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

Summary

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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.
Title: IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.
[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].
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)).
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

Associated conditions

Description	Tests
Gnb5-related intellectual disability-cardiac arrhythmia syndrome MedGen: C5568877 OMIM: 617173 GeneReviews: GNB5-Related Neurodevelopmental Disorder	Compare labs
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia MedGen: C4310678 OMIM: 617182 GeneReviews: GNB5-Related Neurodevelopmental Disorder	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

D8S2279 (e-PCR)
- UniSTS:473907

GNB5_7978 (e-PCR)
- UniSTS:468061

STS-AA017518 (e-PCR)
- UniSTS:56420

A003P09 (e-PCR)
- UniSTS:11634

RH45294 (e-PCR)
- UniSTS:72863

G44711 (e-PCR)
- UniSTS:95186

STS-W49489 (e-PCR)
- UniSTS:58329

RH103431 (e-PCR)
- UniSTS:97756

SHGC-78877 (e-PCR)
- UniSTS:95719

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

NG_052868.2 RefSeqGene

Range

5000..81292

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

52115100..52191392 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]