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Aliases for GNAZ Gene

Aliases for GNAZ Gene

  • G Protein Subunit Alpha Z 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Z Polypeptide 2 3
  • G(X) Alpha Chain 3 4
  • Gz-Alpha 3 4
  • Guanine Nucleotide-Binding Protein G(Z) Subunit Alpha 3
  • Transducin Alpha 3

External Ids for GNAZ Gene

Previous GeneCards Identifiers for GNAZ Gene

  • GC22P020136
  • GC22P021737
  • GC22P021728
  • GC22P023413
  • GC22P006380

Summaries for GNAZ Gene

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 (G Protein Subunit Alpha Z) is a Protein Coding gene. Diseases associated with GNAZ include Pertussis and Autosomal Dominant Congenital Stationary Night Blindness. Among its related pathways are DAG and IP3 signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAI1.

UniProtKB/Swiss-Prot for GNAZ Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.

Tocris 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 binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNAZ Gene

Additional gene information for GNAZ Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAZ Gene

Genomics for GNAZ Gene

GeneHancer (GH) Regulatory Elements for GNAZ Gene

Promoters and enhancers for GNAZ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I023069 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.9 905 3.3 PKNOX1 CLOCK ATF1 ARID4B SIN3A ZNF2 GLIS2 CBX5 FOS ATF7 GNAZ MIF-AS1 DRICH1 MMP11 ZNF70 PIR59232 RSPH14
GH22I024010 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.8 +941.3 941324 2.6 PKNOX1 CLOCK FOXA2 ARID4B SIN3A ZNF2 YY1 ZNF766 E2F8 ZNF207 CABIN1 ENSG00000272973 ZDHHC8P1 MIF-AS1 SNRPD3 SUSD2 RN7SL268P GNAZ ZNF70 ENSG00000272578
GH22I023098 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.5 +28.8 28759 2.7 HDAC1 ATF1 MCM2 ZIC2 CTBP1 CBFA2T2 MCM3 BHLHE40 CBFA2T3 MCM5 GC22P023386 PIR32987 PIR59232 MIF-AS1 GNAZ MMP11 RAB36 RSPH14 SMARCB1 ZNF70
GH22I023144 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 6.5 +76.1 76053 3.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 YY1 ZNF121 GLIS2 FOS RSPH14 RAB36 BCR GNAZ LOC100420267
GH22I023106 Enhancer 1 ENCODE dbSUPER 12.3 +36.8 36798 1.3 FOXA2 ZNF792 RB1 ARNT TEAD4 TSC22D4 MCM2 ZKSCAN1 ZNF280A TCF12 MIF-AS1 MMP11 GNAZ SMARCB1 ZNF70 BCR GC22P023386 PIR32987 PIR59194 RSPH14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GNAZ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNAZ gene promoter:

Genomic Locations for GNAZ Gene

Genomic Locations for GNAZ Gene
chr22:23,070,361-23,125,037
(GRCh38/hg38)
Size:
54,677 bases
Orientation:
Plus strand
chr22:23,412,540-23,467,224
(GRCh37/hg19)

Genomic View for GNAZ Gene

Genes around GNAZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAZ Gene

Proteins for GNAZ Gene

  • Protein details for GNAZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19086-GNAZ_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(z) subunit alpha
    Protein Accession:
    P19086
    Secondary Accessions:
    • B2R6C1
    • Q4QRJ6

    Protein attributes for GNAZ Gene

    Size:
    355 amino acids
    Molecular mass:
    40924 Da
    Quaternary structure:
    • G-proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with ADGRB2 (PubMed:28891236).

neXtProt entry for GNAZ Gene

Post-translational modifications for GNAZ Gene

Other Protein References for GNAZ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GNAZ Gene

Domains & Families for GNAZ Gene

Gene Families for GNAZ Gene

Graphical View of Domain Structure for InterPro Entry

P19086

UniProtKB/Swiss-Prot:

GNAZ_HUMAN :
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Family:
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
genes like me logo Genes that share domains with GNAZ: view

Function for GNAZ Gene

Molecular function for GNAZ Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha,z polypeptide
UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.

Phenotypes From GWAS Catalog for GNAZ Gene

Gene Ontology (GO) - Molecular Function for GNAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IBA --
GO:0003924 GTPase activity TAS --
GO:0004871 signal transducer activity IEA --
GO:0005057 signal transducer activity, downstream of receptor TAS 2456569
GO:0005515 protein binding IPI 28891236
genes like me logo Genes that share ontologies with GNAZ: view
genes like me logo Genes that share phenotypes with GNAZ: view

Animal Models for GNAZ Gene

MGI Knock Outs for GNAZ:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GNAZ Gene

Localization for GNAZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNAZ Gene

Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNAZ gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 4
cytosol 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GNAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope TAS 2117645
GO:0005783 endoplasmic reticulum TAS 2117645
GO:0005829 cytosol IEA --
GO:0005834 heterotrimeric G-protein complex IBA --
GO:0005886 plasma membrane IEA,TAS --
genes like me logo Genes that share ontologies with GNAZ: view

Pathways & Interactions for GNAZ Gene

genes like me logo Genes that share pathways with GNAZ: view

Interacting Proteins for GNAZ Gene

SIGNOR curated interactions for GNAZ Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GNAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with GNAZ: view

Drugs & Compounds for GNAZ Gene

(6) Drugs for GNAZ Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(9) Additional Compounds for GNAZ Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
G-Protein antagonist peptide
143675-79-0

(5) Tocris Compounds for GNAZ Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNAZ: view

Transcripts for GNAZ Gene

mRNA/cDNA for GNAZ Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GNAZ Gene

Guanine nucleotide binding protein (G protein), alpha z polypeptide:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNAZ Gene

No ASD Table

Relevant External Links for GNAZ Gene

GeneLoc Exon Structure for
GNAZ
ECgene alternative splicing isoforms for
GNAZ

Expression for GNAZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNAZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GNAZ Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.5), Frontal cortex (13.1), Brain (9.6), Platelet (8.8), and Retina (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNAZ Gene



Protein tissue co-expression partners for GNAZ Gene

NURSA nuclear receptor signaling pathways regulating expression of GNAZ Gene:

GNAZ

SOURCE GeneReport for Unigene cluster for GNAZ Gene:

Hs.584760

Evidence on tissue expression from TISSUES for GNAZ Gene

  • Nervous system(4.9)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with GNAZ: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNAZ Gene

Orthologs for GNAZ Gene

This gene was present in the common ancestor of animals.

Orthologs for GNAZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNAZ 33 34
  • 99.62 (n)
oppossum
(Monodelphis domestica)
Mammalia GNAZ 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNAZ 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNAZ 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAZ 33 34
  • 93.33 (n)
mouse
(Mus musculus)
Mammalia Gnaz 33 16 34
  • 92.21 (n)
rat
(Rattus norvegicus)
Mammalia Gnaz 33
  • 91.64 (n)
chicken
(Gallus gallus)
Aves GNAZ 33 34
  • 82.25 (n)
lizard
(Anolis carolinensis)
Reptilia GNAZ 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnaz 33
  • 81.69 (n)
zebrafish
(Danio rerio)
Actinopterygii gnaz 33
  • 80.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta G-ialpha65A 34
  • 62 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gpa-7 35
  • 52 (a)
gpa-4 35
  • 50 (a)
gpa-3 35
  • 47 (a)
odr-3 35
  • 44 (a)
gpa-2 35
  • 42 (a)
gpa-15 35
  • 41 (a)
gpa-11 35
  • 38 (a)
gpa-6 35
  • 37 (a)
gpa-9 35
  • 34 (a)
gpa-14 35
  • 32 (a)
gpa-5 35
  • 32 (a)
Species where no ortholog for GNAZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNAZ Gene

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

Paralogs for GNAZ Gene

(19) SIMAP similar genes for GNAZ Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GNAZ: view

Variants for GNAZ Gene

Sequence variations from dbSNP and Humsavar for GNAZ Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000029772 -- 23,101,005(+) G/A 3_prime_UTR_variant, intron_variant
rs1000101083 -- 23,114,480(+) C/G 3_prime_UTR_variant, intron_variant
rs1000271390 -- 23,071,717(+) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000344093 -- 23,086,903(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000369440 -- 23,070,719(+) AG/ genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GNAZ Gene

Variant ID Type Subtype PubMed ID
nsv953050 CNV deletion 24416366
nsv7350 OTHER inversion 18451855
nsv588593 CNV gain 21841781
nsv588589 CNV gain 21841781
nsv588512 CNV loss 21841781
nsv525485 CNV loss 19592680
nsv521695 CNV loss 19592680
nsv3573 CNV deletion 18451855
nsv1124862 CNV duplication 24896259
nsv1071782 CNV deletion 25765185
nsv1066891 CNV gain 25217958
nsv1061433 CNV gain+loss 25217958
esv3893457 CNV gain 25118596
esv3647392 CNV gain 21293372
esv3647390 CNV gain 21293372
esv34158 CNV loss 18971310
esv33363 CNV gain+loss 17666407
esv24055 CNV loss 19812545
dgv8037n54 CNV gain 21841781
dgv19e24 CNV loss 17666407

Variation tolerance for GNAZ Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNAZ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNAZ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAZ Gene

Disorders for GNAZ Gene

MalaCards: The human disease database

(5) MalaCards diseases for GNAZ Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pertussis
  • bordetella infection
autosomal dominant congenital stationary night blindness
  • adcsnb
congenital stationary night blindness
  • congenital essential nyctalopia
achromatopsia
  • achm
deafness, autosomal recessive 12
  • dfnb12
- elite association - COSMIC cancer census association via MalaCards
Search GNAZ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GNAZ

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GNAZ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNAZ Gene

Publications for GNAZ Gene

  1. Identification of Gz alpha as a pertussis toxin-insensitive G protein in human platelets and megakaryocytes. (PMID: 1908722) Gagnon AW … Brass LF (Blood 1991) 3 4 22 58
  2. Characterization of the human gene for Gx alpha, a pertussis toxin-insensitive regulatory GTP-binding protein. (PMID: 2115889) Matsuoka M … Kaziro Y (The Journal of biological chemistry 1990) 2 3 4 58
  3. A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. (PMID: 28891236) Purcell RH … Hall RA (Human mutation 2017) 3 4 58
  4. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 44 58
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58

Products for GNAZ Gene

Sources for GNAZ Gene

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