Details for: GNB2

Gene ID: 2783

Symbol: GNB2

Ensembl ID: ENSG00000172354

Description: G protein subunit beta 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 371.2747
    Cell Significance Index: -57.7500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 260.7598
    Cell Significance Index: -66.1400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 159.8987
    Cell Significance Index: -64.9600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 152.7993
    Cell Significance Index: -72.1400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 139.7493
    Cell Significance Index: -71.8900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 107.5225
    Cell Significance Index: -72.1500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 68.6546
    Cell Significance Index: -65.5500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 56.7336
    Cell Significance Index: -69.9500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 18.8625
    Cell Significance Index: -50.5300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 18.4577
    Cell Significance Index: -72.8400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 16.4515
    Cell Significance Index: -50.5300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.7414
    Cell Significance Index: -21.3200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 4.0974
    Cell Significance Index: 75.7300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 2.7949
    Cell Significance Index: 2523.6000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.7509
    Cell Significance Index: 57.5800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 2.4503
    Cell Significance Index: 266.5200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.1699
    Cell Significance Index: 101.1700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.1123
    Cell Significance Index: 290.0800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.7637
    Cell Significance Index: 963.2100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.7419
    Cell Significance Index: 129.8200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.6705
    Cell Significance Index: 87.0200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.5748
    Cell Significance Index: 101.6000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.5684
    Cell Significance Index: 192.8500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.5153
    Cell Significance Index: 273.1700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.4910
    Cell Significance Index: 39.2100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.4902
    Cell Significance Index: 175.7400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.3309
    Cell Significance Index: 17.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1770
    Cell Significance Index: 191.4200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.1237
    Cell Significance Index: 52.8100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.0818
    Cell Significance Index: 478.3100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.0645
    Cell Significance Index: 136.4600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.0145
    Cell Significance Index: 131.0700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.0077
    Cell Significance Index: 15.1000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.9925
    Cell Significance Index: 10.7900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.9725
    Cell Significance Index: 8.9600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.9335
    Cell Significance Index: 32.4400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.8974
    Cell Significance Index: 63.4700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.8621
    Cell Significance Index: 15.2400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8563
    Cell Significance Index: 44.4800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.8417
    Cell Significance Index: 22.9100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.7993
    Cell Significance Index: 9.0800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.7729
    Cell Significance Index: 22.7000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6286
    Cell Significance Index: 18.1100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4787
    Cell Significance Index: 96.0300
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3902
    Cell Significance Index: 9.0100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3156
    Cell Significance Index: 60.0600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3080
    Cell Significance Index: 30.4700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2389
    Cell Significance Index: 16.5200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2101
    Cell Significance Index: 5.6100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2043
    Cell Significance Index: 73.2700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1338
    Cell Significance Index: 26.5500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0931
    Cell Significance Index: 4.8900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0772
    Cell Significance Index: 58.4300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0084
    Cell Significance Index: 0.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0020
    Cell Significance Index: -1.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0218
    Cell Significance Index: -41.1100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0288
    Cell Significance Index: -4.9100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0331
    Cell Significance Index: -3.3800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0425
    Cell Significance Index: -78.4100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0514
    Cell Significance Index: -79.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0530
    Cell Significance Index: -1.4800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0609
    Cell Significance Index: -82.8000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0768
    Cell Significance Index: -56.8700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0827
    Cell Significance Index: -52.5500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1169
    Cell Significance Index: -65.9300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1290
    Cell Significance Index: -58.5300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1347
    Cell Significance Index: -84.1200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2018
    Cell Significance Index: -58.0800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2543
    Cell Significance Index: -8.1500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2814
    Cell Significance Index: -1.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2853
    Cell Significance Index: -32.6900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3254
    Cell Significance Index: -37.9200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3478
    Cell Significance Index: -9.9700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3751
    Cell Significance Index: -79.0100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3819
    Cell Significance Index: -55.5100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.4045
    Cell Significance Index: -14.2200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4057
    Cell Significance Index: -8.6400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4440
    Cell Significance Index: -9.6200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4830
    Cell Significance Index: -6.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.5724
    Cell Significance Index: -25.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.5968
    Cell Significance Index: -36.6800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.6092
    Cell Significance Index: -16.3300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6774
    Cell Significance Index: -53.6500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.6799
    Cell Significance Index: -45.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6857
    Cell Significance Index: -71.4000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6921
    Cell Significance Index: -17.6800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.8616
    Cell Significance Index: -12.0900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.8731
    Cell Significance Index: -67.0000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.0105
    Cell Significance Index: -27.0300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.0575
    Cell Significance Index: -59.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.1791
    Cell Significance Index: -72.2900
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -1.1799
    Cell Significance Index: -2.6600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -1.2220
    Cell Significance Index: -12.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -1.2271
    Cell Significance Index: -77.3400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.3196
    Cell Significance Index: -58.3700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.3505
    Cell Significance Index: -33.7600
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -1.3576
    Cell Significance Index: -8.3600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.4309
    Cell Significance Index: -42.1500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.4508
    Cell Significance Index: -41.4000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.5318
    Cell Significance Index: -56.2300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The GNB2 gene is a single-copy gene that encodes for a 44-kDa protein. It is highly conserved across species, with high sequence identity to other G protein beta subunits. The gene is located on chromosome 1q21-q22 and is transcribed in both the sense and antisense directions. The beta-2 subunit is a G protein alpha-subunit antagonist, meaning it inhibits the activity of the alpha subunit in G protein-coupled receptor (GPCR) signaling pathways. **Pathways and Functions** The GNB2 gene is involved in a wide range of cellular signaling pathways, including: 1. **G protein-coupled receptor signaling**: The beta-2 subunit inhibits the activity of the alpha subunit in GPCR signaling pathways, modulating the response to various ligands, including hormones, neurotransmitters, and drugs. 2. **Potassium ion transport**: The beta-2 subunit regulates the activity of inwardly rectifying potassium channels, influencing potassium ion homeostasis and cellular excitability. 3. **Neurotransmitter signaling**: The beta-2 subunit modulates the activity of kainate receptors, influencing synaptic transmission and neuronal function. 4. **Immune responses**: The beta-2 subunit is involved in the regulation of immune responses, including the production of anti-inflammatory cytokines and the activation of immune cells. 5. **Metabolic regulation**: The beta-2 subunit regulates insulin secretion and glucose metabolism, influencing energy homeostasis. **Clinical Significance** Mutations in the GNB2 gene have been associated with several diseases, including: 1. **Autoimmune disorders**: Mutations in the GNB2 gene have been linked to autoimmune disorders, such as rheumatoid arthritis and lupus. 2. **Cancer**: The beta-2 subunit is overexpressed in certain types of cancer, including breast and lung cancer. 3. **Neuropathy**: Mutations in the GNB2 gene have been associated with neuropathy, a condition characterized by damage to the peripheral nerves. 4. **Insulin resistance**: The beta-2 subunit regulates insulin secretion and glucose metabolism, and mutations in the GNB2 gene have been linked to insulin resistance and type 2 diabetes. In conclusion, the GNB2 gene plays a critical role in various cellular signaling pathways, influencing physiological processes such as insulin secretion, potassium ion transport, neurotransmitter signaling, and immune responses. Mutations in the GNB2 gene have been associated with several diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 3988152366

Symbol: GBB2_HUMAN

Name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2

UniProtKB Accession Codes:

P62879 B3KPU1 P11016 P54312

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 EMDB 1 Ensembl 5 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PIRSF 1 PRIDE 1 PRINTS 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 28 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3108879

Title: Distinct forms of the beta subunit of GTP-binding regulatory proteins identified by molecular cloning.

PubMed ID: 3108879

DOI: 10.1073/pnas.84.11.3792

PubMed ID: 3114742

Title: A second form of the beta subunit of signal-transducing G proteins.

PubMed ID: 3114742

DOI: 10.1073/pnas.84.17.6122

PubMed ID: 9799793

Title: Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.

PubMed ID: 9799793

DOI: 10.1101/gr.8.10.1060

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14512443

Title: G Protein betagamma subunits stimulate p114RhoGEF, a guanine nucleotide exchange factor for RhoA and Rac1: regulation of cell shape and reactive oxygen species production.

PubMed ID: 14512443

DOI: 10.1161/01.res.0000097607.14733.0c

PubMed ID: 16498633

Title: Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit.

PubMed ID: 16498633

DOI: 10.1002/jnr.20807

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19255495

Title: The cationic region of Rhes mediates its interactions with specific Gbeta subunits.

PubMed ID: 19255495

DOI: 10.1159/000204075

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26900580

Title: Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

PubMed ID: 26900580

DOI: 10.1002/acn3.276

PubMed ID: 28219978

Title: A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.

PubMed ID: 28219978

DOI: 10.1161/circresaha.116.310112

PubMed ID: 31698099

Title: Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.

PubMed ID: 31698099

DOI: 10.1016/j.ejmg.2019.103804

PubMed ID: 34183358

Title: Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

PubMed ID: 34183358

DOI: 10.1136/jmedgenet-2020-107462

PubMed ID: 33971351

Title: Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.

PubMed ID: 33971351

DOI: 10.1016/j.ejmg.2021.104243

Sequence Information:

  • Length: 340
  • Mass: 37331
  • Checksum: 5D08FFA240ADEEE6
  • Sequence:
    • MSELEQLRQE AEQLRNQIRD ARKACGDSTL TQITAGLDPV GRIQMRTRRT LRGHLAKIYA 
MHWGTDSRLL VSASQDGKLI IWDSYTTNKV HAIPLRSSWV MTCAYAPSGN FVACGGLDNI 
CSIYSLKTRE GNVRVSRELP GHTGYLSCCR FLDDNQIITS SGDTTCALWD IETGQQTVGF 
AGHSGDVMSL SLAPDGRTFV SGACDASIKL WDVRDSMCRQ TFIGHESDIN AVAFFPNGYA 
FTTGSDDATC RLFDLRADQE LLMYSHDNII CGITSVAFSR SGRLLLAGYD DFNCNIWDAM 
KGDRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLKIWN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.