GNA14 G protein subunit alpha 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNA14provided by HGNC
Official Full Name: G protein subunit alpha 14provided by HGNC
Primary source: HGNC:HGNC:4382
See related: Ensembl:ENSG00000156049 MIM:604397; AllianceGenome:HGNC:4382
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: HG1I
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]
Expression: Broad expression in thyroid (RPKM 10.6), endometrium (RPKM 6.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q21.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (77423079..77648322, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (89579647..89805301, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (80037995..80263238, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.
Title: GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.
GNA14's interaction with RACK1 inhibits hepatocellular carcinoma progression through reducing MAPK/JNK and PI3K/AKT signaling pathway.
Title: GNA14's interaction with RACK1 inhibits hepatocellular carcinoma progression through reducing MAPK/JNK and PI3K/AKT signaling pathway.
Hypermethylation of GNA14 and its tumor-suppressive role in hepatitis B virus-related hepatocellular carcinoma.
Title: Hypermethylation of GNA14 and its tumor-suppressive role in hepatitis B virus-related hepatocellular carcinoma.
GNA14 stimulation of KLF7 promotes malignant growth of endometrial cancer through upregulation of HAS2.
Title: GNA14 stimulation of KLF7 promotes malignant growth of endometrial cancer through upregulation of HAS2.
our study demonstrated recurrent GNA14/GNAQ/GNA11 mutations were present in the majority of cherry hemangiomas and established its neoplastic nature
Title: High frequency of GNA14, GNAQ, and GNA11 mutations in cherry hemangioma: a histopathological and molecular study of 85 cases indicating GNA14 as the most commonly mutated gene in vascular neoplasms.
These data suggest that GNA14 distinctively mediates fetoplacental endothelial cell migration and permeability
Title: G Protein α Subunit 14 Mediates Fibroblast Growth Factor 2-Induced Cellular Responses in Human Endothelial Cells.
Galphaq/14-regulated CCR2 non canonical receptor signaling was analyzed. the 8th helix of both CCR2a and CCR2b is critically involved in selectively activating Galphaq/14-regulated signaling.
Title: Arginine 313 of the putative 8th helix mediates Gα(q/14) coupling of human CC chemokine receptors CCR2a and CCR2b.
All hepatic small vessel neoplasms in our series demonstrated recurrent mutations in GNAQ or GNA14 in a mutually exclusive manner
Title: Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm.
GNA14 expression is increased in endometrial carcinoma tissues.GNA14 role in the proliferation and cell cycle arrest in the endometrial carcinoma cells.
Title: GNA14 silencing suppresses the proliferation of endometrial carcinoma cells through inducing apoptosis and G(2)/M cell cycle arrest.
14 of 15 (93%) anastomosing haemangiomas in the case series showed recurrent mutations in GNAQ or GNA14.
Title: Recurrent GNA14 mutations in anastomosing haemangiomas.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. 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

SHGC-82681 (e-PCR)
- UniSTS:102401

SHGC-143870 (e-PCR)
- UniSTS:172071

RH70085 (e-PCR)
- UniSTS:62276

RH103280 (e-PCR)
- UniSTS:97612

GNA14_8966 (e-PCR)
- UniSTS:471448

SHGC-155377 (e-PCR)
- UniSTS:184991

RH122457 (e-PCR)
- UniSTS:135329

SHGC-141947 (e-PCR)
- UniSTS:174010

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 beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	TAS Traceable Author Statement more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	TAS Traceable Author Statement 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 action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: guanine nucleotide-binding protein subunit alpha-14

Names: g alpha-14; guanine nucleotide binding protein (G protein), alpha 14; guanine nucleotide-binding protein 14; heterotrimeric guanine nucleotide-binding protein 1I

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.