GNB2 - G protein subunit beta 2 Gene

Homo sapiens

Also known as SSS4; HG2C1; SSS4; NEDHYDF

Gene ID: 2783 | Gene type: protein coding

About GNB2

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,673,740-100,679,169 (from NCBI)

This gene has 13 transcripts (splice variants), 194 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 67.4), prostate (RPKM 65.4) 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. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]

GNB2 Products(1)

mRNA	Protein	Name
NM_005273.4	NP_005264.2	guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase binding	IPI IPI: Inferred from physical interaction	19255495	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16498633	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	23209302	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	28219978	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	16498633	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	28219978	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

GNB2 Protein Structure

WD40

0
100
200
300
340 a.a.

Protein Preferred Names

Protein Names

guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2

G protein, beta-2 subunit

Related Diseases

Diseases

Alias

Sick Sinus Syndrome 4

SSS4

Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies

NEDHYDF

Sturge-Weber Syndrome

SWS	Encephalotrigeminal Angiomatosis
Encephalofacial Angiomatosis	Sturge-Weber-Dimitri Syndrome
Sturge-Weber-Krabbe Syndrome	Fourth Phacomatosis
Leptomeningeal Angiomatosis	Meningeal Capillary Angiomatosis
Sturge-Weber-Krabbe Angiomatosis	Sturge-Weber Syndrome, Somatic, Mosaic
Sws Type I - Facial And Leptomeningeal Angiomas	Sws Type Ii - Facial Angioma Alone, No Cns Involvement
Sws Type Iii - Isolated Leptomeningeal Angiomas	Sturge Weber Syndrome
Angiomatosis Aculoorbital-Thalamic Syndrome	Encephalofacial Hemangiomatosis
Encephalofacial Hemangiomatosis Syndrome	Meningo-Oculo-Facial Angiomatosis
Meningofacial Angiomatosis-Cerebral Calcification Syndrome	Neuroretinoangiomatosis
Phakomatosis, Sturge-Weber	Weber-Sturge-Dimitri Syndrome

Sick Sinus Syndrome

Sinus Node Dysfunction	Sinus Node Disease
Sinus Node Infection	Snd
Sss	Snd - [Sinus Node Dysfunction]
Sinoatrial Node Dysfunction	Sss - [Sick Sinus Syndrome]
Sick Sinus	Sick Sinus Tachycardia

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

Weber Syndrome

Midbrain Stroke Syndromes

Night Blindness, Congenital Stationary, Autosomal Dominant 2

Congenital Stationary Night Blindness Autosomal Dominant 2	CSNBAD2
Hemeralopia	Night Blindness, Congenital Stationary, Rambusch Type
Rambusch Type Congenital Stationary Night Blindness	Congenital Stationary Night Blindness Rambusch Type
Hemeralopia Congenital Essential	Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2

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-RS05547	GNB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GNB2	RGD	RGD:69319
Mus musculus	GNB2	MGD	MGI:95784
Canis familiaris	GNB2	VGNC	VGNC:41313
Macaca mulatta	GNB2	VGNC	VGNC:81318
Felis catus	GNB2	VGNC	VGNC:62621
Bos taurus	GNB2	VGNC	VGNC:29459
Others	GNB2	NCBI

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