GNA14 (G protein subunit alpha 14)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9630
Gene name G protein subunit alpha 14
Gene symbol GNA14
Synonyms (NCBI Gene)
HG1I
Chromosome 9
Chromosome location 9q21.2
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
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1554685903 T>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
335
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (335)
miRTarBase ID miRNA Experiments Reference
MIRT018573 hsa-miR-335-5p Microarray 18185580
MIRT610988 hsa-miR-8485 HITS-CLIP 23824327
MIRT610987 hsa-miR-329-3p HITS-CLIP 23824327
MIRT610986 hsa-miR-362-3p HITS-CLIP 23824327
MIRT610985 hsa-miR-603 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001508 Process Action potential IBA
GO:0001664 Function G protein-coupled receptor binding IBA
GO:0001664 Function G protein-coupled receptor binding IEA
GO:0003924 Function GTPase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604397 4382 ENSG00000156049
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95837
Protein name Guanine nucleotide-binding protein subunit alpha-14 (G alpha-14) (G-protein subunit alpha-14)
Protein function Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00503 G-alpha 11 → 344 G-protein alpha subunit Domain
Sequence
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Calcium signaling pathway
Hormone signaling
Chagas disease
Amoebiasis 		  Acetylcholine regulates insulin secretion
G alpha (q) signalling events
ADP signalling through P2Y purinoceptor 1
Thromboxane signalling through TP receptor
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
Thrombin signalling through proteinase activated receptors (PARs)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Capillary malformation Pathogenic rs1554685903 RCV006254132
Congenital tufted angioma Pathogenic rs1554685903 RCV000662310
Kaposiform hemangioendothelioma Pathogenic rs1554685903 RCV000662310
Pyogenic granuloma Pathogenic rs1554685903 RCV000662310
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebrofacial arteriovenous metameric syndrome Uncertain significance rs200526690 RCV003159297
High myopia Uncertain significance rs746420384 RCV000785696
Tufted angioma of skin Uncertain significance rs45466295, rs1297597156 RCV003459000
RCV003459021
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Inhibit 34657150
Carcinoma Hepatocellular Associate 35800238
Endometrial Neoplasms Associate 30054423
Epilepsy Temporal Lobe Associate 16060937
Hemangioma Associate 31189994
Hypertension Associate 24423937, 30387149
Kasabach Merritt Syndrome Associate 31423605
Mouth Diseases Associate 27476652
Neoplasms Associate 27476652, 30387149, 31189994, 31423605
Neoplasms Stimulate 32235007