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GNAI3 Gene

protein-coding   GIFtS: 67
GCID: GC01P110091

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

  See GNAI3-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Alpha Inhibiting
Activity Polypeptide 31 2
G(I) Alpha-32 3
ARCND12 5
87U62
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 auriculocondylar syndrome 1. GO annotations related to this gene include GTP binding and GTPase 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   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 Chromatin IP Primers for GNAI3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Ubiquitination2 at Lys35, Lys46, Lys92, Lys128, Lys192, Lys248, Lys349
  • Modification sites at PhosphoSitePlus

  • See GNAI3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006487.1  
    ENSEMBL proteins: 
     ENSP00000358867  
    Reactome Protein details: P08754

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with GNAI3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 10):    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 ----
         
    Find genes that share ontologies with GNAI3           About GenesLikeMe


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

    Find genes that share phenotypes with GNAI3           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for GNAI3

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    Selected qRT-PCR 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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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GNAI3_HUMAN, P08754: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol3
    golgi apparatus2
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    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--

    Find genes that share ontologies with GNAI3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GNAI3 About   (see all 80)  
    See pathways by source

    SuperPathContained pathways About
    1ADP signalling through P2Y purinoceptor 12
    Signal amplification0.79
    G alpha (z) signalling events0.47
    ADP signalling through P2Y purinoceptor 120.74
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.34
    G-protein activation0.74
    2Ca-dependent events
    PLC beta mediated events0.67
    Opioid Signalling0.54
    G-protein mediated events0.65
    Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling0.33
    3EphB-EphrinB Signaling
    EphB-EphrinB Signaling0.58
    Cytoskeleton remodeling Reverse signaling by ephrin B0.34
    4Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    5G Protein Signaling Pathways
    G Protein Signaling Pathways0.44
    Signal transduction cAMP signaling0.44


    Find genes that share SuperPaths with GNAI3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNAI3 (see all 57)
        RhoA Pathway
    Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CDK5 Pathway

    Selected 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

    Selected BioSystems Pathways for GNAI3 (see all 13)
        Signal Transduction of S1P Receptor
    G Protein Signaling Pathways
    Calcium Regulation in the Cardiac Cell
    TSH signaling pathway
    S1P1 pathway


    Selected Reactome Pathways for GNAI3 (see all 7)
        G-protein activation
    Adenylate cyclase inhibitory pathway
    PLC beta mediated events
    G alpha (i) signalling events
    ADP signalling through P2Y purinoceptor 12

    3 PharmGKB Pathways for GNAI3
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for GNAI3) (see all 27):
        Rap1 signaling pathway
    Chemokine signaling pathway
    Adrenergic signaling in cardiomyocytes
    Axon guidance
    Tight junction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GNAI3
    Interactions:

        Search GeneGlobe Interaction Network for GNAI3

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

    Selected Interacting proteins for GNAI3 (P087542, 3 ENSP000003588674) via UniProtKB, MINT, STRING, and/or I2D (see all 219)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592, 3, ENSP000003549274MINT-48522 I2D: score=2 STRING: ENSP00000354927
    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): Selected biological process terms (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 ----

    Find genes that share ontologies with GNAI3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GNAI3 gene: 
    NM_006496.3  

    Unigene Cluster for GNAI3:

    Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
    Hs.73799  [show with all ESTs]
    Unigene Representative Sequence: NM_006496
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000369851(uc001dxz.2)
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    Additional mRNA sequence: 

    AF493907.1 AK311691.1 AK312252.1 BC025285.1 BT019973.1 BT019974.1 J03005.1 J03198.1 
    J03238.1 M27543.1 

    18 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.95162736  DT.95162747  DT.119094  DT.121457482 
    DT.91800369  DT.95162740 

    Selected AceView cDNA sequences (see all 566):

    AA346004 BM836886 AU102568 BP374607 CF140534 CO247641 AL601613 BM828381 
    BQ773858 AI566867 AW453063 BM543082 AU122331 BQ422829 BE855792 BM828927 
    CA438104 BQ637951 BM463783 AI650354 BM466610 AU134145 AK130069 BM834255 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GNAI3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Neural Tube (Nervous System)
             Telencephalon
    GNAI3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNAI3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.73799
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GNAI3 gene from Selected species (see all 14)    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_010306.31  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
    guanine nucleotide binding protein (G protein), al...
    97(a)
    1 ↔ 1
    4(105749998-105780337)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gnai31 guanine nucleotide binding protein (G protein), alpha more 79(n)
    93.5(a)
      496962  NM_001011471.1  NP_001011471.1 
    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)
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    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

    Find genes that share paralogs with GNAI3           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GNAI3 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GNAI3
    DNA2.0 Custom Variant and Variant Library Synthesis for GNAI3

    (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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    OMIM gene information: 139370   
    OMIM disorders: 602483  
    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

  • 1 disease for GNAI3:    
    About MalaCards
    auriculocondylar syndrome 1


    Find genes that share disorders with GNAI3           About GenesLikeMe

    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)
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    PubMed articles for GNAI3 gene, integrated from 10 sources (see all 106):
    (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. (FEBS Lett. 1987)
    2. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. (PubMed id 22560091)1, 2 Rieder M.J.... Cunningham M.L. (Am. J. Hum. Genet. 2012)
    3. Genome-wide association study of recurrent early-onset major depressive disorder. (PubMed id 20125088)1, 4 Shi J....Levinson D.F. (Mol. Psychiatry 2011)
    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. (Mol. Med. 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. (PLoS ONE 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. (J. Cell Biol. 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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: 2773 HGNC: 4387 AceView: GNAI3 Ensembl:ENSG00000065135 euGenes: HUgn2773
    ECgene: GNAI3 Kegg: 2773 H-InvDB: GNAI3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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