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 ... See more...

Aliases for GNAI3 Gene

Aliases for GNAI3 Gene

  • G Protein Subunit Alpha I3 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Inhibiting Activity Polypeptide 3 2 3
  • Guanine Nucleotide-Binding Protein G(K) Subunit Alpha 2 3
  • G(I) Alpha-3 3 4
  • 87U6 2 3
  • Guanine Nucleotide-Binding Protein G(I) Subunit Alpha-3 4
  • Guanine Nucleotide-Binding Protein G(I) Subunit Alpha 3
  • ARCND1 3
  • GNAI3 5

External Ids for GNAI3 Gene

Previous GeneCards Identifiers for GNAI3 Gene

  • GC01P110570
  • GC01P109020
  • GC01P109193
  • GC01P109390
  • GC01P109803
  • GC01P110091
  • GC01P107983

Summaries for GNAI3 Gene

Entrez Gene Summary for GNAI3 Gene

  • 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]

GeneCards Summary for GNAI3 Gene

GNAI3 (G Protein Subunit Alpha I3) is a Protein Coding gene. Diseases associated with GNAI3 include Auriculocondylar Syndrome 1 and Auriculo-Condylar Syndrome. Among its related pathways are Beta-Adrenergic Signaling and ERK Signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAI1.

UniProtKB/Swiss-Prot Summary for GNAI3 Gene

  • Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). 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 (PubMed:17635935).

Tocris Summary for GNAI3 Gene

  • 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 binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNAI3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNAI3 Gene

Genomics for GNAI3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GNAI3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNAI3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNAI3

Top Transcription factor binding sites by QIAGEN in the GNAI3 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ATF6
  • ER-alpha
  • HEN1
  • Ik-2
  • Pax-4a
  • SRY

Genomic Locations for GNAI3 Gene

Latest Assembly
chr1:109,548,615-109,600,195
(GRCh38/hg38)
Size:
51,581 bases
Orientation:
Plus strand

Previous Assembly
chr1:110,091,237-110,142,817
(GRCh37/hg19 by Entrez Gene)
Size:
51,581 bases
Orientation:
Plus strand

chr1:110,091,233-110,136,975
(GRCh37/hg19 by Ensembl)
Size:
45,743 bases
Orientation:
Plus strand

Genomic View for GNAI3 Gene

Genes around GNAI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAI3 Gene

Proteins for GNAI3 Gene

  • Protein details for GNAI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08754-GNAI3_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(i) subunit alpha-3
    Protein Accession:
    P08754
    Secondary Accessions:
    • P17539
    • Q5TZX1

    Protein attributes for GNAI3 Gene

    Size:
    354 amino acids
    Molecular mass:
    40532 Da
    Quaternary structure:
    • Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha subunit contains the guanine nucleotide binding site. GTP binding causes dissociation of the heterotrimer, liberating the individual subunits so that they can interact with downstream effector proteins. Forms a complex with CCDC88A/GIV and EGFR which leads to enhanced EGFR signaling and triggering of cell migration; ligand stimulation is required for recruitment of GNAI3 to the complex (PubMed:20462955). Interacts (inactive GDP-bound form) with CCDC88A/GIV (via GBA motif); the interaction leads to activation of GNAI3 (PubMed:19211784, PubMed:20462955). Interacts (inactive GDP-bound form) with CCDC88C/DAPLE (via GBA motif); the interaction leads to activation of GNAI3 (PubMed:26126266). Interacts (inactive GDP-bound form) with NUCB1 (via GBA motif) and NUCB2 (via GBA motif); the interaction leads to activation of GNAI3 (By similarity). Interacts (inactive GDP-bound form) with PLCD4 (via GBA motif); the interaction leads to activation of GNAI3 (PubMed:30194280). Interacts with INSR; the interaction is probably mediated by CCDC88A/GIV (PubMed:25187647). Interacts with GPSM1 (By similarity). Interacts (GDP-bound form) with GPSM2 (via GoLoco domains) (PubMed:22952234). Does not interact with RGS2 (PubMed:19478087). Interacts with RGS8 and RGS10; this strongly enhances the intrinsic GTPase activity (PubMed:8774883, PubMed:18434541). Interacts with RGS16; this strongly enhances the intrinsic GTPase activity (PubMed:19478087). Interacts with RGS12 (By similarity). Interacts (via active GTP- or inactive GDP-bound form) with RGS14 (By similarity).

    Three dimensional structures from OCA and Proteopedia for GNAI3 Gene

neXtProt entry for GNAI3 Gene

Post-translational modifications for GNAI3 Gene

  • (Microbial infection) Deamidated at Gln-204 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.
  • Ubiquitination at Lys92, Lys128, Lys192, and Lys349
  • Modification sites at PhosphoSitePlus

Other Protein References for GNAI3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GNAI3 Gene

Domains & Families for GNAI3 Gene

Gene Families for GNAI3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GNAI3 Gene

InterPro:
Blocks:
  • Alpha G-protein (transducin) signature
  • G-protein alpha subunit group I signature
ProtoNet:

Suggested Antigen Peptide Sequences for GNAI3 Gene

GenScript: Design optimal peptide antigens:
  • G(i) alpha-3 (GNAI3_HUMAN)
  • cDNA, FLJ92547, Homo sapiens guanine nucleotide binding protein (G protein), alphainhibiting activity polypeptide 3 (GNAI3), mRNA (Q5TZX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08754

UniProtKB/Swiss-Prot:

GNAI3_HUMAN :
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Family:
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
genes like me logo Genes that share domains with GNAI3: view

Function for GNAI3 Gene

Molecular function for GNAI3 Gene

UniProtKB/Swiss-Prot Function:
Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). 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 (PubMed:17635935).
GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha inhibiting activity,polypeptide 3

Phenotypes From GWAS Catalog for GNAI3 Gene

Gene Ontology (GO) - Molecular Function for GNAI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001664 G protein-coupled receptor binding IBA 21873635
GO:0003924 GTPase activity TAS,IDA 19478087
GO:0005515 protein binding IPI 18434541
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with GNAI3: view
genes like me logo Genes that share phenotypes with GNAI3: view

Human Phenotype Ontology for GNAI3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNAI3 Gene

MGI Knock Outs for GNAI3:

miRNA for GNAI3 Gene

miRTarBase miRNAs that target GNAI3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAI3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNAI3 Gene

Localization for GNAI3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNAI3 Gene

Cytoplasm. Cell membrane. Lipid-anchor. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes in the centrosomes of interphase and mitotic cells. Detected at the cleavage furrow and/or the midbody. {ECO:0000269 PubMed:17635935}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNAI3 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
extracellular 4
lysosome 4
cytosol 3
golgi apparatus 3
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNAI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 colocalizes_with Golgi membrane IDA 12642577
GO:0005737 cytoplasm IEA,IDA 17635935
GO:0005765 lysosomal membrane HDA 17897319
GO:0005789 colocalizes_with endoplasmic reticulum membrane IDA 12642577
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with GNAI3: view

Pathways & Interactions for GNAI3 Gene

PathCards logo

SuperPathways for GNAI3 Gene

SuperPathway Contained pathways
1 ADP signalling through P2Y purinoceptor 12
.43
2 G-Beta Gamma Signaling
.46
.46
.44
.37
.32
.30
3 S1P3 pathway
4 DAG and IP3 signaling
.33
5 Development Angiotensin activation of ERK
.73
.73
.65
.54
.45
genes like me logo Genes that share pathways with GNAI3: view

Pathways by source for GNAI3 Gene

25 GeneGo (Thomson Reuters) pathways for GNAI3 Gene
  • Cell adhesion Ephrins signaling
  • Cell adhesion Integrin inside-out signaling
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling Reverse signaling by ephrin B
  • Development A1 receptor signaling
57 Qiagen pathways for GNAI3 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR

Gene Ontology (GO) - Biological Process for GNAI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006906 vesicle fusion IEA --
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with GNAI3: view

Drugs & Compounds for GNAI3 Gene

(3) Drugs for GNAI3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNAI3 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNAI3 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNAI3: view

Transcripts for GNAI3 Gene

mRNA/cDNA for GNAI3 Gene

1 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAI3

Alternative Splicing Database (ASD) splice patterns (SP) for GNAI3 Gene

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

Relevant External Links for GNAI3 Gene

GeneLoc Exon Structure for
GNAI3

Expression for GNAI3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNAI3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GNAI3 Gene

This gene is overexpressed in Fetal Brain (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNAI3 Gene



Protein tissue co-expression partners for GNAI3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNAI3

SOURCE GeneReport for Unigene cluster for GNAI3 Gene:

Hs.73799

Evidence on tissue expression from TISSUES for GNAI3 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Kidney(4.2)
  • Skin(3.8)
  • Lung(3.5)
  • Blood(3)
  • Intestine(2.7)
  • Spleen(2.6)
  • Heart(2.2)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNAI3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • lung
  • trachea
General:
  • skin
genes like me logo Genes that share expression patterns with GNAI3: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GNAI3 Gene

Orthologs for GNAI3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GNAI3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GNAI3 30 31
  • 99.62 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GNAI3 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GNAI3 30 31
  • 96.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GNAI3 30 31
  • 95.39 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GNAI3 31
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gnai3 30 17 31
  • 93.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gnai3 30
  • 92.47 (n)
Chicken
(Gallus gallus)
Aves GNAI3 30 31
  • 81.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GNAI3 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gnai3 30
  • 79 (n)
Zebrafish
(Danio rerio)
Actinopterygii gnai3 30 31
  • 77.87 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta G-ialpha65A 31 32
  • 77 (a)
OneToMany
G-oalpha47A 32
  • 69 (a)
Galpha73B 32
  • 35 (a)
Worm
(Caenorhabditis elegans)
Secernentea goa-1 32
  • 70 (a)
gpa-4 32
  • 61 (a)
gpa-7 32
  • 54 (a)
gpa-3 32
  • 51 (a)
odr-3 32
  • 48 (a)
gpa-1 32
  • 44 (a)
gpa-15 32
  • 43 (a)
gpa-2 32
  • 43 (a)
gpa-11 32
  • 40 (a)
gpa-8 32
  • 39 (a)
gpa-6 32
  • 38 (a)
gpa-9 32
  • 36 (a)
gpa-10 32
  • 36 (a)
gpa-14 32
  • 31 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10341 31
  • 82 (a)
OneToMany
Species where no ortholog for GNAI3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GNAI3 Gene

ENSEMBL:
Gene Tree for GNAI3 (if available)
TreeFam:
Gene Tree for GNAI3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNAI3: view image

Paralogs for GNAI3 Gene

(19) SIMAP similar genes for GNAI3 Gene using alignment to 2 proteins:

  • GNAI3_HUMAN
  • Q5TZX1_HUMAN
genes like me logo Genes that share paralogs with GNAI3: view

Variants for GNAI3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNAI3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
917731 Uncertain Significance: not specified 109,592,154(+) C/T
NM_006496.4(GNAI3):c.986C>T (p.Thr329Met)
MISSENSE
988478 Likely Pathogenic: not provided 109,573,761(+) C/A
NM_006496.4(GNAI3):c.143C>A (p.Thr48Asn)
MISSENSE
989287 Uncertain Significance: Auriculocondylar syndrome 1 109,574,038(+) G/A
NM_006496.4(GNAI3):c.303+1G>A
SPLICE_DONOR
rs138850957 Likely Benign: not provided 109,574,003(+) G/A
NM_006496.4(GNAI3):c.269G>A (p.Arg90Gln)
MISSENSE
rs1553223897 Uncertain Significance: not specified 109,573,758(+) G/A
NM_006496.4(GNAI3):c.140G>A (p.Ser47Asn)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GNAI3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GNAI3 Gene

Variant ID Type Subtype PubMed ID
nsv946131 CNV duplication 23825009

Variation tolerance for GNAI3 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNAI3 Gene

Human Gene Mutation Database (HGMD)
GNAI3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNAI3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAI3 Gene

Disorders for GNAI3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GNAI3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GNAI3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAI3_HUMAN
  • Auriculocondylar syndrome 1 (ARCND1) [MIM:602483]: 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. {ECO:0000269 PubMed:22560091}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GNAI3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GNAI3: view

No data available for Genatlas for GNAI3 Gene

Publications for GNAI3 Gene

  1. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. (PMID: 22560091) Rieder MJ … Cunningham ML (American journal of human genetics 2012) 3 4 74
  2. Molecular cloning of a new human G protein. Evidence for two Gi alpha-like protein families. (PMID: 3109953) Didsbury JR … Snyderman R (FEBS letters 1987) 2 3 4
  3. A biochemical and genetic discovery pipeline identifies PLCδ4b as a nonreceptor activator of heterotrimeric G-proteins. (PMID: 30194280) Maziarz M … Garcia-Marcos M (The Journal of biological chemistry 2018) 3 4
  4. Membrane Recruitment of the Non-receptor Protein GIV/Girdin (Gα-interacting, Vesicle-associated Protein/Girdin) Is Sufficient for Activating Heterotrimeric G Protein Signaling. (PMID: 27864364) Parag-Sharma K … Garcia-Marcos M (The Journal of biological chemistry 2016) 3 4
  5. Daple is a novel non-receptor GEF required for trimeric G protein activation in Wnt signaling. (PMID: 26126266) Aznar N … Ghosh P (eLife 2015) 3 4

Products for GNAI3 Gene

Sources for GNAI3 Gene