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

GNB4 Gene

protein-coding   GIFtS: 64
GCID: GC03M179113

Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide...

  See related diseases
at  

(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), Beta Polypeptide 41 2
Transducin Beta Chain 42 3
CMTD1F2
G Protein Beta-4 Subunit2
Guanine Nucleotide-Binding Protein Subunit Beta-42

External Ids:    HGNC: 207311   Entrez Gene: 593452   Ensembl: ENSG000001144507   OMIM: 6108635   UniProtKB: Q9HAV03   

Export aliases for GNB4 gene to outside databases

Previous GC identifers: GC03M175882 GC03M179959 GC03M180519 GC03M180437 GC03M180599 GC03M176517


(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 GNB4 Gene:
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and
effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families
of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as
well as of certain signal transduction receptors and effectors. (provided by RefSeq, Jul 2008)

GeneCards Summary for GNB4 Gene: 
GNB4 (guanine nucleotide binding protein (G protein), beta polypeptide 4) is a protein-coding gene. Diseases associated with GNB4 include bladder carcinoma, and essential hypertension, and among its related super-pathways are G beta:gamma signalling through PLC beta and fMLP Pathway. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is GNB2.

UniProtKB/Swiss-Prot: GBB4_HUMAN, Q9HAV0
Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various
transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement
of GDP by GTP, and for G protein-effector interaction

summary for GNB4 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; in addition, some
Gbetagamma subunits have active functions. Gbetagamma coupled to H1 receptors can activate PLA2 and
Gbetagamma coupled to M1 receptors can activate KIR channels.

Gene Wiki entry for GNB4 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_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GNB4 gene promoter:
         Sox5   NF-AT   C/EBPalpha   AREB6   CHOP-10   NF-AT4   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNB4 promoter sequence
   Search SABiosciences Chromatin IP Primers for GNB4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNB4


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

Entrez Gene cytogenetic band: 3q26.33   Ensembl cytogenetic band:  3q26.33   HGNC cytogenetic band: 3q27.1

GNB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNB4 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M179113:  view genomic region     (about GC identifiers)

Start:
179,113,876 bp from pter      End:
179,169,378 bp from pter
Size:
55,503 bases      Orientation:
minus 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: GBB4_HUMAN, Q9HAV0 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein subunit beta-4  
Size: 340 amino acids; 37567 Da
Subunit: G proteins are composed of 3 units, alpha, beta and gamma
Secondary accessions: B3KMH5 D3DNR8

Explore the universe of human proteins at neXtProt for GNB4: NX_Q9HAV0

Explore proteomics data for GNB4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HAV0

  • GNB4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GNB4 Protein Expression
    REFSEQ proteins: NP_067642.1  
    ENSEMBL proteins: 
     ENSP00000232564   ENSP00000420066   ENSP00000419693   ENSP00000420606  
    Reactome Protein details: Q9HAV0
    Human Recombinant Protein Products for GNB4: 
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    Novus Biologicals GNB4 Protein
    Novus Biologicals GNB4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005886plasma membrane TAS--

    GNB4 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    5/7 InterPro protein domains (see all 7):
     IPR019775 WD40_repeat_CS
     IPR016346 Guanine_nucleotide-bd_bsu
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR001632 Gprotein_B

    Graphical View of Domain Structure for InterPro Entry Q9HAV0

    ProtoNet protein and cluster: Q9HAV0

    2 Blocks protein domains:
    IPB001632 Beta G-protein (transducin) signature
    IPB001680 G-protein beta WD-40 repeat signature


    UniProtKB/Swiss-Prot: GBB4_HUMAN, Q9HAV0
    Similarity: Belongs to the WD repeat G protein beta family
    Similarity: Contains 7 WD repeats


    GNB4 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: GBB4_HUMAN, Q9HAV0
    Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various
    transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement
    of GDP by GTP, and for G protein-effector interaction

         Genatlas biochemistry entry for GNB4:
    guanine nucleotide binding protein 4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding ----
         
    GNB4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GNB4 
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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 GNB4 About   (see all 59)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Prostacyclin signalling through prostacyclin receptor
    G-protein beta:gamma signalling0.89
    Activation of Kainate Receptors upon glutamate binding0.70
    G beta:gamma signalling through PI3Kgamma0.89
    Inhibition of Insulin Secretion by Adrenaline/Noradrenaline0.61
    Prostacyclin signalling through prostacyclin receptor0.77
    Glucagon-type ligand receptors0.58
    G beta:gamma signalling through PLC beta0.77
    G-Protein Signaling through Tubby Protein0.38
    2fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    CXCR4 Pathway0.39
    VEGF and S-1P Signaling0.44
    Alpha-Adrenergic Signaling0.38
    fMLP Pathway0.43
    Signal transduction Calcium signaling0.34
    Signal transduction Activation of PKC via G-Protein coupled receptor0.42
    Huntington's Disease Pathway0.30
    3Thromboxane signalling through TP receptor
    Signal amplification0.78
    Thrombin signalling through proteinase activated receptors (PARs)0.67
    ADP signalling through P2Y purinoceptor 10.78
    Development Angiotensin signaling via beta-Arrestin0.40
    Thromboxane signalling through TP receptor0.78
    4Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.84
    G alpha (z) signalling events0.49
    Aquaporin-mediated transport0.84
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
    Glucagon signaling in metabolic regulation0.69
    5Development Dopamine D2 receptor transactivation of EGFR
    Development Dopamine D2 receptor transactivation of EGFR0.66
    Apoptosis and survival BAD phosphorylation0.41
    Development Alpha-2 adrenergic receptor activation of ERK0.66
    BAD Phosphorylation0.41
    Chemotaxis CXCR4 signaling pathway0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/31 EMD Millipore Pathways for GNB4 (see all 31)
        Chemotaxis CXCR4 signaling pathway
    Translation Translation regulation by Alpha-1 adrenergic receptors
    Development Activation of ERK by Alpha-1 adrenergic receptors
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Development A1 receptor signaling

    5/71 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GNB4 (see all 71)
        Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    CDK5 Pathway
    JNK Pathway
    ERK5 Signaling

    5/34 GeneGo (Thomson Reuters) Pathways for GNB4 (see all 34)
        Signal transduction cAMP signaling
    G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    G-protein signaling G-Protein alpha-i signaling cascades
    Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions
    Signal transduction Activation of PKC via G-Protein coupled receptor

    2 BioSystems Pathways for GNB4
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell

    5/40        Reactome Pathways for GNB4 (see all 40)
        G alpha (12/13) signalling events
    Platelet homeostasis
    G alpha (z) signalling events
    G-protein activation
    Signal Transduction

    1 PharmGKB Pathway for GNB4
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics

    5/11         Kegg Pathways  (Kegg details for GNB4) (see all 11):
        Chemokine signaling pathway
    PI3K-Akt signaling pathway
    Circadian entrainment
    Retrograde endocannabinoid signaling
    Glutamatergic synapse


    GNB4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GNB4

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

    5/55 Interacting proteins for GNB4 (Q9HAV02, 3 ENSP000002325644) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RIPK3Q9Y5722, 3MINT-49095 I2D: score=2 
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    ENSG00000223952P013753I2D: score=1 
    ENSG00000228321P013753I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0008219cell death IEA--
    GO:0044281small molecule metabolic process TAS--
    GO:0071377cellular response to glucagon stimulus TAS--

    GNB4 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 GNB4 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 GNB4    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 GNB4 / GBB4

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 GNB4 gene: 
    NM_021629.3  

    Unigene Cluster for GNB4:

    Guanine nucleotide binding protein (G protein), beta polypeptide 4
    Hs.173030  [show with all ESTs]
    Unigene Representative Sequence: NM_021629
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000232564(uc003fju.4 uc003fjv.4) ENST00000466899 ENST00000468623
    ENST00000465153 ENST00000497513
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    Additional mRNA sequence: 

    AF300648.1 AK001890.1 AK022599.1 AK091332.1 AK290571.1 AK297174.1 AK310009.1 BC000873.1 

    8 DOTS entries:

    DT.208481  DT.414962  DT.100729086  DT.120864996  DT.100035740  DT.100683393  DT.120865021  DT.91866943 

    24/157 AceView cDNA sequences (see all 157):

    AW630232 BE018289 AI457737 BE301768 BQ227045 BM989578 N54076 BC000873 
    BM983589 AW872774 BF381824 N64377 BX110271 CR603437 CR591019 AU077120 
    CA441595 AU279411 CB044347 AA040196 AF300648 AA296479 BI906715 AW956198 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GNB4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
    SP1:              -     -                                                                           
    SP2:                    -                                                                           
    SP3:              -                                                                                 
    SP4:                                                                                -               


    ECgene alternative splicing isoforms for GNB4

    (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

    GNB4 expression in normal human tissues (normalized intensities)      GNB4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTAACTGT
    GNB4 Expression
    About this image


    GNB4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/32 selected tissues (see all 32) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             ganglion/cranial/facial VII   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Semilunar Valves
             heart/valve/pulmonary valve   
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Metanephros
             kidney ; cells in tubules   

    See GNB4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNB4

    SOURCE GeneReport for Unigene cluster: Hs.173030

    UniProtKB/Swiss-Prot: GBB4_HUMAN, Q9HAV0
    Tissue specificity: Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart

        SABiosciences Expression via Pathway-Focused PCR Array including GNB4: 
              Alzheimer's Disease in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNB4

    (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 and fungi.

    Orthologs for GNB4 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnb41 , 5 guanine nucleotide binding protein (G protein), beta more1, 5 85.2(n)1
    96.76(a)1
      3 (15.78 cM)5
    146961  NM_013531.41  NP_038559.21 
     325803325 
    chicken
    (Gallus gallus)
    Aves GNB41 guanine nucleotide binding protein (G protein), beta more 83.85(n)
    95.06(a)
      424974  XM_003641774.1  XP_003641822.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNB46
    Uncharacterized protein
    95(a)
    1 ↔ 1
    3(2226808-2238565)
    zebrafish
    (Danio rerio)
    Actinopterygii gnb4b6
    CABZ01087197.16
    Uncharacterized protein
    89(a)
    88(a)
    1 ↔ many
    1 ↔ many
    11(45322434-45355583)
    2(4530979-4541827)
    fruit fly
    (Drosophila melanogaster)
    Insecta G&bgr;13F3 G-protein coupled receptor protein
    signaling pathway more
    81(a)
    (best of 2)
      13F16   --
    worm
    (Caenorhabditis elegans)
    Secernentea gpb-13 guanine nucleotide-binding protein beta
    subunit
    84(a)   II(11743881-11747549)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes STE46
    G protein beta subunit, forms a dimer with Ste18p ...
    32(a)
    1 → many
    XV(742910-744181)


    ENSEMBL Gene Tree for GNB4 (if available)
    TreeFam Gene Tree for GNB4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GNB4 gene
    GNB22  GNB32  GNB12  WDR472  GNB52  
    8 SIMAP similar genes for GNB4 using alignment to 3 protein entries:     GBB4_HUMAN (see all proteins):
    GNB2    GNB1    GNB3    GNB5    WDR61    GNB2L1
    PF20    WDR83

    GNB4 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

    10/1228 SNPs in GNB4 are shown (see all 1228)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112933341,2
    C--176517003(+) CTCTC-/AAAAAA 1 -- ds50012Minor allele frequency- A:0.25NA CSA 4
    rs673767071,2
    C--176517698(+) GTGTG-/ATTA  
            
    ATTAA
    1 -- ut310--------
    rs2019936301,2
    C--176517701(+) TGATTA/GATTAA 1 -- ut310--------
    rs2009838471,2
    --176517703(+) ATTAA-/TTAATA 1 -- ut310--------
    rs1486775731,2
    C--176530470(+) AAAAA-/AGAAAC 1 -- int10--------
    rs2021875091,2
    --176531486(+) ACAAA-/ACAAAAA 1 -- int10--------
    rs1122364491,2
    C--176531487(+) CAAAA-/CAAAAA 1 -- int11Minor allele frequency- C:0.00CSA 2
    rs1131719391,2
    C--176531487(+) CAAAAC/AAAAAA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs795031181,2
    C--176536387(+) ATGAC-/TATATAA 1 -- int10--------
    rs30869471,2
    C--176536391(+) CTATA-/T/TA  
            
    AAAAG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for GNB4 (179113876 - 179169378 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GNB4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665201CNV Deletion23128226
    nsv4139CNV Insertion18451855
    nsv471116CNV Gain18288195
    nsv829806CNV Gain17160897


    Human Gene Mutation Database (HGMD): GNB4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GNB4
    DNA2.0 Custom Variant and Variant Library Synthesis for GNB4

    (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: 610863    OMIM disorders: --

    9 diseases for GNB4:    About MalaCards
    bladder carcinoma    essential hypertension    huntington's disease    hypertension
    retinitis    colorectal cancer    alzheimer's disease    breast cancer
    neuronitis


    GNB4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GNB4
    Human Genome Epidemiology (HuGE) Navigator: GNB4 (2 documents)

    Export disorders for GNB4 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 GNB4 gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with GNB4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, tissue distribution, and functional expression of the human G protein beta 4-subunit. (PubMed id 11842130)1, 2, 3, 9 Ruiz-Velasco V....Puhl H.L. (2002)
    2. Characterization of intron-1 haplotypes of the G protein beta 4 subunit gene--association with survival and progression in patients with urothelial bladder carcinoma. (PubMed id 18815590)1, 4, 9 Riemann K....Siffert W. (2008)
    3. Association of GNB4 intron-1 haplotypes with survival in patients with UICC stage III and IV colorectal carcinoma. (PubMed id 19414374)1, 4 Riemann K....Siffert W. (2009)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. The G protein subunit gene families. (PubMed id 10644457)1, 3 Downes G.B. and Gautam N. (1999)
    7. The human G protein beta4 subunit: gene structure, expression, Ggamma and effector interaction. (PubMed id 12782285)1, 9 Rosskopf D....Siffert W. (2003)
    8. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. (PubMed id 23583979)1 den Hoed M....Loos R.J. (2013)
    9. Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. (PubMed id 23434117)1 Soong B.W....Lee Y.C. (2013)
    10. The P-body component USP52/PAN2 is a novel regulator o f HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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      (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: 59345 HGNC: 20731 AceView: GNB4 Ensembl:ENSG00000114450 euGenes: HUgn59345
    ECgene: GNB4 Kegg: 59345 H-InvDB: GNB4

    (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 GNB4 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 GNB4 gene:
    Search GeneIP for patents involving GNB4

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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