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)

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

  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 7.1194
    Cell Significance Index: 155.8900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 5.1144
    Cell Significance Index: 1834.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 4.9061
    Cell Significance Index: 329.8900
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 4.2195
    Cell Significance Index: 54.7200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 4.1775
    Cell Significance Index: 184.7800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 4.0639
    Cell Significance Index: 153.8900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 3.8722
    Cell Significance Index: 110.5000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 3.0154
    Cell Significance Index: 604.8800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 2.3184
    Cell Significance Index: 142.5000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.0350
    Cell Significance Index: 1407.4700
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.9198
    Cell Significance Index: 25.6100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 1.3240
    Cell Significance Index: 22.6900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.1467
    Cell Significance Index: 27.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0658
    Cell Significance Index: 202.8400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8422
    Cell Significance Index: 83.3200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5039
    Cell Significance Index: 455.0200
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 0.4830
    Cell Significance Index: 3.9000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4571
    Cell Significance Index: 28.8100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4161
    Cell Significance Index: 67.6800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3685
    Cell Significance Index: 19.3500
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.3544
    Cell Significance Index: 3.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.3217
    Cell Significance Index: 33.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2598
    Cell Significance Index: 489.1000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1950
    Cell Significance Index: 21.2100
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0610
    Cell Significance Index: 0.5800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0497
    Cell Significance Index: 2.2600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0347
    Cell Significance Index: 15.7700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.0264
    Cell Significance Index: 0.5300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.0174
    Cell Significance Index: 0.1900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.0047
    Cell Significance Index: 0.1000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0248
    Cell Significance Index: -0.8700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0263
    Cell Significance Index: -48.4800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0284
    Cell Significance Index: -0.7100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0309
    Cell Significance Index: -47.5400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0360
    Cell Significance Index: -48.9800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0621
    Cell Significance Index: -39.4400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0648
    Cell Significance Index: -47.5200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0716
    Cell Significance Index: -53.0600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0736
    Cell Significance Index: -55.6900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0890
    Cell Significance Index: -55.5700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0913
    Cell Significance Index: -49.8400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0915
    Cell Significance Index: -51.6300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0978
    Cell Significance Index: -1.4000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1108
    Cell Significance Index: -2.1900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1197
    Cell Significance Index: -3.4500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1202
    Cell Significance Index: -1.8600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1276
    Cell Significance Index: -36.7000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1318
    Cell Significance Index: -7.9100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1399
    Cell Significance Index: -4.5800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1529
    Cell Significance Index: -22.2200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1583
    Cell Significance Index: -3.4200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1731
    Cell Significance Index: -3.5900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1787
    Cell Significance Index: -5.6900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1925
    Cell Significance Index: -4.1700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1956
    Cell Significance Index: -5.4700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.2050
    Cell Significance Index: -36.9600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2230
    Cell Significance Index: -15.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.2269
    Cell Significance Index: -45.0400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2456
    Cell Significance Index: -51.7300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.2536
    Cell Significance Index: -3.2000
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.2556
    Cell Significance Index: -2.1100
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.2684
    Cell Significance Index: -3.2100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.3014
    Cell Significance Index: -51.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.3065
    Cell Significance Index: -37.6900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.3562
    Cell Significance Index: -48.9200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3778
    Cell Significance Index: -48.8100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3915
    Cell Significance Index: -5.9000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.4218
    Cell Significance Index: -5.2600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4252
    Cell Significance Index: -4.9600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.4344
    Cell Significance Index: -50.6200
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: -0.4407
    Cell Significance Index: -3.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4419
    Cell Significance Index: -50.6300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.4425
    Cell Significance Index: -52.1800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.4473
    Cell Significance Index: -4.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.4532
    Cell Significance Index: -58.1000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.4582
    Cell Significance Index: -11.4300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.5179
    Cell Significance Index: -52.9000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.5318
    Cell Significance Index: -11.1000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5412
    Cell Significance Index: -33.1800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.5859
    Cell Significance Index: -44.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6152
    Cell Significance Index: -48.7300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6376
    Cell Significance Index: -20.4200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6397
    Cell Significance Index: -22.4100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.6567
    Cell Significance Index: -48.9400
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.6808
    Cell Significance Index: -13.4000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.7028
    Cell Significance Index: -8.8700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.7127
    Cell Significance Index: -15.2400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.7393
    Cell Significance Index: -38.5100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.7463
    Cell Significance Index: -41.8800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.8449
    Cell Significance Index: -18.0000
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.8964
    Cell Significance Index: -7.0300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.9267
    Cell Significance Index: -48.1400
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.9368
    Cell Significance Index: -18.6800
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.9415
    Cell Significance Index: -12.5500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.9534
    Cell Significance Index: -6.4600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.9631
    Cell Significance Index: -11.9500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -1.0219
    Cell Significance Index: -48.0300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -1.0576
    Cell Significance Index: -49.3100
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -1.2062
    Cell Significance Index: -12.1500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.2411
    Cell Significance Index: -45.5600

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** 1. **Transmembrane Protein**: GABRB2 is a transmembrane protein that spans the plasma membrane, interacting with other subunits to form functional GABA-A receptors. 2. **Inhibitory Neurotransmission**: GABRB2 plays a critical role in regulating inhibitory neurotransmission, which is essential for maintaining neuronal excitability and preventing excessive neuronal firing. 3. **GABA-A Receptor Complex**: GABRB2 is a component of the GABA-A receptor complex, which assembles with other subunits to form functional receptors. 4. **Widespread Expression**: GABRB2 is expressed in various brain regions, including the cerebral cortex, hippocampus, and cerebellum. 5. **Cell Type-Specific Expression**: GABRB2 is significantly expressed in Purkinje cells, macroglial cells, and different types of cortical interneurons. **Pathways and Functions** 1. **GABA Signaling Pathway**: GABRB2 is involved in the GABA signaling pathway, which regulates inhibitory neurotransmission and neuronal excitability. 2. **Inhibitory Synapse Assembly**: GABRB2 plays a role in the assembly of inhibitory synapses, which are essential for regulating neuronal communication. 3. **Regulation of Membrane Potential**: GABRB2 regulates the membrane potential of neurons by modulating the activity of chloride channels. 4. **Signaling by Receptor Tyrosine Kinases**: GABRB2 interacts with receptor tyrosine kinases to regulate signaling pathways involved in neuronal development and plasticity. 5. **Transmembrane Transport**: GABRB2 is involved in transmembrane transport, regulating the movement of ions across the plasma membrane. **Clinical Significance** 1. **Neurological Disorders**: Alterations in GABRB2 expression have been implicated in various neurological disorders, including epilepsy, anxiety disorders, and schizophrenia. 2. **Neurodevelopmental Disorders**: GABRB2 has been linked to neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. 3. **Neuropsychiatric Disorders**: GABRB2 has been implicated in neuropsychiatric disorders, including bipolar disorder and major depressive disorder. 4. **Neuroprotection**: GABRB2 has been shown to have neuroprotective effects, regulating neuronal excitability and preventing excitotoxicity. 5. **Therapeutic Potential**: Targeting GABRB2 has potential therapeutic implications for the treatment of neurological and neuropsychiatric disorders. In conclusion, GABRB2 is a critical gene involved in regulating inhibitory neurotransmission and neuronal excitability. Its widespread expression and cell-type-specific expression patterns make it an attractive target for therapeutic interventions in various neurological and neuropsychiatric disorders.

Genular Protein ID: 15910844

Symbol: GBRB2_HUMAN

Name: GABA(A) 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 ChEBI 6 ChEMBL 1 ChiTaRS 1 ComplexPortal 9 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 79 DrugCentral 1 EMBL 11 EMDB 17 Ensembl 6 ExpressionAtlas 1 GO 26 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 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 17 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 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 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. 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.