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Gene Gene information from NCBI Gene database.
Entrez ID 2782
Gene name G protein subunit beta 1
Gene symbol GNB1
Synonyms (NCBI Gene)
HG2AMDSMRD42
Chromosome 1
Chromosome location 1p36.33
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.
17 Show/Hide all (17)
SNP ID Visualize variation Clinical significance Consequence
rs752746786 A>C,G,T Pathogenic, likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs758432471 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs869312821 T>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs869312822 A>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs869312823 T>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
690 Show/Hide all (690)
miRTarBase ID miRNA Experiments Reference
MIRT023929 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT027151 hsa-miR-103a-3p Sequencing 20371350
MIRT027365 hsa-miR-101-3p Sequencing 20371350
MIRT031864 hsa-miR-16-5p Sequencing 20371350
MIRT031864 hsa-miR-16-5p Microarray 21199864
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32 Show/Hide all (32)
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IEA
GO:0003924 Function GTPase activity IDA 1543505
GO:0003924 Function GTPase activity TAS 3095147
GO:0005515 Function Protein binding IPI 16782902, 17500595, 23739333, 25036637, 25416956, 28437792, 32296183, 32528175, 32814053, 33961781, 35271311
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139380 4396 ENSG00000078369
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62873
Protein name Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 (Transducin beta chain 1)
Protein function Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems (PubMed:29925951, PubMed:33762731, PubMed:34239069, PubMed:35610220, PubMed:35714614, PubMed:35835867, PubMed:3
PDB 4KFM , 4PNK , 5HE0 , 5HE1 , 5HE2 , 5HE3 , 5UKK , 5UKL , 5UKM , 5UZ7 , 6B3J , 6CRK , 6D9H , 6DDE , 6DDF , 6E3Y , 6EG8 , 6G79 , 6GDG , 6KPF , 6KPG , 6LFM , 6LFO , 6LI3 , 6LMK , 6LML , 6M1H , 6M1I , 6M8S , 6N4B , 6NI3 , 6NIY , 6OIJ , 6OIK , 6OMM , 6ORV , 6OS9 , 6OSA , 6OT0 , 6P9X , 6P9Y , 6PB0 , 6PB1 , 6PT0 , 6UUN , 6UUS , 6UVA , 6VCB , 6VMS , 6VN7 , 6WHA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 216 → 254 WD domain, G-beta repeat Repeat
PF00400 WD40 174 → 212 WD domain, G-beta repeat Repeat
PF00400 WD40 45 → 83 WD domain, G-beta repeat Repeat
PF00400 WD40 258 → 298 WD domain, G-beta repeat Repeat
PF00400 WD40 304 → 340 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 Activation of the phototransduction cascade
Apelin signaling pathway Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Circadian entrainment Olfactory Signaling Pathway
Retrograde endocannabinoid signaling ADP signalling through P2Y purinoceptor 12
Glutamatergic synapse G beta:gamma signalling through PI3Kgamma
Cholinergic synapse Prostacyclin signalling through prostacyclin receptor
Serotonergic synapse Adrenaline,noradrenaline inhibits insulin secretion
GABAergic synapse Ca2+ pathway
Dopaminergic synapse G alpha (q) signalling events
Olfactory transduction G alpha (12/13) signalling events
Phototransduction 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.).
42
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 (21)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute lymphoid leukemia Likely pathogenic; Pathogenic rs752746786, rs869312821 RCV004767128
RCV000225283
RCV000225357
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical behavior Pathogenic rs1570640673 RCV001003565
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder Likely pathogenic; Pathogenic rs758432471 RCV001291375
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant non-syndromic intellectual disability Likely pathogenic rs2522267389 RCV003150607
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral tonic-clonic seizure Likely pathogenic rs869312826 RCV000210260
★★★★★
★★★★☆
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 (21)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANXIETY DISORDERS — CTD, Disgenet
CTD, Disgenet
22113448
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER — CTD 22113448
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL REGRESSION — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (82)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder CTD_human_DG 22113448
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic Anxiety Disorder CTD_human_DG 22113448
★★★★★
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 28087732 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 37453880 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23603342
★★★★★
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37152370 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 29332336 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 30820140 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only