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Aliases for GNB4 Gene

Aliases for GNB4 Gene

  • G Protein Subunit Beta 4 2 3 5
  • Transducin Beta Chain 4 2 3 4
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 4 2 3
  • Guanine Nucleotide-Binding Protein Subunit Beta-4 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 Neuropathy Dominant Intermediate F. Among its related pathways are CCR5 Pathway in Macrophages and Aquaporin-mediated transport. GO annotations related to this gene include signal transducer activity and protein complex binding. An important paralog of this gene is GNB1.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G179448 1 ENCODE 23.5 +0.4 436 4.4 PKNOX1 ATF1 CREB3L1 SIN3A YY1 ZNF121 ZNF766 GLIS2 ELK1 FOS GNB4 MFN1 ENSG00000272699
GH03G179473 1 FANTOM5 Ensembl ENCODE 15 -22.3 -22264 1.5 HLF FOS GNB4 ENSG00000239255 MFN1 MTHFD2P7 PIR62273
GH03G179525 1 Ensembl ENCODE 12 -75.3 -75337 2.3 FOXA2 ETV1 RBBP5 CEBPG CHD7 ZIC2 RAD21 YY1 ETS1 POLR2A ENSG00000239255 GNB4 NDUFB5 ACTL6A PIR62273
GH03G179550 0.9 ENCODE 12.7 -99.8 -99822 1.7 HDGF CBX3 PKNOX1 TBL1XR1 ZBTB40 TCF12 GATA2 FOS SMAD5 ZBTB2 ENSG00000239255 GNB4 ACTL6A PIR62273
GH03G179546 0.7 ENCODE 11.7 -95.3 -95298 0.2 GATAD2A FOXA2 SAP130 ZNF644 THRB ZNF48 ZNF316 SMARCA4 SCRT2 FOXP2 ENSG00000239255 GNB4 ACTL6A PIR62273
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000162567 790 2401 CREB3L1 SIN3A ZNF766 GLIS2 ELK1 FOS ZNF263 REST ZNF592 GLIS1

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

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

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.
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

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:0004871 signal transducer activity IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GNB4

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
extracellular 5
cytosol 5
lysosome 5
plasma membrane 4
nucleus 2

Gene Ontology (GO) - Cellular Components for GNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0043209 myelin sheath IEA --
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

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
2 ADP signalling through P2Y purinoceptor 12
3 fMLP Pathway
4 Presynaptic function of Kainate receptors
5 Development Dopamine D2 receptor transactivation of EGFR
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:0006457 protein folding TAS --
GO:0007165 signal transduction IEA --
GO:0021762 substantia nigra development IEP 22926577
GO:0071377 cellular response to glucagon stimulus TAS --
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
8-Bromo-cGMP, sodium salt
51116-01-9
CMPD101
865608-11-3
Gallein
2103-64-2
G-Protein antagonist peptide
143675-79-0
Pertussis Toxin
70323-44-3

(5) Tocris Compounds for GNB4 Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG 51116-01-9
CMPD101 Potent and selective GRK2/3 inhibitor 865608-11-3
Gallein Inhibitor of betagamma signaling 2103-64-2
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt 70323-44-3
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GNB4

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for GNB4 Gene



Protein tissue co-expression partners for GNB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of GNB4 Gene:

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(4.6)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
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

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
chimpanzee
(Pan troglodytes)
Mammalia GNB4 34 35
  • 99.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GNB4 35
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNB4 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNB4 34 35
  • 92.55 (n)
dog
(Canis familiaris)
Mammalia GNB4 34 35
  • 90.1 (n)
mouse
(Mus musculus)
Mammalia Gnb4 34 16 35
  • 85.2 (n)
rat
(Rattus norvegicus)
Mammalia Gnb4 34
  • 85.2 (n)
chicken
(Gallus gallus)
Aves GNB4 34 35
  • 84.22 (n)
lizard
(Anolis carolinensis)
Reptilia GNB4 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb4 34
  • 82.45 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01087197.1 35
  • 89 (a)
OneToMany
gnb4b 35
  • 89 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gbgr13F 36
  • 81 (a)
Gbeta13F 35
  • 81 (a)
OneToMany
Gbgr76C 36
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea gpb-1 36 35
  • 84 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 35
  • 76 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5204 34
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)

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
rs387907340 Pathogenic, Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185] 179,419,444(-) GAGGG(A/G)CCACC reference, missense
rs387907341 Pathogenic, Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185] 179,416,495(-) CAAAT(A/G)AGGTA reference, missense
rs878855069 Likely benign 179,405,335(-) CGTGC(A/G)GATCA reference, synonymous-codon
rs864622729 Uncertain significance 179,419,406(-) GATAC(A/G)ATTCC reference, missense
rs1362650 Benign 179,419,485(+) CCCAC(A/G)GAGTC reference, synonymous-codon

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)

Relevant External Links for GNB4 Gene

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

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, dominant intermediate 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
  • charcot marie tooth muscular atrophy
- 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 22 64
  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 22 46 64
  3. Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. (PMID: 23434117) Soong B.W. … Lee Y.C. (Am. J. Hum. Genet. 2013) 3 4 64
  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 Res. 2009) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for GNB4 Gene

Sources for GNB4 Gene

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