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    GNB5 G protein subunit beta 5 [ Homo sapiens (human) ]

    Gene ID: 10681, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GNB5provided by HGNC
    Official Full Name
    G protein subunit beta 5provided by HGNC
    Primary source
    HGNC:HGNC:4401
    See related
    Ensembl:ENSG00000069966 MIM:604447; AllianceGenome:HGNC:4401
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GB5; HG2E; IDDCA; LADCI; LDMLS1; LDMLS2; gbeta5
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 9.7), kidney (RPKM 8.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNB5 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (52115100..52191392, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (49923746..50000027, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (52407297..52483589, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268150 Neighboring gene Sharpr-MPRA regulatory region 14256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9422 Neighboring gene ribosomal protein S13 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6444 Neighboring gene BCL2 like 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9423 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:52472339-52472840 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:52483687-52484186 Neighboring gene competing endogenous lncRNA 1 for miR-4707-5p and miR-4767 Neighboring gene myosin VC Neighboring gene uncharacterized LOC105370820 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:52521219-52521393 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:52549514-52550090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:52552397-52552972 Neighboring gene microRNA 1266

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants. Pijuan J, et al. Clin Genet, 2024 Mar. PMID 37994112
    2. The role of Gβ5 in vision. Morhardt DR, et al. Prog Mol Biol Transl Sci, 2009. PMID 20374718
    3. Systems analysis identifies potential target genes to overcome cetuximab resistance in colorectal cancer cells. Park SM, et al. FEBS J, 2019 Apr. PMID 30719834
    4. The epileptology of GNB5 encephalopathy. Poke G, et al. Epilepsia, 2019 Nov. PMID 31631344
    5. IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations. Tang M, et al. J Hum Genet, 2020 Jul. PMID 32203251

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function.
      Title: The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function.
    2. Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
      Title: Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
    3. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
      Title: Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
    4. Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
      Title: Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
    5. Cryo-EM structure of human GPR158 receptor coupled to the RGS7-Gbeta5 signaling complex.
      Title: Cryo-EM structure of human GPR158 receptor coupled to the RGS7-Gβ5 signaling complex.
    6. Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gbeta5.
      Title: Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gβ5.
    7. IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.
      Title: IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.
    8. [Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].
      Title: [Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].
    9. provide mechanistic insights and proof of principle for potential therapy in patients carrying GNB5 mutations
      Title: Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (I(K,ACh)).
    10. GNB5 overexpression contributes to cetuximab resistance in colorectal cancer.
      Title: Systems analysis identifies potential target genes to overcome cetuximab resistance in colorectal cancer cells.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37457, FLJ43714

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein gamma-subunit binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor complex adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in G protein-coupled dopamine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in G protein-coupled dopamine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dark adaptation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in light adaption IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of GTPase activator complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cell tip IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein subunit beta-5
    Names
    G protein, beta subunit 5L
    guanine nucleotide binding protein (G protein), beta 5
    guanine nucleotide-binding protein, beta subunit 5L
    heterotrimeric guanine nucleotide-binding protein 2E
    transducin beta chain 5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052868.2 RefSeqGene

      Range
      5000..81292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001379343.1 → NP_001366272.1  guanine nucleotide-binding protein subunit beta-5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC010674, AC023906
      UniProtKB/TrEMBL
      A8K2R5
      Conserved Domains (2) summary
      cd00200
      Location:4 → 301
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:14 → 51
      7WD40; WD40 repeat [structural motif]

    2. NM_006578.4 → NP_006569.1  guanine nucleotide-binding protein subunit beta-5 isoform a

      See identical proteins and their annotated locations for NP_006569.1

      Status: REVIEWED

      Source sequence(s)
      AC023906, AF017656, BC013997
      Consensus CDS
      CCDS45261.1
      UniProtKB/TrEMBL
      A8K2R5
      Related
      ENSP00000351635.7, ENST00000358784.11
      Conserved Domains (2) summary
      cd00200
      Location:56 → 353
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:66 → 103
      7WD40; WD40 repeat [structural motif]

    3. NM_016194.4 → NP_057278.2  guanine nucleotide-binding protein subunit beta-5 isoform b

      See identical proteins and their annotated locations for NP_057278.2

      Status: REVIEWED

      Source sequence(s)
      AC010674, AC023906, AW967075, BC013997
      Consensus CDS
      CCDS10149.1
      UniProtKB/Swiss-Prot
      B2RBR5, O14775, Q9HAU9, Q9UFT3
      UniProtKB/TrEMBL
      A8K2R5
      Related
      ENSP00000261837.7, ENST00000261837.12
      Conserved Domains (2) summary
      cd00200
      Location:98 → 395
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:108 → 145
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      52115100..52191392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521162.4 → XP_011519464.1  guanine nucleotide-binding protein subunit beta-5 isoform X1

      UniProtKB/TrEMBL
      A8K2R5
      Conserved Domains (3) summary
      COG2319
      Location:54 → 352
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:56 → 353
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:66 → 103
      7WD40; WD40 repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      49923746..50000027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377211.1 → XP_054233186.1  guanine nucleotide-binding protein subunit beta-5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14775.2 GenPept UniProtKB/Swiss-Prot:O14775

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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