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GNB2L1 Gene

protein-coding   GIFtS: 65
GCID: GC05M180663

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

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 2-Like
11 2
     H12.32
RACK12 3 5     PIG212
Receptor For Activated C Kinase 11 2     Guanine Nucleotide Binding Protein Beta Polypeptide 2-Like 12
Cell Proliferation-Inducing Gene 21 Protein2 3     Guanine Nucleotide-Binding Protein Subunit Beta-2-Like 12
Guanine Nucleotide-Binding Protein Subunit Beta-Like Protein 12.32 3     Lung Cancer Oncogene 72
Human Lung Cancer Oncogene 7 Protein2 3     Proliferation-Inducing Gene 212
Receptor Of Activated Protein Kinase C 12 3     Protein Homologous To Chicken B Complex Protein, Guanine Nucleotide
Binding2
HLC-72 3     Receptor For Activated C Kinase3
Gnb2-rs12     

External Ids:    HGNC: 43991   Entrez Gene: 103992   Ensembl: ENSG000002046287   OMIM: 1769815   UniProtKB: P632443   

Export aliases for GNB2L1 gene to outside databases

Previous GC identifers: GC05M180713 GC05P181694 GC05M180773 GC05M180596 GC05M175390


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GNB2L1 Gene:
GNB2L1 (guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1) is a protein-coding gene. Diseases associated with GNB2L1 include wells syndrome, and lung cancer. GO annotations related to this gene include protein phosphatase binding and receptor binding. An important paralog of this gene is WDR31.

UniProtKB/Swiss-Prot: GBLP_HUMAN, P63244
Function: Involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. Interacts
with a wide variety of proteins and plays a role in many cellular processes. Component of the 40S ribosomal
subunit involved in translational repression. Binds to and stabilizes activated protein kinase C (PKC),
increasing PKC-mediated phosphorylation. May recruit activated PKC to the ribosome, leading to phosphorylation of
EIF6. Inhibits the activity of SRC kinases including SRC, LCK and YES1. Inhibits cell growth by prolonging the
G0/G1 phase of the cell cycle. Enhances phosphorylation of BMAL1 by PRKCA and inhibits transcriptional activity
of the BMAL1-CLOCK heterodimer. Facilitates ligand-independent nuclear translocation of AR following PKC
activation, represses AR transactivation activity and is required for phosphorylation of AR by SRC. Modulates
IGF1R-dependent integrin signaling and promotes cell spreading and contact with the extracellular matrix.
Involved in PKC-dependent translocation of ADAM12 to the cell membrane. Promotes the ubiquitination and
proteasome-mediated degradation of proteins such as CLEC1B and HIF1A. Required for VANGL2 membrane localization,
inhibits Wnt signaling, and regulates cellular polarization and oriented cell division during gastrulation.
Required for PTK2/FAK1 phosphorylation and dephosphorylation. Regulates internalization of the muscarinic
receptor CHRM2. Promotes apoptosis by increasing oligomerization of BAX and disrupting the interaction of BAX
with the anti-apoptotic factor BCL2L. Inhibits TRPM6 channel activity. Regulates cell surface expression of some
GPCRs such as TBXA2R. Plays a role in regulation of FLT1-mediated cell migration. Binds to Y.pseudotuberculosis
yopK which leads to inhibition of phagocytosis and survival of bacteria following infection of host cells.
Enhances phosphorylation of HIV-1 Nef by PKCs. Promotes migration of breast carcinoma cells by binding to and
activating RHOA

Gene Wiki entry for GNB2L1 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_000005.10  NC_018916.2  NT_023133.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNB2L1 gene promoter:
         STAT5B   TBP   p53   Brachyury   Bach2   GATA-2   HNF-1A   HNF-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNB2L1 promoter sequence
   Search Chromatin IP Primers for GNB2L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNB2L1


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

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

GNB2L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNB2L1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M180663:  view genomic region     (about GC identifiers)

Start:
180,663,909 bp from pter      End:
180,675,096 bp from pter
Size:
11,188 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GBLP_HUMAN, P63244 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein subunit beta-2-like 1  
Size: 317 amino acids; 35077 Da
Subunit: Component of the small (40S) ribosomal subunit (By similarity). Interacts with the 80S ribosome. Exists
as a monomer and also forms oligomers. Binds SLC9A3R1. Forms a ternary complex with TRIM63 and PRKCE. Interacts
with HABP4, KRT1 and OTUB1. Interacts with SRC (via SH2 domain); the interaction is enhanced by tyrosine
phosphorylation of GNB2L1/RACK1. Recruited in a circadian manner into a nuclear complex which also includes BMAL1
and PRKCA. Interacts with AR. Interacts with IGF1R but not with INSR. Interacts with ADAM12. Interacts with
CLEC1B (via N-terminal region) and with HIF1A; the interaction promotes their degradation. Interacts with RHOA;
this enhances RHOA activation and promotes cell migration. Interacts with CHRM2; the interaction regulates CHRM2
internalization. Interacts with TRPM6 (via kinase domain). Interacts with PTK2/FAK1; required for PTK2/FAK1
phosphorylation and dephosphorylation. Interacts with FLT1. Interacts with TBXA2R isoform 2. Interacts with HRAS.
Interacts with LARP4B. Interacts with PKD2L1. Interacts with Y.pseudotuberculosis yopK. Interacts with a number
of viral proteins including Epstein-Barr virus BZLF1 and HIV-1 Nef; interaction with Nef increases Nef
phosphorylation by PKC
Sequence caution: Sequence=AAO21313.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAR24619.1; Type=Frameshift; Positions=94;
2 PDB 3D structures from and Proteopedia for GNB2L1:
3J3A (3D)        4AOW (3D)    
Secondary accessions: B3KTJ0 D3DWS0 P25388 P99049 Q53HU2 Q5J8M6 Q5VLR4 Q6FH47

Explore the universe of human proteins at neXtProt for GNB2L1: NX_P63244

Explore proteomics data for GNB2L1 at MOPED

Post-translational modifications: 

  • Phosphorylated on Tyr-228 and/or Tyr-246 by SRC. This is required for binding to SRC1
  • Ubiquitination2 at Lys12, Lys38, Lys44, Lys106, Lys130, Lys139, Lys172, Lys175, Lys183, Lys185,
                                 Lys212, Lys257, Lys264, Lys271
  • Modification sites at PhosphoSitePlus

  • See GNB2L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006089.1  
    ENSEMBL proteins: 
     ENSP00000420936   ENSP00000422198   ENSP00000426708   ENSP00000424654   ENSP00000426960  
     ENSP00000422316   ENSP00000426101   ENSP00000421838   ENSP00000427677   ENSP00000424760  
     ENSP00000366013   ENSP00000426909   ENSP00000426046   ENSP00000422768   ENSP00000425008  
     ENSP00000423569   ENSP00000422029   ENSP00000421416   ENSP00000426111   ENSP00000426270  
     ENSP00000424237   ENSP00000421356   ENSP00000394470  

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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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    HGNC Gene Families:
    WDR: WD repeat domain containing

    5 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry P63244

    ProtoNet protein and cluster: P63244

    UniProtKB/Swiss-Prot: GBLP_HUMAN, P63244
    Similarity: Belongs to the WD repeat G protein beta family
    Similarity: Contains 7 WD repeats


    GNB2L1 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: GBLP_HUMAN, P63244
    Function: Involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. Interacts
    with a wide variety of proteins and plays a role in many cellular processes. Component of the 40S ribosomal
    subunit involved in translational repression. Binds to and stabilizes activated protein kinase C (PKC),
    increasing PKC-mediated phosphorylation. May recruit activated PKC to the ribosome, leading to phosphorylation of
    EIF6. Inhibits the activity of SRC kinases including SRC, LCK and YES1. Inhibits cell growth by prolonging the
    G0/G1 phase of the cell cycle. Enhances phosphorylation of BMAL1 by PRKCA and inhibits transcriptional activity
    of the BMAL1-CLOCK heterodimer. Facilitates ligand-independent nuclear translocation of AR following PKC
    activation, represses AR transactivation activity and is required for phosphorylation of AR by SRC. Modulates
    IGF1R-dependent integrin signaling and promotes cell spreading and contact with the extracellular matrix.
    Involved in PKC-dependent translocation of ADAM12 to the cell membrane. Promotes the ubiquitination and
    proteasome-mediated degradation of proteins such as CLEC1B and HIF1A. Required for VANGL2 membrane localization,
    inhibits Wnt signaling, and regulates cellular polarization and oriented cell division during gastrulation.
    Required for PTK2/FAK1 phosphorylation and dephosphorylation. Regulates internalization of the muscarinic
    receptor CHRM2. Promotes apoptosis by increasing oligomerization of BAX and disrupting the interaction of BAX
    with the anti-apoptotic factor BCL2L. Inhibits TRPM6 channel activity. Regulates cell surface expression of some
    GPCRs such as TBXA2R. Plays a role in regulation of FLT1-mediated cell migration. Binds to Y.pseudotuberculosis
    yopK which leads to inhibition of phagocytosis and survival of bacteria following infection of host cells.
    Enhances phosphorylation of HIV-1 Nef by PKCs. Promotes migration of breast carcinoma cells by binding to and
    activating RHOA

         Genatlas biochemistry entry for GNB2L1:
    guanine nucleotide binding protein (G protein),beta 2 like 1,involved in membrane aanchorage of protein kinase
    C,homolog of a beta subunit implicated in membrane anchorage of the beta adrenergic receptor

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005080protein kinase C binding IDA11279199
    GO:0005102receptor binding NAS12809483
    GO:0005515protein binding IPI10849009
    GO:0008200ion channel inhibitor activity ISS--
    GO:0008656cysteine-type endopeptidase activator activity involved in apoptotic process IMP19767770
         
    GNB2L1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GNB2L1:
     Cytoplasmic 40S maturation def  Nuclear pre-40S maturation def 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNB2L1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNB2L1

    miRNA
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    miRTarBase miRNAs that target GNB2L1:
    hsa-mir-1226-3p (MIRT036490), hsa-mir-877-5p (MIRT037295), hsa-mir-124-3p (MIRT022376), hsa-mir-196b-5p (MIRT042687), hsa-mir-132-3p (MIRT045841), hsa-mir-296-3p (MIRT038427), hsa-mir-324-3p (MIRT042818), hsa-mir-23b-3p (MIRT046286), hsa-mir-186-5p (MIRT044905), hsa-mir-29b-3p (MIRT048375), hsa-mir-324-5p (MIRT043051), hsa-mir-744-5p (MIRT037457), hsa-mir-18a-5p (MIRT050672), hsa-mir-30c-2-3p (MIRT038703), hsa-mir-183-5p (MIRT047084), hsa-mir-1180-3p (MIRT035920)

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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
    GBLP_HUMAN, P63244: Cell membrane; Peripheral membrane protein. Cytoplasm. Cytoplasm, perinuclear region.
    Cytoplasm, cytoskeleton. Nucleus. Perikaryon (By similarity). Cell projection, dendrite (By similarity). Cell
    projection, phagocytic cup. Note=Recruited to the plasma membrane through interaction with KRT1 which binds to
    membrane-bound ITGB1. Also associated with the membrane in oncogene-transformed cells. PKC activation induces
    translocation from the perinuclear region to the cell periphery. In the brain, detected mainly in cell bodies and
    dendrites with little expression in axonal fibers or nuclei. Localized to phagocytic cups following infection by
    Y.pestis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    plasma membrane5
    cytosol3
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001891phagocytic cup IDA--
    GO:0005634nucleus IDA10849009
    GO:0005737cytoplasm IDA10849009
    GO:0005739mitochondrion IMP19767770
    GO:0005829cytosol IMP19767770

    GNB2L1 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 GNB2L1 About   (see all 19)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38
    2CREB Pathway
    Activation of PKC through GPCR0.63
    3ERK Signaling
    Molecular Mechanisms of Cancer0.51
    4Influenza A
    Measles0.34
    5Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNB2L1
        Molecular Mechanisms of Cancer
    Activation of PKC through GPCR

    3 Cell Signaling Technology (CST) Pathways for GNB2L1
        Translational Control
    Ca, cAMP and Lipid Signaling
    Cytoskeletal Signaling

    3 GeneGo (Thomson Reuters) Pathways for GNB2L1
        Regulation of CFTR activity (norm and CF)
    Immune response Role of integrins in NK cells cytotoxicity
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

    Selected BioSystems Pathways for GNB2L1 (see all 11)
        BDNF signaling pathway
    Interferon type I
    Androgen receptor signaling pathway
    TNF-alpha/NF-kB Signaling Pathway
    IL-3 Signaling Pathway



    1 Kegg Pathway  (Kegg details for GNB2L1):
        Measles


    GNB2L1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GNB2L1
    Interactions:

        GeneGlobe Interaction Network for GNB2L1

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

    Selected Interacting proteins for GNB2L1 (P632441, 2, 3 ENSP000003660134) via UniProtKB, MINT, STRING, and/or I2D (see all 562)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=2 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation IDA11312657
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IMP19767770
    GO:0007049cell cycle IEA--
    GO:0007369gastrulation IEA--
    GO:0016032viral process IEA--

    GNB2L1 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
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    Browse Tocris compounds for GNB2L1 (GBLP)

    Selected Novoseek inferred chemical compound relationships for GNB2L1 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phorbol-12-myristate 55 3 14699138 (1), 11543740 (1), 18621736 (1)
    geranylgeranyl pyrophosphate 53 5 12506405 (3), 15039989 (1), 15796907 (1)
    17-(allylamino)-17-demethoxygeldanamycin 50.3 2 17244529 (1), 17361105 (1)
    pmas 49.4 1 12963340 (1)
    pkcs 48.1 1 19966859 (1)
    tyrosine 41.9 38 12400005 (6), 17108144 (3), 11279199 (3), 15184885 (2) (see all 18)
    threonine 32.3 2 11279199 (1)
    farnesyl diphosphate 31.3 3 12506405 (2), 15039989 (1)
    inositol 1,4,5 trisphosphate 30.1 6 14983009 (2), 10529223 (1), 18755685 (1)
    serine 20.4 2 11279199 (1)



    GNB2L1 for compounds           About GeneDecksing



    (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,
    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 GNB2L1 gene: 
    NM_006098.4  

    Unigene Cluster for GNB2L1:

    Guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1
    Hs.5662  [show with all ESTs]
    Unigene Representative Sequence: BF312441
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 35):
    ENST00000511473(uc003mni.1 uc003mnj.1) ENST00000504325 ENST00000514455
    ENST00000509148 ENST00000502905 ENST00000507756 ENST00000511566 ENST00000507273
    ENST00000509535 ENST00000504128 ENST00000508682 ENST00000376817 ENST00000512805
    ENST00000504726 ENST00000511900 ENST00000513060 ENST00000512968 ENST00000510199

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK095666.1 AK222488.1 AK301029.1 AK301468.1 AK303316.1 AK310916.1 AY336089.1 BC000214.1 
    BC000366.2 BC010119.2 BC014256.1 BC014788.1 BC017287.2 BC019093.2 BC019362.1 BC021993.1 
    BC029996.1 BC032006.1 BC035460.1 CR456978.1 CR541909.1 D28398.1 GU727632.1 JN104586.1 
    M24194.1 

    Selected DOTS entries (see all 143):

    DT.91782798  DT.95216507  DT.100737098  DT.100737153  DT.100060394  DT.100737172  DT.100737139  DT.100737103 
    DT.100842309  DT.100060381  DT.100737124  DT.97869752  DT.100737146  DT.100060385  DT.100737092  DT.120826223 
    DT.92324968  DT.95268530  DT.91936705  DT.100737128  DT.95268502  DT.91972228  DT.120826313  DT.95157167 

    Selected AceView cDNA sequences (see all 4437):

    BM801921 CB126042 BQ061117 AI332307 BE386013 BM830672 BG253116 BQ019552 
    BQ277973 BF878800 BU183694 BU153144 BU160329 BQ899041 BI518591 BQ222989 
    CR593549 BM999479 BM905659 BM479015 BQ961572 BM016139 BM912766 BQ431108 

    GeneLoc Exon Structure


    (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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    GNB2L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATGGGATC
    GNB2L1 Expression
    About this image


    GNB2L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Endoderm (Gastrulation Derivatives)
             Endoderm-like cells
     
     Tonsil (Hematopoietic System)
    GNB2L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNB2L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.5662

    UniProtKB/Swiss-Prot: GBLP_HUMAN, P63244
    Tissue specificity: In the liver, expressed at higher levels in activated hepatic stellate cells than in
    hepatocytes or Kupffer cells. Up-regulated in hepatocellular carcinomas and in the adjacent non-tumor liver
    tissue

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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 eukaryotes.

    Orthologs for GNB2L1 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnb2l11 , 5 guanine nucleotide binding protein (G protein), beta more1, 5 90.85(n)1
    100(a)1
      11 (28.77 cM)5
    146941  NM_008143.31  NP_032169.11 
     488003325 
    chicken
    (Gallus gallus)
    Aves GNB2L11 guanine nucleotide binding protein (G protein), beta more 85.38(n)
    100(a)
      417044  NM_001004378.2  NP_001004378.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNB2L16
    guanine nucleotide binding protein (G protein), be...
    100(a)
    1 ↔ 1
    2(188772655-188790979)
    African clawed frog
    (Xenopus laevis)
    Amphibia gnb2l1-prov2 guanine nucleotide binding protein, beta 2, related more 80.56(n)    BC041541.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gnb2l12 guanine nucleotide binding protein (G protein), beta more 83.57(n)   30722  AF025330.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rack11 , 3 protein kinase C binding3
    Receptor of activated protein kinase C 11
    77(a)3
    72.51(n)1
    77.39(a)1
      28D13
    340701  NM_001273289.11  NP_001260218.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K04D7.13
    rack-11
    guanine nucleotide-binding protein3
    rack-11
    69(a)3
    68.05(n)1
    73.57(a)1
      IV(10176884-10178004)3
    1778951  NM_069458.41  NP_501859.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ASC1(YMR116C)4
    ASC11
    G-protein beta subunit and guanine nucleotide dissociation more4
    ASC11
    54.83(n)1
    55.05(a)1
      13(500688-499456)4
    8551431, 4  NP_013834.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RACK1C_AT1 RACK1C_AT 61.97(n)
    68.59(a)
      821338  NM_112695.2  NP_188441.1 
    rice
    (Oryza sativa)
    Liliopsida AK062179.12   -- 74(n)    AK062179.1 


    ENSEMBL Gene Tree for GNB2L1 (if available)
    TreeFam Gene Tree for GNB2L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GNB2L1 gene
    WDR312  
    Selected SIMAP similar genes for GNB2L1 using alignment to 23 protein entries:     GBLP_HUMAN (see all proteins) (see all similar genes):
    HC6    SNRPF    RBP7    RHBG    KIAA1651    SEC14L3
    IK    PARK2    MST132    pp12301    COQ5    NLN
    MLL5    SEPSECS    SH2B3    GEMIN6    C14orf23    EEF1E1

    GNB2L1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for GNB2L1
    PGOHUM00000240014 PGOHUM00000250723 PGOHUM00000235726


    (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 GNB2L1 (see all 225)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1884636321,2
    --180663436(+) TTCTGC/GTGAGA 1 -- ds50010--------
    rs733659841,2
    C,F--180663549(+) TTTAGA/CGGAAT 1 -- ds50012Minor allele frequency- C:0.07WA 120
    rs780782581,2
    C,F--180663550(+) TTAGAG/AGAATG 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs786259081,2
    C,F--180663564(+) ATTCAT/CCTTCC 1 -- ds50013Minor allele frequency- C:0.04CSA WA NA 240
    rs355166661,2
    C--180663637(+) TTTGA-/AATAATCA 1 -- cds10--------
    rs668031831,2
    C--180663638(+) TTGAA-/AA/AAT
            
    ATCAG
    2 -- ds5001 cds10--------
    rs27709941,2
    C,F,O,A,H--180663700(+) CACGTG/AGTATG 1 -- ds500132Minor allele frequency- A:0.27NS NA EA WA CSA 3011
    rs1504253101,2
    --180663706(+) GTATGC/TAGGAC 1 -- ds50010--------
    rs762558081,2
    C,F--180663749(+) TGTGAC/GTTCTC 1 -- ds50012Minor allele frequency- G:0.07WA 120
    rs1999981391,2
    --180663805(+) ACAGC-/TCCCCT
            
    TCCCC
    1 -- cds10--------

    HapMap Linkage Disequilibrium report for GNB2L1 (180663909 - 180675096 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GNB2L1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv462591CNV Loss19166990
    nsv830567CNV Loss17160897
    nsv517697CNV Loss19592680
    dgv6408n71CNV Loss21882294
    dgv6409n71CNV Loss21882294
    nsv883305CNV Gain21882294
    nsv428133CNV Gain18775914

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GNB2L1
    DNA2.0 Custom Variant and Variant Library Synthesis for GNB2L1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 176981    OMIM disorders: --

    Selected diseases for GNB2L1 (see all 34):    
    About MalaCards
    wells syndrome    lung cancer    endocarditis    epididymitis
    leishmaniasis    measles    papillary thyroid carcinoma    retinoblastoma
    squamous cell carcinoma    down syndrome    bipolar disorder    oral squamous cell carcinoma
    cystic fibrosis    esophageal squamous cell carcinoma    alzheimer's disease    influenza
    prostate cancer    thyroiditis    prostatitis    esophagitis

    1 disease from the University of Copenhagen DISEASES database for GNB2L1:
    Leishmaniasis

    GNB2L1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10 Novoseek inferred disease relationships for GNB2L1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma squamous cell 13.4 10 18458027 (4), 19087901 (2), 15467455 (1), 17327703 (1)
    tumors 1.47 6 11099474 (2), 11358958 (1), 19892429 (1), 18567578 (1)
    necrosis 0 3 12437589 (2), 16452584 (1)
    breast cancer 0 2 12385007 (1), 17936896 (1)
    adenocarcinoma 0 3 19892429 (3)
    alzheimers disease 0 1 9876970 (1)
    carcinoma 0 2 11099474 (1), 12645342 (1)
    prostate cancer 0 1 17108144 (1)
    cancer 0 3 11099474 (1), 18458027 (1), 20046837 (1)
    retinoblastoma 0 1 12734388 (1)

    Genetic Association Database (GAD): GNB2L1
    Human Genome Epidemiology (HuGE) Navigator: GNB2L1 (1 document)

    Export disorders for GNB2L1 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 GNB2L1 gene, integrated from 10 sources (see all 315):
    (articles sorted by number of sources associating them with GNB2L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Physical linkage of a guanine nucleotide-binding protein-related gene to the chicken major histocompatibility complex. (PubMed id 2499885)1, 2, 3 Guillemot F.... Auffray C. (Proc. Natl. Acad. Sci. U.S.A. 1989)
    2. RACK1: a novel substrate for the Src protein-tyrosine kinase. (PubMed id 12400005)1, 2, 9 Chang B.Y.... Cartwright C.A. (Oncogene 2002)
    3. Phosphorylation of RACK1 on tyrosine 52 by c-Abl is required for insulin-like growth factor I-mediated regulation of focal adhesion kinase. (PubMed id 19423701)1, 2, 9 Kiely P.A.... O'Connor R. (J. Biol. Chem. 2009)
    4. The interaction of Src and RACK1 is enhanced by activation of protein kinase C and tyrosine phosphorylation of RACK1. (PubMed id 11279199)1, 2, 9 Chang B.Y.... Cartwright C.A. (J. Biol. Chem. 2001)
    5. RACK1 competes with HSP90 for binding to HIF-1alpha and is required for O(2)-independent and HSP90 inhibitor-induced degradation of HIF- 1alpha. (PubMed id 17244529)1, 2, 9 Liu Y.V.... Semenza G.L. (Mol. Cell 2007)
    6. RACK1, a receptor for activated C kinase and a homolog of the beta subunit of G proteins, inhibits activity of src tyrosine kinases and growth of NIH 3T3 cells. (PubMed id 9584165)1, 2, 9 Chang B.Y.... Cartwright C.A. (Mol. Cell. Biol. 1998)
    7. RACK1, a new ADAM12 interacting protein. Contribution to liver fibrogenesis. (PubMed id 18621736)1, 2, 9 Bourd-Boittin K....Theret N. (J. Biol. Chem. 2008)
    8. Cloning of an intracellular receptor for protein kinase C: a homolog of the beta subunit of G proteins. (PubMed id 8302854)1, 3, 9 Ron D....Mochly-Rosen D. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    9. The scaffolding protein RACK1 interacts with androgen receptor and promotes cross-talk through a protein kinase C signaling pathway. (PubMed id 12958311)1, 2, 9 Rigas A.C.... Robson C.N. (J. Biol. Chem. 2003)
    10. Receptor for activated C kinase 1 (RACK1) and Src regulate the tyrosine phosphorylation and function of the androgen receptor. (PubMed id 17108144)1, 2, 9 Kraus S.... Weber M.J. (Cancer Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 10399 HGNC: 4399 AceView: GNB2L1 Ensembl:ENSG00000204628 euGenes: HUgn10399
    ECgene: GNB2L1 Kegg: 10399 H-InvDB: GNB2L1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for GNB2L1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GNB2L1 Genetics and Cytogenetics in Oncology and Haematology

    (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 GNB2L1 gene:
    Search GeneIP for patents involving GNB2L1

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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