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 encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction rece... See more...

Aliases for GNB4 Gene

Aliases for GNB4 Gene

  • G Protein Subunit Beta 4 2 3 5
  • Guanine Nucleotide-Binding Protein Subunit Beta-4 2 3 4
  • Transducin Beta Chain 4 2 3 4
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 4 2 3
  • G Protein Beta-4 Subunit 3
  • CMTD1F 3

External Ids for GNB4 Gene

Previous GeneCards Identifiers for GNB4 Gene

  • GC03M175882
  • GC03M179959
  • GC03M180519
  • GC03M180437
  • GC03M180599
  • GC03M179113
  • GC03M176517

Summaries for GNB4 Gene

Entrez Gene Summary for GNB4 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 encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]

GeneCards Summary for GNB4 Gene

GNB4 (G Protein Subunit Beta 4) is a Protein Coding gene. Diseases associated with GNB4 include Charcot-Marie-Tooth Disease, Dominant Intermediate F and Charcot-Marie-Tooth Disease. Among its related pathways are Signaling by GPCR and CCR5 Pathway in Macrophages. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity. An important paralog of this gene is GNB1.

UniProtKB/Swiss-Prot Summary for GNB4 Gene

  • 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 protein-effector interaction.

Tocris Summary for GNB4 Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNB4 Gene

Additional gene information for GNB4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNB4 Gene

Genomics for GNB4 Gene

GeneHancer (GH) Regulatory Elements for GNB4 Gene

Promoters and enhancers for GNB4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J179448 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 523.4 +0.4 428 4.4 EP300 NRF1 PHF8 ZFX POLR2A ZBTB11 ZBTB26 REST KLF4 RFX1 GNB4 ENSG00000239255 ACTL6A MFN1 lnc-KCNMB3-3
GH03J179453 Enhancer 0.4 Ensembl 29.8 -3.3 -3318 2.2 CEBPG POU2F2 ZNF384 CEBPB EZH2 GNB4 ENSG00000239255 MTHFD2P7
GH03J179525 Enhancer 0.9 ENCODE CraniofacialAtlas 12 -75.3 -75343 2.3 ZIC2 HDAC2 NFIC GABPA CEBPG YY1 NANOG TCF12 NR2F2 ETS1 lnc-MRPL47-1 ENSG00000239255 GNB4 NDUFB5 piR-52324-049
GH03J179546 Enhancer 0.8 Ensembl ENCODE 12.8 -95.4 -95385 1.1 ZFX ZBTB26 FOXA2 ZNF316 SAP130 MXD4 FOSL2 BCL6 NFE2 THRB ENSG00000239255 GNB4 ACTL6A lnc-MRPL47-1
GH03J179473 Enhancer 0.6 FANTOM5 ENCODE 15 -22.1 -22093 1.1 FOS HLF POLR2A GNB4 ENSG00000239255 MTHFD2P7 piR-31199-243
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNB4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNB4

Top Transcription factor binding sites by QIAGEN in the GNB4 gene promoter:
  • AREB6
  • C/EBPalpha
  • CHOP-10
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Sox5

Genomic Locations for GNB4 Gene

Genomic Locations for GNB4 Gene
chr3:179,396,088-179,451,583
(GRCh38/hg38)
Size:
55,496 bases
Orientation:
Minus strand
chr3:179,113,876-179,169,378
(GRCh37/hg19)
Size:
55,503 bases
Orientation:
Minus strand

Genomic View for GNB4 Gene

Genes around GNB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNB4 Gene

Proteins for GNB4 Gene

  • Protein details for GNB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAV0-GBB4_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein subunit beta-4
    Protein Accession:
    Q9HAV0
    Secondary Accessions:
    • B3KMH5
    • D3DNR8

    Protein attributes for GNB4 Gene

    Size:
    340 amino acids
    Molecular mass:
    37567 Da
    Quaternary structure:
    • G proteins are composed of 3 units, alpha, beta and gamma.

neXtProt entry for GNB4 Gene

Post-translational modifications for GNB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNB4 Gene

No data available for DME Specific Peptides for GNB4 Gene

Domains & Families for GNB4 Gene

Gene Families for GNB4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GNB4 Gene

Blocks:
  • G-protein beta WD-40 repeat signature
  • Beta G-protein (transducin) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GNB4 Gene

GenScript: Design optimal peptide antigens:
  • Transducin beta chain 4 (GBB4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HAV0

UniProtKB/Swiss-Prot:

GBB4_HUMAN :
  • Belongs to the WD repeat G protein beta family.
Family:
  • Belongs to the WD repeat G protein beta family.
genes like me logo Genes that share domains with GNB4: view

Function for GNB4 Gene

Molecular function for GNB4 Gene

UniProtKB/Swiss-Prot 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 protein-effector interaction.
GENATLAS Biochemistry:
guanine nucleotide binding protein 4

Phenotypes From GWAS Catalog for GNB4 Gene

Gene Ontology (GO) - Molecular Function for GNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044877 protein-containing complex binding IDA 23209302
genes like me logo Genes that share ontologies with GNB4: view
genes like me logo Genes that share phenotypes with GNB4: view

Human Phenotype Ontology for GNB4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GNB4 Gene

Localization for GNB4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNB4 gene
Compartment Confidence
cytosol 5
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane HDA 17897319
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with GNB4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GNB4 Gene

Pathways & Interactions for GNB4 Gene

PathCards logo

SuperPathways for GNB4 Gene

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
.73
.73
.68
.65
.54
.48
.45
.40
2 ADP signalling through P2Y purinoceptor 12
.43
3 fMLP Pathway
.44
.44
.43
.42
.39
.38
.30
4 G-Beta Gamma Signaling
.46
.46
.44
.37
.32
.30
5 Presynaptic function of Kainate receptors
.37
genes like me logo Genes that share pathways with GNB4: view

Pathways by source for GNB4 Gene

34 GeneGo (Thomson Reuters) pathways for GNB4 Gene
  • Apoptosis and survival BAD phosphorylation
  • Cell adhesion Integrin inside-out signaling
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling Reverse signaling by ephrin B
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
71 Qiagen pathways for GNB4 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR

Gene Ontology (GO) - Biological Process for GNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007165 signal transduction IEA --
GO:0021762 substantia nigra development HEP 22926577
genes like me logo Genes that share ontologies with GNB4: view

No data available for SIGNOR curated interactions for GNB4 Gene

Drugs & Compounds for GNB4 Gene

(3) Drugs for GNB4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNB4 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNB4 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNB4: view

Transcripts for GNB4 Gene

mRNA/cDNA for GNB4 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNB4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2: -
SP3: -
SP4: -

Relevant External Links for GNB4 Gene

GeneLoc Exon Structure for
GNB4

Expression for GNB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNB4 Gene

Protein differential expression in normal tissues from HIPED for GNB4 Gene

This gene is overexpressed in Brain (12.2) and Frontal cortex (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNB4 Gene



Protein tissue co-expression partners for GNB4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNB4

SOURCE GeneReport for Unigene cluster for GNB4 Gene:

Hs.173030

mRNA Expression by UniProt/SwissProt for GNB4 Gene:

Q9HAV0-GBB4_HUMAN
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.

Evidence on tissue expression from TISSUES for GNB4 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNB4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • head
Limb:
  • digit
  • foot
  • lower limb
  • toe
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GNB4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GNB4 Gene

Orthologs for GNB4 Gene

This gene was present in the common ancestor of animals.

Orthologs for GNB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNB4 31 30
  • 99.51 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB4 31
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNB4 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNB4 31 30
  • 92.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GNB4 31 30
  • 90.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gnb4 17 31 30
  • 85.2 (n)
rat
(Rattus norvegicus)
Mammalia Gnb4 30
  • 85.2 (n)
chicken
(Gallus gallus)
Aves GNB4 31 30
  • 84.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNB4 31
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb4 30
  • 82.45 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01087197.1 31
  • 89 (a)
OneToMany
gnb4b 31
  • 89 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gbeta13F 31
  • 81 (a)
OneToMany
G&bgr;13F 32
  • 81 (a)
G&bgr;76C 32
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea gpb-1 31 32
  • 85 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 31
  • 76 (a)
OneToMany
Cin.5204 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5204 30
Species where no ortholog for GNB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNB4 Gene

ENSEMBL:
Gene Tree for GNB4 (if available)
TreeFam:
Gene Tree for GNB4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNB4: view image

Paralogs for GNB4 Gene

Paralogs for GNB4 Gene

(8) SIMAP similar genes for GNB4 Gene using alignment to 3 proteins:

  • GBB4_HUMAN
  • C9JD14_HUMAN
  • H7C5J5_HUMAN
genes like me logo Genes that share paralogs with GNB4: view

Variants for GNB4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNB4 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
640327 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate F 179,420,899(-) G/A MISSENSE_VARIANT
640798 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate F 179,413,537(-) A/C MISSENSE_VARIANT
640868 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate F 179,405,347(-) A/C MISSENSE_VARIANT
647446 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate F 179,405,196(-) G/A MISSENSE_VARIANT
649448 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate F 179,419,495(-) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GNB4 Gene

Structural Variations from Database of Genomic Variants (DGV) for GNB4 Gene

Variant ID Type Subtype PubMed ID
dgv4999n100 CNV gain 25217958
esv2665201 CNV deletion 23128226
esv3598842 CNV loss 21293372
esv3598843 CNV loss 21293372
nsv1073266 CNV deletion 25765185
nsv4139 CNV insertion 18451855
nsv471116 CNV gain 18288195
nsv592650 CNV gain 21841781
nsv829806 CNV gain 17160897

Variation tolerance for GNB4 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNB4 Gene

Human Gene Mutation Database (HGMD)
GNB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNB4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNB4 Gene

Disorders for GNB4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GNB4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, dominant intermediate f
  • cmtdif
charcot-marie-tooth disease
  • peroneal muscular atrophy
tooth disease
  • tooth disorders
- elite association - COSMIC cancer census association via MalaCards
Search GNB4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GBB4_HUMAN
  • Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range. {ECO:0000269 PubMed:23434117}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GNB4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GNB4: view

No data available for Genatlas for GNB4 Gene

Publications for GNB4 Gene

  1. Cloning, tissue distribution, and functional expression of the human G protein beta 4-subunit. (PMID: 11842130) Ruiz-Velasco V … Puhl HL (Physiological genomics 2002) 2 3 4 23 54
  2. Characterization of intron-1 haplotypes of the G protein beta 4 subunit gene--association with survival and progression in patients with urothelial bladder carcinoma. (PMID: 18815590) Riemann K … Siffert W (Pharmacogenetics and genomics 2008) 3 23 41 54
  3. Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. (PMID: 23434117) Soong BW … Lee YC (American journal of human genetics 2013) 3 4 54
  4. Association of GNB4 intron-1 haplotypes with survival in patients with UICC stage III and IV colorectal carcinoma. (PMID: 19414374) Riemann K … Siffert W (Anticancer research 2009) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for GNB4 Gene

Sources for GNB4 Gene