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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2780
Gene name	G protein subunit alpha transducin 2
Gene symbol	GNAT2
Synonyms (NCBI Gene)	ACHM4GNATCHG1D
Chromosome	1
Chromosome location	1p13.3
Summary	Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434585	G>A	Pathogenic	Stop gained, coding sequence variant
rs146606352	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs397515384	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs745308973	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs748981899	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1240543072	A>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1268228697	CTT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1403825722	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553226355	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553226581	C>G	Likely-pathogenic	Intron variant
rs1557917535	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1557917899	->TTGA	Pathogenic	Coding sequence variant, frameshift variant
rs1557918544	A>G	Pathogenic	Splice donor variant
rs1557918638	T>G	Pathogenic	Splice acceptor variant
rs1557918911	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1557920291	TTCAGCA>ATACAG	Pathogenic	Coding sequence variant, frameshift variant
rs1570562309	C>T	Pathogenic	Coding sequence variant, missense variant
rs1570565168	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021422	hsa-miR-9-5p	Microarray	17612493
MIRT023994	hsa-miR-1-3p	Proteomics;Microarray	18668037

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001580	Process	Detection of chemical stimulus involved in sensory perception of bitter taste	IBA
GO:0001580	Process	Detection of chemical stimulus involved in sensory perception of bitter taste	IEA
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001750	Component	Photoreceptor outer segment	IBA
GO:0001750	Component	Photoreceptor outer segment	IDA	2534964
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	IBA
GO:0001917	Component	Photoreceptor inner segment	IDA	2534964
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	NAS	1936270
GO:0005737	Component	Cytoplasm	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	NAS	1936270, 2534964
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	2534964
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	NAS	2534964
GO:0007602	Process	Phototransduction	IEA
GO:0007602	Process	Phototransduction	NAS	2534964
GO:0007632	Process	Visual behavior	IEA
GO:0008020	Function	G protein-coupled photoreceptor activity	NAS	2534964
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0009583	Process	Detection of light stimulus	IEA
GO:0009584	Process	Detection of visible light	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042622	Component	Photoreceptor outer segment membrane	ISS
GO:0042670	Process	Retinal cone cell differentiation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0045202	Component	Synapse	IEA
GO:0046549	Process	Retinal cone cell development	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048771	Process	Tissue remodeling	IEA
GO:0048877	Process	Homeostasis of number of retina cells	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	12077706
GO:0051938	Process	L-glutamate import	IEA
GO:0060221	Process	Retinal rod cell differentiation	IEA
GO:0097719	Process	Neural tissue regeneration	IEA
GO:0120302	Process	Background adaptation	IEA
GO:0150103	Process	Reactive gliosis	IEA
GO:1904390	Process	Cone retinal bipolar cell differentiation	IEA

MIM	HGNC	e!Ensembl
139340	4394	ENSG00000134183

P19087

Protein name

Guanine nucleotide-binding protein G(t) subunit alpha-2 (Transducin alpha-2 chain)

Protein function

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between r

PDB

6N84 , 6N85

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00503	G-alpha	13 → 343	G-protein alpha subunit	Domain

Tissue specificity

TISSUE SPECIFICITY: Retinal rod outer segment.

Sequence

MGSGASAEDKELAKRSKELEKKLQEDADKEAKTVKLLLLGAGESGKSTIVKQMKIIHQDG
YSPEECLEFKAIIYGNVLQSILAIIRAMTTLGIDYAEPSCADDGRQLNNLADSIEEGTMP
PELVEVIRRLWKDGGVQACFERAAEYQLNDSASYYLNQLERITDPEYLPSEQDVLRSRVK
TTGIIETKFSVKDLNFRMFDVGGQRSERKKWIHCFEGVTCIIFCAALSAYDMVLVEDDEV
NRMHESLHLFNSICNHKFFAATSIVLFLNKKDLFEEKIKKVHLSICFPEYDGNNSYDDAG
NYIKSQFLDLNMRKDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF

Sequence length

354

Interactions

View interactions

	KEGG		Reactome
	Phototransduction		PLC beta mediated events G-protein activation Ca2+ pathway G alpha (i) signalling events Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Likely pathogenic	rs1553226355	RCV000505046
Achromatopsia	Pathogenic	rs745308973, rs1557918638	RCV003483692 RCV001199475
Achromatopsia 4	Pathogenic; Likely pathogenic	rs121434585, rs2101121827, rs745308973, rs1557917535, rs748981899, rs1557917899, rs1557918619, rs1557918635, rs1557918911, rs1403825722, rs1557920291, rs146606352, rs1557918544, rs1557918638, rs1570562309	RCV000017273 RCV000017274 RCV000625933 RCV000761412 RCV000761410 RCV000761407 RCV000761403 RCV000761402 RCV000761400 RCV000761399 RCV000761396 RCV000761395 RCV000761405 RCV000761401 RCV001002705
Cone dystrophy	Pathogenic	rs1557918619	RCV001199818
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1234568897, rs1557918635, rs1557918544, rs1649583816	RCV004817095 RCV004817972 RCV001074059 RCV001073745

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
GNAT2-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs41280330, rs183147259	RCV003927658 RCV003979434
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs551776784	RCV005891454

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achromatopsia 3	Associate	32203983
Color Vision Defects	Associate	12077706, 12205108, 18636117, 22901948, 25277229, 31237654, 32203983, 32913385, 34360608, 36980963, 37372476
Cone Dystrophy	Associate	12205108, 14609822
Cone Rod Dystrophies	Associate	15094710
Myopia	Associate	36980963
Nystagmus Pathologic	Associate	14609822, 32203983
Obesity	Associate	23563607
Retinal Cone Dystrophy 1	Associate	12205108
Retinal Dystrophies	Associate	12205108
Vision Disorders	Associate	14609822, 32203983

GNAT2 (G protein subunit alpha transducin 2)