Details for: GABRA2

Gene ID: 2555

Symbol: GABRA2

Ensembl ID: ENSG00000151834

Description: gamma-aminobutyric acid type A receptor subunit alpha2

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: GABAergic amacrine cell (CL4030027)
    Fold Change: 4.4738
    Cell Significance Index: 55.4900
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 3.6965
    Cell Significance Index: 51.6900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.9638
    Cell Significance Index: 1063.0600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.6897
    Cell Significance Index: 539.5600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.5402
    Cell Significance Index: 112.3600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.5259
    Cell Significance Index: 72.0800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.5175
    Cell Significance Index: 95.3300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 2.3838
    Cell Significance Index: 146.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.3038
    Cell Significance Index: 154.9100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.9740
    Cell Significance Index: 31.6700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.7521
    Cell Significance Index: 42.0200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.3014
    Cell Significance Index: 68.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.1746
    Cell Significance Index: 812.3800
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.1222
    Cell Significance Index: 14.9700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7386
    Cell Significance Index: 73.0600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7183
    Cell Significance Index: 648.5600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4415
    Cell Significance Index: 12.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4097
    Cell Significance Index: 66.6300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3709
    Cell Significance Index: 40.3500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.3088
    Cell Significance Index: 5.3400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2816
    Cell Significance Index: 53.5900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2717
    Cell Significance Index: 16.3100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2352
    Cell Significance Index: 5.8800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1488
    Cell Significance Index: 10.2900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1352
    Cell Significance Index: 6.1300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1235
    Cell Significance Index: 4.3400
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0683
    Cell Significance Index: 0.6500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0007
    Cell Significance Index: -0.0800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0083
    Cell Significance Index: -15.5400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0101
    Cell Significance Index: -18.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0136
    Cell Significance Index: -21.0100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0143
    Cell Significance Index: -0.3100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0143
    Cell Significance Index: -19.5000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0369
    Cell Significance Index: -0.7300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0390
    Cell Significance Index: -28.6100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0428
    Cell Significance Index: -31.7000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0494
    Cell Significance Index: -22.4400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0503
    Cell Significance Index: -22.2400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0504
    Cell Significance Index: -31.9900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0578
    Cell Significance Index: -32.6100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0602
    Cell Significance Index: -37.5600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0826
    Cell Significance Index: -0.9000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0878
    Cell Significance Index: -25.2600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1168
    Cell Significance Index: -23.1700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1222
    Cell Significance Index: -12.7300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1274
    Cell Significance Index: -3.5600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1282
    Cell Significance Index: -17.6100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1375
    Cell Significance Index: -3.3300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.1434
    Cell Significance Index: -1.8600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1581
    Cell Significance Index: -2.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1648
    Cell Significance Index: -29.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1717
    Cell Significance Index: -36.1600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1850
    Cell Significance Index: -2.6500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1951
    Cell Significance Index: -33.3100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2099
    Cell Significance Index: -30.5100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2145
    Cell Significance Index: -4.4500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2202
    Cell Significance Index: -4.4200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2284
    Cell Significance Index: -6.0100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2506
    Cell Significance Index: -30.8100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2731
    Cell Significance Index: -35.2800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3055
    Cell Significance Index: -35.0000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3083
    Cell Significance Index: -13.4100
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.3215
    Cell Significance Index: -4.8100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3270
    Cell Significance Index: -6.9400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3460
    Cell Significance Index: -21.2100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3543
    Cell Significance Index: -11.6000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3649
    Cell Significance Index: -28.0000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3731
    Cell Significance Index: -11.9500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3746
    Cell Significance Index: -11.9300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4385
    Cell Significance Index: -34.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4665
    Cell Significance Index: -26.1800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4681
    Cell Significance Index: -9.9700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4731
    Cell Significance Index: -35.2600
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.5062
    Cell Significance Index: -3.9700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.5078
    Cell Significance Index: -26.3800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5187
    Cell Significance Index: -18.1700
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.5297
    Cell Significance Index: -6.1800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.5625
    Cell Significance Index: -6.3900
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.5644
    Cell Significance Index: -6.4600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5743
    Cell Significance Index: -36.2000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6034
    Cell Significance Index: -31.4300
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.6117
    Cell Significance Index: -5.5300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6378
    Cell Significance Index: -13.7800
  • Cell Name: granule cell (CL0000120)
    Fold Change: -0.6381
    Cell Significance Index: -7.2700
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.6411
    Cell Significance Index: -9.1100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.6434
    Cell Significance Index: -30.0000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.6605
    Cell Significance Index: -4.4800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.7026
    Cell Significance Index: -6.6600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.7049
    Cell Significance Index: -8.7900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.7180
    Cell Significance Index: -9.0600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.7322
    Cell Significance Index: -34.4200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7434
    Cell Significance Index: -19.1100
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.7791
    Cell Significance Index: -15.3400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8349
    Cell Significance Index: -30.6500
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.8462
    Cell Significance Index: -11.2800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.8654
    Cell Significance Index: -18.9500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.8779
    Cell Significance Index: -21.9000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.8856
    Cell Significance Index: -17.6600
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.8981
    Cell Significance Index: -10.7400
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.9295
    Cell Significance Index: -19.4000

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. **Subunit structure**: The GABRA2 gene encodes for the alpha2 subunit of the GABA_A receptor, which is composed of five subunits (alpha, beta, gamma, delta, and epsilon). 2. **Ligand-gated chloride channel**: GABA_A receptors are ligand-gated chloride channels that respond to the neurotransmitter GABA, leading to the opening of chloride channels and hyperpolarization of the postsynaptic neuron. 3. **Inhibitory neurotransmission**: GABA_A receptors play a crucial role in inhibitory neurotransmission, regulating neuronal excitability and synaptic transmission. 4. **Modulatory function**: The alpha2 subunit is involved in modulating the activity of GABA_A receptors, influencing the amplitude and duration of IPSCs. **Pathways and Functions** 1. **GABAergic signaling pathway**: GABRA2 is involved in the GABAergic signaling pathway, which is the primary inhibitory neurotransmitter system in the nervous system. 2. **Inhibitory synapse assembly**: GABRA2 is required for the assembly of inhibitory synapses, which are critical for regulating neuronal excitability and synaptic transmission. 3. **Regulation of postsynaptic membrane potential**: The alpha2 subunit modulates the activity of GABA_A receptors, influencing the regulation of postsynaptic membrane potential. 4. **Neurotransmitter receptors and postsynaptic signal transmission**: GABRA2 is involved in the regulation of postsynaptic signal transmission, influencing the strength and efficacy of synaptic transmission. **Clinical Significance** 1. **Neurological disorders**: Mutations in the GABRA2 gene have been associated with various neurological disorders, including epilepsy, anxiety disorders, and schizophrenia. 2. **Pharmacological targets**: GABRA2 is a potential target for the development of new antidepressant and anticonvulsant therapies, given its role in regulating inhibitory neurotransmission. 3. **Neurodevelopmental disorders**: Abnormalities in GABRA2 expression and function have been implicated in neurodevelopmental disorders, such as autism spectrum disorder and attention-deficit/hyperactivity disorder (ADHD). 4. **Cognitive function**: GABRA2 is involved in regulating cognitive function, including attention, memory, and learning, highlighting its potential as a therapeutic target for cognitive disorders. In conclusion, the GABRA2 gene plays a critical role in regulating inhibitory neurotransmission and synaptic transmission in the nervous system. Its involvement in various neurological disorders, pharmacological targets, and neurodevelopmental disorders highlights its significance in human health and disease.

Genular Protein ID: 2123622260

Symbol: GBRA2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8391122

Title: Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma-aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors.

PubMed ID: 8391122

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10449790

Title: Theta, a novel gamma-aminobutyric acid type A receptor subunit.

PubMed ID: 10449790

DOI: 10.1073/pnas.96.17.9891

PubMed ID: 15024690

Title: Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations.

PubMed ID: 15024690

DOI: 10.1086/383283

PubMed ID: 29961870

Title: De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

PubMed ID: 29961870

DOI: 10.1093/brain/awy171

PubMed ID: 29422393

Title: A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

PubMed ID: 29422393

DOI: 10.1016/j.ejpn.2017.12.017

PubMed ID: 31032849

Title: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

PubMed ID: 31032849

DOI: 10.1093/brain/awz079

Sequence Information:

  • Length: 451
  • Mass: 51326
  • Checksum: 43F9F708B5A00FFD
  • Sequence:
  • MKTKLNIYNM QFLLFVFLVW DPARLVLANI QEDEAKNNIT IFTRILDRLL DGYDNRLRPG 
    LGDSITEVFT NIYVTSFGPV SDTDMEYTID VFFRQKWKDE RLKFKGPMNI LRLNNLMASK 
    IWTPDTFFHN GKKSVAHNMT MPNKLLRIQD DGTLLYTMRL TVQAECPMHL EDFPMDAHSC 
    PLKFGSYAYT TSEVTYIWTY NASDSVQVAP DGSRLNQYDL LGQSIGKETI KSSTGEYTVM 
    TAHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 
    RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GWAWDGKSVV NDKKKEKASV 
    MIQNNAYAVA VANYAPNLSK DPVLSTISKS ATTPEPNKKP ENKPAEAKKT FNSVSKIDRM 
    SRIVFPVLFG TFNLVYWATY LNREPVLGVS P

Genular Protein ID: 1285142515

Symbol: E9PBQ7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 511
  • Mass: 58228
  • Checksum: FEA49855AE25C20A
  • Sequence:
  • MKTKLNIYNM QFLLFVFLVW DPARLVLANI QEDEAKNNIT IFTRILDRLL DGYDNRLRPG 
    LGDSITEVFT NIYVTSFGPV SDTDMEYTID VFFRQKWKDE RLKFKGPMNI LRLNNLMASK 
    IWTPDTFFHN GKKSVAHNMT MPNKLLRIQD DGTLLYTMRL TVQAECPMHL EDFPMDAHSC 
    PLKFGSYAYT TSEVTYIWTY NASDSVQVAP DGSRLNQYDL LGQSIGKETI KSSTGEYTVM 
    TAHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 
    RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GWAWDGKSVV NDKSPSIKAE 
    GITLTYNSVK AILQGAKLIW SKYIAFSWPS LFQEKTLEYL EKWMDCLTFK QSSKKEKASV 
    MIQNNAYAVA VANYAPNLSK DPVLSTISKS ATTPEPNKKP ENKPAEAKKT FNSVSKIDRM 
    SRIVFPVLFG TFNLVYWATY LNREPVLGVS P

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.