GNA15

protein-coding

G protein subunit alpha 15, the group of G protein subunits alpha, group q

Gene summary

Enables G protein-coupled receptor binding activity. Acts upstream of or within with a positive effect on calcium-mediated signaling. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_002068.4

Inheritance

—

ClinVar variants

U:59B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.37

Max pathogenic AF

—

Genomic locus

chr19:3,136,033-3,163,749

External References & Databases

Ensembl (ENSG00000060558)

Transcript & Mutation Effects

hg38 • Region Span ~27.7 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 GNA15 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 59

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002068.4. 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			59 clinvar	1 clinvar	2 clinvar	62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	1	3	63

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002068.4	RefSeq	NP_002059.3	7	MANE Select
ENST00000262958.4	Ensembl	ENSP00000262958.2	7	MANE Select
ENST00000592455.1	Ensembl	ENSP00000467256.1	2	Standard
ENST00001136904.1	Ensembl	ENSP00000803387.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Relaxin signaling pathway - Homo sapiens (human)
Amoebiasis - Homo sapiens (human)
Chagas disease (American trypanosomiasis) - Homo sapiens (human)
Calcium signaling pathway - Homo sapiens (human)
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

Biological Process

G protein-coupled receptor signaling pathway
adenylate cyclase-modulating G protein-coupled receptor signaling pathway
activation of phospholipase C activity
phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway
platelet activation

Molecular Function

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

Cellular Component

heterotrimeric G-protein complex
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000262958
Coding exons: 7
Length: 27577
Individuals with no LoFs: 125729
Homozygous LoFs: 1
Heterozygous LoFs: 17
Defined: 125747
p: 0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.18	200	253	0.792	0.0000176	2428
Missense (PolyPhen)		66	92.759	0.71152		887
Synonymous	-0.601	117	109	1.07	0.00000810	714
Loss of Function	2.51	7	18.8	0.373	9.84e-7	205

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000055	0.000054	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.000091	0.000079	rare
South Asian	0.000070	0.000065	rare
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.;

Intolerance Scores

LoFtool: 0.105
RVIS EVS: -0.49
RVIS percentile EVS: 22.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.766

Gene Damage Prediction

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