GNA14

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

Basic information

Region (hg38): 9:77423079-77648322

Links

ENSG00000156049 ∙ NCBI:9630 ∙ OMIM:604397 ∙ HGNC:4382 ∙ Uniprot:O95837 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GNA14 gene.

• Congenital tufted angioma;Pyogenic granuloma;Kaposiform hemangioendothelioma (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GNA14 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense	1		20		1	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	1	0	20	0	3

Variants in GNA14

This is a list of pathogenic ClinVar variants found in the GNA14 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-77423996-C-T		not specified	Uncertain significance (Feb 14, 2023)
9-77425594-G-C		not specified	Uncertain significance (May 05, 2022)
9-77425622-C-G		Cerebrofacial arteriovenous metameric syndrome • not specified	Uncertain significance (Mar 19, 2024)
9-77425661-A-G		not specified	Uncertain significance (Mar 18, 2024)
9-77425709-T-C		not specified	Uncertain significance (Jan 09, 2024)
9-77425711-C-G		not specified	Uncertain significance (May 08, 2024)
9-77425711-C-T		not specified	Uncertain significance (Sep 23, 2023)
9-77425712-G-A		not specified	Uncertain significance (Jun 19, 2024)
9-77428951-CA-C		High myopia	Uncertain significance (Dec 17, 2018)
9-77429002-G-A		not specified	Uncertain significance (Feb 28, 2023)
9-77429007-T-C		not specified	Uncertain significance (Aug 22, 2023)
9-77429016-T-A		Congenital tufted angioma;Pyogenic granuloma;Kaposiform hemangioendothelioma	Pathogenic (May 12, 2021)
9-77431365-G-A			Benign (Dec 31, 2019)
9-77431409-C-T		not specified	Uncertain significance (Feb 27, 2024)
9-77431430-G-A		not specified	Uncertain significance (Dec 02, 2022)
9-77431445-G-C		not specified	Uncertain significance (Jun 16, 2024)
9-77434396-C-G		not specified	Uncertain significance (May 01, 2024)
9-77434432-C-T		not specified	Uncertain significance (May 10, 2022)
9-77434476-A-G		Tufted angioma of skin	Uncertain significance (Aug 21, 2023)
9-77434492-C-T		not specified	Uncertain significance (Feb 07, 2023)
9-77529071-T-C		not specified	Uncertain significance (Nov 05, 2021)
9-77529120-C-T		not specified	Uncertain significance (Jan 04, 2024)
9-77529145-T-C		not specified	Uncertain significance (Oct 22, 2021)
9-77529146-T-C		not specified	Uncertain significance (May 31, 2023)
9-77529151-T-C		not specified	Uncertain significance (Apr 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GNA14	protein_coding	protein_coding	ENST00000341700	7	225229

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.43e-17	0.00113	125576	0	172	125748	0.000684

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.384	215	200	1.08	0.0000109	2346
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000485	0.000484
Ashkenazi Jewish	0.00159	0.00159
East Asian	0.000598	0.000598
Finnish	0.000416	0.000416
European (Non-Finnish)	0.000988	0.000985
Middle Eastern	0.000598	0.000598
South Asian	0.000394	0.000392
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.
• Pathway: Amoebiasis - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);G Protein Signaling Pathways;Signaling by GPCR;Signal Transduction;Thromboxane signalling through TP receptor;Metabolism;Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion;Acetylcholine regulates insulin secretion;Free fatty acids regulate insulin secretion;Regulation of insulin secretion;Signal amplification;Thrombin signalling through proteinase activated receptors (PARs);Platelet activation, signaling and aggregation;ADP signalling through P2Y purinoceptor 1;Hemostasis;Thromboxane A2 receptor signaling;Integration of energy metabolism;G alpha (q) signalling events;GPCR downstream signalling;PAR4-mediated thrombin signaling events;PAR1-mediated thrombin signaling events;LPA receptor mediated events;IL8- and CXCR1-mediated signaling events;S1P3 pathway;Arf6 signaling events;Plasma membrane estrogen receptor signaling;Sphingosine 1-phosphate (S1P) pathway;Endothelins;IL8- and CXCR2-mediated signaling events;S1P2 pathway (Consensus)

Recessive Scores

• pRec: 0.140

Intolerance Scores

• loftool: 0.372
• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.91

Haploinsufficiency Scores

• pHI: 0.314
• hipred: N
• hipred_score: 0.493
• ghis: 0.502

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.237

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gna14

Gene ontology

• 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
• Cellular component: heterotrimeric G-protein complex;plasma membrane;extracellular exosome
• Molecular function: G protein-coupled receptor binding;GTPase activity;protein binding;GTP binding;G-protein beta/gamma-subunit complex binding;metal ion binding