Gene Gene information from NCBI Gene database.
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
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
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.
29
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.
MIM HGNC e!Ensembl
604397 4382 ENSG00000156049
Protein Protein information from UniProt database.
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.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Capillary malformation Pathogenic rs1554685903 RCV006254132
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital tufted angioma Pathogenic rs1554685903 RCV000662310
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kaposiform hemangioendothelioma Pathogenic rs1554685903 RCV000662310
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyogenic granuloma Pathogenic rs1554685903 RCV000662310
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANASTOMOSING HAEMANGIOMA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebrofacial arteriovenous metameric syndrome Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
High myopia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharospasm Blepharospasm BEFREE 29770609
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34657150 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35800238 Associate
★☆☆☆☆
Found in Text Mining only
Cholecystolithiasis Cholecystolithiasis GWASDB_DG 17632509
★☆☆☆☆
Found in Text Mining only
Cholelithiasis Cholelithiasis GWASDB_DG 17632509
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 30054423
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 30054423 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Temporal Lobe Temporal lobe epilepsy Pubtator 16060937 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy, Temporal Lobe Epilepsy BEFREE 16060937
★☆☆☆☆
Found in Text Mining only