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GNAZ Gene

protein-coding   GIFtS: 65
GCID: GC22P023413

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

  See GNAZ-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 Z Polypeptide1 2
G(X) Alpha Chain2 3
Guanine Nucleotide-Binding Protein G(Z) Subunit Alpha2
gz-alpha2
Transducin Alpha2
Gz-alpha3

External Ids:    HGNC: 43951   Entrez Gene: 27812   Ensembl: ENSG000001282667   OMIM: 1391605   UniProtKB: P190863   

Export aliases for GNAZ gene to outside databases

Previous GC identifers: GC22P020136 GC22P021737 GC22P021728 GC22P006380


(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 GNAZ Gene:
The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in
pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of
perilymphatic and endolymphatic cochlear fluids. (provided by RefSeq, Jul 2008)

GeneCards Summary for GNAZ Gene:
GNAZ (guanine nucleotide binding protein (G protein), alpha z polypeptide) is a protein-coding gene. Diseases associated with GNAZ include autosomal dominant congenital stationary night blindness, and pertussis. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNAQ.

UniProtKB/Swiss-Prot: GNAZ_HUMAN, P19086
Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various
transmembrane signaling systems

summary for GNAZ Gene:
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein
contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand-receptor binding
results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of
second messenger signalling cascades. There are several types of Galpha proteins; Galphas and Galphai bind
directly to adenylyl cyclase and stimulate or inhibit its activity, leading to an increase or decrease in
cAMP levels respectively.

Gene Wiki entry for GNAZ 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_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNAZ gene promoter:
         TBP   AP-4   Cdc5   C/EBPalpha   CHOP-10   HEN1   POU2F1   POU2F1a   POU2F1b   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNAZ promoter sequence
   Search Chromatin IP Primers for GNAZ

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


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

Entrez Gene cytogenetic band: 22q11.22   Ensembl cytogenetic band:  22q11.22   HGNC cytogenetic band: 22q11.1-q11.2

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P023413:  view genomic region     (about GC identifiers)

Start:
23,412,540 bp from pter      End:
23,467,224 bp from pter
Size:
54,685 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: GNAZ_HUMAN, P19086 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein G(z) subunit alpha  
Size: 355 amino acids; 40924 Da
Subunit: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine
nucleotide binding site
Secondary accessions: B2R6C1 Q4QRJ6

Explore the universe of human proteins at neXtProt for GNAZ: NX_P19086

Explore proteomics data for GNAZ at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys189
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_002064.1  
    ENSEMBL proteins: 
     ENSP00000248996  
    Reactome Protein details: P19086

    GNAZ Human Recombinant Protein Products:

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    Novus Biologicals GNAZ Proteins
    Novus Biologicals GNAZ Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for GNAZ
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GNAZ 

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    Search eBioscience for ELISAs for GNAZ 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001019 Gprotein_alpha_su
     IPR011025 GproteinA_insert
     IPR001408 Gprotein_alpha_I
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P19086

    ProtoNet protein and cluster: P19086

    2 Blocks protein domains:
    IPB001019 Alpha G-protein (transducin) signature
    IPB001408 G-protein alpha subunit group I signature


    UniProtKB/Swiss-Prot: GNAZ_HUMAN, P19086
    Similarity: Belongs to the G-alpha family. G(i/o/t/z) subfamily


    Find genes that share domains with GNAZ           About GenesLikeMe


    (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, 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: GNAZ_HUMAN, P19086
    Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various
    transmembrane signaling systems

         Genatlas biochemistry entry for GNAZ:
    guanine nucleotide binding protein (G protein),alpha,z polypeptide

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IBA--
    GO:0004871signal transducer activity IBA--
    GO:0005057receptor signaling protein activity TAS2456569
    GO:0005525GTP binding IEA--
    GO:0019001guanyl nucleotide binding ----
         
    Find genes that share ontologies with GNAZ           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gnaz):
     behavior/neurological  embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism 
     integument  mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with GNAZ           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gnaztm1Iah for GNAZ

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNAZ
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GNAZ

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNAZ
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNAZ

    miRNA
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    miRTarBase miRNAs that target GNAZ:
    hsa-mir-30b-5p (MIRT046159)

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    Selected qRT-PCR Assays for microRNAs that regulate GNAZ (see all 35):
    hsa-miR-21* hsa-miR-3678-3p hsa-miR-2052 hsa-miR-4307 hsa-miR-411 hsa-miR-513a-5p hsa-miR-1276 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidGNAZ 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GNAZ

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GNAZ (NM_002073)
    Sino Biological Human cDNA Clone for GNAZ
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAZ

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAZ


    (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
    GNAZ_HUMAN, P19086: Membrane; Lipid-anchor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    nucleus4
    cytosol3
    plasma membrane3
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope TAS2117645
    GO:0005783endoplasmic reticulum TAS2117645
    GO:0005829cytosol IEA--
    GO:0005834heterotrimeric G-protein complex IBA--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with GNAZ           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 GNAZ About   (see all 48)  
    See pathways by source

    SuperPathContained pathways About
    1Ca-dependent events
    PLC beta mediated events0.67
    Opioid Signalling0.54
    G-protein mediated events0.65
    Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling0.33
    2EphB-EphrinB Signaling
    EphB-EphrinB Signaling0.58
    Cytoskeleton remodeling Reverse signaling by ephrin B0.34
    3Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    4G Protein Signaling Pathways
    G Protein Signaling Pathways0.44
    Signal transduction cAMP signaling0.44
    5S1P3 pathway
    S1P3 pathway0.44
    Sphingosine 1-phosphate (S1P) pathway0.40
    S1P2 pathway0.44
    S1P4 pathway0.36
    S1P1 pathway0.41
    S1P5 pathway0.00


    Find genes that share SuperPaths with GNAZ           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNAZ (see all 38)
        Molecular Mechanisms of Cancer
    Visual Cycle in Retinal Rods
    CDK5 Pathway
    ERK5 Signaling
    Rho Family GTPases

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

    Selected GeneGo (Thomson Reuters) Pathways for GNAZ (see all 25)
        Signal transduction cAMP signaling
    Development Endothelin-1/EDNRA signaling
    G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    G-protein signaling G-Protein alpha-i signaling cascades
    Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions

    Selected BioSystems Pathways for GNAZ (see all 10)
        G Protein Signaling Pathways
    Calcium Regulation in the Cardiac Cell
    Corticotropin-releasing hormone
    S1P1 pathway
    LPA receptor mediated events


    5 Reactome Pathways for GNAZ
        G-protein activation
    PLC beta mediated events
    G alpha (i) signalling events
    G alpha (s) signalling events
    G alpha (z) signalling events


    1 Kegg Pathway  (Kegg details for GNAZ):
        Long-term depression

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

    Interactions:

        Search GeneGlobe Interaction Network for GNAZ

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

    Selected Interacting proteins for GNAZ (P190863 ENSP000002489964) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RGS10O436653, ENSP000003580994I2D: score=3 STRING: ENSP00000358099
    NMT1P304193, ENSP000002589604I2D: score=2 STRING: ENSP00000258960
    OPRD1P411433, ENSP000002349614I2D: score=2 STRING: ENSP00000234961
    PRKCDQ056553, ENSP000003316024I2D: score=2 STRING: ENSP00000331602
    RGS20O760813, ENSP000002973134I2D: score=2 STRING: ENSP00000297313
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007186G-protein coupled receptor signaling pathway TAS3129724
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA--
    GO:0007193adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA--
    GO:0035556intracellular signal transduction TAS2456569

    Find genes that share ontologies with GNAZ           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GNAZ 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 GNAZ    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--

    7 Novoseek inferred chemical compound relationships for GNAZ gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metarhodopsin ii 78.2 1 8052635 (1)
    gtp 71.7 6 8395213 (1), 8185603 (1), 8900174 (1), 9083000 (1) (see all 5)
    gdp 59 2 16815918 (1), 8774882 (1)
    cgmp 57.2 2 9852093 (1), 7768919 (1)
    1,1,1 trichloroethane 55.8 1 16103122 (1)
    arachidonic acid 0 2 9359846 (1), 1606965 (1)
    calcium 0 1 12975484 (1)



    Find genes that share compounds with GNAZ           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 GNAZ gene: 
    NM_002073.2  

    Unigene Cluster for GNAZ:

    Guanine nucleotide binding protein (G protein), alpha z polypeptide
    Hs.584760  [show with all ESTs]
    Unigene Representative Sequence: BC037333
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000248996(uc002zwu.1) ENST00000492538 ENST00000479571
    miRNA
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    hsa-miR-21* hsa-miR-3678-3p hsa-miR-2052 hsa-miR-4307 hsa-miR-411 hsa-miR-513a-5p hsa-miR-1276 hsa-miR-186
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GNAZ
      QuantiTect SYBR Green Assays in human, mouse, rat GNAZ
      QuantiFast Probe-based Assays in human, mouse, rat GNAZ

    Additional mRNA sequence: 

    AF493899.1 AK293653.1 AK309397.1 AK312519.1 BC026342.1 BC037333.1 BC078163.1 BC096828.1 
    CR456495.1 J03260.1 

    11 DOTS entries:

    DT.100728447  DT.114734  DT.100680712  DT.100773110  DT.120677021  DT.100753158  DT.120677198  DT.87015846 
    DT.100756359  DT.91651812  DT.100691246 

    1 AceView cDNA sequence:

    AK126747 

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


    GNAZ 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
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    GNAZ Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNAZ Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.584760
        Pathway & Disease-focused RT2 Profiler PCR Array including GNAZ: 
              Alzheimer's Disease in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAZ

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for GNAZ gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnaz1 , 5 guanine nucleotide binding protein, alpha z subunit1, 5 92.21(n)1
    98.31(a)1
      10 (38.48 cM)5
    146871  NM_010311.31  NP_034441.11 
     749671775 
    chicken
    (Gallus gallus)
    Aves GNAZ1 guanine nucleotide binding protein (G protein), alpha more 82.25(n)
    97.18(a)
      770226  XM_004934353.1  XP_004934410.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNAZ6
    guanine nucleotide binding protein (G protein), al...
    95(a)
    1 ↔ 1
    AAWZ02037698(642-1379)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gnaz1 guanine nucleotide binding protein (G protein), alpha more 81.69(n)
    96.34(a)
      780044  NM_001079121.1  NP_001072589.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gnaz1 guanine nucleotide binding protein (G protein), alpha more 80.25(n)
    93.83(a)
      564915  XM_005155634.1  XP_005155691.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta G-ialpha65A6
    G protein alphai subunit 65A
    62(a)
    1 → many
    3L(6965850-6973153)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GNAZ gene
    GNAQ2  GNA112  GNA142  GNAI32  GNAT22  GNA132  GNAT32  GNAT12  
    GNA122  GNAI22  GNA152  GNAO12  GNAI12  
    18 SIMAP similar genes for GNAZ using alignment to 3 protein entries:     GNAZ_HUMAN (see all proteins):
    DKFZp686O0962    GNAI3    GNAI2    GNAT3    GNAT2    GNAI1
    GNAO1    GNAT1    GNA14    GNA11    GNAQ    GNA12
    GNA13    GNA15    GNAL    GNAS    GSA    WUGSC

    Find genes that share paralogs with GNAZ           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    2 SNPs for GNAZ    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs568337761,2
    C,F--6378530(+) GATAGC/TCTCAC 1 -- int12Minor allele frequency- T:0.17WA 120
    rs3704354091,2
    ----6378612(+) CCGGTC/GTGAAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for GNAZ (23412540 - 23467224 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GNAZ (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521695CNV Loss19592680
    nsv525485CNV Loss19592680
    esv24055CNV Loss19812545
    dgv4902n71CNV Loss21882294
    nsv3573CNV Loss18451855
    dgv19e24CNV Loss17666407
    nsv914577CNV Loss21882294
    esv34158CNV Loss18971310
    dgv4900n71CNV Gain21882294
    esv33363CNV Gain+Loss17666407

    1 Site Specific Mutation Identification with PCR Assay for GNAZ:
    Cosmic IdAA Change
    107624p.D151N
    SeqTarget long-range PCR primers for resequencing GNAZ
    DNA2.0 Custom Variant and Variant Library Synthesis for GNAZ

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 139160    OMIM disorders: --

    3 diseases for GNAZ:    
    About MalaCards
    autosomal dominant congenital stationary night blindness    pertussis    achromatopsia


    Find genes that share disorders with GNAZ           About GenesLikeMe

    1 Novoseek inferred disease relationship for GNAZ gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    night blindness 61.8 3 10702259 (2), 16793893 (1)

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

    Export disorders for GNAZ 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 GNAZ gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with GNAZ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human gene for Gx alpha, a pertussis toxin- insensitive regulatory GTP-binding protein. (PubMed id 2115889)1, 2, 3 Matsuoka M.... Kaziro Y. (J. Biol. Chem. 1990)
    2. Identification of Gz alpha as a pertussis toxin-insensitive G protein in human platelets and megakaryocytes. (PubMed id 1908722)1, 2, 9 Gagnon A.W....Brass L.F. (Blood 1991)
    3. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Identification of a GTP-binding protein alpha subunit that lacks an apparent ADP-ribosylation site for pertussis toxin. (PubMed id 3129724)1, 2 Fong H.K.W.... Simon M.I. (Proc. Natl. Acad. Sci. U.S.A. 1988)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (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: 2781 HGNC: 4395 AceView: GNAZ.1 Ensembl:ENSG00000128266 euGenes: HUgn2781
    ECgene: GNAZ Kegg: 2781 H-InvDB: GNAZ

    (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 GNAZ 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 GNAZ gene:
    Search GeneIP for patents involving GNAZ

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