ENSG00000111664


Homo sapiens

Features
Gene ID: ENSG00000111664
  
Biological name :GNB3
  
Synonyms : GNB3 / G protein subunit beta 3 / P16520
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: p13.31
Gene start: 6839954
Gene end: 6847393
  
Corresponding Affymetrix probe sets: 206047_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000444325
Ensembl peptide - ENSP00000442002
Ensembl peptide - ENSP00000445967
Ensembl peptide - ENSP00000229264
Ensembl peptide - ENSP00000414734
Ensembl peptide - ENSP00000439753
NCBI entrez gene - 2784     See in Manteia.
OMIM - 139130
RefSeq - XM_011520953
RefSeq - NM_001297571
RefSeq - NM_002075
RefSeq Peptide - NP_001284500
RefSeq Peptide - NP_002066
swissprot - F5H8J8
swissprot - P16520
swissprot - E9PCP0
swissprot - F1T0G5
swissprot - F5H0S8
swissprot - F5GZN8
swissprot - F5H100
Ensembl - ENSG00000111664
  
Related genetic diseases (OMIM): 145500 - {Hypertension, essential, susceptibility to}, 145500
  617024 - Night blindness, congenital stationary, type 1H, 617024
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gnb3aENSDARG00000004358Danio rerio
 gnb3bENSDARG00000002696Danio rerio
 GNB3ENSGALG00000034438Gallus gallus
 Gnb3ENSMUSG00000023439Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GNB1 / P62873 / G protein subunit beta 1ENSG0000007836983
GNB2 / P62879 / G protein subunit beta 2ENSG0000017235481
GNB4 / Q9HAV0 / G protein subunit beta 4ENSG0000011445080
GNB5 / O14775 / G protein subunit beta 5ENSG0000006996651
WDR47 / O94967 / WD repeat domain 47ENSG0000008543325


Protein motifs (from Interpro)
Interpro ID Name
 IPR001632  G-protein, beta subunit
 IPR001680  WD40 repeat
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016346  Guanine nucleotide-binding protein, beta subunit
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR020472  G-protein beta WD-40 repeat
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006457 protein folding TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0008217 regulation of blood pressure TAS
 biological_processGO:0071377 cellular response to glucagon stimulus TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0044297 cell body IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003924 GTPase activity TAS
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030507 spectrin binding IEA
 molecular_functionGO:0051020 GTPase binding IPI


Pathways (from Reactome)
Pathway description
Activation of G protein gated Potassium channels
Glucagon signaling in metabolic regulation
G-protein activation
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
ADP signalling through P2Y purinoceptor 12
G beta:gamma signalling through PI3Kgamma
Prostacyclin signalling through prostacyclin receptor
Adrenaline,noradrenaline inhibits insulin secretion
Ca2+ pathway
G alpha (q) signalling events
G alpha (12/13) signalling events
G beta:gamma signalling through PLC beta
G alpha (s) signalling events
ADP signalling through P2Y purinoceptor 1
G alpha (i) signalling events
G alpha (z) signalling events
Glucagon-type ligand receptors
Thromboxane signalling through TP receptor
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
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000540 Hypermetropia 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007663 Decreased central vision 
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 HP:0007766 Hypoplastic optic disks 
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 HP:0008002 Macular pigmentary changes 
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 HP:0011003 Severe Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000186469 GNG2 / P59768 / G protein subunit gamma 2  / reaction / complex
 ENSG00000087460 GNAS / O95467 / Q5JWF2 / P63092 / P84996 / GNAS complex locus  / complex
 ENSG00000127588 GNG13 / Q9P2W3 / G protein subunit gamma 13  / complex
 ENSG00000136940 PDCL / Q13371 / phosducin like  / complex
 ENSG00000204681 GABBR1 / Q9UBS5 / gamma-aminobutyric acid type B receptor subunit 1  / complex
 ENSG00000136928 GABBR2 / O75899 / gamma-aminobutyric acid type B receptor subunit 2  / complex
 ENSG00000123700 KCNJ2 / P63252 / potassium voltage-gated channel subfamily J member 2  / complex
 ENSG00000162989 KCNJ3 / P48549 / potassium voltage-gated channel subfamily J member 3  / complex
 ENSG00000153822 KCNJ16 / Q9NPI9 / potassium voltage-gated channel subfamily J member 16  / complex
 ENSG00000168135 KCNJ4 / P48050 / potassium voltage-gated channel subfamily J member 4  / complex
 ENSG00000157551 KCNJ15 / Q99712 / potassium voltage-gated channel subfamily J member 15  / complex
 ENSG00000120457 KCNJ5 / P48544 / potassium voltage-gated channel subfamily J member 5  / complex
 ENSG00000184185 KCNJ12 / Q14500 / potassium voltage-gated channel subfamily J member 12  / complex
 ENSG00000162728 KCNJ9 / Q92806 / potassium voltage-gated channel subfamily J member 9  / complex
 ENSG00000177807 KCNJ10 / P78508 / potassium voltage-gated channel subfamily J member 10  / complex
 ENSG00000214415 GNAT3 / A8MTJ3 / G protein subunit alpha transducin 3  / complex
 ENSG00000215644 GCGR / P47871 / glucagon receptor  / reaction
 ENSG00000157542 KCNJ6 / P48051 / potassium voltage-gated channel subfamily J member 6  / complex






 

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