GNB5 - G protein subunit beta 5 Gene

Homo sapiens

Also known as GB5; HG2E; IDDCA; LADCI; gbeta5

Gene ID: 10681 | Gene type: protein coding

About GNB5

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:52,115,100-52,191,392 (from NCBI)

This gene has 12 transcripts (splice variants), 283 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 9.7), kidney (RPKM 8.8) and 25 other tissues.

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]

GNB5 Products(3)

mRNA	Protein	Name
NM_001379343.1	NP_001366272.1	guanine nucleotide-binding protein subunit beta-5 isoform c
NM_006578.4	NP_006569.1	guanine nucleotide-binding protein subunit beta-5 isoform a
NM_016194.4	NP_057278.2	guanine nucleotide-binding protein subunit beta-5 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables G-protein gamma-subunit binding	IPI IPI: Inferred from physical interaction	12606627	GOA
contributes to GTPase activator activity	IDA IDA: Inferred from direct assay	27677260	GOA
enables GTPase activator activity	IDA IDA: Inferred from direct assay	10521509	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12606627	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	19376773	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in G protein-coupled dopamine receptor signaling pathway	IDA IDA: Inferred from direct assay	27677260	GOA
involved in negative regulation of voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	11007869	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	10521509	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	10521509	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GNB5 Protein Structure

WD40

0
100
200
300
395 a.a.

Protein Preferred Names

Protein Names

guanine nucleotide-binding protein subunit beta-5

G protein, beta subunit 5L

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Cardiac Arrhythmia

Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	IDDCA
Intellectual Developmental Disorder, With Cardiac Arrhythmia

Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia

LADCI	Language Delay And Adhd/Cognitive Impairment With Or Without Cardiac Arrhythmia
Language Delay, Adhd/Cognitive Impairment With/Without Cardiac Arrhythmia

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h	CSNB1H
Congenital Stationary Night Blindness Type 1h	Night Blindness, Congenital Stationary, 1h

Progressive Familial Heart Block, Type Ib

Progressive Familial Heart Block Type Ib	PFHB1B
Pfhbib	Progressive Familial Heart Block Type 1b
Heart Block Progressive Familial Type 1b	Progressive Familial Heart Block 1b
Cardiac Conduction Block	Right-Bundle Branch Block
Heart Block, Familial, Progressive, Type 1b	Heart Block
Right Bundle Branch Block

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05550	GNB5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GNB5	VGNC	VGNC:80963
Rattus norvegicus	GNB5	RGD	RGD:620759
Mus musculus	GNB5	MGD	MGI:101848
Canis familiaris	GNB5	VGNC	VGNC:41316
Macaca mulatta	GNB5	VGNC	VGNC:73097
Bos taurus	GNB5	VGNC	VGNC:29462

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