Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2793
Gene name	G protein subunit gamma transducin 2
Gene symbol	GNGT2
Synonyms (NCBI Gene)	G-GAMMA-8G-GAMMA-CGNG9GNGT8HG3I
Chromosome	17
Chromosome location	17q21.32
Summary	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. S

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018854	hsa-miR-335-5p	Microarray	18185580

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	IDA	10570481
GO:0003924	Function	GTPase activity	NAS	9286705
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IDA	10570481
GO:0005834	Component	Heterotrimeric G-protein complex	IEA
GO:0005834	Component	Heterotrimeric G-protein complex	NAS	9286705
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	9286705
GO:0007602	Process	Phototransduction	NAS	9286705
GO:0016020	Component	Membrane	IEA
GO:0031681	Function	G-protein beta-subunit binding	IBA
GO:0031681	Function	G-protein beta-subunit binding	IEA

MIM	HGNC	e!Ensembl
139391	4412	ENSG00000167083

O14610

Protein name

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 (G gamma-C) (G-gamma-8) (G-gamma-9) (Guanine nucleotide binding protein gamma transducing activity polypeptide 2)

Protein 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 prote

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00631	G-gamma	5 → 69	GGL domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Retinal cones.

Sequence

MAQDLSEKDLLKMEVEQLKKEVKNTRIPISKAGKEIKEYVEAQAGNDPFLKGIPEDKNPF
KEKGGCLIS

Sequence length

Interactions

View interactions

	KEGG		Reactome
	Ras signaling pathway Chemokine signaling pathway Hormone signaling PI3K-Akt signaling pathway Apelin signaling pathway Circadian entrainment Retrograde endocannabinoid signaling Glutamatergic synapse Cholinergic synapse Serotonergic synapse GABAergic synapse Dopaminergic synapse Relaxin signaling pathway Morphine addiction Alcoholism Human cytomegalovirus infection Kaposi sarcoma-associated herpesvirus infection Human immunodeficiency virus 1 infection Pathways in cancer		Activation of G protein gated Potassium channels G-protein activation Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ADP signalling through P2Y purinoceptor 12 G beta:gamma signalling through PI3Kgamma Prostacyclin signalling through prostacyclin receptor Adrenaline,noradrenaline inhibits insulin secretion Ca2+ pathway G alpha (q) signalling events G alpha (12/13) signalling events G beta:gamma signalling through PLC beta G alpha (s) signalling events ADP signalling through P2Y purinoceptor 1 G alpha (i) signalling events G alpha (z) signalling events Glucagon-type ligand receptors Thromboxane signalling through TP receptor Vasopressin regulates renal water homeostasis via Aquaporins Thrombin signalling through proteinase activated receptors (PARs) Presynaptic function of Kainate receptors Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding G beta:gamma signalling through BTK G beta:gamma signalling through CDC42 Extra-nuclear estrogen signaling ADORA2B mediated anti-inflammatory cytokines production Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Asthma	Associate	33066754	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cysts	Associate	33943042	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Stimulate	31908393	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Associate	32068233	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	38066059	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	24136929	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	23773523	★★★★★ ★☆☆☆☆ Found in Text Mining only

GNGT2 (G protein subunit gamma transducin 2)