Details for: GNB2

Gene ID: 2783

Symbol: GNB2

Ensembl ID: ENSG00000172354

Description: G protein subunit beta 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 3.5
    Marker Score: 7377.5
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.22
    Marker Score: 180343
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.73
    Marker Score: 3299
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.55
    Marker Score: 19910
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.49
    Marker Score: 21479.5
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 2.48
    Marker Score: 2782
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.46
    Marker Score: 18293
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.44
    Marker Score: 7666
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.38
    Marker Score: 10257.5
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.37
    Marker Score: 15402
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 2.29
    Marker Score: 2008
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.28
    Marker Score: 58374
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 2.28
    Marker Score: 30062.5
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.27
    Marker Score: 78578
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 2.27
    Marker Score: 4418
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 2.26
    Marker Score: 2581
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.23
    Marker Score: 1754
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 2.19
    Marker Score: 1277
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.19
    Marker Score: 8436.5
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.18
    Marker Score: 5936
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 2.17
    Marker Score: 1287
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.14
    Marker Score: 18626
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 2.14
    Marker Score: 5329.5
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 2.14
    Marker Score: 21177
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 2.13
    Marker Score: 3080
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 2.13
    Marker Score: 2003
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.09
    Marker Score: 21023
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 2.09
    Marker Score: 901.5
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 2.06
    Marker Score: 3282
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 2.06
    Marker Score: 5238
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 2.06
    Marker Score: 3028
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.05
    Marker Score: 2055
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 2.05
    Marker Score: 970
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 2.03
    Marker Score: 12979
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 2.02
    Marker Score: 842
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 2.01
    Marker Score: 1339
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 2.01
    Marker Score: 676
  • Cell Name: Unknown (CL0000548)
    Fold Change: 2.01
    Marker Score: 1463
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2
    Marker Score: 22529
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2
    Marker Score: 2941
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.99
    Marker Score: 4534
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 1.99
    Marker Score: 2140
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 1.98
    Marker Score: 1859
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 1.96
    Marker Score: 8392
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.96
    Marker Score: 729
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.96
    Marker Score: 11600
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.95
    Marker Score: 1224
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.92
    Marker Score: 19506
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.92
    Marker Score: 4645
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.92
    Marker Score: 1950
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.9
    Marker Score: 4482
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 1.9
    Marker Score: 6004
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.9
    Marker Score: 3055
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.9
    Marker Score: 1044
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.9
    Marker Score: 7448
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.89
    Marker Score: 16631.5
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.89
    Marker Score: 1042.5
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.88
    Marker Score: 971
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.88
    Marker Score: 1765
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.88
    Marker Score: 3075
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.87
    Marker Score: 4579.5
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.87
    Marker Score: 11387
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.87
    Marker Score: 3516
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.86
    Marker Score: 3716
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 1.86
    Marker Score: 4532
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.85
    Marker Score: 1968
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.85
    Marker Score: 1259
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.85
    Marker Score: 441
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.83
    Marker Score: 944
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.83
    Marker Score: 3246
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.83
    Marker Score: 5422.5
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.83
    Marker Score: 1968
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.82
    Marker Score: 8735
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.82
    Marker Score: 409
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.81
    Marker Score: 1739
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.8
    Marker Score: 4830.5
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.79
    Marker Score: 1918
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.78
    Marker Score: 1598
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.77
    Marker Score: 4581
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.76
    Marker Score: 609
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.75
    Marker Score: 2906
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 1.75
    Marker Score: 907
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.74
    Marker Score: 1456
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.74
    Marker Score: 503
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.74
    Marker Score: 1479
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.74
    Marker Score: 2940
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.73
    Marker Score: 1176
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 1.73
    Marker Score: 4857
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.73
    Marker Score: 3282
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.73
    Marker Score: 11037
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 1.72
    Marker Score: 1866.5
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 1.72
    Marker Score: 2118
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.72
    Marker Score: 913
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 1.72
    Marker Score: 5007
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.71
    Marker Score: 4072
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.7
    Marker Score: 421
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.7
    Marker Score: 1736
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.7
    Marker Score: 1045
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 1.7
    Marker Score: 482
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.7
    Marker Score: 1766

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Other Information

**Key characteristics:** - GNB2 is a type of G protein that is involved in a variety of cellular processes, including water transport, cell signaling, and blood clotting. - It is a transmembrane protein that is composed of two subunits, a G protein-coupled receptor (GPRC) and a guanine nucleotide-binding protein (GNB). - The GNB2 subunit is responsible for the second binding event of the G protein, which is required for the activation of the GPRC. - GNB2 is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. **Pathways and functions:** - GNB2 is involved in the regulation of water transport in cells. - It is expressed in the plasma membrane of blood vessels, where it is responsible for regulating water flow into and out of cells. - GNB2 is also involved in the regulation of cell signaling. It is a key regulator of the MAPK signaling pathway, which is involved in cell growth, differentiation, and apoptosis. - GNB2 is also involved in the regulation of blood clotting. It is a key regulator of the coagulation cascade, which is responsible for the conversion of fibrinogen into fibrin, which is a protein that is responsible for blood clotting. **Clinical significance:** GNB2 mutations can lead to a variety of diseases, including hemophilia A, which is caused by a deficiency of GNB2. Hemophilia A is a genetic disorder that is caused by a mutation in the GNB2 gene. People with hemophilia A have a severe decrease in their ability to produce GNB2 protein, which leads to a decrease in the amount of GNB2 in the blood. This results in a decrease in water transport and cell signaling, which can lead to a variety of symptoms, including bleeding disorders, joint pain, and muscle weakness.

Genular Protein ID: 3988152366

Symbol: GBB2_HUMAN

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

UniProtKB Accession Codes:

Database IDs:

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. For the full schema, download it here.