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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GNAI3 Gene

protein-coding GIFtS: 64
GCID: GC01P110091

guanine nucleotide binding protein (G protein), alpha inhibiting...

Explore 15 diseases affiliated with
GNAI3 via

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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), Alpha Inhibiting Activity Polypeptide 3¹ ²
87U6¹ ²
G(I) Alpha-3² ³
ARCND1²
Guanine Nucleotide-Binding Protein G(K) Subunit Alpha²

External Ids:	HGNC: 4387¹	Entrez Gene: 2773²	Ensembl: ENSG00000065135⁷	OMIM: 139370⁵	UniProtKB: P08754³

Export aliases for GNAI3 gene to outside databases

Previous GC identifers: GC01P110570 GC01P109020 GC01P109193 GC01P109390 GC01P109803 GC01P107983

(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 GNAI3:

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane

signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and

belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with

auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor

pathway. (provided by RefSeq, Jun 2012)

UniProtKB/Swiss-Prot: GNAI3_HUMAN, P08754

Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various

transmembrane signaling systems. G(k) is the stimulatory G protein of receptor-regulated K(+) channels. The active

GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from

the cytoplasm to the plasma membrane. May play a role in cell division

summary for GNAI3:

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; Galphas and Galphai bind

directly to adenylyl cyclase and stimulate or inhibit its activity, leading to an increase or decrease in

cAMP levels respectively.

Gene Wiki entry for GNAI3

(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_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GNAI3 gene promoter:
ER-alpha AP-2gamma HEN1 SRY Ik-2 AP-2beta Pax-4a AP-2alpha AP-2alphaA ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GNAI3 promoter sequence

Search SABiosciences Chromatin IP Primers for GNAI3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNAI3

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

Entrez Gene cytogenetic band: 1p13 Ensembl cytogenetic band: 1p13.3 HGNC cytogenetic band: 1p13

GNAI3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNAI3 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P110091: view genomic region (about GC identifiers)

Start:	110,091,186 bp from pter	End:	110,138,452 bp from pter
Size:	47,267 bases	Orientation:	plus strand

(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: GNAI3_HUMAN, P08754 (See protein sequence)

Recommended Name: Guanine nucleotide-binding protein G(k) subunit alpha

Size: 354 amino acids; 40532 Da

Subunit: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide

binding site. Interacts with GPSM1. Interacts (via active GTP- or inactive GDP-bound form) with RGS14 (By similarity)

Subcellular location: Cytoplasm. Cell membrane. Cytoplasm, cytoskeleton, centrosome. Note=Localizes in the centrosomes

of interphase and mitotic cells. Detected at the cleavage furrow and/or the midbody

6 PDB 3D structures from and Proteopedia for GNAI3:

2IHB (3D)

2ODE (3D)

2V4Z (3D)

4G5O (3D)

4G5R (3D)

4G5S (3D)

Secondary accessions: P17539

Explore the universe of human proteins at neXtProt for GNAI3: NX_P08754

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08754

GNAI3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006487.1

ENSEMBL proteins:

ENSP00000358867

Reactome Protein details: P08754
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	ProSpec Recombinant Protein for GNAI3
	Browse Proteins at Uscn

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	IDA	17635935
GO:0005794	Golgi apparatus	IEA	--
GO:0005813	centrosome	IDA	17635935
GO:0005834	heterotrimeric G-protein complex	IBA	--

GNAI3 for ontologies About GeneDecksing

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Assay Products for GNAI3:

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	GenScript Custom Assay Services for GNAI3
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	Browse ELISAs and CLIAs at Uscn

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

GNAI3 for domains About GeneDecksing

3 InterPro domains/families:

IPR001019 Gprotein_alpha_su

IPR011025 GproteinA_insert

IPR001408 Gprotein_alpha_I

Graphical View of Domain Structure for InterPro Entry P08754

ProtoNet protein and cluster: P08754

2 Blocks protein families:

IPB001019 Alpha G-protein (transducin) signature

IPB001408 G-protein alpha subunit group I signature

UniProtKB/Swiss-Prot: GNAI3_HUMAN, P08754

Similarity: Belongs to the G-alpha family. G(i/o/t/z) subfamily

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

Function Summary:

UniProtKB/Swiss-Prot: GNAI3_HUMAN, P08754

Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various

transmembrane signaling systems. G(k) is the stimulatory G protein of receptor-regulated K(+) channels. The active

GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from

the cytoplasm to the plasma membrane. May play a role in cell division

Genatlas biochemistry entry for GNAI3:

guanine nucleotide binding protein (G protein),alpha inhibiting activity,polypeptide 3

miRNA Products:		miRTarBase miRNAs that target GNAI3: hsa-mir-124 (MIRT002679)

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		8/104 QIAGEN miScript miRNA Assays for microRNAs that regulate GNAI3 (see all 104):
		hsa-miR-548j hsa-miR-100* hsa-miR-607 hsa-miR-15a hsa-miR-3653 hsa-miR-3916 hsa-miR-4275 hsa-miR-155*

		SwitchGear 3'UTR luciferase reporter plasmid: GNAI3 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAI3

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	IBA	--
GO:0004871	signal transducer activity	IBA	--
GO:0005515	protein binding	--	--
GO:0005525	GTP binding	IEA	--
GO:0031683	G-protein beta/gamma-subunit complex binding	IBA	--

GNAI3 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for GNAI3: Gnai3^tm1Rmm Gnai3^tm1Lbi
     3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Gnai3):

cardiovascular system

homeostasis/metabolism

immune system

GNAI3 for phenotypes About GeneDecksing

(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 - 5/76 super-pathways (see all 76) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

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_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

Opioid Signalling

Opioid Signalling	1.00	Beta-agonist/Beta-blocker Pathway, Pharmacodynamics	0.35
G-protein mediated events	0.55	Glutamatergic synapse	0.31
PLC beta mediated events	0.54

G Protein Signaling Pathways

G Protein Signaling Pathways	1.00	Signal transduction_PKA signaling	0.23
Signal transduction cAMP signaling	0.44	Signal transduction PKA signaling	0.23
Signal transduction_cAMP signaling	0.44

G-Beta Gamma Signaling

G-Beta Gamma Signaling	1.00	Relaxin Pathway	0.32
GHRH Signaling	0.46	Hedgehog Signaling in Mammals	0.22
CRHR Pathway	0.44

Pathway sources
See GeneCards unified pathways
Show all pathways

5/23 EMD Millipore Pathways for GNAI3 (see all 23)

	Chemotaxis CXCR4 signaling pathway
	Development A1 receptor signaling
	Immune response CCR3 signaling in eosinophils
	Cell adhesion Integrin inside-out signaling
	Development G-Proteins mediated regulation MARK-ERK signaling

5/57 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GNAI3 (see all 57)

	RhoA Pathway
	Molecular Mechanisms of Cancer
	Intracellular Calcium Signaling
	Visual Cycle in Retinal Rods
	CDK5 Pathway

5/25 GeneGo (Thomson Reuters) Pathways for GNAI3 (see all 25)

	Signal transduction cAMP signaling
	Development Endothelin-1/EDNRA 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

5/13 BioSystems Pathways for GNAI3 (see all 13)

	Signal Transduction of S1P Receptor
	Calcium Regulation in the Cardiac Cell
	G Protein Signaling Pathways
	TSH signaling pathway
	S1P2 pathway

5/20 Reactome Pathways for GNAI3 (see all 20)

	Transmission across Chemical Synapses
	Neuronal System
	Opioid Signalling
	G-protein activation
	Adenylate cyclase inhibitory pathway

3 PharmGKB Pathways for GNAI3

	Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
	Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

5/14 Kegg Pathways (Kegg details for GNAI3) (see all 14):

	Chemokine signaling pathway
	Axon guidance
	Tight junction
	Gap junction
	Leukocyte transendothelial migration

GNAI3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GNAI3

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

5/167 Interacting proteins for GNAI3 (P08754^{2, 3} ENSP00000358867⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 167)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAP3K3	Q99759²^,³	MINT-48522 I2D: score=2
RIPK3	Q9Y572²^,³	MINT-49156 I2D: score=2
NUCB1	Q02818³, ENSP00000263273⁴	I2D: score=4 STRING: ENSP00000263273
RGS10	O43665³, ENSP00000358099⁴	I2D: score=3 STRING: ENSP00000358099
RGS12	O14924³, ENSP00000339381⁴	I2D: score=3 STRING: ENSP00000339381

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006184	GTP catabolic process	TAS	3109953
GO:0006810	transport	NAS	2452165
GO:0006906	vesicle fusion	IEA	--
GO:0007049	cell cycle	IEA	--
GO:0007165	signal transduction	--	--

GNAI3 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GNAI3 available from Tocris Bioscience About this table

Compound	Action	CAS #
Mastoparan X	G protein activator peptide	[72093-22-2]
Mastoparan	Activates Gi and Go	[72093-21-1]
Pertussis Toxin	Catalyzes ADP-ribosylation of Gi, Go and Gt	[70323-44-3]
Melittin	Inhibits Gs and stimulates Gi activity	[20449-79-0]
NF 023	Selective, competitive P2X antagonist	[104869-31-0]

3 HMDB Compounds for GNAI3 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	--

Search CenterWatch for drugs/clinical trials and news about GNAI3

(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, 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 GNAI3 gene:

NM_006496.3

Unigene Clusters for GNAI3:

Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3

Hs.73799 [show with all ESTs], Hs.741171 [show with all ESTs]

Unigene Representative Sequences: NM_006496, AK130069

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000369851(uc001dxz.2)

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		hsa-miR-548j hsa-miR-100* hsa-miR-607 hsa-miR-15a hsa-miR-3653 hsa-miR-3916 hsa-miR-4275 hsa-miR-155*

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Additional cDNA sequence: AK130069.1

19 DOTS entries:

DT.95082843 DT.100842741 DT.119093 DT.91774020 DT.40281133 DT.121457468 DT.121457495 DT.121457475

DT.100029430 DT.99931859 DT.100820501 DT.119094 DT.121457440 DT.121457482 DT.91800369 DT.95162736

DT.95162740 DT.95162747 DT.95361845

24/566 AceView cDNA sequences (see all 566):

BM825504 AI022225 BM874032 AU134145 AU102568 CA445337 CA396090 BM449934

BM542187 CR608095 BE767967 BU152900 BP369907 AU102567 BM977767 BM463783

AU133442 BM828927 BM828381 BP374376 AL702913 AL546289 BU192174 AF493907

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for GNAI3 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	^	6	^	7	^	8	^	9a	·	9b	^	10a	·	10b
SP1:					-						-														-
SP2:											-
SP3:					-
SP4:

ECgene alternative splicing isoforms for GNAI3

(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

GNAI3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTACATTTT

About this image
See GNAI3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GNAI3

SOURCE GeneReport for Unigene clusters: Hs.73799 Hs.741171

SABiosciences Custom PCR Arrays for GNAI3

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In Situ
Assay Products:

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(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 eukaryotes.

Orthologs for GNAI3 gene from 7/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GNAI3¹	guanine nucleotide binding protein (G protein), alpha more	81.07(n) 94.92(a)		374097 NM_204249.1 NP_989580.1
lizard (Anolis carolinensis)	Reptilia	GNAI3⁶	--	97(a)	1 ↔ 1	4(105749998-105780334)
zebrafish (Danio rerio)	Actinopterygii	gnai3¹	guanine nucleotide binding protein (G protein), alpha more	77.87(n) 90.68(a)		100006888 NM_001111250.1 NP_001104720.1
fruit fly (Drosophila melanogaster)	Insecta	G-ialpha65A³	G-protein coupled receptor protein signaling pathway more	76(a) (best of 3)		--
worm (Caenorhabditis elegans)	Secernentea	goa-1³	guanine nucleotide-binding protein	70(a) (best of 14)		I(7530272-7533917) --
thale cress (Arabidopsis thaliana)	eudicotyledons	XLG1⁶ XLG2⁶ (see all 4)	extra-large GTP-binding protein 2 (see all 4)	9(a) 8(a) (see all 4)	many ↔ many many ↔ many (see all 4)	2(9995478-9999122) 4(16441179-16445005)
rice (Oryza sativa)	Liliopsida	-- XA7⁶ (see all 5)	G-protein alpha subunit, putative, expressed (see all 5)	9(a) 29(a) (see all 5)	many ↔ many many ↔ many (see all 5)	12(24838937-24843804) 5(15552385-15556024)

ENSEMBL Gene Tree for GNAI3 (if available)
TreeFam Gene Tree for GNAI3 (if available)

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

Paralogs for GNAI3 gene

GNAQ² GNA14² GNA11² GNAT2² GNA13² GNAT3² GNAT1² GNA15²

GNAI2² GNA12² GNAZ² GNAI1² GNAO1²

18 SIMAP similar genes for GNAI3 using alignment to 2 protein entries: GNAI3_HUMAN (see all proteins):

GNAI1 GNAI2 DKFZp686O0962 GNAT2 GNAT3 GNAT1

GNAO1 GNAZ GNA11 GNA14 GNAQ GNA12

GNA13 GNA15 GNAL GSA GNAS WUGSC

GNAI3 for paralogs About GeneDecksing

(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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs72987017^1,2	C,	--	107983104(+)	`CTTTTG/ACCAAT`	1	--	us2k¹		1		WA	2
rs17435925^1,2	F	--	107983415(+)	`ATATTC/GCCGCG`	1	--	us2k¹		2		MN EA	376
rs74113937^1,2	C,	--	107983674(+)	`GGAGAG/ATGGTT`	1	--	us2k¹		2		WA	120
rs200688916^1,2	C	--	107983852(+)	`CCCTCC/TCNNNN`	1	--	ut5¹		0	--	--	--	--
rs35781978^1,2	F	--	107983927(+)	`GACCGA/C/GAACTT`	3	R	syn¹		1		--	68
rs74113939^1,2	C,	--	107984674(+)	`TTCTGT/GTTTTA`	1	--	int¹		2		WA	120
rs115569022^1,2	C,F,	--	107985119(+)	`GGGTAG/ATATTT`	1	--	int¹		1		WA	118
rs72703291^1,2	C,	--	107985982(+)	`CAGCAG/TTTTCT`	1	--	int¹		0	--	--	--	--
rs693511^1,2	H	--	107987847(+)	`ATTTTG/CTGTGT`	1	--	int¹		4		NS EA	414
rs12094924^1,2	C,H,	--	107988091(+)	`TAACCA/GTAAGA`	1	--	int¹		5		EA NS NA WA	300

HapMap Linkage Disequilibrium report for GNAI3 (110091186 - 110138452 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GNAI3: --
Human Gene Mutation Database (HGMD): GNAI3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GNAI3

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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.)
About This Section

GNAI3 for disorders About GeneDecksing

OMIM gene information: 139370 OMIM disorders: --

UniProtKB/Swiss-Prot: GNAI3_HUMAN, P08754

Defects in GNAI3 are the cause of auriculocondylar syndrome 1 (ARCND1) [MIM:602483]. ARCND1 is an autosomal

dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe

micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of

separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other

frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and

microstomia

15 diseases for GNAI3: About MalaCards

major depressive disorder night blindness fainting chagas disease

trypanosomiasis blindness toxoplasmosis parkinson's disease

pertussis pharyngitis retinitis neuronitis

carcinoma huntington's disease breast cancer

Human Genome Epidemiology (HuGE) Navigator: GNAI3 (2 documents)

Export disorders for GNAI3 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)
About This Section

PubMed articles for GNAI3 gene, integrated from 9 sources (see all 95):
(articles sorted by number of sources associating them with GNAI3)

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

Molecular cloning of a new human G protein. Evidence for two Gi alpha-like protein families. (PubMed id 3109953)^{1, 2, 3} Didsbury J.R. and Snyderman R. (1987)
A human homeotic transformation resulting from mutatio ns in PLCB4 and GNAI3 causes auriculocondylar syndrome. (PubMed id 22560091)^{1, 2} Rieder M.J....Cunningham M.L. (2012)
Localization of Gi alpha proteins in the centrosomes and at the midbody: implication for their role in cell division. (PubMed id 17635935)^{1, 2} Cho H. and Kehrl J.H. (2007)
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)
Identification of cDNA encoding an additional alpha subunit of a human GTP-binding protein: expression of three alpha i subtypes in human tissues and cell lines. (PubMed id 3132707)^{1, 2} Kim S.... Neer E.J. (1988)
Alpha i-3 cDNA encodes the alpha subunit of Gk, the stimulatory G protein of receptor-regulated K+ channels. (PubMed id 2452165)^{1, 2} Codina J....Birnbaumer L. (1988)
Presence of three distinct molecular species of Gi protein alpha subunit. Structure of rat cDNAs and human genomic DNAs. (PubMed id 2834384)^{1, 2} Itoh H.... Kaziro Y. (1988)
A small multigene family encodes Gi signal-transduction proteins. (PubMed id 3120178)^{1, 2} Beals C.R.... Perlmutter R.M. (1987)
The human genome encodes at least three non-allellic G proteins with alpha i-type subunits. (PubMed id 2440724)^{1, 2} Suki W.N.... Birnbaumer L. (1987)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)

(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)
About This Section

Entrez Gene: 2773	HGNC: 4387	AceView: GNAI3	Ensembl:ENSG00000065135	euGenes: HUgn2773
ECgene: GNAI3	Kegg: 2773	H-InvDB: GNAI3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GNAI3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GNAI3 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 GNAI3 gene:
Search GeneIP for patents involving GNAI3

GeneCards and IP:
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