Gene Gene information from NCBI Gene database.
Entrez ID 10681
Gene name G protein subunit beta 5
Gene symbol GNB5
Synonyms (NCBI Gene)
GB5HG2EIDDCALADCILDMLS1LDMLS2gbeta5
Chromosome 15
Chromosome location 15q21.2
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.
8
SNP ID Visualize variation Clinical significance Consequence
rs749597091 G>A,C,T Pathogenic Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs761399728 G>A Pathogenic, not-provided, likely-pathogenic Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs766004901 T>C Pathogenic Intron variant, genic upstream transcript variant
rs773902879 G>A Pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs886041054 C>T Pathogenic Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
406
miRTarBase ID miRNA Experiments Reference
MIRT020117 hsa-miR-130b-3p Sequencing 20371350
MIRT021914 hsa-miR-128-3p Sequencing 20371350
MIRT025993 hsa-miR-148a-3p Sequencing 20371350
MIRT028691 hsa-miR-27a-3p Sequencing 20371350
MIRT028825 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity NAS 9606987
GO:0005096 Function GTPase activator activity IDA 27677260
GO:0005096 Function GTPase activator activity IDA 10521509
GO:0005515 Function Protein binding IPI 12606627, 19376773, 25036637, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604447 4401 ENSG00000069966
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14775
Protein name Guanine nucleotide-binding protein subunit beta-5 (Gbeta5) (Transducin beta chain 5)
Protein function Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, such as RGS7 and RGS9, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating
PDB 7EWP , 7EWR , 8SG8 , 8SG9 , 8SGC , 8SGL , 8SH9 , 8SHA , 8SHD , 8SHE , 8SHF , 8SHG , 8SHL , 8SHN , 8SHO , 8SHP , 8SHQ , 8SHT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 95 133 WD domain, G-beta repeat Repeat
PF00400 WD40 227 267 WD domain, G-beta repeat Repeat
PF00400 WD40 271 309 WD domain, G-beta repeat Repeat
PF00400 WD40 320 353 WD domain, G-beta repeat Repeat
PF00400 WD40 357 394 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9606987}.
Sequence
MCDQTFLVNVFGSCDKCFKQRALRPVFKKSQQLSYCSTCAEIMATEGLHENETLASLKSE
AESLKGKLEEERAKLHDVELHQVAERVEALGQFVMKTRRTLKGHGNKVLCMDWCKDKRRI
VSSSQDGKVIVWD
SFTTNKEHAVTMPCTWVMACAYAPSGCAIACGGLDNKCSVYPLTFDK
NENMAAKKKSVAMHTNYLSACSFTNSDMQILTASGDGTCALWDVESGQLLQSFHGHGADV
LCLDLAPSETGNTFVSGGCDKKAMVWD
MRSGQCVQAFETHESDINSVRYYPSGDAFASGS
DDATCRLYD
LRADREVAIYSKESIIFGASSVDFSLSGRLLFAGYNDYTINVWDVLKGSRV
SILFGHENRVSTLRVSPDGTAFCSGSWDHTLRVW
A
Sequence length 395
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ras signaling pathway
Chemokine signaling pathway
Hormone signaling
PI3K-Akt signaling pathway
Apelin signaling pathway
Circadian entrainment
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Relaxin signaling pathway
Morphine addiction
Alcoholism
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
  Activation of G protein gated Potassium channels
G-protein activation
Inactivation, recovery and regulation of the phototransduction cascade
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
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic; Pathogenic rs2141193854 RCV001814509
Attention deficit hyperactivity disorder Pathogenic rs761399728 RCV000239906
Cardiovascular phenotype Likely pathogenic rs1332666675 RCV005405047
Delayed speech and language development Pathogenic rs761399728 RCV000239906
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs117479818 RCV005911513
Clear cell carcinoma of kidney Benign rs34637551 RCV005905163
Fraser syndrome 3 Uncertain significance rs1253307264 RCV001251008
Lung cancer Benign rs34637551 RCV005905166
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 34573334
Alzheimer Disease Associate 32525932
Anxiety Associate 34684344
Arrhythmias Cardiac Associate 40565581
Asymptomatic Diseases Associate 32525932
Bradycardia Associate 34573334
Carcinoma Embryonal Associate 8679447
Cognition Disorders Associate 32525932
Colorectal Neoplasms Associate 30719834
Cytomegalovirus Infections Associate 31438890