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Aliases for GNB4 Gene

Aliases for GNB4 Gene

  • G Protein Subunit Beta 4 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 4 2 3 5
  • Transducin Beta Chain 4 3 4
  • 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 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F. Among its related pathways are Thromboxane signalling through TP receptor and EphB-EphrinB Signaling. GO annotations related to this gene include signal transducer activity and protein complex binding. An important paralog of this gene is WDR47.

UniProtKB/Swiss-Prot 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNB4 Gene

Genomics for GNB4 Gene

Regulatory Elements for GNB4 Gene

Enhancers for GNB4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GNB4 on UCSC Golden Path with GeneCards custom track

Promoters for GNB4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GNB4 on UCSC Golden Path with GeneCards custom track

Genomic Location for GNB4 Gene

Chromosome:
3
Start:
179,396,088 bp from pter
End:
179,451,590 bp from pter
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

Proteomics data for GNB4 Gene at MOPED

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

Suggested Antigen Peptide Sequences for GNB4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HAV0

UniProtKB/Swiss-Prot:

GBB4_HUMAN :
  • Belongs to the WD repeat G protein beta family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat G protein beta family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with GNB4: view

Function for GNB4 Gene

Molecular function for GNB4 Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein 4
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.

Gene Ontology (GO) - Molecular Function for GNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032403 protein 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

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
Jensen Localization Image for GNB4 Gene COMPARTMENTS Subcellular localization image for GNB4 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
plasma membrane 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for GNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 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

SuperPathways for GNB4 Gene

Superpath Contained pathways
1 Circadian entrainment
2 Development Angiotensin activation of ERK
3 fMLP Pathway
4 G-protein activation
5 Presynaptic function of Kainate receptors
genes like me logo Genes that share pathways with GNB4: view

Gene Ontology (GO) - Biological Process for GNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006457 protein folding TAS --
GO:0021762 substantia nigra development IEP 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
mastoparan
72093-21-1
Mastoparan X
72093-22-2
NF 023
104869-31-0
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
Mastoparan Activates Gi and Go 72093-21-1
Mastoparan X G protein activator peptide 72093-22-2
NF 023 Selective, competitive P2X1 antagonist 104869-31-0
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

Unigene Clusters for GNB4 Gene

Guanine nucleotide binding protein (G protein), beta polypeptide 4:
Representative Sequences:

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
ECgene alternative splicing isoforms for
GNB4

Expression for GNB4 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for GNB4 Gene



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.
genes like me logo Genes that share expression patterns with GNB4: view

Protein tissue co-expression partners for GNB4 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia GNB4 35
  • 92.55 (n)
  • 99.71 (a)
GNB4 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNB4 35
  • 90.1 (n)
  • 99.71 (a)
GNB4 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnb4 35
  • 85.2 (n)
  • 96.76 (a)
Gnb4 16
Gnb4 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNB4 35
  • 99.51 (n)
  • 100 (a)
GNB4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnb4 35
  • 85.2 (n)
  • 97.06 (a)
oppossum
(Monodelphis domestica)
Mammalia GNB4 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB4 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNB4 35
  • 84.22 (n)
  • 95.29 (a)
GNB4 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNB4 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb4 35
  • 82.45 (n)
  • 95.29 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01087197.1 36
  • 89 (a)
OneToMany
gnb4b 36
  • 89 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gbgr13F 37
  • 81 (a)
Gbgr76C 37
  • 43 (a)
Gbeta13F 36
  • 81 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gpb-1 37
  • 84 (a)
gpb-1 36
  • 85 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5204 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 36
  • 76 (a)
OneToMany
Species with no ortholog for GNB4:
  • 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)

Paralogs for GNB4 Gene

Paralogs for GNB4 Gene

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

genes like me logo Genes that share paralogs with GNB4: view

Variants for GNB4 Gene

Sequence variations from dbSNP and Humsavar for GNB4 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_069908 Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF)
VAR_069909 Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF)
rs10474 -- 179,396,256(+) TAACA(C/T)GTTTA utr-variant-3-prime
rs10592 -- 179,396,683(-) CTCCT(A/G)TGTCT utr-variant-3-prime
rs1078749 -- 179,426,153(-) CGGAA(C/T)CAGAT reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv829806 CNV Gain 17160897
nsv471116 CNV Gain 18288195
nsv4139 CNV Insertion 18451855
esv2665201 CNV Deletion 23128226

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)

Relevant External Links for GNB4 Gene

Human Gene Mutation Database (HGMD)
GNB4

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

Disorders for GNB4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GNB4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, dominant intermediate f
  • cmtdif
autosomal dominant intermediate charcot-marie-tooth disease type f
  • charcot-marie-tooth disease, dominant intermediate f
charcot-marie-tooth neuropathy dominant intermediate f
  • charcot-marie-tooth disease, dominant intermediate f
charcot-marie-tooth disease
  • dejerine-sottas disease
charcot-marie-tooth hereditary neuropathy
  • charcot-marie-tooth disease
- 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.

Relevant External Links for GNB4

Genetic Association Database (GAD)
GNB4
Human Genome Epidemiology (HuGE) Navigator
GNB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNB4
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 H.L. III (Physiol. Genomics 2002) 2 3 4 23 67
  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. (Pharmacogenet. Genomics 2008) 3 23
  3. The human G protein beta4 subunit: gene structure, expression, Ggamma and effector interaction. (PMID: 12782285) Rosskopf D. … Siffert W. (FEBS Lett. 2003) 3 23
  4. The G protein subunit gene families. (PMID: 10644457) Downes G.B. … Gautam N. (Genomics 1999) 2 3
  5. The Dual Estrogen Receptor I+ Inhibitory Effects of the Tissue-Selective Estrogen Complex for Endometrial and Breast Safety. (PMID: 26487511) Han S.J. … O'Malley B.W. (Mol. Pharmacol. 2016) 3

Products for GNB4 Gene

Sources for GNB4 Gene

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