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Gene Gene information from NCBI Gene database.
Entrez ID 59345
Gene name G protein subunit beta 4
Gene symbol GNB4
Synonyms (NCBI Gene)
CMTD1FHG2B
Chromosome 3
Chromosome location 3q26.33
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.
4
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.
837 Show/Hide all (837)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13 Show/Hide all (13)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610863 20731 ENSG00000114450
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 216 → 254 WD domain, G-beta repeat Repeat
PF00400 WD40 45 → 83 WD domain, G-beta repeat Repeat
PF00400 WD40 259 → 298 WD domain, G-beta repeat Repeat
PF00400 WD40 174 → 212 WD domain, G-beta repeat Repeat
PF00400 WD40 302 → 340 WD domain, G-beta repeat Repeat
PF00400 WD40 133 → 170 WD domain, G-beta repeat Repeat
PF00400 WD40 89 → 125 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 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 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.).
15
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
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Charcot-Marie-Tooth disease dominant intermediate F Pathogenic; Likely pathogenic rs1553851490, rs387907340, rs387907341, rs199615251, rs1714805406, rs1714910248 RCV000578374
RCV000034850
RCV000034851
RCV000754761
RCV001035012
View all (1 more)
★★★★★
★★★★★
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 (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATRIAL FIBRILLATION — CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
29892015, 29892015, 30061737, 35872910
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE F — Disgenet, Orphanet
Disgenet, Orphanet
23434117
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease Uncertain significance ClinVar
ClinGen, ClinVar, Disgenet, GWAS catalog
ClinGen, ClinVar, Disgenet, GWAS catalog
ClinGen, ClinVar, Disgenet, GWAS catalog
11842130, 23434117, 27908631, 28642160, 28793249
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F — CTD, HPO, ClinGen
CTD, HPO, ClinGen
ClinGen report
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (30)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 22142809 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 34271942 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 29892015, 30061737
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 29892015
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Charcot-Marie-Tooth Disease Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm LHGDN 18815590
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 18815590, 19414374
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30103729 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38154055, 39324668 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 18815590, 19414374
★★★★★
★☆☆☆☆
Found in Text Mining only