Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
59345
Gene name Gene Name - the full gene name approved by the HGNC.
G protein subunit beta 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNB4
Synonyms (NCBI Gene) Gene synonyms aliases
CMTD1F, HG2B
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs199615251 T>C Likely-pathogenic Coding sequence variant, missense variant
rs387907340 C>T Pathogenic Missense variant, coding sequence variant
rs387907341 T>C Pathogenic Missense variant, coding sequence variant
rs1553851490 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020371 hsa-miR-29c-3p Sequencing 20371350
MIRT020513 hsa-miR-155-5p Proteomics 18668040
MIRT022248 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT027970 hsa-miR-93-5p Sequencing 20371350
MIRT030715 hsa-miR-21-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IBA
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005829 Component Cytosol TAS
GO:0005834 Component Heterotrimeric G-protein complex IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610863 20731 ENSG00000114450
Protein
UniProt ID Q9HAV0
Protein name Guanine nucleotide-binding protein subunit beta-4 (Transducin beta chain 4)
Protein function Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G prote
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 45 83 WD domain, G-beta repeat Repeat
PF00400 WD40 89 125 WD domain, G-beta repeat Repeat
PF00400 WD40 133 170 WD domain, G-beta repeat Repeat
PF00400 WD40 174 212 WD domain, G-beta repeat Repeat
PF00400 WD40 216 254 WD domain, G-beta repeat Repeat
PF00400 WD40 259 298 WD domain, G-beta repeat Repeat
PF00400 WD40 302 340 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart. Abundantly expressed in the axons and Schwann cells of peripheral nerves. {ECO:0000269|PubMed:11842130, ECO:0000269|PubMed:23434117}.
Sequence
Sequence length 340
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
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease dominant intermediate F rs387907340, rs387907341, rs1553851490, rs199615251, rs1714805406, rs1714910248 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired ichthyosis Associate 36303457
Alzheimer Disease Associate 22142809
Arthritis Rheumatoid Stimulate 34271942
Breast Neoplasms Associate 30103729
Carcinoma Hepatocellular Associate 38154055, 39324668
Charcot Marie Tooth Disease Associate 23434117
Colorectal Neoplasms Associate 19414374, 36303457
Diabetes Mellitus Type 1 Associate 36303457
Emphysema Associate 30532529
Fibrocartilaginous embolism Associate 22142809