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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 Show/Hide all (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 Show/Hide all (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 Show/Hide all (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 271 → 309 WD domain, G-beta repeat Repeat
PF00400 WD40 357 → 394 WD domain, G-beta repeat Repeat
PF00400 WD40 227 → 267 WD domain, G-beta repeat Repeat
PF00400 WD40 320 → 353 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 Pathway Reactome Pathway
Ras signaling pathway Activation of G protein gated Potassium channels
Chemokine signaling pathway G-protein activation
Hormone signaling Inactivation, recovery and regulation of the phototransduction cascade
PI3K-Akt signaling pathway Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Apelin signaling pathway ADP signalling through P2Y purinoceptor 12
Circadian entrainment G beta:gamma signalling through PI3Kgamma
Retrograde endocannabinoid signaling Prostacyclin signalling through prostacyclin receptor
Glutamatergic synapse Adrenaline,noradrenaline inhibits insulin secretion
Cholinergic synapse Ca2+ pathway
Serotonergic synapse G alpha (q) signalling events
GABAergic synapse G alpha (12/13) signalling events
Dopaminergic synapse 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.).
22
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
Show/Hide Causal Diseases (10)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the nervous system Likely pathogenic; Pathogenic rs2141193854 RCV001814509
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Attention deficit hyperactivity disorder Pathogenic rs761399728 RCV000239906
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype Likely pathogenic rs1332666675 RCV005405047
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development Pathogenic rs761399728 RCV000239906
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Pathogenic; Likely pathogenic rs761399728 RCV000239906
RCV001255386
★★★★★
★★★★☆
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 (12)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 31173346
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS — CTD 25944804
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (47)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 32525932 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 34684344 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 40565581 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder Autism BEFREE 30631341
★★★★★
★☆☆☆☆
Found in Text Mining only
Bradycardia Bradycardia Pubtator 34573334 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Embryonal Embryonal carcinoma Pubtator 8679447 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 32525932 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 24172857
★★★★★
★☆☆☆☆
Found in Text Mining only