GNB5 - G protein subunit beta 5 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10681

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

WD40: WD domain, G-beta repeat (98 - 133)

WD40

WD40: WD domain, G-beta repeat (149 - 174)

WD40

WD40: WD domain, G-beta repeat (193 - 223)

WD40

WD40: WD domain, G-beta repeat (227 - 267)

WD40

WD40: WD domain, G-beta repeat (271 - 309)

WD40

WD40: WD domain, G-beta repeat (329 - 353)

WD40

WD40: WD domain, G-beta repeat (359 - 394)

  • 0
  • 100
  • 200
  • 300
  • 395 a.a.
Protein Preferred Names Protein Names

guanine nucleotide-binding protein subunit beta-5

  • G protein, beta subunit 5L

GNB5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GNB5 O14775 PFDN5 Homo sapiens Q99471 25036637
Intra
GNB5 O14775 PFDN5 Homo sapiens Q99471 33961781
Intra
GNB5 O14775 RGS6 Homo sapiens P49758 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others GNB5 NCBI