GNA14

protein-coding

G protein subunit alpha 14, the group of G protein subunits alpha, group q

Gene summary

This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]

MANE transcript

NM_004297.4

Inheritance

ClinVar variants

P:1U:67B:4

Top phenotype

vascular neoplasm

gnomAD constraint

pLI —, LoF o/e 1.22

Max pathogenic AF

—

Genomic locus

chr9:77,423,079-77,648,322

External References & Databases

Ensembl (ENSG00000156049)

Transcript & Mutation Effects

hg38 • Region Span ~225.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

vascular neoplasmSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0024296

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GNA14 variants in ClinVar

11 Conditions Cataloged

not specifiedTotal: 55

not providedTotal: 8

Tufted angioma of skinTotal: 2

Cerebrofacial arteriovenous metameric syndromeTotal: 1

High myopiaTotal: 1

Congenital tufted angiomaTotal: 1

GNA14-related congenital vascular tumorsTotal: 1

GNA14-related disordersTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004297.4. 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			3 clinvar	1 clinvar	2 clinvar	6
missense		1 clinvar	59 clinvar		1 clinvar	61
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	1	67	1	3	72

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_004297.4	RefSeq	NP_004288.1	7	MANE Select
ENST00000341700.7	Ensembl	ENSP00000365807.4	7	MANE Select
ENST00001134190.1	Ensembl	ENSP00000810684.1	7	Standard
XM_047424110.1	RefSeq	XP_047280066.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Amoebiasis - Homo sapiens (human)
Chagas disease (American trypanosomiasis) - Homo sapiens (human)
Calcium signaling pathway - Homo sapiens (human)
G Protein Signaling Pathways
Signaling by GPCR

Biological Process

signal transduction
G protein-coupled receptor signaling pathway
adenylate cyclase-modulating G protein-coupled receptor signaling pathway
platelet activation
phospholipase C-activating dopamine 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

heterotrimeric G-protein complex
plasma membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000341700
Coding exons: 7
Length: 225229
Individuals with no LoFs: 125576
Homozygous LoFs: 0
Heterozygous LoFs: 172
Defined: 125748
p: 0.000684

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.384	215	200	1.08	0.0000109	2346
Missense (PolyPhen)		78	76.162	1.0241		965
Synonymous	-0.838	84	74.8	1.12	0.00000423	645
Loss of Function	-0.894	23	18.8	1.22	9.81e-7	212

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00018	0.00014	rare
Ashkenazi Jewish	0.0016	0.0016	notable
East Asian	0.00060	0.00060	rare
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.00099	0.00098	rare
South Asian	0.00039	0.00039	rare
Other	0.00033	0.00033	rare

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: 0.140

Intolerance Scores

LoFtool: 0.372
RVIS EVS: -0.13
RVIS percentile EVS: 43.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.237

Gene Damage Prediction

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