, REACTOME_G_PROTEIN_ACTIVATION, BACH2_01, GOBP_RESPONSE_TO_RADIATION

GO Biological Process (3): G protein-coupled receptor signaling pathway (GO:0007186), phototransduction (GO:0007602), signal transduction (GO:0007165)

GO Molecular Function (2): GTPase activity (GO:0003924), G-protein beta-subunit binding (GO:0031681)

GO Cellular Component (3): heterotrimeric G-protein complex (GO:0005834), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-12 pathways:

CategoryPathways
GPCR downstream signalling5
Signal amplification3
Regulation of insulin secretion2
G-protein beta:gamma signalling2
G protein gated Potassium channels1
Opioid Signalling1
Platelet homeostasis1
Beta-catenin independent WNT signaling1
Class B/2 (Secretin family receptors)1
Aquaporin-mediated transport1
Platelet activation, signaling and aggregation1
Activation of kainate receptors upon glutamate binding1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
signal transduction2
G protein-coupled receptor activity1
detection of light stimulus1
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
ribonucleoside triphosphate phosphatase activity1
protein binding1
extrinsic component of cytoplasmic side of plasma membrane1
plasma membrane protein complex1
GTPase complex1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

1568 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GNGT2GNG4P50150876
GNGT2GNB4Q9HAV0813
GNGT2GNB3P16520786
GNGT2GNG13Q9P2W3780
GNGT2AOC2O75106778
GNGT2GNAT2P19087721
GNGT2PLCB2Q00722694
GNGT2GNB1P04697692
GNGT2GNAO1P09471671
GNGT2SUCLG2Q96I99668
GNGT2GNB2P11016652
GNGT2PDE6HQ13956649
GNGT2PDE6GP18545633
GNGT2GNB5O14775624
GNGT2ARR3P36575609

IntAct

15 interactions, top by confidence:

ABTypeScore
GNGT2GNB1psi-mi:“MI:0914”(association)0.350
GNGT2GNB2psi-mi:“MI:0914”(association)0.350
GNGT2GNB3psi-mi:“MI:0914”(association)0.350
GNGT2GNAI1psi-mi:“MI:0914”(association)0.350
GNGT2GNASpsi-mi:“MI:0914”(association)0.350
GNGT2Ntsr1psi-mi:“MI:0914”(association)0.350

BioGRID (15): GNGT2 (Biochemical Activity), GNGT2 (Affinity Capture-Western), GNB2 (Two-hybrid), GNB4 (Two-hybrid), GNB1 (Two-hybrid), GNGT2 (Cross-Linking-MS (XL-MS)), GNGT2 (Cross-Linking-MS (XL-MS)), GNGT2 (Cross-Linking-MS (XL-MS)), GNGT2 (Cross-Linking-MS (XL-MS)), GNGT2 (Cross-Linking-MS (XL-MS)), ZHX1 (Cross-Linking-MS (XL-MS)), GNB1 (Affinity Capture-Western), GNB2 (Affinity Capture-Western), GNB3 (Affinity Capture-Western), GNGT2 (Affinity Capture-Western)

ESM2 similar proteins: A0A804HLA8, O14610, O60262, O97564, P02698, P30671, P38040, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63077, P63078, P63210, P63211, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q4VT26, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61012, Q61016, Q61017, Q6CPB4

Diamond homologs: O14610, O60262, O97564, P02698, P30671, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63077, P63078, P63210, P63211, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61012, Q61016, Q61017, Q80SZ7, Q9CXP8, Q9DAS9, Q9NFZ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

14 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance11
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

525 predictions. Top by Δscore:

VariantEffectΔscore
17:49206878:GAAAT:Gacceptor_gain1.0000
17:49206879:AAAT:Aacceptor_gain1.0000
17:49206880:AAT:Aacceptor_gain1.0000
17:49206881:AT:Aacceptor_gain1.0000
17:49206882:TCTG:Tacceptor_loss1.0000
17:49206883:C:CCacceptor_gain1.0000
17:49207333:GCTCA:Gdonor_loss1.0000
17:49207334:CTCAC:Cdonor_loss1.0000
17:49207335:TCACC:Tdonor_loss1.0000
17:49207336:CA:Cdonor_loss1.0000
17:49207337:A:ACdonor_gain1.0000
17:49207337:A:Tdonor_loss1.0000
17:49207338:C:CAdonor_loss1.0000
17:49207338:C:CCdonor_gain1.0000
17:49206880:AATCT:Aacceptor_gain0.9900
17:49206881:ATCTG:Aacceptor_gain0.9900
17:49206882:TCTGC:Tacceptor_gain0.9900
17:49206883:CTGCG:Cacceptor_gain0.9900
17:49206886:C:CTacceptor_gain0.9900
17:49206887:G:Tacceptor_gain0.9900
17:49206892:C:CTacceptor_gain0.9900
17:49207361:T:TAdonor_gain0.9900
17:49206879:AAATC:Aacceptor_gain0.9800
17:49206894:C:CTacceptor_gain0.9800
17:49206895:A:Tacceptor_gain0.9800
17:49207275:T:TAdonor_gain0.9800
17:49207338:CCGG:Cdonor_gain0.9800
17:49207338:CCGGA:Cdonor_gain0.9800
17:49207440:TGATC:Tacceptor_gain0.9800
17:49207441:GATC:Gacceptor_gain0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000077593 (17:49211711 C>A), RS1000722379 (17:49205748 G>A,T), RS1001008774 (17:49207126 C>A,T), RS1001395315 (17:49208863 C>T), RS1001609271 (17:49211141 G>A), RS1001620648 (17:49211409 G>T), RS1001952509 (17:49212551 G>A), RS1002305988 (17:49209110 ACCTTG>A), RS1003977545 (17:49209758 C>T), RS1004122088 (17:49206235 C>G), RS1004246269 (17:49209986 A>G), RS1004429166 (17:49212448 G>T), RS1005514683 (17:49208741 T>C), RS1005987343 (17:49206914 T>C), RS1006262714 (17:49207222 C>A,T)

Disease associations

OMIM: gene MIM:139391 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

StudyTraitp-value
GCST001942_17Prostate cancer2.000000e-09
GCST008916_126Asthma2.000000e-15
GCST009391_1372Metabolite levels3.000000e-06
GCST010002_125Refractive error1.000000e-44
GCST012189_16Systolic blood pressure and diastolic blood pressure (bivariate analysis)7.000000e-06
GCST012190_11Body mass index and diastolic blood pressure (bivariate analysis)1.000000e-05

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0010367lysophosphatidylethanolamine 18:0 measurement
EFO:0006335systolic blood pressure
EFO:0006336diastolic blood pressure
EFO:0004340body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

ChemicalActions (top 5)PubMed papers
GSK-J4decreases expression1
triphenyl phosphateaffects expression1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
Arsenicincreases expression1
Benzo(a)pyreneincreases methylation1
Diurondecreases expression1
Formaldehydedecreases expression1
Silicon Dioxideincreases expression1
Aflatoxin B1increases methylation1
Okadaic Acidincreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot