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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GNAI3 Gene

protein-coding   GIFtS: 67
GCID: GC01P110091

Guanine Nucleotide Binding Protein (G Protein), Alpha Inhibiting...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Guanine Nucleotide Binding Protein (G Protein), Alpha Inhibiting
Activity Polypeptide 31 2
G(I) Alpha-32 3
87U62
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 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 (guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3) is a protein-coding gene. Diseases associated with GNAI3 include ankylosis, and fainting, and among its related super-pathways are G-protein mediated events and Immune response CCR3 signaling in eosinophils. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAQ.

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 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-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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  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 plasmidGNAI3 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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, microtubule organizing center,
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

Explore proteomics data for GNAI3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08754

  • GNAI3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GNAI3 Protein Expression
    REFSEQ proteins: NP_006487.1  
    ENSEMBL proteins: 
     ENSP00000358867  
    Reactome Protein details: P08754
    Human Recombinant Protein Products for GNAI3: 
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    ProSpec Recombinant Protein for GNAI3
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA17635935
    GO:0005765lysosomal membrane IDA17897319
    GO:0005794Golgi apparatus IEA--
    GO:0005813centrosome IDA17635935
    GO:0005834heterotrimeric G-protein complex IBA--

    GNAI3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001019 Gprotein_alpha_su
     IPR011025 GproteinA_insert
     IPR001408 Gprotein_alpha_I
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P08754

    ProtoNet protein and cluster: P08754

    2 Blocks protein domains:
    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


    GNAI3 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IBA--
    GO:0004871signal transducer activity IBA--
    GO:0005515protein binding ----
    GO:0005525GTP binding IEA--
    GO:0019001guanyl nucleotide binding ----
         
    GNAI3 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gnai3):
     cardiovascular system  homeostasis/metabolism  immune system  skeleton 

    GNAI3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GNAI3: Gnai3tm1Rmm Gnai3tm1Lbi

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GNAI3 
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    miRNA
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    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 plasmidGNAI3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GNAI3 About   (see all 79)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Ca-dependent events
    PLC beta mediated events0.65
    Opioid Signalling0.55
    G-protein mediated events0.64
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.35
    2Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    3Signal transduction cAMP signaling
    Signal transduction cAMP signaling0.44
    G Protein Signaling Pathways0.44
    4Development Endothelin-1/EDNRA signaling
    Development Endothelin-1/EDNRA signaling0.41
    Estrogen signaling pathway0.34
    5Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    Gap junction0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    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)
        G Protein Signaling Pathways
    Signal Transduction of S1P Receptor
    Calcium Regulation in the Cardiac Cell
    TSH signaling pathway
    CXCR3-mediated signaling events

    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

    5/23         Kegg Pathways  (Kegg details for GNAI3) (see all 23):
        Chemokine signaling pathway
    Axon guidance
    Tight junction
    Gap junction
    Leukocyte transendothelial migration


    GNAI3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM 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 (P087542, 3 ENSP000003588674) via UniProtKB, MINT, STRING, and/or I2D (see all 167)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592, 3MINT-48522 I2D: score=2 
    RIPK3Q9Y5722, 3MINT-49156 I2D: score=2 
    NUCB1Q028183, ENSP000002632734I2D: score=4 STRING: ENSP00000263273
    RGS10O436653, ENSP000003580994I2D: score=3 STRING: ENSP00000358099
    RGS12O149243, ENSP000003393814I2D: score=3 STRING: ENSP00000339381
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport NAS2452165
    GO:0006906vesicle fusion IEA--
    GO:0007049cell cycle IEA--
    GO:0007165signal transduction ----
    GO:0007186G-protein coupled receptor signaling pathway ----

    GNAI3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    CompoundAction CAS #
    GalleinInhibitor of betagamma signaling[2103-64-2]
    Suramin hexasodium saltNon-selective P2 antagonist[129-46-4]
    G-Protein antagonist peptideInhibits G protein activation by GPCRs[143675-79-0]
    8-Bromo-cGMP, sodium salt cGMP analog; activates PKG[51116-01-9]
    Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]

    3 HMDB Compounds for GNAI3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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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    Additional mRNA 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.121457440  DT.121457482  DT.91800369  DT.95162736  DT.95162740 
    DT.95162747  DT.95361845  DT.119094 

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

    BE767967 CA445337 BM463762 BP374376 AU102567 BM874032 BU520904 CA438104 
    CB565938 BM825504 BG413486 AU102568 BU686867 AA235987 AI650354 BP870874 
    BP374607 CR590664 AU134145 BM542187 AA372992 AL702913 BU152900 BM828381 

    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)      GNAI3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTACATTTT
    GNAI3 Expression
    About this image


    GNAI3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Blood (Respiratory System)    fully expand to see all 4 entries
             lung ; macrophages   
             bone marrow cd34+   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
             colon ; peripheral nerve/ganglion   
     
     Peripheral Nervous System (Nervous System)
             colon ; peripheral nerve/ganglion   
     
     Intestine (Gastrointestinal Tract)
             duodenum ; glandular cells   

    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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    (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 animals.

    Orthologs for GNAI3 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnai31 , 5 guanine nucleotide binding protein (G protein), alpha more1, 5 93.5(n)1
    98.31(a)1
      3 (46.83 cM)5
    146791  NM_010306.21  NP_034436.11 
     1081072805 
    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
    Uncharacterized protein
    97(a)
    1 ↔ 1
    4(105749998-105780337)
    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)
        --


    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  GNA112  GNA142  GNAT22  GNA132  GNAT32  GNAT12  GNA122  
    GNAI22  GNA152  GNAZ2  GNAO12  GNAI12  
    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, 4UniProtKB, 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

    10/853 SNPs in GNAI3 are shown (see all 853)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0685584
    Auriculocondylar syndrome 1 (ARCND1)4--see VAR_0685582 G R mis40--------
    rs342094921,2
    C--107989225(+) TGTGT-/GTATATC 1 -- int11Minor allele frequency- GT:0.00NA 2
    rs1466308791,2
    C--107991107(+) CGTGC-/GTGT  
            
    GTGTG
    1 -- int10--------
    rs120593341,2
    C--107991110(+) GCGTGC/TGTGTG 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1138095821,2
    C--107991114(+) GTGTGC/TGTGTG 1 -- int11Minor allele frequency- T:0.50NA 2
    rs727032941,2
    C--107993640(+) CACATA/TCAACT 1 -- int10--------
    rs727032951,2
    C--107993641(+) ACATTC/TAACTC 1 -- int10--------
    rs352020061,2
    C--108018891(+) GCTAAT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1386317821,2
    C--108019042(+) ATTAG-/TAATTC 1 -- int10--------
    rs114282161,2
    C--110095966(+) AAAAAA/-CTTTG 1 -- int12Minor allele frequency- -:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for GNAI3 (110091186 - 110138452 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GNAI3: --

    Human Gene Mutation Database (HGMD): GNAI3
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 139370    OMIM disorders: --

    UniProtKB/Swiss-Prot: GNAI3_HUMAN, P08754
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for GNAI3:    About MalaCards
    ankylosis    fainting    trypanosomiasis    night blindness
    chagas disease    toxoplasmosis    major depressive disorder    blindness
    pertussis    cleft palate    huntington's disease    parkinson's disease
    retinitis    breast cancer    neuronitis


    GNAI3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): GNAI3
    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 104):
    (articles sorted by number of sources associating them with GNAI3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Genome-wide association study of recurrent early-onse t major depressive disorder. (PubMed id 20125088)1, 4 Shi J....Levinson D.F. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Neither replication nor simulation supports a role for the axon guidance pathway in the genetics of Parkinson's disease. (PubMed id 18628988)1, 4 Li Y....Hadjigeorgiou G. (2008)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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    (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
    NameDescription
    PharmGKB entry for GNAI3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GNAI3 gene:
    Search GeneIP for patents involving GNAI3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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