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Aliases for GNB5 Gene

Aliases for GNB5 Gene

  • G Protein Subunit Beta 5 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Beta 5 2 3
  • Transducin Beta Chain 5 3 4
  • Gbeta5 3 4
  • Guanine Nucleotide-Binding Protein, Beta Subunit 5L 3
  • Guanine Nucleotide-Binding Protein Subunit Beta-5 3
  • G Protein, Beta Subunit 5L 3
  • IDDCA 3
  • LADCI 3
  • GB5 3

External Ids for GNB5 Gene

Previous GeneCards Identifiers for GNB5 Gene

  • GC15M047972
  • GC15M045460
  • GC15M049992
  • GC15M050129
  • GC15M050201
  • GC15M052413
  • GC15M029244
  • GC15M052416
  • GC15M052686
  • GC15M054212
  • GC15M054935
  • GC15M055376

Summaries for GNB5 Gene

Entrez Gene Summary for GNB5 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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

GeneCards Summary for GNB5 Gene

GNB5 (G Protein Subunit Beta 5) is a Protein Coding gene. Diseases associated with GNB5 include Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia and Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism. Among its related pathways are CCR5 Pathway in Macrophages and Aquaporin-mediated transport. GO annotations related to this gene include GTPase activity and chaperone binding. An important paralog of this gene is GNB1.

UniProtKB/Swiss-Prot for GNB5 Gene

  • Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. 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 GNB5 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 GNB5 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNB5 Gene

Genomics for GNB5 Gene

Regulatory Elements for GNB5 Gene

Enhancers for GNB5 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
GH15G052099 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +89.3 89260 5.5 HDGF PKNOX1 ATF1 MLX WRNIP1 SIN3A YY1 ZNF121 GATA2 ZNF207 MAPK6 GNB5 DMXL2 TMOD3 ENSG00000259712 BCL2L10
GH15G052231 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.3 -42.5 -42484 5.2 HDGF ZFP64 SIN3A ZBTB7B ZNF121 GLIS2 ELK1 FOS ZNF202 JUNB MYO5C GNB5 MIR1266 ENSG00000259935 SCG3 ENSG00000259709 TMOD3 FAM214A LOC105370820 GC15M055949
GH15G052005 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.9 +183.7 183652 4.3 HDGF PKNOX1 FOXA2 MLX ARID4B ZNF207 FOS SP5 ZHX2 MXD4 GNB5 LEO1 MIR4713HG GC15P052002 ENSG00000274528
GH15G052220 1.2 Ensembl ENCODE dbSUPER 17.7 -30.1 -30108 2.3 TBP PKNOX1 ESRRA MTA2 TBX21 SREBF1 ARID3A PBX2 ETV6 IRF1 GNB5 LOC105370820 PIR57877
GH15G052076 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +112.9 112873 4.7 PKNOX1 ARID4B DMAP1 YBX1 ZNF48 YY1 TCF12 ZNF143 FOS SP5 MAPK6 BCL2L10 LYSMD2 GNB5 ENSG00000259178 DMXL2 ENSG00000259398
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNB5 on UCSC Golden Path with GeneCards custom track

Genomic Location for GNB5 Gene

Chromosome:
15
Start:
52,115,105 bp from pter
End:
52,191,369 bp from pter
Size:
76,265 bases
Orientation:
Minus strand

Genomic View for GNB5 Gene

Genes around GNB5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNB5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNB5 Gene

Proteins for GNB5 Gene

  • Protein details for GNB5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14775-GBB5_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein subunit beta-5
    Protein Accession:
    O14775
    Secondary Accessions:
    • B2RBR5
    • Q9HAU9
    • Q9UFT3

    Protein attributes for GNB5 Gene

    Size:
    395 amino acids
    Molecular mass:
    43566 Da
    Quaternary structure:
    • Heterotrimeric G proteins are composed of 3 subunits; alpha, beta and gamma. Interacts with RGS9. Component of a complex composed of RGS9 (isoform RGS9-1), GNB5 and RGS9BP (By similarity). Interacts with RGS6 and RGS7 (PubMed:10521509, PubMed:10339615).

    Alternative splice isoforms for GNB5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNB5 Gene

Post-translational modifications for GNB5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GNB5 Gene

Domains & Families for GNB5 Gene

Graphical View of Domain Structure for InterPro Entry

O14775

UniProtKB/Swiss-Prot:

GBB5_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 GNB5: view

Function for GNB5 Gene

Molecular function for GNB5 Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein 5,involved in signal transduction
UniProtKB/Swiss-Prot Function:
Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. 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 GNB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity NAS 9606987
GO:0004871 signal transducer activity NAS 9606987
GO:0005096 contributes_to GTPase activator activity IDA 27677260
GO:0005515 protein binding IPI 12606627
GO:0031682 G-protein gamma-subunit binding IPI 12606627
genes like me logo Genes that share ontologies with GNB5: view
genes like me logo Genes that share phenotypes with GNB5: view

Animal Models for GNB5 Gene

MGI Knock Outs for GNB5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GNB5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GNB5 Gene

Localization for GNB5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNB5 Gene

Membrane.

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 GNB5 gene
Compartment Confidence
cytosol 5
plasma membrane 2
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for GNB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with GNB5: view

Pathways & Interactions for GNB5 Gene

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
2 fMLP Pathway
3 Presynaptic function of Kainate receptors
4 ADP signalling through P2Y purinoceptor 12
5 Development Dopamine D2 receptor transactivation of EGFR
genes like me logo Genes that share pathways with GNB5: view

Gene Ontology (GO) - Biological Process for GNB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007165 signal transduction IEA,NAS 9606987
GO:0007212 dopamine receptor signaling pathway IDA 27677260
GO:0043547 positive regulation of GTPase activity IDA 10521509
GO:1901386 negative regulation of voltage-gated calcium channel activity IDA 11007869
genes like me logo Genes that share ontologies with GNB5: view

No data available for SIGNOR curated interactions for GNB5 Gene

Drugs & Compounds for GNB5 Gene

(3) Drugs for GNB5 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 GNB5 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 GNB5 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 GNB5: view

Transcripts for GNB5 Gene

Unigene Clusters for GNB5 Gene

Guanine nucleotide binding protein (G protein), beta 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GNB5

Alternative Splicing Database (ASD) splice patterns (SP) for GNB5 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ·
SP1: - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - -
SP4: - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - - -
SP7: - -
SP8: -
SP9:
SP10:

ExUns: 13c · 13d ^ 14a · 14b · 14c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for GNB5 Gene

GeneLoc Exon Structure for
GNB5
ECgene alternative splicing isoforms for
GNB5

Expression for GNB5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNB5 Gene

Protein differential expression in normal tissues from HIPED for GNB5 Gene

This gene is overexpressed in Frontal cortex (25.2), Retina (14.9), Peripheral blood mononuclear cells (11.7), and Fetal Brain (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GNB5 Gene



Protein tissue co-expression partners for GNB5 Gene

NURSA nuclear receptor signaling pathways regulating expression of GNB5 Gene:

GNB5

SOURCE GeneReport for Unigene cluster for GNB5 Gene:

Hs.155090

mRNA Expression by UniProt/SwissProt for GNB5 Gene:

O14775-GBB5_HUMAN
Tissue specificity: Expressed in multiple tissues.

Evidence on tissue expression from TISSUES for GNB5 Gene

  • Nervous system(4.9)
  • Eye(2.6)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with GNB5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNB5 Gene

Orthologs for GNB5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GNB5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNB5 34 35
  • 99.26 (n)
oppossum
(Monodelphis domestica)
Mammalia GNB5 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB5 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNB5 35 34
  • 93.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GNB5 35 34
  • 93.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnb5 34
  • 91.41 (n)
mouse
(Mus musculus)
Mammalia Gnb5 16 35 34
  • 90.21 (n)
chicken
(Gallus gallus)
Aves GNB5 34
  • 83.21 (n)
lizard
(Anolis carolinensis)
Reptilia GNB5 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb5 34
  • 81.3 (n)
Str.8147 34
zebrafish
(Danio rerio)
Actinopterygii gnb5a 35
  • 90 (a)
OneToMany
gnb5b 34 35
  • 74.94 (n)
gnb3a 35
  • 49 (a)
OneToMany
gnb3b 35
  • 48 (a)
OneToMany
zgc73196 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11240 34
fruit fly
(Drosophila melanogaster)
Insecta Gbgr5 36
  • 68 (a)
Gbeta5 34 35
  • 65.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012525 34
  • 63.75 (n)
worm
(Caenorhabditis elegans)
Secernentea gpb-2 36 34 35
  • 58.7 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06787g 34
  • 48.4 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR097W 34
  • 46.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE4 34 35 37
  • 45.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2578 35
  • 56 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10984 34
Species where no ortholog for GNB5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 GNB5 Gene

ENSEMBL:
Gene Tree for GNB5 (if available)
TreeFam:
Gene Tree for GNB5 (if available)

Paralogs for GNB5 Gene

Paralogs for GNB5 Gene

genes like me logo Genes that share paralogs with GNB5: view

Variants for GNB5 Gene

Sequence variations from dbSNP and Humsavar for GNB5 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_077994 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LADCI) [MIM:617182]
rs749597091 Pathogenic 52,124,617(+) TCATT(C/G)TATCC nc-transcript-variant, reference, stop-gained
rs761399728 Pathogenic 52,153,947(+) GTGAC(A/G)AGCTC nc-transcript-variant, reference, missense
rs766004901 Pathogenic 52,153,937(+) TGACA(C/T)ACCTG intron-variant
rs773902879 Pathogenic 52,124,529(+) AACTC(A/G)TAGAG nc-transcript-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for GNB5 Gene

Variant ID Type Subtype PubMed ID
esv2571437 CNV deletion 19546169
esv2667228 CNV deletion 23128226
esv3636484 CNV loss 21293372
nsv1047647 CNV gain 25217958
nsv471244 CNV gain 18288195
nsv833005 CNV gain 17160897

Variation tolerance for GNB5 Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNB5 Gene

Human Gene Mutation Database (HGMD)
GNB5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNB5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNB5 Gene

Disorders for GNB5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GNB5 Gene - From: Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
  • language delay and adhd/cognitive impairment with or without cardiac arrhythmia
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
bradyopsia
  • prolonged electroretinal response suppression
miller fisher syndrome
  • fisher's syndrome
pol iii-related leukodystrophies
  • leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
- elite association - COSMIC cancer census association via MalaCards
Search GNB5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GNB5

Genetic Association Database (GAD)
GNB5
Human Genome Epidemiology (HuGE) Navigator
GNB5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNB5
genes like me logo Genes that share disorders with GNB5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNB5 Gene

Publications for GNB5 Gene

  1. Cloning and tissue distribution of the human G protein beta 5 cDNA. (PMID: 9606987) Jones P.G. … Cockett M.I. (Biochim. Biophys. Acta 1998) 2 3 4 22 64
  2. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 46 64
  3. Role of molecular chaperones in G protein beta5/regulator of G protein signaling dimer assembly and G protein betagamma dimer specificity. (PMID: 19376773) Howlett A.C. … Willardson B.M. (J. Biol. Chem. 2009) 3 22 64
  4. Hepatitis B virus X protein interacts with beta5 subunit of heterotrimeric guanine nucleotide binding protein. (PMID: 16135253) Lwa S.H. … Chen W.N. (Virol. J. 2005) 3 22 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 GNB5 Gene

Sources for GNB5 Gene

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