Details for: GABRG2

Gene ID: 2566

Symbol: GABRG2

Ensembl ID: ENSG00000113327

Description: gamma-aminobutyric acid type A receptor subunit gamma2

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: cone retinal bipolar cell (CL0000752)
    Fold Change: 6.6114
    Cell Significance Index: 50.9600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.3517
    Cell Significance Index: 1202.2000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 3.2912
    Cell Significance Index: 221.3000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.9171
    Cell Significance Index: 83.2500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.4754
    Cell Significance Index: 496.5600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.8832
    Cell Significance Index: 41.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.8220
    Cell Significance Index: 80.5900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.6719
    Cell Significance Index: 63.3100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.6506
    Cell Significance Index: 1141.6200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.6210
    Cell Significance Index: 85.1100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.0860
    Cell Significance Index: 13.4700
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.8508
    Cell Significance Index: 11.3500
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.8378
    Cell Significance Index: 7.3800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.7181
    Cell Significance Index: 44.1400
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.6323
    Cell Significance Index: 8.2000
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.5319
    Cell Significance Index: 4.0800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.4695
    Cell Significance Index: 11.2600
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.3877
    Cell Significance Index: 4.7000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2402
    Cell Significance Index: 27.9900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2311
    Cell Significance Index: 3.9600
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0799
    Cell Significance Index: 0.7600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0107
    Cell Significance Index: -7.9400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0168
    Cell Significance Index: -10.4600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0176
    Cell Significance Index: -32.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0181
    Cell Significance Index: -34.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0206
    Cell Significance Index: -11.6300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0216
    Cell Significance Index: -33.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0252
    Cell Significance Index: -34.2200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0393
    Cell Significance Index: -8.2900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0482
    Cell Significance Index: -35.3300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0542
    Cell Significance Index: -34.4200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0565
    Cell Significance Index: -1.1400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0752
    Cell Significance Index: -34.1200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0833
    Cell Significance Index: -14.2200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0880
    Cell Significance Index: -3.8300
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0943
    Cell Significance Index: -1.1000
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0945
    Cell Significance Index: -1.0300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0980
    Cell Significance Index: -2.0800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1015
    Cell Significance Index: -29.2000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.1203
    Cell Significance Index: -19.5700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1453
    Cell Significance Index: -4.0600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.1469
    Cell Significance Index: -27.9500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1761
    Cell Significance Index: -20.1800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1815
    Cell Significance Index: -1.7200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1846
    Cell Significance Index: -5.8800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1895
    Cell Significance Index: -34.1600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1917
    Cell Significance Index: -3.7900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.2093
    Cell Significance Index: -41.5300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2340
    Cell Significance Index: -34.0100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2735
    Cell Significance Index: -5.9100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2825
    Cell Significance Index: -34.7400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2957
    Cell Significance Index: -18.6400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3015
    Cell Significance Index: -9.8700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.3125
    Cell Significance Index: -34.0000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3384
    Cell Significance Index: -38.6300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3528
    Cell Significance Index: -36.7400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4114
    Cell Significance Index: -13.1800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.4157
    Cell Significance Index: -28.7500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.4386
    Cell Significance Index: -3.6200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.4489
    Cell Significance Index: -26.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4703
    Cell Significance Index: -36.0900
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.5003
    Cell Significance Index: -5.5200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5047
    Cell Significance Index: -17.6800
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.5159
    Cell Significance Index: -6.1700
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.5230
    Cell Significance Index: -6.6000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5416
    Cell Significance Index: -13.5100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5529
    Cell Significance Index: -33.9000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.5606
    Cell Significance Index: -11.7000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.5845
    Cell Significance Index: -8.3700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.5963
    Cell Significance Index: -4.0400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.6200
    Cell Significance Index: -34.7900
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.6347
    Cell Significance Index: -7.1700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.6359
    Cell Significance Index: -7.9300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.6486
    Cell Significance Index: -16.1700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6902
    Cell Significance Index: -35.9500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.7532
    Cell Significance Index: -11.3500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.7717
    Cell Significance Index: -36.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.7737
    Cell Significance Index: -40.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.7739
    Cell Significance Index: -35.0800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.7806
    Cell Significance Index: -22.4900
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.8399
    Cell Significance Index: -10.6000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.8560
    Cell Significance Index: -39.9100
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.8615
    Cell Significance Index: -17.1800
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.8897
    Cell Significance Index: -6.1700
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.9471
    Cell Significance Index: -18.6400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.9719
    Cell Significance Index: -20.7800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.9733
    Cell Significance Index: -34.2000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.9974
    Cell Significance Index: -24.9100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -1.0755
    Cell Significance Index: -22.3100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.0978
    Cell Significance Index: -34.7200
  • Cell Name: interneuron (CL0000099)
    Fold Change: -1.1326
    Cell Significance Index: -13.2300
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -1.2086
    Cell Significance Index: -16.1100
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -1.2489
    Cell Significance Index: -13.0100
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -1.2546
    Cell Significance Index: -15.6000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.2782
    Cell Significance Index: -36.6400
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: -1.3134
    Cell Significance Index: -10.6100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.3585
    Cell Significance Index: -36.3400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.3692
    Cell Significance Index: -27.8600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.3778
    Cell Significance Index: -29.8500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.3870
    Cell Significance Index: -29.5400

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. **GABA-A Receptor Subunit Gamma2:** GABRG2 is a subunit of the GABA-A receptor, which is a ligand-gated chloride channel complex that plays a crucial role in regulating neuronal excitability and synaptic transmission. 2. **Significant Expression in Neuronal Populations:** GABRG2 is expressed in various neuronal populations, including inhibitory interneurons, pyramidal neurons, and GABAergic cortical interneurons, highlighting its widespread involvement in neural circuitry. 3. **Involvement in Synaptic Transmission:** The GABRG2 gene is involved in regulating synaptic transmission across chemical synapses, which is essential for maintaining proper neuronal function and behavior. 4. **Benzodiazepine Receptor Activity:** GABRG2 is also involved in benzodiazepine receptor activity, which is a key mechanism for regulating GABAergic neurotransmission and promoting anxiolytic and sedative effects. **Pathways and Functions:** 1. **GABAergic Signaling Pathway:** GABRG2 is a key component of the GABAergic signaling pathway, which is responsible for regulating neuronal excitability and synaptic transmission. 2. **Chloride Channel Activity:** GABRG2 is a chloride channel subunit that plays a critical role in regulating chloride ion flow across the postsynaptic membrane, which is essential for modulating neuronal excitability and synaptic transmission. 3. **Regulation of Postsynaptic Membrane Potential:** The GABRG2 gene is involved in regulating postsynaptic membrane potential, which is critical for maintaining proper neuronal function and behavior. 4. **Inhibitory Synapse Assembly:** GABRG2 is involved in inhibitory synapse assembly, which is essential for regulating synaptic transmission and neuronal excitability. **Clinical Significance:** 1. **Neurological Disorders:** Alterations in GABRG2 expression have been implicated in various neurological disorders, including epilepsy, anxiety disorders, and schizophrenia. 2. **Anxiolytic and Sedative Effects:** GABRG2 is involved in benzodiazepine receptor activity, which is a key mechanism for regulating GABAergic neurotransmission and promoting anxiolytic and sedative effects. 3. **Neurodevelopmental Disorders:** GABRG2 is also involved in neurodevelopmental disorders, including autism spectrum disorder and attention-deficit/hyperactivity disorder (ADHD). 4. **Cancer Therapy:** GABRG2 has been identified as a potential target for cancer therapy, as it is involved in regulating tumor cell growth and proliferation. In conclusion, the gamma-aminobutyric acid type A receptor subunit gamma2 (GABRG2) gene plays a critical role in modulating neural synaptic transmission and behavior. Its significant expression in various neuronal populations and involvement in GABAergic signaling pathway, chloride channel activity, and regulation of postsynaptic membrane potential highlight its importance in maintaining proper neuronal function and behavior. Further research is needed to fully elucidate the clinical significance of GABRG2 and its potential applications in treating various neurological and cancer disorders.

Genular Protein ID: 312691704

Symbol: GBRG2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2538761

Title: Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology.

PubMed ID: 2538761

DOI: 10.1038/338582a0

PubMed ID: 11328646

Title: Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2.

PubMed ID: 11328646

DOI: 10.3109/10425170009033988

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 8382267

Title: Antibodies to the human gamma 2 subunit of the gamma-aminobutyric acidA/benzodiazepine receptor.

PubMed ID: 8382267

DOI: 10.1111/j.1471-4159.1993.tb03243.x

PubMed ID: 9892355

Title: GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton.

PubMed ID: 9892355

DOI: 10.1038/16264

PubMed ID: 14993607

Title: Tonic inhibition in mouse hippocampal CA1 pyramidal neurons is mediated by alpha5 subunit-containing gamma-aminobutyric acid type A receptors.

PubMed ID: 14993607

DOI: 10.1073/pnas.0307231101

PubMed ID: 16412217

Title: Impact of epsilon and theta subunits on pharmacological properties of alpha3beta1 GABAA receptors expressed in Xenopus oocytes.

PubMed ID: 16412217

DOI: 10.1186/1471-2210-6-1

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: 30602789

Title: Cryo-EM structure of the human alpha1beta3gamma2 GABAA receptor in a lipid bilayer.

PubMed ID: 30602789

DOI: 10.1038/s41586-018-0833-4

PubMed ID: 27864268

Title: De novo GABRG2 mutations associated with epileptic encephalopathies.

PubMed ID: 27864268

DOI: 10.1093/brain/aww272

PubMed ID: 11326274

Title: First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

PubMed ID: 11326274

DOI: 10.1038/ng0501-46

PubMed ID: 11326275

Title: Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

PubMed ID: 11326275

DOI: 10.1038/ng0501-49

PubMed ID: 16924025

Title: A novel GABRG2 mutation associated with febrile seizures.

PubMed ID: 16924025

DOI: 10.1212/01.wnl.0000230145.73496.a2

PubMed ID: 20485450

Title: Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

PubMed ID: 20485450

DOI: 10.1038/jhg.2010.47

PubMed ID: 21714819

Title: Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

PubMed ID: 21714819

DOI: 10.1111/j.1460-9568.2011.07767.x

PubMed ID: 23708187

Title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PubMed ID: 23708187

DOI: 10.1038/ng.2646

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

Sequence Information:

  • Length: 475
  • Mass: 55186
  • Checksum: DE142F62846576DF
  • Sequence:
  • MSSPNIWSTG SSVYSTPVFS QKMTVWILLL LSLYPGFTSQ KSDDDYEDYA SNKTWVLTPK 
    VPEGDVTVIL NNLLEGYDNK LRPDIGVKPT LIHTDMYVNS IGPVNAINME YTIDIFFAQT 
    WYDRRLKFNS TIKVLRLNSN MVGKIWIPDT FFRNSKKADA HWITTPNRML RIWNDGRVLY 
    TLRLTIDAEC QLQLHNFPMD EHSCPLEFSS YGYPREEIVY QWKRSSVEVG DTRSWRLYQF 
    SFVGLRNTTE VVKTTSGDYV VMSVYFDLSR RMGYFTIQTY IPCTLIVVLS WVSFWINKDA 
    VPARTSLGIT TVLTMTTLST IARKSLPKVS YVTAMDLFVS VCFIFVFSAL VEYGTLHYFV 
    SNRKPSKDKD KKKKNPLLRM FSFKAPTIDI RPRSATIQMN NATHLQERDE EYGYECLDGK 
    DCASFFCCFE DCRTGAWRHG RIHIRIAKMD SYARIFFPTA FCLFNLVYWV SYLYL

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.