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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GNGT1 Gene

protein-coding GIFtS: 61
GCID: GC07P093180

guanine nucleotide binding protein (G protein), gamma transducing...

Explore 7 diseases affiliated with
GNGT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Guanine Nucleotide Binding Protein (G Protein), Gamma Transducing Activity Polypeptide 1¹ ²
GNG1¹ ²
Transducin Gamma Chain² ³
Guanine Nucleotide-Binding Protein G(T) Subunit Gamma-T1²

External Ids:	HGNC: 4411¹	Entrez Gene: 2792²	Ensembl: ENSG00000127928⁷	OMIM: 189970⁵	UniProtKB: P63211³

Export aliases for GNGT1 gene to outside databases

Previous GC identifers: GC07P092071 GC07P093114 GC07P093147 GC07P093373 GC07P088143

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GNGT1:

Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by

transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found specifically in

rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine monophosphate)

phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of transducin (Hurley et

al., 1984 (PubMed 6438626); Scherer et al., 1996 (PubMed 8661128)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211

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

summary for GNGT1:

Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein

contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand-receptor binding

results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of

second messenger signalling cascades. There are several types of Galpha proteins; in addition, some

Gbetagamma subunits have active functions. Gbetagamma coupled to H1 receptors can activate PLA2 and

Gbetagamma coupled to M1 receptors can activate KIR channels.

Gene Wiki entry for GNGT1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GNGT1 gene promoter:
ER-alpha Nkx3-1 STAT5B Nkx3-1 v4 FOXD1 Nkx3-1 v1 POU3F2 GATA-1 Nkx3-1 v2 Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see first 1): GNGT1 promoter sequences (S715398 S715602 S716800)

Search SABiosciences Chromatin IP Primers for GNGT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNGT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.3 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.3

GNGT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNGT1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P093180: view genomic region (about GC identifiers)

Start:	93,220,885 bp from pter	End:	93,540,577 bp from pter
Size:	319,693 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 92,864,986-92,869,650

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211 (See protein sequence)

Recommended Name: Guanine nucleotide-binding protein G(T) subunit gamma-T1 precursor

Size: 74 amino acids; 8496 Da

Subunit: G proteins are composed of 3 units, alpha, beta and gamma

Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)

Secondary accessions: A4D1H2 O43835 Q08447 Q16026

Explore the universe of human proteins at neXtProt for GNGT1: NX_P63211

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P63211

GNGT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_068774.1

ENSEMBL proteins:

ENSP00000395857 ENSP00000248572 ENSP00000388777 ENSP00000395756 ENSP00000401781

Reactome Protein details: P63211
Human Recombinant Protein Products for GNGT1:

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	Novus Biologicals GNGT1 Protein Novus Biologicals GNGT1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001750	photoreceptor outer segment	IEA	--
GO:0001917	photoreceptor inner segment	IEA	--
GO:0005834	heterotrimeric G-protein complex	IEA	--
GO:0005886	plasma membrane	TAS	--

GNGT1 for ontologies About GeneDecksing

GNGT1 Antibody Products:

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Assay Products for GNGT1:

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	GenScript Custom Assay Services for GNGT1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GNGT1 for domains About GeneDecksing

2 InterPro domains/families:

IPR001770 Gprotein-gamma

IPR015898 G-protein_gamma-like_dom

Graphical View of Domain Structure for InterPro Entry P63211

ProtoNet protein and cluster: P63211

UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211

Similarity: Belongs to the G protein gamma family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: GBG1_HUMAN, P63211

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

Genatlas biochemistry entry for GNGT1:

guanine nucleotide binding protein (G protein),gamma 1 subunit,retinal rod phosphoreceptor

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	TAS	8661128
GO:0004871	signal transducer activity	IEA	--

GNGT1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for GNGT1:

Synthetic lethal with Ras

3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Gngt1):

homeostasis/metabolism

nervous system

vision/eye

GNGT1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Gngt1^tm1Ogk for GNGT1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GNGT1

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GNGT1
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		SwitchGear 3'UTR luciferase reporter plasmid: GNGT1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for GNGT1
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: GNGT1 (NM_021955)
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for GNGT1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/63 super-pathways (see all 63) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

G beta:gamma signalling through PLC beta

8/12 pathways (see all 12)
G beta:gamma signalling through PLC beta	1.00	G beta:gamma signalling through PI3Kgamma	0.61
Presynaptic function of Kainate receptors	0.95	Inhibition of Insulin Secretion by Adrenaline/Noradrenaline	0.55
Prostacyclin signalling through prostacyclin receptor	0.77	G-protein activation	0.55
G-protein beta:gamma signalling	0.71	Glucagon-type ligand receptors	0.52

Development Angiotensin activation of ERK

8/9 pathways (see all 9)
Development Angiotensin activation of ERK	1.00	Development G-Proteins mediated regulation MARK-ERK signaling	0.66
Development_Angiotensin activation of ERK	0.98	Development_EDNRB signaling	0.54
Development_ACM2 and ACM4 activation of ERK	0.74	Development EDNRB signaling	0.54
Development ACM2 and ACM4 activation of ERK	0.74	Cholinergic synapse	0.30

Development_A3 receptor signaling

Development_A3 receptor signaling	1.00	Development A1 receptor signaling	0.65
Development A3 receptor signaling	1.00	G-protein signaling_G-Protein alpha-q signaling cascades	0.53
Development_A1 receptor signaling	0.65	G-protein signaling G-Protein alpha-q signaling cascades	0.53

G-protein signaling_G-Protein alpha-i signaling cascades

G-protein signaling_G-Protein alpha-i signaling cascades	1.00	Development Beta-adrenergic receptors regulation of ERK	0.55
G-protein signaling G-Protein alpha-i signaling cascades	1.00	G-protein signaling_G-Protein alpha-s signaling cascades	0.44
Development_Beta-adrenergic receptors regulation of ERK	0.55	G-protein signaling G-Protein alpha-s signaling cascades	0.44

Development_Dopamine D2 receptor transactivation of EGFR

Development_Dopamine D2 receptor transactivation of EGFR	1.00	Development Alpha-2 adrenergic receptor activation of ERK	0.66
Development Dopamine D2 receptor transactivation of EGFR	1.00	Chemotaxis_CXCR4 signaling pathway	0.48
Development_Alpha-2 adrenergic receptor activation of ERK	0.66	Chemotaxis CXCR4 signaling pathway	0.48

Pathway sources
See GeneCards unified pathways
Show all pathways

5/31 EMD Millipore Pathways for GNGT1 (see all 31)

	Chemotaxis CXCR4 signaling pathway
	Translation Translation regulation by Alpha-1 adrenergic receptors
	Development Activation of ERK by Alpha-1 adrenergic receptors
	Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
	Development A1 receptor signaling

5/47 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GNGT1 (see all 47)

	Molecular Mechanisms of Cancer
	Intracellular Calcium Signaling
	CDK5 Pathway
	JNK Pathway
	ERK5 Signaling

5/34 GeneGo (Thomson Reuters) Pathways for GNGT1 (see all 34)

	Signal transduction cAMP signaling
	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
	G-protein signaling G-Protein alpha-i signaling cascades
	Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions
	Signal transduction Activation of PKC via G-Protein coupled receptor

5 BioSystems Pathways for GNGT1

	Myometrial Relaxation and Contraction Pathways
	Estrogen signaling pathway
	Calcium Regulation in the Cardiac Cell
	G Protein Signaling Pathways
	Visual signal transduction- Rods

5/48 Reactome Pathways for GNGT1 (see all 48)

	G alpha (12/13) signalling events
	Platelet homeostasis
	G protein gated Potassium channels
	G alpha (z) signalling events
	Inwardly rectifying K+ channels

4 Kegg Pathways (Kegg details for GNGT1):

	Chemokine signaling pathway
	Glutamatergic synapse
	Cholinergic synapse
	Phototransduction

GNGT1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GNGT1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/342 Interacting proteins for GNGT1 (P63211³ ENSP00000248572⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 342)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GNB1	P62873³, ENSP00000367872⁴	I2D: score=2 STRING: ENSP00000367872
GNAS	Q5JWF2³, ENSP00000360141⁴	I2D: score=1 STRING: ENSP00000360141
IKBKG	Q9Y6K9³, ENSP00000358622⁴	I2D: score=1 STRING: ENSP00000358622
PLEKHB1	Q9UF11³, ENSP00000346127⁴	I2D: score=1 STRING: ENSP00000346127
NAGA	P17050³, ENSP00000379680⁴	I2D: score=1 STRING: ENSP00000379680

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006184	GTP catabolic process	TAS	8661128
GO:0007165	signal transduction	NAS	8661128
GO:0007186	G-protein coupled receptor signaling pathway	IEA	--
GO:0007268	synaptic transmission	TAS	--
GO:0007602	phototransduction	IEA	--

GNGT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GNGT1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GNGT1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Gallein	Inhibitor of betagamma signaling	[2103-64-2]
GRK2i	GRK2 inhibitory polypeptide. Gbetagamma antagonist	[148505-03-7]

3 HMDB Compounds for GNGT1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

1 DrugBank Compound for GNGT1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
FARNESYL	--	--	target	--	10592235

1 Novoseek chemical compound relationship for GNGT1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
metarhodopsin ii	78.9	1	1935895 (1)

Search CenterWatch for drugs/clinical trials and news about GNGT1 / GBG1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GNGT1 gene:

NM_021955.3

Unigene Cluster for GNGT1:

Guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1

Hs.732212 [show with all ESTs]

Unigene Representative Sequence: BX351444

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000455502(uc003umx.1) ENST00000248572(uc003unc.1) ENST00000429473

ENST00000430875 ENST00000428834

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: GNGT1 (NM_021955)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNGT1

Additional cDNA sequence:

AF493869.1 BC029367.1 CR456912.1 S62027.1

7 DOTS entries:

DT.108439 DT.75152481 DT.97838406 DT.453488 DT.100885681 DT.121070736 DT.99950887

24/42 AceView cDNA sequences (see all 42):

BX281635 BQ637754 AF493869 AA015841 AA019183 BM719352 S62027 BM692469

BQ185551 NM_021955 BQ189000 BG435040 BX509917 BU753913 BC029367 BM664051

BX434135 AA365936 CR456912 H38114 BX412292 BQ187492 BQ184407 AA018874

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for GNGT1 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4
SP1:									-
SP2:
SP3:									-

ECgene alternative splicing isoforms for GNGT1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GNGT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACGTGAATT

About this image

GNGT1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GNGT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GNGT1

SOURCE GeneReport for Unigene cluster: Hs.732212

UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211

Tissue specificity: Retinal rod outer segment

SABiosciences Expression via Pathway-Focused PCR Array including GNGT1:

Alzheimer's Disease in human mouse rat

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for GNGT1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GNGT1 gene from 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
African clawed frog (Xenopus laevis)	Amphibia	Xl.17547²	Xenopus laevis transcribed sequence with moderate similarity more	78.03(n)		BG812771.1
zebrafish (Danio rerio)	Actinopterygii	gngt1¹	guanine nucleotide binding protein (G protein), gamma more	71.3(n) 68.06(a)		335656 NM_199967.1 NP_956261.1

ENSEMBL Gene Tree for GNGT1 (if available)
TreeFam Gene Tree for GNGT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GNGT1 gene

GNG11² GNGT2²

10 SIMAP similar genes for GNGT1 using alignment to 3 protein entries: GBG1_HUMAN (see all proteins):

GNG11 GNGT2 DKFZp762E193 GNG12 GNG7 GNG10

GNG2 GNG3 GNG4 GNG8

GNGT1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for GNGT1
PGOHUM00000233472

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs180278^1,2	C,F,A,H	--	93533839(-)	`ATTTGG/ACTCCT`	1	--	us2k¹ tfbs³		15		EA NA WA CSA	588
rs73412379^1,2	C,F	--	93533870(+)	`TAAGTG/TTATCA`	1	--	us2k¹		3		WA CSA	122
rs192693403^1,2		--	93533969(+)	`GGAAGC/TACAAC`	1	--	us2k¹		0	--	--	--	--
rs140984837^1,2		--	93533999(+)	`AACACA/GTGCAA`	1	--	us2k¹		0	--	--	--	--
rs184180936^1,2		--	93534024(+)	`CTACAC/TGCCAT`	1	--	us2k¹		0	--	--	--	--
rs1858827^1,2	C,F,A,H	--	93534072(-)	`GATTTT/GTTGAG`	1	--	us2k¹		13		NS EA NA WA	778
rs149836683^1,2		--	93534130(+)	`ACAGGC/TAGGTC`	1	--	us2k¹		0	--	--	--	--
rs12668592^1,2	C,H	--	93534205(+)	`TATGAA/GAGGGC`	1	--	us2k¹		0	--	--	--	--
rs148541555^1,2		--	93534243(+)	`AAACCC/TAACAC`	1	--	us2k¹		0	--	--	--	--
rs142863204^1,2		--	93534288(+)	`TCATAA/TCTTTA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GNGT1 (93220885 - 93470885 bp, first 250kb of GNGT1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for GNGT1
8 CNVs: 94701 82088 82085 94699 94700 82087 94698 82086

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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GNGT1 for disorders           About GeneDecksing

OMIM gene information: 189970    OMIM disorders: --

7 diseases for GNGT1:    About MalaCards

fructose-1,6-bisphosphatase deficiency retinitis pigmentosa retinitis hypoxia

huntington's disease colorectal cancer breast cancer

Genetic Association Database (GAD): GNGT1
Human Genome Epidemiology (HuGE) Navigator: GNGT1 (1 document)

Export disorders for GNGT1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GNGT1 gene, integrated from 9 sources (see all 37):
(articles sorted by number of sources associating them with GNGT1)

Utopia: connect your pdf to the dynamic
world of online information

Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1). (PubMed id 8661128)^{1, 2, 3, 9} Scherer S.W.... Pittler S.J. (1996)
Structure of the bovine transducin gamma subunit gene and analysis of promoter function in transgenic mice. (PubMed id 8500562)^{1, 2, 9} Tao L.... Fong H.K. (1993)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (2003)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
[Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa] (PubMed id 15901556)^{1, 4} Zhang Q.J....Guo X.M. (2002)
Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)¹ Imboden M....Probst-Hensch N.M. (2012)
The WD40 repeat protein WDR26 binds Gbg and promotes G bg-dependent signal transduction and leukocyte migration. (PubMed id 22065575)¹ Sun Z....Chen S. (2011)
Expanding the substantial interactome of NEMO using p rotein microarrays. (PubMed id 20098747)¹ Fenner B.J....Prehn J.H. (2010)
G protein betagamma subunits regulate cell adhesion t hrough Rap1a and its effector Radil. (PubMed id 20048162)¹ Ahmed S.M....Angers S. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2792	HGNC: 4411	AceView: GNGT1	Ensembl:ENSG00000127928	euGenes: HUgn2792
ECgene: GNGT1	Kegg: 2792	H-InvDB: GNGT1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GNGT1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GNGT1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GNGT1 gene:
Search GeneIP for patents involving GNGT1

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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