ENSG00000114450


Homo sapiens

Features
Gene ID: ENSG00000114450
  
Biological name :GNB4
  
Synonyms : GNB4 / G protein subunit beta 4 / Q9HAV0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q26.33
Gene start: 179396089
Gene end: 179451590
  
Corresponding Affymetrix probe sets: 223487_x_at (Human Genome U133 Plus 2.0 Array)   223488_s_at (Human Genome U133 Plus 2.0 Array)   225710_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000419693
Ensembl peptide - ENSP00000420606
Ensembl peptide - ENSP00000420066
Ensembl peptide - ENSP00000232564
NCBI entrez gene - 59345     See in Manteia.
OMIM - 610863
RefSeq - XM_005247692
RefSeq - XM_006713721
RefSeq - NM_021629
RefSeq Peptide - NP_067642
swissprot - Q9HAV0
swissprot - C9JD14
swissprot - H7C5J5
Ensembl - ENSG00000114450
  
Related genetic diseases (OMIM): 615185 - Charcot-Marie-Tooth disease, dominant intermediate F, 615185
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
 GNB4ENSDARG00000019278Danio rerio
 gnb4bENSDARG00000115383Danio rerio
 GNB4ENSGALG00000008983Gallus gallus
 Gnb4ENSMUSG00000027669Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GNB1 / P62873 / G protein subunit beta 1ENSG0000007836991
GNB2 / P62879 / G protein subunit beta 2ENSG0000017235490
GNB3 / P16520 / G protein subunit beta 3ENSG0000011166480
GNB5 / O14775 / G protein subunit beta 5ENSG0000006996652
WDR47 / O94967 / WD repeat domain 47ENSG0000008543328


Protein motifs (from Interpro)
Interpro ID Name
 IPR001632  G-protein, beta subunit
 IPR001680  WD40 repeat
 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:0021762 substantia nigra development HEP
 biological_processGO:0071377 cellular response to glucagon stimulus TAS
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0044877 protein-containing complex binding IDA


Pathways (from Reactome)
Pathway description
Glucagon signaling in metabolic regulation
G-protein activation
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001761 Pes cavus 
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 HP:0001765 Hammer toes 
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 HP:0002936 Distal sensory impairment 
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 HP:0003376 Steppage gait "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators]
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 HP:0003383 Onion bulb formations on nerve biopsy 
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 HP:0003450 Axonal regeneration on nerve biopsy 
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 HP:0003677 Slow progression 
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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
 ENSG00000136940 PDCL / Q13371 / phosducin like  / complex
 ENSG00000215644 GCGR / P47871 / glucagon receptor  / reaction






 

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