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Gene Gene information from NCBI Gene database.
Entrez ID 2784
Gene name G protein subunit beta 3
Gene symbol GNB3
Synonyms (NCBI Gene)
CSNB1HHG2D
Chromosome 12
Chromosome location 12p13.31
Summary Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene enc
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs140263599 C>T Pathogenic Missense variant, coding sequence variant
rs879253774 AGA>- Pathogenic Coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
39 Show/Hide all (39)
miRTarBase ID miRNA Experiments Reference
MIRT029954 hsa-miR-26b-5p Microarray 19088304
MIRT1023943 hsa-miR-204 CLIP-seq
MIRT1023944 hsa-miR-211 CLIP-seq
MIRT1023945 hsa-miR-2355-3p CLIP-seq
MIRT1023946 hsa-miR-3150a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27 Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity TAS 9425898
GO:0005515 Function Protein binding IPI 23773523, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol TAS
GO:0005834 Component Heterotrimeric G-protein complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139130 4400 ENSG00000111664
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16520
Protein name Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 (Transducin beta chain 3)
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
PF00400 WD40 216 → 254 WD domain, G-beta repeat Repeat
PF00400 WD40 45 → 83 WD domain, G-beta repeat Repeat
PF00400 WD40 302 → 340 WD domain, G-beta repeat Repeat
PF00400 WD40 174 → 212 WD domain, G-beta repeat Repeat
PF00400 WD40 259 → 298 WD domain, G-beta repeat Repeat
PF00400 WD40 133 → 170 WD domain, G-beta repeat Repeat
PF00400 WD40 86 → 125 WD domain, G-beta repeat Repeat
Sequence
Sequence length 340
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Ras signaling pathway Activation of G protein gated Potassium channels
Chemokine signaling pathway Glucagon signaling in metabolic regulation
Hormone signaling G-protein activation
PI3K-Akt signaling pathway Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Apelin signaling pathway Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Circadian entrainment ADP signalling through P2Y purinoceptor 12
Retrograde endocannabinoid signaling G beta:gamma signalling through PI3Kgamma
Glutamatergic synapse Prostacyclin signalling through prostacyclin receptor
Cholinergic synapse Adrenaline,noradrenaline inhibits insulin secretion
Serotonergic synapse Ca2+ pathway
GABAergic synapse G alpha (q) signalling events
Dopaminergic synapse G alpha (12/13) signalling events
Taste transduction G beta:gamma signalling through PLC beta
Relaxin signaling pathway G alpha (s) signalling events
Morphine addiction ADP signalling through P2Y purinoceptor 1
Alcoholism G alpha (i) signalling events
Human cytomegalovirus infection G alpha (z) signalling events
Kaposi sarcoma-associated herpesvirus infection Glucagon-type ligand receptors
Human immunodeficiency virus 1 infection Thromboxane signalling through TP receptor
Pathways in cancer Vasopressin regulates renal water homeostasis via Aquaporins
  Thrombin signalling through proteinase activated receptors (PARs)
  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.).
40
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
Congenital stationary night blindness 1H Pathogenic rs879253773, rs879253774 RCV000234969
RCV000234964
★★★★★
★★★★☆
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.
Show/Hide Unknown Diseases (39)
Phenotype Name Clinical Significance Source Reference Evidence Score
BIPOLAR DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (199)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 20570668
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 12818251
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16178055
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 9743540
★★★★★
★☆☆☆☆
Found in Text Mining only
Angina Unstable Angina pectoris Pubtator 20096003 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 29148080 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 12052841, 12424427, 17299380, 18551043, 25463071
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia with vitamin E deficiency Friedreich Ataxia BEFREE 30101547
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 12052841, 12424427, 17299380, 18551043, 25463071
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 15389246
★★★★★
★☆☆☆☆
Found in Text Mining only