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GNA11 Gene

protein-coding   GIFtS: 68
GCID: GC19P003094

Guanine Nucleotide Binding Protein (G Protein), Alpha 11...

(Previous name: hypocalciuric hypercalcemia 2)
(Previous symbol: HHC2)
  See GNA11-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), Alpha 11 (Gq Class)1 2     FBH2
HHC21 2 5     FBH22
G Alpha-112 3     FHH22
Guanine Nucleotide-Binding Protein G(Y) Subunit Alpha2 3     GNA-112
G-Protein Subunit Alpha-112 3     Guanine Nucleotide-Binding Protein Subunit Alpha-112
HYPOC22 5     GA113
Hypocalciuric Hypercalcemia 21     

External Ids:    HGNC: 43791   Entrez Gene: 27672   Ensembl: ENSG000000882567   OMIM: 1393135   UniProtKB: P299923   

Export aliases for GNA11 gene to outside databases

Previous GC identifers: GC19P003213 GC19P003163 GC19P003034 GC19P003045 GC19P002861


(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 GNA11 Gene:
The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which
function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3
units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this
gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2).
Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in
extracellular calcium concentrations. (provided by RefSeq, Dec 2013)

GeneCards Summary for GNA11 Gene:
GNA11 (guanine nucleotide binding protein (G protein), alpha 11 (Gq class)) is a protein-coding gene. Diseases associated with GNA11 include hypocalciuric hypercalcemia, type ii, and foramen magnum meningioma. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNAQ.

UniProtKB/Swiss-Prot: GNA11_HUMAN, P29992
Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various
transmembrane signaling systems. Acts as an activator of phospholipase C

summary for GNA11 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; Galphaq/11 stimulates
PLCbeta which catalyses the hydrolysis of PIP2 to the second messengers IP3 and DAG.

Gene Wiki entry for GNA11 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNA11 gene promoter:
         Pax-5   p53   Pax-2   Pax-2a   HEN1   CREB   deltaCREB   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GNA11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNA11


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

GNA11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNA11 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P003094:  view genomic region     (about GC identifiers)

Start:
3,094,408 bp from pter      End:
3,124,002 bp from pter
Size:
29,595 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GNA11_HUMAN, P29992 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein subunit alpha-11  
Size: 359 amino acids; 42123 Da
Subunit: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine
nucleotide binding site
Secondary accessions: O15109 Q14350 Q6IB00

Explore the universe of human proteins at neXtProt for GNA11: NX_P29992

Explore proteomics data for GNA11 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys27, Lys102, Lys107
  • Modification sites at PhosphoSitePlus

  • See GNA11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002058.2  
    ENSEMBL proteins: 
     ENSP00000078429   ENSP00000465935  
    Reactome Protein details: P29992

    GNA11 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GNA11 

     
    antibodies-online proteins for GNA11 (8 products) 

     
    antibodies-online peptides for GNA11

    GNA11 Antibody Products:

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    antibodies-online antibodies for GNA11 (30 products) 

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    antibodies-online kits for GNA11 (13 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001019 Gprotein_alpha_su
     IPR000654 Gprotein_alpha_Q
     IPR011025 GproteinA_insert
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P29992

    ProtoNet protein and cluster: P29992

    2 Blocks protein domains:
    IPB000654 G-protein alpha subunit group Q signature
    IPB001019 Alpha G-protein (transducin) signature


    UniProtKB/Swiss-Prot: GNA11_HUMAN, P29992
    Similarity: Belongs to the G-alpha family. G(q) subfamily


    Find genes that share domains with GNA11           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: GNA11_HUMAN, P29992
    Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various
    transmembrane signaling systems. Acts as an activator of phospholipase C

         Genatlas biochemistry entry for GNA11:
    guanine nucleotide binding protein (G protein),alpha 11 (Gq class),mediating pertussis toxin-resistant stimulation
    of phospholipase C beta

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding IBA--
    GO:0003924GTPase activity IEA--
    GO:0004871signal transducer activity IBA--
    GO:0005525GTP binding IEA--
    GO:0019001guanyl nucleotide binding ----
         
    Find genes that share ontologies with GNA11           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for GNA11:
     Decreased Hepatitis C virus re  Increased gamma-H2AX phosphory 

         Selected MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gna11) (see all 21):
     behavior/neurological  cardiovascular system  craniofacial  endocrine/exocrine gland  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with GNA11           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gna11tm1Soff for GNA11

       genOway: Develop your customized and physiologically relevant rodent model for GNA11

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate GNA11:
    hsa-miR-548d-3p hsa-miR-331-3p
    SwitchGear 3'UTR luciferase reporter plasmidGNA11 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GNA11_HUMAN, P29992: Cell membrane; Lipid-anchor (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    extracellular2
    cytoskeleton1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS9175863
    GO:0005765lysosomal membrane IDA17897319
    GO:0005834heterotrimeric G-protein complex IBA--
    GO:0005886plasma membrane TAS--
    GO:0031234extrinsic component of cytoplasmic side of plasma membrane IBA--

    Find genes that share ontologies with GNA11           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GNA11 About   (see all 64)  
    See pathways by source

    SuperPathContained pathways About
    1fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    Signal transduction Activation of PKC via G Protein coupled receptor0.42
    VEGF and S-1P Signaling0.44
    CXCR4 Pathway0.39
    fMLP Pathway0.43
    Huntington's Disease Pathway0.30
    2Development Endothelin 1 EDNRA signaling
    Development Endothelin 1 EDNRA signaling0.41
    Cytoskeleton remodeling FAK signaling0.41
    Development Endothelin 1 EDNRA transactivation of EGFR0.41
    GnRH signaling pathway0.38
    3Development Angiotensin activation of ERK
    Development Angiotensin activation of ERK0.74
    Development EDNRB signaling0.54
    Development Angiotensin signaling via PYK20.67
    Cell adhesion Integrin inside out signaling0.44
    Development G Proteins mediated regulation MARK ERK signaling0.66
    Signal transduction IP3 signaling0.43
    4G-Beta Gamma Signaling
    G-Beta Gamma Signaling0.46
    Relaxin Pathway0.37
    GHRH Signaling0.46
    Hedgehog Signaling in Mammals0.32
    CRHR Pathway0.44
    5ADP signalling through P2Y purinoceptor 12
    Signal amplification0.79
    Thromboxane signalling through TP receptor0.79
    ADP signalling through P2Y purinoceptor 10.79
    Thrombin signalling through proteinase activated receptors (PARs)0.69


    Find genes that share SuperPaths with GNA11           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNA11 (see all 63)
        RhoA Pathway
    Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CDK5 Pathway

    2 Cell Signaling Technology (CST) Pathways for GNA11
        Ca, cAMP and Lipid Signaling
    Neuroscience

    Selected GeneGo (Thomson Reuters) Pathways for GNA11 (see all 21)
        Development Endothelin-1/EDNRA transactivation of EGFR
    Development Endothelin-1/EDNRA signaling
    G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    Development Angiotensin signaling via PYK2
    Signal transduction Activation of PKC via G-Protein coupled receptor

    Selected BioSystems Pathways for GNA11 (see all 8)
        G Protein Signaling Pathways
    Calcium Regulation in the Cardiac Cell
    Corticotropin-releasing hormone
    LPA receptor mediated events
    Sphingosine 1-phosphate (S1P) pathway


    Selected Reactome Pathways for GNA11 (see all 6)
        Acetylcholine regulates insulin secretion
    Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
    ADP signalling through P2Y purinoceptor 1
    G alpha (q) signalling events
    Thromboxane signalling through TP receptor

    1 PharmGKB Pathway for GNA11
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for GNA11) (see all 9):
        Calcium signaling pathway
    Vascular smooth muscle contraction
    Gap junction
    Cholinergic synapse
    Long-term depression

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GNA11
    Interactions:

        Search GeneGlobe Interaction Network for GNA11

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

    Selected Interacting proteins for GNA11 (P299923 ENSP000000784294) via UniProtKB, MINT, STRING, and/or I2D (see all 144)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RGS3P497963, ENSP000002594064I2D: score=4 STRING: ENSP00000259406
    ADRB2P075503, ENSP000003053724I2D: score=2 STRING: ENSP00000305372
    EDNRBP245303, ENSP000003353114I2D: score=2 STRING: ENSP00000335311
    CFTRP135693, ENSP000000030844I2D: score=1 STRING: ENSP00000003084
    CHRM2P081723, ENSP000003199844I2D: score=1 STRING: ENSP00000319984
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    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0001508action potential IBA--
    GO:0007165signal transduction TAS8530500
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA--

    Find genes that share ontologies with GNA11           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GNA11
      Browse compounds at ApexBio 

    Compounds for GNA11 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 GNA11    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--



    Find genes that share compounds with GNA11           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GNA11 gene: 
    NM_002067.4  

    Unigene Clusters for GNA11:

    Guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
    Hs.650575  [show with all ESTs], Hs.654784  [show with all ESTs]
    Unigene Representative Sequences: NM_002067, AL110227
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000078429(uc002lxd.3) ENST00000586763 ENST00000587636 ENST00000588401
    ENST00000590534 ENST00000586180 ENST00000591301
    miRNA
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    Additional mRNA sequence: 

    AL110227.1 BC001528.2 BC051315.1 BC063426.1 BC111027.1 

    11 DOTS entries:

    DT.95121107  DT.95121117  DT.95154856  DT.121464340  DT.453055  DT.70101545  DT.87014967  DT.99953757 
    DT.92340108  DT.95097490  DT.97781328 

    Selected AceView cDNA sequences (see all 340):

    BU149324 BQ638343 AA463758 CA443547 CF272489 BU615875 BM471025 BM560891 
    AA722486 AW068937 AW001941 BF111816 BQ882612 BM721678 BQ687684 BU157701 
    AI494591 AA378440 AI339830 AI139611 BI917403 BM794330 BU624739 CN484454 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GNA11    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b
    SP1:                          -     -                                 
    SP2:                                                                  
    SP3:                                                                  


    ECgene alternative splicing isoforms for GNA11

    (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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    GNA11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTGTGCGC
    GNA11 Expression
    About this image

    GNA11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNA11 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.650575 Hs.654784
        Custom PCR Arrays for GNA11
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNA11

    (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 and fungi.

    Orthologs for GNA11 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gna111 , 5 guanine nucleotide binding protein, alpha 111, 5 89.6(n)1
    98.05(a)1
      10 (39.72 cM)5
    146721  NM_010301.31  NP_034431.11 
     815287245 
    chicken
    (Gallus gallus)
    Aves GNA111 guanine nucleotide binding protein (G protein), alpha more 82.64(n)
    97.21(a)
      374077  NM_204234.1  NP_989565.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNA116
    guanine nucleotide binding protein (G protein), al...
    99(a)
    1 ↔ 1
    GL343717.1(288913-300418)
    African clawed frog
    (Xenopus laevis)
    Amphibia gna11-prov2 guanine nucleotide binding protein, alpha 11 78.43(n)    U10494.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD599793.12   -- 84.03(n)    CD599793.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Galpha49B3 phospholipase C activation
    heterotrimeric G-protein more
    76(a)
    (best of 3)
      49B8   --
    worm
    (Caenorhabditis elegans)
    Secernentea odr-33
    egl-301
    guanine nucleotide-binding protein3
    egl-301
    45(a)
    (best of 6)3
    70.82(n)1
    83.29(a)1
      V(13249483-13252134)3
    1717511  NM_170806.41  NP_740789.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPA26
    Nucleotide binding alpha subunit of the heterotrim...
    32(a)
    1 → many
    V(195168-196517) YER020W


    ENSEMBL Gene Tree for GNA11 (if available)
    TreeFam Gene Tree for GNA11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GNA11 gene
    GNAQ2  GNA142  GNAI32  GNAT22  GNA132  GNAT32  GNAT12  GNA122  
    GNAI22  GNA152  GNAZ2  GNAO12  GNAI12  
    18 SIMAP similar genes for GNA11 using alignment to 2 protein entries:     GNA11_HUMAN (see all proteins):
    GNAQ    GNA14    GNAI2    GNAI1    GNA15    GNAT1
    GNAT3    GNAI3    GNAT2    GNA13    GNAO1    GNA12
    DKFZp686O0962    GNAZ    GNAL    GSA    GNAS    WUGSC

    Find genes that share paralogs with GNA11           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GNA11
    PGOHUM00000232848


    (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 GNA11 (see all 794)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701694
    Hypocalcemia, autosomal dominant 2 (HYPOC2)4--see VAR_0701692 S W mis40--------
    VAR_0701664
    Hypocalciuric hypercalcemia, familial 2 (HHC2)4--see VAR_0701662 L Q mis40--------
    VAR_0701704
    Hypocalcemia, autosomal dominant 2 (HYPOC2)4--see VAR_0701702 F L mis40--------
    VAR_0701654
    Hypocalcemia, autosomal dominant 2 (HYPOC2)4--see VAR_0701652 R C mis40--------
    VAR_0701674
    Hypocalcemia, autosomal dominant 2 (HYPOC2)4--see VAR_0701672 R Q mis40--------
    rs1142734521,2
    F--3092468(+) GGTCTC/TGAACT 1 -- us2k11Minor allele frequency- T:0.06WA 118
    rs1435810481,2
    --3092499(+) CTGCCA/TTGGCC 1 -- us2k10--------
    rs286850981,2
    C--3092534(+) GGAGCC/TGCCGC 1 -- us2k19Minor allele frequency- T:0.37NA WA CSA EA 367
    rs1472056191,2
    C--3092693(+) AAAAGC/GGTTTT 1 -- us2k10--------
    rs1926855281,2
    --3092700(+) TTTTCA/TGTAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GNA11 (3094408 - 3124002 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GNA11 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669769CNV Deletion23128226
    esv2717922CNV Deletion23290073
    nsv509716CNV Insertion20534489
    nsv470113CNV Loss18288195
    nsv910714CNV Loss21882294
    nsv910694CNV Loss21882294
    dgv3644n71CNV Loss21882294
    dgv3646n71CNV Loss21882294
    nsv910697CNV Loss21882294
    dgv3647n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): GNA11
    3 Site Specific Mutation Identification with PCR Assays for GNA11:
    Cosmic IdAA Change
    52974p.R183C
    21651p.R183C
    52969p.Q209L
    SeqTarget long-range PCR primers for resequencing GNA11
    DNA2.0 Custom Variant and Variant Library Synthesis for GNA11

    (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: 139313   
    OMIM disorders: 145981  615361  
    UniProtKB/Swiss-Prot: GNA11_HUMAN, P29992
  • Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]: A form of hypocalciuric hypercalcemia, a
    disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of
    penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is
    associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating
    parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic
    and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]: A form of hypocalcemia, a disorder of mineral
    homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone
    concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures,
    hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for GNA11:    
    About MalaCards
    hypocalciuric hypercalcemia, type ii    foramen magnum meningioma    hypocalcemia, autosomal dominant 2    hypocalcemia, autosomal dominant
    hypercalcemia    trismus-pseudocamptodactyly syndrome

    6 diseases from the University of Copenhagen DISEASES database for GNA11:
    Cholera     Pseudohypoparathyroidism     Pertussis     Foramen magnum meningioma
    Neuroblastoma     Fibrous dysplasia

    Find genes that share disorders with GNA11           About GenesLikeMe

    Genetic Association Database (GAD): GNA11
    Human Genome Epidemiology (HuGE) Navigator: GNA11 (1 document)

    Export disorders for GNA11 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 GNA11 gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with GNA11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations affecting G-protein subunit I+11 in hypercalcemia and hypocalcemia. (PubMed id 23802516)1, 2, 3 Nesbit M.A....Thakker R.V. (N. Engl. J. Med. 2013)
    2. Mutations in GNA11 in uveal melanoma. (PubMed id 21083380)1, 4 Van Raamsdonk C.D....Bastian B.C. (N. Engl. J. Med. 2010)
    3. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    4. 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)
    5. Ca2+ signalling in K562 human erythroleukaemia cells: effect of dimethyl sulphoxide and role of G-proteins in thrombin- and thromboxane A2-activated pathways. (PubMed id 7492305)1, 2 Thomas C.P.... Mattera R. (Biochem. J. 1995)
    6. Evolution of the mammalian G protein alpha subunit multigene family. (PubMed id 1302014)1, 3 Wilkie T.M....Simon M.I. (Nat. Genet. 1992)
    7. Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells. (PubMed id 1902575)1, 2 Jiang M.... Fong H.K.W. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    8. Reduced expression of GNA11 and silencing of MCT1 in human breast cancers. (PubMed id 12759536)1, 9 Asada K....Ushijima T. (Oncology 2003)
    9. Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. (PubMed id 23778528)1 Koopmans A.E....de Klein A. (Br. J. Cancer 2013)
    10. Mutational analysis of GNAQ and GNA11 to aid therapy management of a choroidal melanoma metastatic to the contralateral orbit. (PubMed id 23572068)1 BAPhm M.R....Grenzebach U.H. (JAMA Ophthalmol 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: 2767 HGNC: 4379 AceView: GNA11 Ensembl:ENSG00000088256 euGenes: HUgn2767
    ECgene: GNA11 Kegg: 2767 H-InvDB: GNA11

    (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 GNA11 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GNA11 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 GNA11 gene:
    Search GeneIP for patents involving GNA11

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



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