Details for: GNB3

Gene ID: 2784

Symbol: GNB3

Ensembl ID: ENSG00000111664

Description: G protein subunit beta 3

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: retinal rod cell (CL0000604)
    Fold Change: 2.61
    Marker Score: 7449
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 2.2
    Marker Score: 1514
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 2.12
    Marker Score: 1108
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.08
    Marker Score: 621
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1170
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.46
    Marker Score: 1460
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 1.17
    Marker Score: 455
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4817
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.12
    Marker Score: 7449
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.05
    Marker Score: 13904
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.04
    Marker Score: 705
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.01
    Marker Score: 417
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71829
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48054
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5342
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.93
    Marker Score: 427.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.83
    Marker Score: 632
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 696
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.72
    Marker Score: 1115
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.71
    Marker Score: 11163
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.68
    Marker Score: 449.5
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.66
    Marker Score: 1886
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.65
    Marker Score: 272
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.64
    Marker Score: 1877
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.62
    Marker Score: 395
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 480
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.56
    Marker Score: 2311
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.54
    Marker Score: 5169
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.54
    Marker Score: 20025
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.53
    Marker Score: 5030
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.53
    Marker Score: 32751
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.53
    Marker Score: 145
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.49
    Marker Score: 679
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.49
    Marker Score: 155
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.48
    Marker Score: 4154
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.48
    Marker Score: 195
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.44
    Marker Score: 16710
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.44
    Marker Score: 1686
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.42
    Marker Score: 406
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.42
    Marker Score: 6270
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.41
    Marker Score: 234
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.4
    Marker Score: 7898
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.38
    Marker Score: 781
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.37
    Marker Score: 860
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.37
    Marker Score: 2237
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.36
    Marker Score: 152
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.36
    Marker Score: 2774
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.35
    Marker Score: 441
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.35
    Marker Score: 204
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.34
    Marker Score: 1221
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.34
    Marker Score: 1393
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.34
    Marker Score: 181
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.33
    Marker Score: 319
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.32
    Marker Score: 192
  • Cell Name: S cone cell (CL0003050)
    Fold Change: 0.32
    Marker Score: 96
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.31
    Marker Score: 2752
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.3
    Marker Score: 620
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.29
    Marker Score: 86
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.29
    Marker Score: 270.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.28
    Marker Score: 538
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.28
    Marker Score: 129
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.28
    Marker Score: 1283
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.27
    Marker Score: 325
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.27
    Marker Score: 110
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.26
    Marker Score: 172
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.26
    Marker Score: 288
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.25
    Marker Score: 243
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.25
    Marker Score: 5505
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.24
    Marker Score: 137
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.24
    Marker Score: 408
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.24
    Marker Score: 219
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.21
    Marker Score: 206
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.21
    Marker Score: 124
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.21
    Marker Score: 79
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.19
    Marker Score: 812.5
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.19
    Marker Score: 568
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.19
    Marker Score: 1611
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.19
    Marker Score: 110
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.19
    Marker Score: 104
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.18
    Marker Score: 62
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.18
    Marker Score: 47
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.18
    Marker Score: 112
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 41
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.16
    Marker Score: 107.5
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.16
    Marker Score: 76
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.15
    Marker Score: 3291
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.15
    Marker Score: 61

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Other Information

**Key characteristics:** - GNB3 is a transmembrane protein that is composed of three immunoglobulin heavy chains and three immunoglobulin light chains. - It is a member of the G protein-coupled receptor (GPCR) family of cell surface receptors. - It is expressed in high levels in the retina, where it is involved in the transport of water across the blood-aqueous barrier. - It is also expressed in other tissues, where it is involved in a variety of cellular processes, including cell signaling, proliferation, and differentiation. **Pathways and functions:** - GNB3 is a key regulator of the water balance of the body. It is expressed in the retinal rod cell, where it is involved in maintaining the water content of the cell. - It is also expressed in the colon goblet cell, where it is involved in regulating water and electrolyte balance in the gut. - It is expressed in the enterocytes of the small intestine, where it is involved in the absorption of nutrients from food. - It is also expressed in the cardiac muscle cell, where it is involved in the regulation of cardiac contractility. **Clinical significance:** - Mutations in GNB3 have been linked to a number of human diseases, including retinal dystrophy, glaucoma, and nephropathy. - These diseases are characterized by the accumulation of fluid in the body, which can damage the eyes and kidneys. - GNB3 is a promising target for the treatment of these diseases.

Genular Protein ID: 2432106580

Symbol: GBB3_HUMAN

Name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3

UniProtKB Accession Codes:

P16520 Q96B71 Q9BQC0

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 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 18 Ensembl 1 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 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 1 RNAct 1 Reactome 30 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2107550

Title: Molecular cloning of beta 3 subunit, a third form of the G protein beta-subunit polypeptide.

PubMed ID: 2107550

DOI: 10.1073/pnas.87.6.2329

PubMed ID: 8723724

Title: A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13.

PubMed ID: 8723724

DOI: 10.1101/gr.6.4.314

PubMed ID: 9074930

Title: Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination.

PubMed ID: 9074930

DOI: 10.1101/gr.7.3.268

PubMed ID: 10904009

Title: G protein beta 3 gene: structure, promoter, and additional polymorphisms.

PubMed ID: 10904009

DOI: 10.1161/01.hyp.36.1.33

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: 19255495

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

PubMed ID: 19255495

DOI: 10.1159/000204075

PubMed ID: 27063057

Title: Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness.

PubMed ID: 27063057

DOI: 10.1016/j.ajhg.2016.03.021

Sequence Information:

  • Length: 340
  • Mass: 37221
  • Checksum: 896E706A61B8D74F
  • Sequence:
    • MGEMEQLRQE AEQLKKQIAD ARKACADVTL AELVSGLEVV GRVQMRTRRT LRGHLAKIYA 
MHWATDSKLL VSASQDGKLI VWDSYTTNKV HAIPLRSSWV MTCAYAPSGN FVACGGLDNM 
CSIYNLKSRE GNVKVSRELS AHTGYLSCCR FLDDNNIVTS SGDTTCALWD IETGQQKTVF 
VGHTGDCMSL AVSPDFNLFI SGACDASAKL WDVREGTCRQ TFTGHESDIN AICFFPNGEA 
ICTGSDDASC RLFDLRADQE LICFSHESII CGITSVAFSL SGRLLFAGYD DFNCNVWDSM 
KSERVGILSG HDNRVSCLGV TADGMAVATG SWDSFLKIWN

Genular Protein ID: 553973040

Symbol: E9PCP0_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PCP0

Database IDs:

ARBA 4 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 1 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 IntAct 1 InterPro 6 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRINTS 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMART 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 339
  • Mass: 37118
  • Checksum: 7BFB9FDDF834080C
  • Sequence:
    • MGEMEQLRQE AEQLKKQIAD ARKACADVTL AELVSGLEVV GRVQMRTRRT LRGHLAKIYA 
MHWATDSKLL VSASQDGKLI VWDSYTTNKV HAIPLRSSWV MTCAYAPSGN FVACGGLDNM 
CSIYNLKSRE GNVKVSRELS AHTGYLSCCR FLDDNNIVTS SGDTTALWDI ETGQQKTVFV 
GHTGDCMSLA VSPDFNLFIS GACDASAKLW DVREGTCRQT FTGHESDINA ICFFPNGEAI 
CTGSDDASCR LFDLRADQEL ICFSHESIIC GITSVAFSLS GRLLFAGYDD FNCNVWDSMK 
SERVGILSGH DNRVSCLGVT ADGMAVATGS WDSFLKIWN

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.