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GNB4 Gene

protein-coding   GIFtS: 66
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)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 41 2
Transducin Beta Chain 42 3
CMTD1F2 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 charcot-marie-tooth disease, dominant intermediate f, and charcot-marie-tooth disease. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   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 Chromatin IP Primers for GNB4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: 

  • Ubiquitination2 at Lys127
  • Modification sites at PhosphoSitePlus

  • See GNB4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_067642.1  
    ENSEMBL proteins: 
     ENSP00000232564   ENSP00000420066   ENSP00000419693   ENSP00000420606  
    Reactome Protein details: Q9HAV0

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    Novus Biologicals GNB4 Protein
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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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)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding ----
    GO:0032403protein complex binding IDA--
         
    GNB4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNB4
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    miRNA
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    miRTarBase miRNAs that target GNB4:
    hsa-mir-21-5p (MIRT030715), hsa-mir-155-5p (MIRT020513), hsa-mir-124-3p (MIRT022248), hsa-mir-27b-3p (MIRT046179), hsa-mir-93-5p (MIRT027970), hsa-mir-29c-3p (MIRT020371)

    Block miRNA regulation of human, mouse, rat GNB4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GNB4 (see all 64):
    hsa-miR-124* hsa-miR-576-3p hsa-miR-1321 hsa-miR-300 hsa-miR-513a-5p hsa-miR-29a hsa-miR-200a hsa-miR-624
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNB4


    (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 COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    nucleus2
    extracellular1
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    GNB4 for ontologies           About GeneDecksing


    (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 GNB4 About   (see all 59)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1ADP signalling through P2Y purinoceptor 12
    G-protein beta-gamma signalling0.90
    Thrombin signalling through proteinase activated receptors (PARs)0.69
    G beta-gamma signalling through PI3Kgamma0.90
    Activation of Kainate Receptors upon glutamate binding0.68
    Signal amplification0.79
    Inhibition of Insulin Secretion by Adrenaline/Noradrenaline0.64
    ADP signalling through P2Y purinoceptor 10.79
    Glucagon-type ligand receptors0.61
    2fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    CXCR4 Pathway0.39
    VEGF and S-1P Signaling0.44
    Alpha-Adrenergic Signaling0.38
    fMLP Pathway0.43
    Huntington's Disease Pathway0.30
    Signal transduction Activation of PKC via G Protein coupled receptor0.42
    3Development 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
    4Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.85
    Glucagon signaling in metabolic regulation0.70
    Aquaporin-mediated transport0.85
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
    5EphB-EphrinB Signaling
    EphB-EphrinB Signaling0.58
    Cytoskeleton remodeling Reverse signaling by ephrin B0.34
    Ephrin-Eph Signaling0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    Selected 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

    Selected Reactome Pathways for GNB4 (see all 20)
        G alpha (12/13) signalling events
    G alpha (z) signalling events
    G-protein activation
    Ca2+ pathway
    Thromboxane signalling through TP receptor

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

    Selected Kegg Pathways  (Kegg details for GNB4) (see all 12):
        Ras signaling pathway
    Chemokine signaling pathway
    PI3K-Akt signaling pathway
    Circadian entrainment
    Retrograde endocannabinoid signaling


    GNB4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GNB4: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GNB4

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

    Selected Interacting proteins for GNB4 (Q9HAV02, 3 ENSP000002325644) via UniProtKB, MINT, STRING, and/or I2D (see all 147)
    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): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0008219cell death IEA--
    GO:0021762substantia nigra development IEP--
    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, 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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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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, Primers from OriGene, and/or QIAGEN )
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    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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    Selected qRT-PCR Assays for microRNAs that regulate GNB4 (see all 64):
    hsa-miR-124* hsa-miR-576-3p hsa-miR-1321 hsa-miR-300 hsa-miR-513a-5p hsa-miR-29a hsa-miR-200a hsa-miR-624
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GNB4
      QuantiTect SYBR Green Assays in human, mouse, rat GNB4
      QuantiFast Probe-based Assays in human, mouse, rat GNB4

    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 

    Selected AceView cDNA sequences (see all 157):

    AA780563 N64377 AW872774 AL596957 AA040196 BE907043 BQ227045 CR591019 
    BC000873 NM_021629 AU077120 BX110271 CR603437 CB044347 BE301768 BF381824 
    AW956198 N54076 AA296479 BM983589 AI457737 BG059574 BM989578 BI906715 

    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™, 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)
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    GNB4 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Semilunar Valves
     
     Kidney (Urinary System)
             Metanephros
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    GNB4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNB4 Protein Expression

    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.
    Abundantly expressed in the axons and Schwann cells of peripheral nerves

        Pathway & Disease-focused RT2 Profiler PCR Array including GNB4: 
              Alzheimer's Disease in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat GNB4
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GNB4 gene from Selected 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 84.22(n)
    95.29(a)
      424974  XM_003641774.2  XP_003641822.2 
    lizard
    (Anolis carolinensis)
    Reptilia GNB46
    guanine nucleotide binding protein (G protein), be...
    95(a)
    1 ↔ 1
    3(2226808-2238565)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gnb41 guanine nucleotide binding protein (G protein), beta more 82.45(n)
    95.29(a)
      549706  NM_001016952.1  NP_001016952.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01087197.16
    gnb4b6
    Uncharacterized protein
    guanine nucleotide binding protein (G protein), be...
    89(a)
    89(a)
    1 ↔ many
    1 ↔ many
    2(4530979-4541827) ENSDARG00000019278
    11(45322434-45355583) ENSDARG00000034480
    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)   --


    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)
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    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), 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 GNB4 (see all 1230)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699084
    Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF)4--see VAR_0699082 G D mis40--------
    VAR_0699094
    Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF)4--see VAR_0699092 K E mis40--------
    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

    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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610863   
    OMIM disorders: 615185  
    UniProtKB/Swiss-Prot: GBB4_HUMAN, Q9HAV0
  • Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]: A form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is
    characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the
    upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes.
    Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 18 diseases for GNB4:    
    About MalaCards
    charcot-marie-tooth disease, dominant intermediate f    charcot-marie-tooth disease    tooth disease    bladder carcinoma
    essential hypertension    huntington's disease    pertussis    hypertension
    colorectal cancer    retinitis    tonsillitis    alzheimer's disease
    thyroiditis    breast cancer    cerebritis    prostatitis
    neuronitis    endotheliitis


    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)
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    PubMed articles for GNB4 gene, integrated from 10 sources (see all 41):
    (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. III (Physiol. Genomics 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. (Pharmacogenet. Genomics 2008)
    3. Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. (PubMed id 23434117)1, 2 Soong B.W....Lee Y.C. (Am. J. Hum. Genet. 2013)
    4. 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. (Anticancer Res. 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. The G protein subunit gene families. (PubMed id 10644457)1, 3 Downes G.B. and Gautam N. (Genomics 1999)
    8. The human G protein beta4 subunit: gene structure, expression, Ggamma and effector interaction. (PubMed id 12782285)1, 9 Rosskopf D....Siffert W. (FEBS Lett. 2003)
    9. 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. (Nat. Genet. 2013)
    10. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)

    (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: 59345 HGNC: 20731 AceView: GNB4 Ensembl:ENSG00000114450 euGenes: HUgn59345
    ECgene: GNB4 Kegg: 59345 H-InvDB: GNB4

    (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 GNB4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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