GNB2
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2
Also known as: GBB2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P62879
- Gene
- GNB2
- Ensembl
- ENSG00000172354
- Chromosome
- 7
- Canonical length
- 340 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, RAS pathway related proteins, Transporters
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
340 residues, UniProt reviewed canonical sequence.
>P62879|GNB2
1 MSELEQLRQE AEQLRNQIRD ARKACGDSTL TQITAGLDPV GRIQMRTRRT LRGHLAKIYA
61 MHWGTDSRLL VSASQDGKLI IWDSYTTNKV HAIPLRSSWV MTCAYAPSGN FVACGGLDNI
121 CSIYSLKTRE GNVRVSRELP GHTGYLSCCR FLDDNQIITS SGDTTCALWD IETGQQTVGF
181 AGHSGDVMSL SLAPDGRTFV SGACDASIKL WDVRDSMCRQ TFIGHESDIN AVAFFPNGYA
241 FTTGSDDATC RLFDLRADQE LLMYSHDNII CGITSVAFSR SGRLLLAGYD DFNCNIWDAM
301 KGDRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLKIWNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GNB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.24
- Highest tissue expression
- 318 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 318 nTPM
- skin: 285 nTPM
- spleen: 218 nTPM
- vagina: 210 nTPM
- blood vessel: 208 nTPM
- adrenal gland: 205 nTPM
Single-cell type
- esophageal apical cells: 1,494 nCPM
- esophageal suprabasal cells: 574 nCPM
- neutrophils: 574 nCPM
- extravillous trophoblasts: 393 nCPM
- esophageal basal cells: 351 nCPM
- syncytiotrophoblasts: 333 nCPM
Immune cell
- neutrophil: 118 nTPM
- eosinophil: 72 nTPM
- intermediate monocyte: 43 nTPM
- non-classical monocyte: 36 nTPM
- classical monocyte: 29 nTPM
- myeloid DC: 28 nTPM
Brain region
- medulla oblongata: 178 nTPM
- hypothalamus: 172 nTPM
- basal ganglia: 168 nTPM
- thalamus: 167 nTPM
- midbrain: 158 nTPM
- amygdala: 157 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GNB2.
Disease | AllUniProt
Conditions GNB2 is implicated in, by any mechanism.
- Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) MIM:619503
- Sick sinus syndrome 4 (SSS4) MIM:619464
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 109 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with hypotonia and dysmorphic facies
- GNB2-related disorder
- Global developmental delay
- Sick sinus syndrome 4
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.27
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 3.21
- DepMap mean gene effect
- -0.2
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- GTPase activity
- GTPase binding
- protein-containing complex binding
- signaling receptor complex adaptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GNB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GNB2 as an antibody target. Whether an autoantibody or antibody against GNB2 could matter depends on whether native GNB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GNB2 is annotated at the cell surface, where native GNB2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GNB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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