Human Gene GNAZ (ENST00000615612.2) from GENCODE V44
  Description: Homo sapiens G protein subunit alpha z (GNAZ), mRNA. (from RefSeq NM_002073)
RefSeq Summary (NM_002073): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000615612.2
Gencode Gene: ENSG00000128266.9
Transcript (Including UTRs)
   Position: hg38 chr22:23,070,519-23,125,032 Size: 54,514 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr22:23,095,696-23,123,431 Size: 27,736 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:23,070,519-23,125,032)mRNA (may differ from genome)Protein (355 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GNAZ_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein G(z) subunit alpha; AltName: Full=G(x) alpha chain; AltName: Full=Gz-alpha;
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.
SUBUNIT: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.
SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
SIMILARITY: Belongs to the G-alpha family. G(i/o/t/z) subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GNAZ
Diseases sorted by gene-association score: pertussis (9), autosomal dominant congenital stationary night blindness (4), congenital stationary night blindness (2), achromatopsia (2), deafness, autosomal recessive 12 (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.94 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 174.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -234.60501-0.468 Picture PostScript Text
3' UTR -548.101601-0.342 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001408 - Gprotein_alpha_I
IPR001019 - Gprotein_alpha_su
IPR011025 - GproteinA_insert

Pfam Domains:
PF00503 - G-protein alpha subunit

ModBase Predicted Comparative 3D Structure on P19086
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005057 signal transducer activity, downstream of receptor
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0031821 G-protein coupled serotonin receptor binding
GO:0046872 metal ion binding

Biological Process:
GO:0006457 protein folding
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway

Cellular Component:
GO:0005635 nuclear envelope
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030425 dendrite
GO:0044297 cell body


-  Descriptions from all associated GenBank mRNAs
  BC037333 - Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide, mRNA (cDNA clone MGC:43258 IMAGE:5264642), complete cds.
BC026342 - Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide, mRNA (cDNA clone MGC:26547 IMAGE:4814858), complete cds.
AK312519 - Homo sapiens cDNA, FLJ92884, Homo sapiens guanine nucleotide binding protein (G protein), alphaz polypeptide (GNAZ), mRNA.
AK293653 - Homo sapiens cDNA FLJ51798 complete cds, highly similar to Guanine nucleotide-binding protein G(z) subunit alpha.
BC078163 - Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide, mRNA (cDNA clone MGC:88028 IMAGE:6180193), complete cds.
CR456495 - Homo sapiens GNAZ full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.GNAZ.V4).
J03260 - Human transducin alpha-subunit (GNAZ) mRNA, complete cds.
CU013380 - Homo sapiens GNAZ, mRNA (cDNA clone IMAGE:100000255), complete cds, without stop codon, in Gateway system.
DQ892386 - Synthetic construct clone IMAGE:100005016; FLH185839.01X; RZPDo839F08148D guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ) gene, encodes complete protein.
EU176512 - Synthetic construct Homo sapiens clone IMAGE:100011490; FLH185838.01L; RZPDo839F05253D guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ) gene, encodes complete protein.
BC096828 - Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide, mRNA (cDNA clone MGC:111695 IMAGE:6519151), complete cds.
CU013092 - Homo sapiens GNAZ, mRNA (cDNA clone IMAGE:100000351), complete cds, with stop codon, in Gateway system.
AB463061 - Synthetic construct DNA, clone: pF1KB4667, Homo sapiens GNAZ gene for guanine nucleotide binding protein (G protein), alpha z polypeptide, without stop codon, in Flexi system.
CU687322 - Synthetic construct Homo sapiens gateway clone IMAGE:100022954 5' read GNAZ mRNA.
KJ896900 - Synthetic construct Homo sapiens clone ccsbBroadEn_06294 GNAZ gene, encodes complete protein.
KJ896901 - Synthetic construct Homo sapiens clone ccsbBroadEn_06295 GNAZ gene, encodes complete protein.
KJ896902 - Synthetic construct Homo sapiens clone ccsbBroadEn_06296 GNAZ gene, encodes complete protein.
AF493899 - Homo sapiens guanine nucleotide binding protein alpha z (GNAZ) mRNA, complete cds.
AK309397 - Homo sapiens cDNA, FLJ99438.
JD541578 - Sequence 522602 from Patent EP1572962.
JD419463 - Sequence 400487 from Patent EP1572962.
JD261036 - Sequence 242060 from Patent EP1572962.
JD432307 - Sequence 413331 from Patent EP1572962.
JD151992 - Sequence 133016 from Patent EP1572962.
JD323464 - Sequence 304488 from Patent EP1572962.
JD477294 - Sequence 458318 from Patent EP1572962.
JD193746 - Sequence 174770 from Patent EP1572962.
JD450788 - Sequence 431812 from Patent EP1572962.
JD097278 - Sequence 78302 from Patent EP1572962.
JD423512 - Sequence 404536 from Patent EP1572962.
JD069415 - Sequence 50439 from Patent EP1572962.
JD409181 - Sequence 390205 from Patent EP1572962.
JD503569 - Sequence 484593 from Patent EP1572962.
JD357851 - Sequence 338875 from Patent EP1572962.
JD494070 - Sequence 475094 from Patent EP1572962.
JD353619 - Sequence 334643 from Patent EP1572962.
JD110027 - Sequence 91051 from Patent EP1572962.
JD528934 - Sequence 509958 from Patent EP1572962.
JD245352 - Sequence 226376 from Patent EP1572962.
JD083840 - Sequence 64864 from Patent EP1572962.
JD458859 - Sequence 439883 from Patent EP1572962.
JD443348 - Sequence 424372 from Patent EP1572962.
JD394209 - Sequence 375233 from Patent EP1572962.
JD162323 - Sequence 143347 from Patent EP1572962.
JD229680 - Sequence 210704 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04730 - Long-term depression

Reactome (by CSHL, EBI, and GO)

Protein P19086 (Reactome details) participates in the following event(s):

R-HSA-392064 G alpha (z) inhibits adenylate cyclase
R-HSA-392133 G alpha (z) auto-inactivates by hydrolysing GTP to GDP
R-HSA-8982703 PKC binds active G alpha (z)
R-HSA-751024 The Ligand:GPCR:Gz complex dissociates
R-HSA-750988 Inactive G alpha (z) reassociates with G beta:gamma
R-HSA-8850560 G-protein alpha releases G-protein heterotrimer from PDCL
R-HSA-8982709 G-alpha(z):PKC dissociates to give phosphorylated G alpha (z)
R-HSA-751040 PKC phosphorylates G alpha (z)
R-HSA-749446 Liganded Gz-activating GPCRs bind inactive heterotrimeric G-protein Gz
R-HSA-167433 G-protein beta-gamma subunits rebind the alpha-GDP subunit
R-HSA-112037 Inactivation of PLC beta
R-HSA-167415 G-protein alpha subunit is inactivated
R-HSA-111870 Activation of PLC beta-1/4
R-HSA-112271 The receptor:G-protein complex dissociates
R-HSA-167429 The receptor:G-protein complex binds GTP
R-HSA-749453 Liganded Gz-activating GPCR acts as a GEF for Gz
R-HSA-167408 The high affinity receptor complex binds to G-protein
R-HSA-167419 The receptor:G-protein complex releases GDP
R-HSA-111879 PIP2 hydrolysis
R-HSA-418597 G alpha (z) signalling events
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-388396 GPCR downstream signalling
R-HSA-202040 G-protein activation
R-HSA-112043 PLC beta mediated events
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-372790 Signaling by GPCR
R-HSA-111885 Opioid Signalling
R-HSA-112040 G-protein mediated events
R-HSA-391251 Protein folding
R-HSA-162582 Signal Transduction
R-HSA-418594 G alpha (i) signalling events
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2R6C1, ENST00000615612.1, GNAZ_HUMAN, NM_002073, P19086, Q4QRJ6, uc002zwu.1, uc002zwu.2, uc002zwu.3
UCSC ID: ENST00000615612.2
RefSeq Accession: NM_002073
Protein: P19086 (aka GNAZ_HUMAN or GBAZ_HUMAN)
CCDS: CCDS13804.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.