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Gene Gene information from NCBI Gene database.
Entrez ID 55970
Gene name G protein subunit gamma 12
Gene symbol GNG12
Synonyms (NCBI Gene)
HG3A
Chromosome 1
Chromosome location 1p31.3
miRNA miRNA information provided by mirtarbase database.
1252 Show/Hide all (1252)
miRTarBase ID miRNA Experiments Reference
MIRT045070 hsa-miR-186-5p CLASH 23622248
MIRT038094 hsa-miR-423-5p CLASH 23622248
MIRT703276 hsa-miR-216a-5p HITS-CLIP 23313552
MIRT703275 hsa-miR-3529-3p HITS-CLIP 23313552
MIRT703274 hsa-miR-6504-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15 Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21988832, 25416956, 31515488, 32296183
GO:0005834 Component Heterotrimeric G-protein complex IBA
GO:0005834 Component Heterotrimeric G-protein complex IEA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615405 19663 ENSG00000172380
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBI6
Protein name Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12
Protein function Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G prote
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00631 G-gamma 7 → 72 GGL domain Domain
Sequence
Sequence length 72
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
MAPK signaling pathway Activation of G protein gated Potassium channels
Ras signaling pathway Glucagon signaling in metabolic regulation
Chemokine signaling pathway G-protein activation
Hormone signaling Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
PI3K-Akt signaling pathway ADP signalling through P2Y purinoceptor 12
Apelin signaling pathway G beta:gamma signalling through PI3Kgamma
Circadian entrainment Prostacyclin signalling through prostacyclin receptor
Retrograde endocannabinoid signaling Adrenaline,noradrenaline inhibits insulin secretion
Glutamatergic synapse Ca2+ pathway
Cholinergic synapse G alpha (q) signalling events
Serotonergic synapse G alpha (12/13) signalling events
GABAergic synapse G beta:gamma signalling through PLC beta
Dopaminergic synapse G alpha (s) signalling events
Regulation of actin cytoskeleton ADP signalling through P2Y purinoceptor 1
Relaxin signaling pathway G alpha (i) signalling events
Morphine addiction G alpha (z) signalling events
Alcoholism Glucagon-type ligand receptors
Human cytomegalovirus infection Thromboxane signalling through TP receptor
Kaposi sarcoma-associated herpesvirus infection Vasopressin regulates renal water homeostasis via Aquaporins
Human immunodeficiency virus 1 infection Thrombin signalling through proteinase activated receptors (PARs)
Pathways in cancer Presynaptic function of Kainate receptors
  Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
  G beta:gamma signalling through BTK
  G beta:gamma signalling through CDC42
  Extra-nuclear estrogen signaling
  ADORA2B mediated anti-inflammatory cytokines production
  Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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 Reference Evidence Score
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog 29228715
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (17)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 29228715
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23871723, 32735016 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31612059
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 29228715
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms GWASCAT_DG 29228715
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 22706224 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer BEFREE 31612059
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 32735016 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of large intestine Colorectal Neoplasms GWASCAT_DG 29228715
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms GWASCAT_DG 29228715
★★★★★
★☆☆☆☆
Found in Text Mining only