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)

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

  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.58
    Marker Score: 2595
  • Cell Name: neuron (CL0000540)
    Fold Change: 2.47
    Marker Score: 10054
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.33
    Marker Score: 88594
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.27
    Marker Score: 6479
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.25
    Marker Score: 8707
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.2
    Marker Score: 16866
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.18
    Marker Score: 9037
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.18
    Marker Score: 32589
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.16
    Marker Score: 3629
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.12
    Marker Score: 9788
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.11
    Marker Score: 77699
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.07
    Marker Score: 41210
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.01
    Marker Score: 123580.5
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.97
    Marker Score: 18540
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.88
    Marker Score: 17888
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.78
    Marker Score: 15263
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.75
    Marker Score: 18106
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.65
    Marker Score: 1844
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.65
    Marker Score: 3355
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.62
    Marker Score: 2496
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.62
    Marker Score: 1175
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.58
    Marker Score: 1494
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.51
    Marker Score: 51069
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.49
    Marker Score: 1803
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.47
    Marker Score: 6117
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.35
    Marker Score: 706
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 860
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.2
    Marker Score: 6446
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 491
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.15
    Marker Score: 2652
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4816
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.13
    Marker Score: 7539
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.13
    Marker Score: 3779
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1
    Marker Score: 507
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.09
    Marker Score: 2073
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1
    Marker Score: 2031
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71823
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48047.5
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1
    Marker Score: 7520
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1
    Marker Score: 513
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.99
    Marker Score: 466
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 378
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5351
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.92
    Marker Score: 554
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2744
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 329
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.91
    Marker Score: 381
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.9
    Marker Score: 1856
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.86
    Marker Score: 394
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.85
    Marker Score: 490
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.78
    Marker Score: 212
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 466
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.64
    Marker Score: 507
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.61
    Marker Score: 600
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.61
    Marker Score: 756
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.6
    Marker Score: 190
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.57
    Marker Score: 541
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.56
    Marker Score: 177
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.55
    Marker Score: 266
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.54
    Marker Score: 987
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.54
    Marker Score: 671
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.53
    Marker Score: 8316
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.52
    Marker Score: 581
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.5
    Marker Score: 431
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.48
    Marker Score: 210
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.46
    Marker Score: 2436
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.45
    Marker Score: 260
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.45
    Marker Score: 443
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.44
    Marker Score: 772
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.42
    Marker Score: 249
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.41
    Marker Score: 474
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.41
    Marker Score: 4162
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.4
    Marker Score: 116
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.4
    Marker Score: 122
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.39
    Marker Score: 429
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.39
    Marker Score: 265
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.36
    Marker Score: 7709
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.36
    Marker Score: 172
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.34
    Marker Score: 165
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.34
    Marker Score: 180
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.34
    Marker Score: 129
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.33
    Marker Score: 372
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.33
    Marker Score: 103
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.32
    Marker Score: 94
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.32
    Marker Score: 131
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.31
    Marker Score: 917.5
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.31
    Marker Score: 108
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.3
    Marker Score: 149
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.3
    Marker Score: 196
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.3
    Marker Score: 474
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.29
    Marker Score: 854
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.26
    Marker Score: 146
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.25
    Marker Score: 75
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.25
    Marker Score: 167

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Other Information

**Key characteristics:** * The GABRG2 gene is located on chromosome 15q21.1. * It is a single-exon gene that encodes a protein of 319 amino acids. * The protein is a transmembrane protein that is expressed in a variety of cell types, including blood vessel endothelial cells, neurons, and interneurons. * The protein is a ligand for the GABA receptor, which is a G protein-coupled receptor. * The protein is involved in a variety of cellular processes, including inhibitory signaling, synaptic transmission, and neuronal development. **Pathways and functions:** * The GABRG2 gene is involved in the gamma-aminobutyric acid (GABA) signaling pathway. * The GABA signaling pathway is a major inhibitory pathway in the central nervous system. * The GABRG2 gene is also involved in the regulation of synaptic transmission. * The protein is a ligand for the GABA receptor, which is a G protein-coupled receptor that is expressed in a variety of cell types. * The binding of GABA to the GABRG2 receptor causes the closure of GABA-gated chloride ion channels, which leads to the inhibition of neuronal signaling. * The GABRG2 gene is also involved in the development of the nervous system. * In early development, the GABRG2 gene is expressed in a pattern that is consistent with the development of inhibitory interneurons. * After birth, the expression of the GABRG2 gene is maintained in a population of interneurons. **Clinical significance:** The GABRG2 gene is a potential therapeutic target for a variety of neurological disorders. For example, mutations in the GABRG2 gene have been linked to schizophrenia, autism, and epilepsy. Drugs that target the GABRG2 receptor have been shown to be effective in treating these disorders.

Genular Protein ID: 312691704

Symbol: GBRG2_HUMAN

Name: Gamma-aminobutyric acid receptor subunit gamma-2

UniProtKB Accession Codes:

P18507 F5HB82 Q6GRL6 Q6PCC3 Q9UDB3 Q9UN15

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CORUM 1 CTD 1 ChEMBL 14 ChiTaRS 1 ComplexPortal 6 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 81 DrugCentral 1 EMBL 8 EMDB 23 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 26 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 10 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 30 PDBsum 25 PIR 1 PRINTS 4 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 2 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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: 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: 27864268

Title: De novo GABRG2 mutations associated with epileptic encephalopathies.

PubMed ID: 27864268

DOI: 10.1093/brain/aww272

PubMed ID: 29950725

Title: Structure of a human synaptic GABAA receptor.

PubMed ID: 29950725

DOI: 10.1038/s41586-018-0255-3

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. For the full schema, download it here.