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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GNB2
G protein subunit beta 2
Chromosome 7 · 7q22.1
NCBI Gene: 2783Ensembl: ENSG00000172354.11HGNC: HGNC:4398UniProt: P62879
186PubMed Papers
22Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
vesicleperinuclear region of cytoplasmprotein bindingplasma membraneneurodevelopmental disorder with hypotonia and dysmorphic faciesfamilial sick sinus syndromedevelopmental disorder of mental healthcomplex neurodevelopmental disorder
✦AI Summary

GNB2 encodes the β2 subunit (Gβ2) of heterotrimeric G-protein complexes that mediate G-protein-coupled receptor signaling pathways 1. The Gβ2 subunit forms complexes with Gγ subunits and is essential for G-protein function, including GTPase activity and effector interactions. In cardiac tissue, GNB2 regulates G-protein-activated potassium channels (GIRK), with mutations leading to sustained channel activation and membrane hyperpolarization 1. GNB2 also participates in cellular signaling through ERK and Wnt pathways, influencing cell proliferation and migration 2. Disease-associated mutations in GNB2 cause multiple phenotypes: heterozygous missense variants (p.Ala73Thr, p.Gly77Arg, p.Lys89Glu, p.Lys89Thr) result in neurodevelopmental disorders with intellectual disability and dysmorphic features 3, while the p.Arg52Leu variant causes familial sinus node dysfunction and atrioventricular block through enhanced GIRK channel activation 1. Somatic GNB2 mutations are implicated in Sturge-Weber syndrome 4, and polymorphic tandem repeat variations in the GNB2 5'UTR influence heart rate 5. These findings establish GNB2 as critical for normal cardiac conduction, neurodevelopment, and cellular signaling, with mutations causing distinct inherited disorders affecting multiple organ systems.

Sources cited
1
GNB2 encodes Gβ2 subunit of G-protein complexes and mutations cause familial sinus node dysfunction through GIRK channel activation
PMID: 28219978
2
De novo missense variants in GNB2 cause neurodevelopmental disorders with intellectual disability and dysmorphic features
PMID: 34183358
3
Somatic GNB2 mutations are implicated in Sturge-Weber syndrome
PMID: 36263782
4
GNB2 participates in ERK and Wnt signaling pathways affecting cell proliferation and migration
PMID: 39225546
5
Polymorphic tandem repeat variations in GNB2 5'UTR influence heart rate
PMID: 39627187
Disease Associationsⓘ22
neurodevelopmental disorder with hypotonia and dysmorphic faciesOpen Targets
0.68Moderate
familial sick sinus syndromeOpen Targets
0.53Moderate
complex neurodevelopmental disorderOpen Targets
0.37Weak
developmental disorder of mental healthOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.27Weak
Sturge-Weber syndromeOpen Targets
0.19Weak
inflammatory bowel diseaseOpen Targets
0.14Weak
schizophreniaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
anemiaOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.04Suggestive
basal cell carcinomaOpen Targets
0.04Suggestive
Brugada syndromeOpen Targets
0.04Suggestive
autoimmune thyroid diseaseOpen Targets
0.04Suggestive
trimethylaminuriaOpen Targets
0.03Suggestive
Takotsubo cardiomyopathyOpen Targets
0.03Suggestive
arrhythmogenic right ventricular dysplasia 10Open Targets
0.03Suggestive
Neurodevelopmental disorder with hypotonia and dysmorphic faciesUniProt
Sick sinus syndrome 4UniProt
Pathogenic Variants12
NM_005273.4(GNB2):c.284T>C (p.Leu95Pro)Likely pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies|Inborn genetic diseases
★★☆☆2025→ Residue 95
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)Pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies|not provided
★★☆☆2025→ Residue 73
NM_005273.4(GNB2):c.229G>A (p.Gly77Arg)Pathogenic
GNB2-related disorder|not provided|Neurodevelopmental disorder with hypotonia and dysmorphic facies
★★☆☆2025→ Residue 77
NM_005273.4(GNB2):c.143G>A (p.Arg48Gln)Likely pathogenic
not provided
★☆☆☆2025→ Residue 48
NM_005273.4(GNB2):c.230G>A (p.Gly77Glu)Pathogenic
not provided
★☆☆☆2024→ Residue 77
NM_005273.4(GNB2):c.803A>T (p.Asn268Ile)Likely pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies
★☆☆☆2024→ Residue 268
NM_005273.4(GNB2):c.357C>A (p.Asn119Lys)Pathogenic
not provided
★☆☆☆2023→ Residue 119
NM_005273.4(GNB2):c.265A>G (p.Lys89Glu)Pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies
★☆☆☆2021→ Residue 89
NM_005273.4(GNB2):c.229G>T (p.Gly77Trp)Likely pathogenic
Global developmental delay|Neurodevelopmental disorder with hypotonia and dysmorphic facies
★☆☆☆2021→ Residue 77
NM_005273.4(GNB2):c.227A>G (p.Asp76Gly)Pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies
★☆☆☆→ Residue 76
NM_005273.4(GNB2):c.266A>C (p.Lys89Thr)Pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies
☆☆☆☆2022→ Residue 89
NM_005273.4(GNB2):c.155G>T (p.Arg52Leu)Pathogenic
Sick sinus syndrome 4
☆☆☆☆2022→ Residue 52
View on ClinVar ↗
Related Genes
KCNJ5Protein interaction100%GNB1Protein interaction99%GNAQProtein interaction97%PLCB1Protein interaction97%PLCB3Protein interaction95%GNG2Protein interaction95%
Tissue Expression6 tissues
Lung
100%
Ovary
66%
Liver
65%
Brain
64%
Bone Marrow
54%
Heart
38%
Gene Interaction Network
Click a node to explore
GNB2KCNJ5GNB1GNAQPLCB1PLCB3GNG2
PROTEIN STRUCTURE
Preparing viewer…
PDB9AVL · 3.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.20 [0.11–0.37]
RankingsWhere GNB2 stands among ~20K protein-coding genes
  • #2,303of 20,598
    Most Researched186 · top quartile
  • #2,654of 5,498
    Most Pathogenic Variants12
  • #1,733of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedGNB2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Updates on Sturge-Weber Syndrome.
PMID: 36263782
Stroke · 2022
1.00
2
ZDHHC11-mediated palmitoylation alleviates chondrocyte senescence and serves as a therapeutic target for osteoarthritis.
PMID: 41028499
Nat Aging · 2025
0.90
3
A detailed multi-omics analysis of GNB2 gene in human cancers.
PMID: 35730811
Braz J Biol · 2022
0.80
4
A Mutation in the G-Protein Gene
PMID: 28219978
Circ Res · 2017
0.70
5
miR-142-3p improves paclitaxel sensitivity in resistant breast cancer by inhibiting autophagy through the GNB2-AKT-mTOR Pathway.
PMID: 36539001
Cell Signal · 2023
0.64