Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2783
Gene name	G protein subunit beta 2
Gene symbol	GNB2
Synonyms (NCBI Gene)	HG2C1NEDHYDFSSS4SSS4; NEDHYDF
Chromosome	7
Chromosome location	7q22.1
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 enc

104

Show/Hide all (104)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023870	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT051197	hsa-miR-16-5p	CLASH	23622248
MIRT050393	hsa-miR-23a-3p	CLASH	23622248
MIRT043396	hsa-miR-331-3p	CLASH	23622248
MIRT043102	hsa-miR-324-5p	CLASH	23622248
MIRT041719	hsa-miR-484	CLASH	23622248
MIRT040606	hsa-miR-92b-3p	CLASH	23622248
MIRT037626	hsa-miR-744-5p	CLASH	23622248
MIRT489970	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT489969	hsa-miR-3914	PAR-CLIP	23592263
MIRT489968	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT489967	hsa-miR-5587-3p	PAR-CLIP	23592263
MIRT489966	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT489965	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT489964	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489963	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT489962	hsa-miR-296-5p	PAR-CLIP	23592263
MIRT489961	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT489959	hsa-miR-4488	PAR-CLIP	23592263
MIRT489960	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT489958	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT489957	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT489956	hsa-miR-4447	PAR-CLIP	23592263
MIRT489955	hsa-miR-4472	PAR-CLIP	23592263
MIRT440549	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440549	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT489970	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT489969	hsa-miR-3914	PAR-CLIP	23592263
MIRT489968	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT489967	hsa-miR-5587-3p	PAR-CLIP	23592263
MIRT489966	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT489965	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT489964	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489963	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT489962	hsa-miR-296-5p	PAR-CLIP	23592263
MIRT489961	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT489959	hsa-miR-4488	PAR-CLIP	23592263
MIRT489960	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT489958	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT489957	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT489956	hsa-miR-4447	PAR-CLIP	23592263
MIRT489955	hsa-miR-4472	PAR-CLIP	23592263
MIRT1023883	hsa-miR-1207-5p	CLIP-seq
MIRT1023884	hsa-miR-1236	CLIP-seq
MIRT1023885	hsa-miR-1255a	CLIP-seq
MIRT1023886	hsa-miR-1255b	CLIP-seq
MIRT1023887	hsa-miR-1915	CLIP-seq
MIRT1023888	hsa-miR-1976	CLIP-seq
MIRT1023889	hsa-miR-298	CLIP-seq
MIRT1023890	hsa-miR-3176	CLIP-seq
MIRT1023891	hsa-miR-3179	CLIP-seq
MIRT1023892	hsa-miR-3194-5p	CLIP-seq
MIRT1023893	hsa-miR-3202	CLIP-seq
MIRT1023894	hsa-miR-361-3p	CLIP-seq
MIRT1023895	hsa-miR-3616-3p	CLIP-seq
MIRT1023896	hsa-miR-3622b-5p	CLIP-seq
MIRT1023897	hsa-miR-3679-3p	CLIP-seq
MIRT1023898	hsa-miR-370	CLIP-seq
MIRT1023899	hsa-miR-3918	CLIP-seq
MIRT1023900	hsa-miR-3922-3p	CLIP-seq
MIRT1023901	hsa-miR-3928	CLIP-seq
MIRT1023902	hsa-miR-3945	CLIP-seq
MIRT1023903	hsa-miR-4253	CLIP-seq
MIRT1023904	hsa-miR-4265	CLIP-seq
MIRT1023905	hsa-miR-4268	CLIP-seq
MIRT1023906	hsa-miR-4271	CLIP-seq
MIRT1023907	hsa-miR-4290	CLIP-seq
MIRT1023908	hsa-miR-4296	CLIP-seq
MIRT1023909	hsa-miR-4316	CLIP-seq
MIRT1023910	hsa-miR-4322	CLIP-seq
MIRT1023911	hsa-miR-4417	CLIP-seq
MIRT1023912	hsa-miR-4436b-3p	CLIP-seq
MIRT1023913	hsa-miR-4448	CLIP-seq
MIRT1023914	hsa-miR-4492	CLIP-seq
MIRT1023915	hsa-miR-4498	CLIP-seq
MIRT1023916	hsa-miR-4505	CLIP-seq
MIRT1023917	hsa-miR-4512	CLIP-seq
MIRT1023918	hsa-miR-4667-3p	CLIP-seq
MIRT1023919	hsa-miR-4685-5p	CLIP-seq
MIRT1023920	hsa-miR-4710	CLIP-seq
MIRT1023921	hsa-miR-4721	CLIP-seq
MIRT1023922	hsa-miR-4725-3p	CLIP-seq
MIRT1023923	hsa-miR-4747-5p	CLIP-seq
MIRT1023924	hsa-miR-4749-3p	CLIP-seq
MIRT1023925	hsa-miR-4763-3p	CLIP-seq
MIRT1023926	hsa-miR-520a-5p	CLIP-seq
MIRT1023927	hsa-miR-525-5p	CLIP-seq
MIRT1023928	hsa-miR-648	CLIP-seq
MIRT1023929	hsa-miR-661	CLIP-seq
MIRT1023930	hsa-miR-762	CLIP-seq
MIRT1023931	hsa-miR-922	CLIP-seq
MIRT1023901	hsa-miR-3928	CLIP-seq
MIRT1023883	hsa-miR-1207-5p	CLIP-seq
MIRT1023884	hsa-miR-1236	CLIP-seq
MIRT1023888	hsa-miR-1976	CLIP-seq
MIRT1023892	hsa-miR-3194-5p	CLIP-seq
MIRT1023894	hsa-miR-361-3p	CLIP-seq
MIRT1023897	hsa-miR-3679-3p	CLIP-seq
MIRT1023898	hsa-miR-370	CLIP-seq
MIRT1023905	hsa-miR-4268	CLIP-seq
MIRT1023912	hsa-miR-4436b-3p	CLIP-seq
MIRT1023913	hsa-miR-4448	CLIP-seq
MIRT1023925	hsa-miR-4763-3p	CLIP-seq
MIRT1023892	hsa-miR-3194-5p	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	TAS	2902634
GO:0005515	Function	Protein binding	IPI	16498633, 17500595, 26900580, 28219978, 28514442, 29924966, 31324722, 32814053, 35156780, 36012204
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005829	Component	Cytosol	TAS
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005886	Component	Plasma membrane	IDA	28219978
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	7649993
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030159	Function	Signaling receptor complex adaptor activity	IBA
GO:0031982	Component	Vesicle	HDA	19190083
GO:0044877	Function	Protein-containing complex binding	IDA	23209302
GO:0045202	Component	Synapse	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16498633
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051020	Function	GTPase binding	IPI	19255495
GO:0070062	Component	Extracellular exosome	HDA	19199708, 20458337, 23533145
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IMP	28219978

MIM	HGNC	e!Ensembl
139390	4398	ENSG00000172354

P62879

Protein name

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 (G protein subunit beta-2) (Transducin beta chain 2)

Protein function

Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G prote

PDB

9AVL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	45 → 83	WD domain, G-beta repeat	Repeat
PF00400	WD40	86 → 125	WD domain, G-beta repeat	Repeat
PF00400	WD40	133 → 170	WD domain, G-beta repeat	Repeat
PF00400	WD40	174 → 212	WD domain, G-beta repeat	Repeat
PF00400	WD40	216 → 254	WD domain, G-beta repeat	Repeat
PF00400	WD40	259 → 298	WD domain, G-beta repeat	Repeat
PF00400	WD40	302 → 340	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in all cardiac subcompartments and in the brain, with highest levels in the atrioventricular node and brain. {ECO:0000269|PubMed:28219978}.

Sequence

MSELEQLRQEAEQLRNQIRDARKACGDSTLTQITAGLDPVGRIQMRTRRTLRGHLAKIYA
MHWGTDSRLLVSASQDGKLIIWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNI
CSIYSLKTREGNVRVSRELPGHTGYLSCCRFLDDNQIITSSGDTTCALWDIETGQQTVGF
AGHSGDVMSLSLAPDGRTFVSGACDASIKLWDVRDSMCRQTFIGHESDINAVAFFPNGYA
FTTGSDDATCRLFDLRADQELLMYSHDNIICGITSVAFSRSGRLLLAGYDDFNCNIWDAM
KGDRAGVLAGHDNRVSCLGVTDDGMAVATGSWDSFLKIWN

Sequence length

340

Interactions

View interactions

	KEGG		Reactome
	Ras signaling pathway Chemokine signaling pathway Hormone signaling PI3K-Akt signaling pathway Apelin signaling pathway Circadian entrainment Retrograde endocannabinoid signaling Glutamatergic synapse Cholinergic synapse Serotonergic synapse GABAergic synapse Dopaminergic synapse Relaxin signaling pathway Morphine addiction Alcoholism Human cytomegalovirus infection Kaposi sarcoma-associated herpesvirus infection Human immunodeficiency virus 1 infection Pathways in cancer		Activation of G protein gated Potassium channels Glucagon signaling in metabolic regulation G-protein activation Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ADP signalling through P2Y purinoceptor 12 G beta:gamma signalling through PI3Kgamma Prostacyclin signalling through prostacyclin receptor Adrenaline,noradrenaline inhibits insulin secretion Ca2+ pathway G alpha (q) signalling events G alpha (12/13) signalling events G beta:gamma signalling through PLC beta G alpha (s) signalling events ADP signalling through P2Y purinoceptor 1 G alpha (i) signalling events G alpha (z) signalling events Glucagon-type ligand receptors Thromboxane signalling through TP receptor Vasopressin regulates renal water homeostasis via Aquaporins Thrombin signalling through proteinase activated receptors (PARs) Presynaptic function of Kainate receptors Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding G beta:gamma signalling through BTK G beta:gamma signalling through CDC42 Extra-nuclear estrogen signaling ADORA2B mediated anti-inflammatory cytokines production Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Global developmental delay	Likely pathogenic	rs1804373189	RCV001312202	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GNB2-related disorder	Pathogenic	rs1804373189	RCV001255618	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia and dysmorphic facies	Likely pathogenic; Pathogenic	rs1804373189, rs1424516740, rs2131350514, rs2131350517, rs2486197750, rs147810006	RCV001586121 RCV001582411 RCV001582412 RCV001582413 RCV003127321 RCV003890765 RCV001586093 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sick sinus syndrome 4	Pathogenic	rs948934468	RCV001543707	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL SICK SINUS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrioventricular Block	Atrioventricular block	BEFREE	31698099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33029194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	31698099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	31698611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	24603425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31698099		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30209403		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30209403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31579071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25485910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31698611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31579071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	31698099		★★★★★ ★☆☆☆☆ Found in Text Mining only

GNB2 (G protein subunit beta 2)