Details for: GABRB2

Gene ID: 2561

Symbol: GABRB2

Ensembl ID: ENSG00000145864

Description: gamma-aminobutyric acid type A receptor subunit beta2

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: Purkinje cell (CL0000121)
    Fold Change: 4.8
    Marker Score: 162066
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 4.18
    Marker Score: 9617
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.84
    Marker Score: 21758
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.84
    Marker Score: 42407
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.68
    Marker Score: 101876
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.6
    Marker Score: 10772
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.56
    Marker Score: 7291
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.52
    Marker Score: 50142
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.44
    Marker Score: 90152
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.39
    Marker Score: 4014
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.36
    Marker Score: 9106
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.18
    Marker Score: 20529
  • Cell Name: granule cell (CL0000120)
    Fold Change: 2.16
    Marker Score: 16268
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.07
    Marker Score: 127571
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 2.07
    Marker Score: 8641
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.03
    Marker Score: 641
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.95
    Marker Score: 7938
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.93
    Marker Score: 18307
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.88
    Marker Score: 16111
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.65
    Marker Score: 2548
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.65
    Marker Score: 3126
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.62
    Marker Score: 680
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.6
    Marker Score: 7399
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.51
    Marker Score: 6303.5
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168451.5
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.39
    Marker Score: 14333
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 868
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.31
    Marker Score: 358
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.27
    Marker Score: 2584
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.12
    Marker Score: 1293
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.1
    Marker Score: 2585
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.08
    Marker Score: 1341
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.05
    Marker Score: 2299
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 795
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251788
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.01
    Marker Score: 607
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71808
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48034
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • 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: 461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5335
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.91
    Marker Score: 1595
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.89
    Marker Score: 2982
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5287
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.86
    Marker Score: 3612
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.83
    Marker Score: 784.5
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.83
    Marker Score: 999
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.81
    Marker Score: 247
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.79
    Marker Score: 16938
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1261
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.77
    Marker Score: 462
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.77
    Marker Score: 12014
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.76
    Marker Score: 469.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.75
    Marker Score: 499
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 671
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.7
    Marker Score: 860
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.69
    Marker Score: 987
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.68
    Marker Score: 971
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.65
    Marker Score: 2408
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.65
    Marker Score: 3471
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.63
    Marker Score: 288
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.63
    Marker Score: 6384
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.62
    Marker Score: 279
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.6
    Marker Score: 218
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.6
    Marker Score: 192
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.59
    Marker Score: 283
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.59
    Marker Score: 387.5
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.57
    Marker Score: 362
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 231
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.55
    Marker Score: 1119
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.55
    Marker Score: 307
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.5
    Marker Score: 161
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.49
    Marker Score: 127
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.46
    Marker Score: 130
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.45
    Marker Score: 141
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.44
    Marker Score: 117
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.44
    Marker Score: 156
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.43
    Marker Score: 1532
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.43
    Marker Score: 165
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.41
    Marker Score: 196
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.4
    Marker Score: 390
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.4
    Marker Score: 734
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.39
    Marker Score: 282
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.39
    Marker Score: 202
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.37
    Marker Score: 180
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 371
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.37
    Marker Score: 181
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.36
    Marker Score: 109
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.36
    Marker Score: 1900
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.36
    Marker Score: 126
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.35
    Marker Score: 205
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.35
    Marker Score: 238

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Other Information

**Key characteristics:** * The GABRB2 gene is located on chromosome 15q21.1. * It is a type I transmembrane protein with a molecular weight of approximately 140 kDa. * It is a member of the GABA receptor family of proteins. * It is expressed in high levels in the cerebral cortex, particularly in projection neurons. **Pathways and functions:** * The GABRB2 gene is involved in the regulation of the GABA signaling pathway. * The pathway is a complex network of interactions between GABA receptors, ion channels, and other signaling molecules. * The GABRB2 receptor is a ligand for the GABAA receptor, which is a GABA-gated chloride channel. * When the GABRB2 receptor binds to GABA, it activates the GABAA receptor and opens the channel. * This allows chloride ions to flow into the cell, which depolarizes the membrane and inhibits the action potential generation. * The GABRB2 receptor is also a ligand for erbb4, a receptor for epidermal growth factor-like proteins. * Activation of the GABRB2 receptor by erbb4 signaling can inhibit the action of the GABAA receptor, leading to an increase in GABA signaling. * This is thought to be a mechanism for regulating the activity of interneurons, which are the cells that connect neurons in the brain. **Clinical significance:** Mutations in the GABRB2 gene have been linked to a number of neurological and psychiatric disorders, including epilepsy, schizophrenia, and autism. These mutations can lead to changes in GABA signaling, which can disrupt normal brain function and lead to the symptoms of these disorders. **Additional information:** * The GABRB2 gene has been extensively studied as a model system for understanding the role of GABA signaling in brain function. * It is a well-characterized gene, and there are a number of drugs that target it for the treatment of epilepsy and other neurological disorders.

Genular Protein ID: 15910844

Symbol: GBRB2_HUMAN

Name: Gamma-aminobutyric acid receptor subunit beta-2

UniProtKB Accession Codes:

P47870 A8K115 A8K1A0 D1LYT0 D1LYT1 Q16323 Q4FZB2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 3 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 78 DrugCentral 1 EMBL 11 EMDB 17 Ensembl 6 ExpressionAtlas 1 GO 23 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 21 PDBsum 17 PIR 1 PRINTS 3 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 2 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8264558

Title: Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors.

PubMed ID: 8264558

PubMed ID: 7707873

Title: Cloning, sequence analysis and expression of two forms of mRNA coding for the human beta 2 subunit of the GABAA receptor.

PubMed ID: 7707873

DOI: 10.1016/0169-328x(94)00228-7

PubMed ID: 19763268

Title: Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene: relationships between novel isoforms and psychotic disorders.

PubMed ID: 19763268

DOI: 10.1371/journal.pone.0006977

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 16983389

Title: Two isoforms of GABA(A) receptor beta2 subunit with different electrophysiological properties: Differential expression and genotypical correlations in schizophrenia.

PubMed ID: 16983389

DOI: 10.1038/sj.mp.4001899

PubMed ID: 23909897

Title: GABA(A) receptors can initiate the formation of functional inhibitory GABAergic synapses.

PubMed ID: 23909897

DOI: 10.1111/ejn.12331

PubMed ID: 25489750

Title: Inhibitory synapse formation in a co-culture model incorporating GABAergic medium spiny neurons and HEK293 cells stably expressing GABAA receptors.

PubMed ID: 25489750

DOI: 10.3791/52115

PubMed ID: 29950725

Title: Structure of a human synaptic GABAA receptor.

PubMed ID: 29950725

DOI: 10.1038/s41586-018-0255-3

PubMed ID: 25124326

Title: A novel variant in GABRB2 associated with intellectual disability and epilepsy.

PubMed ID: 25124326

DOI: 10.1002/ajmg.a.36714

PubMed ID: 29100083

Title: High rate of recurrent de novo mutations in developmental and epileptic encephalopathies.

PubMed ID: 29100083

DOI: 10.1016/j.ajhg.2017.09.008

PubMed ID: 27789573

Title: A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

PubMed ID: 27789573

DOI: 10.1136/jmedgenet-2016-104083

Sequence Information:

  • Length: 512
  • Mass: 59150
  • Checksum: C390A0C92815DD89
  • Sequence:
    • MWRVRKRGYF GIWSFPLIIA AVCAQSVNDP SNMSLVKETV DRLLKGYDIR LRPDFGGPPV 
AVGMNIDIAS IDMVSEVNMD YTLTMYFQQA WRDKRLSYNV IPLNLTLDNR VADQLWVPDT 
YFLNDKKSFV HGVTVKNRMI RLHPDGTVLY GLRITTTAAC MMDLRRYPLD EQNCTLEIES 
YGYTTDDIEF YWRGDDNAVT GVTKIELPQF SIVDYKLITK KVVFSTGSYP RLSLSFKLKR 
NIGYFILQTY MPSILITILS WVSFWINYDA SAARVALGIT TVLTMTTINT HLRETLPKIP 
YVKAIDMYLM GCFVFVFMAL LEYALVNYIF FGRGPQRQKK AAEKAASANN EKMRLDVNKI 
FYKDIKQNGT QYRSLWDPTG NLSPTRRTTN YDFSLYTMDP HENILLSTLE IKNEMATSEA 
VMGLGDPRST MLAYDASSIQ YRKAGLPRHS FGRNALERHV AQKKSRLRRR ASQLKITIPD 
LTDVNAIDRW SRIFFPVVFS FFNIVYWLYY VN

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.