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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
  • GC15M055823

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 Intellectual Developmental Disorder With Cardiac Arrhythmia and Language Delay And Adhd/Cognitive Impairment With Or Without Cardiac Arrhythmia. Among its related pathways are GABAergic synapse and p75 NTR receptor-mediated signalling. 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

  • Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity).

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

Additional gene information 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
GH15H052099 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +89.3 89260 5.5 HDGF PKNOX1 ATF1 MLX ZNF121 ZNF207 ATF7 FOS RUNX3 JUNB MAPK6 GNB5 DMXL2 TMOD3 ENSG00000259712 BCL2L10
GH15H052005 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.9 +183.7 183652 4.3 HDGF PKNOX1 FOXA2 MLX ARID4B TCF12 GATA2 ZNF207 FOS ATF7 GNB5 LEO1 MIR4713HG GC15P052002 ENSG00000274528
GH15H052231 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.3 -42.5 -42484 5.2 HDGF BACH1 BATF ZNF366 POLR2A EED ATF7 ETV6 IKZF2 CREM MYO5C GNB5 MIR1266 TMOD3 FAM214A LOC105370820 GC15M056391 GC15M056876
GH15H052220 1.1 Ensembl ENCODE dbSUPER 17.7 -30.1 -30108 2.3 SREBF1 PKNOX1 ELF1 ZSCAN29 MLLT1 ETV6 RUNX3 GNB5 LOC105370820 PIR57877
GH15H052076 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +112.9 112873 4.7 FOXA2 PKNOX1 ARID4B DMAP1 YY1 TCF12 ZNF143 FOS RUNX3 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 Locations for GNB5 Gene

Genomic Locations for GNB5 Gene
chr15:52,115,105-52,191,369
(GRCh38/hg38)
Size:
76,265 bases
Orientation:
Minus strand
chr15:52,413,117-52,483,566
(GRCh37/hg19)

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-GNB5_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:
    • Component of a complex composed of RGS9 (isoform RGS9-1), GNB5 and RGS9BP; within this complex, the presence of GNB5 stabilizes both itself and RGS9 and increases RGS9 GTPase-activating protein (GAP) activity (By similarity) (PubMed:27677260). Interacts with RGS6 and RGS7 (PubMed:10339615, PubMed:10521509).

    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

Gene Families for GNB5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O14775

UniProtKB/Swiss-Prot:

GNB5_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:
Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity).

Phenotypes From GWAS Catalog for GNB5 Gene

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

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 3
nucleus 3
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nuclear speckles (2)
  • Rods & Rings (2)
See all subcellular structures

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:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007212 dopamine receptor signaling pathway IDA 27677260
GO:0043547 positive regulation of GTPase activity IDA 10521509
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:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GNB5 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 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

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-GNB5_HUMAN
Tissue specificity: Widely expressed.

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

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 33 34
  • 99.26 (n)
oppossum
(Monodelphis domestica)
Mammalia GNB5 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB5 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNB5 33 34
  • 93.67 (n)
dog
(Canis familiaris)
Mammalia GNB5 33 34
  • 93.13 (n)
rat
(Rattus norvegicus)
Mammalia Gnb5 33
  • 91.41 (n)
mouse
(Mus musculus)
Mammalia Gnb5 33 16 34
  • 90.21 (n)
chicken
(Gallus gallus)
Aves GNB5 33
  • 83.21 (n)
lizard
(Anolis carolinensis)
Reptilia GNB5 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb5 33
  • 81.3 (n)
Str.8147 33
zebrafish
(Danio rerio)
Actinopterygii gnb5a 34
  • 90 (a)
OneToMany
gnb5b 33 34
  • 74.94 (n)
gnb3a 34
  • 49 (a)
OneToMany
gnb3b 34
  • 48 (a)
OneToMany
zgc73196 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11240 33
fruit fly
(Drosophila melanogaster)
Insecta Gbgr5 35
  • 68 (a)
Gbeta5 33 34
  • 65.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012525 33
  • 63.75 (n)
worm
(Caenorhabditis elegans)
Secernentea gpb-2 35 33 34
  • 58.7 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06787g 33
  • 48.4 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR097W 33
  • 46.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE4 33 34 36
  • 45.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2578 34
  • 56 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10984 33
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
rs761399728 Pathogenic, Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LADCI) [MIM:617182] 52,153,947(+) GTGAC(A/G)AGCTC nc-transcript-variant, reference, missense
rs749597091 Pathogenic 52,124,617(+) TCATT(C/G)TATCC nc-transcript-variant, reference, stop-gained
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
rs886041054 Pathogenic 52,153,940(-) TCACA(A/G)GTATG nc-transcript-variant, reference, synonymous-codon

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

(5) MalaCards diseases for GNB5 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
intellectual developmental disorder with cardiac arrhythmia
  • iddca
language delay and adhd/cognitive impairment with or without cardiac arrhythmia
  • language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
attention deficit-hyperactivity disorder
  • attention deficit hyperactivity disorder
bradyopsia
  • prolonged electroretinal response suppression
miller fisher syndrome
  • fisher's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GNB5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNB5_HUMAN
  • Intellectual developmental disorder with cardiac arrhythmia (IDDCA) [MIM:617173]: An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux. {ECO:0000269 PubMed:27523599}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LADCI) [MIM:617182]: An autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction. {ECO:0000269 PubMed:27523599, ECO:0000269 PubMed:27677260}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 Genatlas for GNB5 Gene

Publications for GNB5 Gene

  1. Cloning and tissue distribution of the human G protein beta 5 cDNA. (PMID: 9606987) Jones PG … Cockett MI (Biochimica et biophysica acta 1998) 2 3 4 22 60
  2. GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition. (PMID: 27677260) Shamseldin HE … Alkuraya FS (Genome biology 2016) 3 4 60
  3. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. (PMID: 27523599) Lodder EM … Merla G (American journal of human genetics 2016) 3 4 60
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 45 60
  5. Role of molecular chaperones in G protein beta5/regulator of G protein signaling dimer assembly and G protein betagamma dimer specificity. (PMID: 19376773) Howlett AC … Willardson BM (The Journal of biological chemistry 2009) 3 22 60

Products for GNB5 Gene

Sources for GNB5 Gene

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