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Aliases for GNB4 Gene

Aliases for GNB4 Gene

  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 4 2 3
  • Transducin Beta Chain 4 3 4
  • CMTD1F 3 6
  • Guanine Nucleotide-Binding Protein Subunit Beta-4 3
  • G Protein Beta-4 Subunit 3

External Ids for GNB4 Gene

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 (Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 4) is a Protein Coding gene. Diseases associated with GNB4 include autosomal dominant intermediate charcot-marie-tooth disease type f and charcot-marie-tooth disease, dominant intermediate f. Among its related pathways are PI3K-Akt signaling pathway and GPCR Pathway. GO annotations related to this gene include signal transducer activity. 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-receptor binding results in detachment of the G protein, switching it to an on state and permitting Galpha activation of second messenger signalling cascades. There are several types of Galpha proteins; in addition, some Gbetagamma subunits have active functions. Gbetagamma coupled to H1 receptors can activate PLA2 and Gbetagamma coupled to M1 receptors can activate KIR channels.

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

Genomic Location for GNB4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GNB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNB4 Gene

Regulatory Elements 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
  • Ubiquitination at Lys127

Other Protein References for GNB4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GNB4 Gene

Domains for GNB4 Gene

Gene Families for GNB4 Gene

HGNC:
  • WDR :WD repeat domain containing

UniProtKB/Swiss-Prot:

GBB4_HUMAN
Family:
  • Belongs to the WD repeat G protein beta family.:
    • Q9HAV0
Similarity:
  • Contains 7 WD repeats.:
    • Q9HAV0
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:0005515 protein binding --
GO:0032403 protein complex binding IDA 23209302
genes like me logo Genes that share ontologies with GNB4: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
plasma membrane 4
cytosol 3
nucleus 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with GNB4: view

Pathways for GNB4 Gene

SuperPathways for GNB4 Gene

Superpath Contained pathways
1 ADP signalling through P2Y purinoceptor 12
2 Development Angiotensin activation of ERK
3 Circadian entrainment
4 fMLP Pathway
5 GPCR Pathway
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:0007165 signal transduction IEA --
GO:0008219 cell death --
GO:0021762 substantia nigra development IEP 22926577
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with GNB4: view

Compounds for GNB4 Gene

(5) Tocris Compounds for GNB4 Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG [51116-01-9]
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]
Suramin hexasodium salt Non-selective P2 antagonist [129-46-4]

(3) HMDB Compounds for GNB4 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with GNB4: view

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 36
  • 99.51 (n)
  • 100 (a)
GNB4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNB4 36
  • 92.55 (n)
  • 99.71 (a)
GNB4 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNB4 36
  • 90.1 (n)
  • 99.71 (a)
GNB4 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnb4 36
  • 85.2 (n)
  • 96.76 (a)
Gnb4 16
Gnb4 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNB4 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB4 37
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnb4 36
  • 85.2 (n)
  • 97.06 (a)
chicken
(Gallus gallus)
Aves GNB4 36
  • 84.22 (n)
  • 95.29 (a)
GNB4 37
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNB4 37
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb4 36
  • 82.45 (n)
  • 95.29 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01087197.1 37
  • 89 (a)
OneToMany
gnb4b 37
  • 89 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gbeta13F 37
  • 81 (a)
OneToMany
Gbgr76C 38
  • 43 (a)
Gbgr13F 38
  • 81 (a)
worm
(Caenorhabditis elegans)
Secernentea gpb-1 37
  • 85 (a)
OneToMany
gpb-1 38
  • 84 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5204 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 37
  • 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

Selected 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 MAF
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 synonymous-codon, reference
rs1170650 -- 179,400,089(+) TGCTA(A/G)GGAAG utr-variant-3-prime
rs1344537 -- 179,445,863(-) ACAAA(A/G)GAAAT intron-variant

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

Relevant External Links for GNB4 Gene

HapMap Linkage Disequilibrium report
GNB4
Human Gene Mutation Database (HGMD)
GNB4

Disorders for GNB4 Gene

(1) OMIM Diseases for GNB4 Gene (610863)

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

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
  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 49
  3. The G protein subunit gene families. (PMID: 10644457) Downes G.B. … Gautam N. (Genomics 1999) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for GNB4 Gene

Sources for GNB4 Gene

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