GNAZ G protein subunit alpha z [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNAZprovided by HGNC
Official Full Name: G protein subunit alpha zprovided by HGNC
Primary source: HGNC:HGNC:4395
See related: Ensembl:ENSG00000128266 MIM:139160; AllianceGenome:HGNC:4395
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HG1H; gz-alpha
Summary: 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]
Expression: Broad expression in brain (RPKM 3.2), gall bladder (RPKM 1.3) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.22-q11.23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23070519..23125032)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (23493390..23547904)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (23412705..23467219)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpressed GNAZ predicts poor outcome and promotes G0/G1 cell cycle progression in hepatocellular carcinoma.
Title: Overexpressed GNAZ predicts poor outcome and promotes G0/G1 cell cycle progression in hepatocellular carcinoma.
Low GNAZ expression is associated with 22q11.2 deletion syndrome.
Title: Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.
GNAZ mutations are associated with melanoma.
Title: Novel somatic mutations in heterotrimeric G proteins in melanoma.
findings suggest that Galphaz signals may attenuate Rho-induced stimulation of SRF-mediated transcription
Title: Galphaz inhibits serum response factor-dependent transcription by inhibiting Rho signaling.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GNAZ (e-PCR)
- UniSTS:266611

WI-14102 (e-PCR)
- UniSTS:60283

RH1696 (e-PCR)
- UniSTS:87225

SHGC-7743 (e-PCR)
- UniSTS:9155

GDB:452621 (e-PCR)
- UniSTS:157395

G15854 (e-PCR)
- UniSTS:31224

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled serotonin receptor binding	IEA Inferred from Electronic Annotation more info
enables G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenylate cyclase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in G protein-coupled serotonin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of insulin secretion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell body	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: guanine nucleotide-binding protein G(z) subunit alpha

Names: g(x) alpha chain; guanine nucleotide binding protein (G protein), alpha z polypeptide; heterotrimeric guanine nucleotide-binding protein 1H; transducin alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002073.4 → NP_002064.1 guanine nucleotide-binding protein G(z) subunit alpha

See identical proteins and their annotated locations for NP_002064.1

Status: REVIEWED

Source sequence(s)

AC000029, BC037333, J03260

Consensus CDS

CCDS13804.1

UniProtKB/Swiss-Prot

B2R6C1, P19086, Q4QRJ6

UniProtKB/TrEMBL

Q8IY73, Q8N652

Related

ENSP00000478892.1, ENST00000615612.2

Conserved Domains (1) summary

cd00066
Location:34 → 349

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

23070519..23125032

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441346.1 → XP_047297302.1 guanine nucleotide-binding protein G(z) subunit alpha isoform X1
XM_017028786.3 → XP_016884275.1 guanine nucleotide-binding protein G(z) subunit alpha isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

23493390..23547904

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325577.1 → XP_054181552.1 guanine nucleotide-binding protein G(z) subunit alpha isoform X1
XM_054325578.1 → XP_054181553.1 guanine nucleotide-binding protein G(z) subunit alpha isoform X2