GNAZ

protein-coding

G protein subunit alpha z, the group of G protein subunits alpha, group i

Gene 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]

MANE transcript

NM_002073.4

Inheritance

—

ClinVar variants

U:23B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr22:23,070,519-23,125,032

External References & Databases

Ensembl (ENSG00000128266)

Transcript & Mutation Effects

hg38 • Region Span ~54.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GNAZ variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 21

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002073.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			21 clinvar			21
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	23	0	1	24

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002073.4	RefSeq	NP_002064.1	2	MANE Select
ENST00000615612.2	Ensembl	ENSP00000478892.1	2	MANE Select
ENST00000956660.1	Ensembl	ENSP00000626719.1	2	Standard
ENST00000956660.2	Ensembl	ENSP00000626719.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Long-term depression - Homo sapiens (human)
Corticotropin-releasing hormone signaling pathway
G Protein Signaling Pathways
Calcium Regulation in the Cardiac Cell
Signaling by GPCR

Biological Process

protein folding
G protein-coupled receptor signaling pathway
adenylate cyclase-modulating G protein-coupled receptor signaling pathway
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway

Molecular Function

G protein-coupled receptor binding
GTPase activity
protein binding
GTP binding
G-protein beta/gamma-subunit complex binding

Cellular Component

nuclear envelope
endoplasmic reticulum
cytosol
heterotrimeric G-protein complex
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000248996
Coding exons: 2
Length: 54685
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.35	96	243	0.395	0.0000180	2337
Missense (PolyPhen)		25	93.959	0.26607		880
Synonymous	-1.39	121	103	1.17	0.00000811	699
Loss of Function	2.97	0	10.2	0.00	4.43e-7	126

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.171

Intolerance Scores

LoFtool: 0.0239
RVIS EVS: -0.85
RVIS percentile EVS: 11.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium