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)

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

  • Cell Name: granule cell (CL0000120)
    Fold Change: 2.66
    Marker Score: 20071
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 2.65
    Marker Score: 6084
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.61
    Marker Score: 55674
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.18
    Marker Score: 8442
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.13
    Marker Score: 1403
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.03
    Marker Score: 40470
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.03
    Marker Score: 15551
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.91
    Marker Score: 870.5
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.86
    Marker Score: 10013
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.85
    Marker Score: 70216
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.84
    Marker Score: 113191
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.84
    Marker Score: 3733
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.84
    Marker Score: 7478
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.74
    Marker Score: 3290
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.73
    Marker Score: 9090
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.72
    Marker Score: 4904
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.63
    Marker Score: 60092
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.53
    Marker Score: 1327
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.51
    Marker Score: 2325
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.46
    Marker Score: 12518
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.45
    Marker Score: 1750
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.42
    Marker Score: 1341.5
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.41
    Marker Score: 821
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 1.4
    Marker Score: 503
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.39
    Marker Score: 13188
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.39
    Marker Score: 20731
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 863
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.35
    Marker Score: 2272
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.32
    Marker Score: 13657
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.28
    Marker Score: 3481
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.26
    Marker Score: 5823
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.22
    Marker Score: 2491
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.14
    Marker Score: 359
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.14
    Marker Score: 682
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.11
    Marker Score: 2789
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.05
    Marker Score: 709
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251788
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 790
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71807
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48032
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.96
    Marker Score: 1031.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5325
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5282
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.83
    Marker Score: 12919
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.82
    Marker Score: 3453
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.81
    Marker Score: 324
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.79
    Marker Score: 442
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 688
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.74
    Marker Score: 2484
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.72
    Marker Score: 764
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.72
    Marker Score: 2771
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.71
    Marker Score: 1011
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.69
    Marker Score: 2890
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.69
    Marker Score: 2850
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.68
    Marker Score: 432
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.67
    Marker Score: 281
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.65
    Marker Score: 6572
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.65
    Marker Score: 429
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.64
    Marker Score: 245
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.62
    Marker Score: 297
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.58
    Marker Score: 6500
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.57
    Marker Score: 274
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.57
    Marker Score: 495
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.56
    Marker Score: 2423
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.56
    Marker Score: 250
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.55
    Marker Score: 223
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.54
    Marker Score: 418
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.52
    Marker Score: 649
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.51
    Marker Score: 1207
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.51
    Marker Score: 164
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.51
    Marker Score: 99
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.5
    Marker Score: 4738
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 472
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.47
    Marker Score: 209
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.46
    Marker Score: 223
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.45
    Marker Score: 144
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.44
    Marker Score: 131
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.44
    Marker Score: 152
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.44
    Marker Score: 111
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.43
    Marker Score: 471
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.43
    Marker Score: 148
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.43
    Marker Score: 121
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.42
    Marker Score: 131
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.41
    Marker Score: 5350
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4
    Marker Score: 13672
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.4
    Marker Score: 104
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.39
    Marker Score: 143
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.38
    Marker Score: 222
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.38
    Marker Score: 160

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Other Information

**Key characteristics:** * The GABRA2 gene is located on chromosome 15q21.1. * It is a single copy gene, with a size of approximately 2.5 kb. * The protein encoded by GABRA2 is a type A gamma-aminobutyric acid receptor. * It is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is a ligand-gated ion channel. **Pathways and functions:** * The GABRA2 gene is involved in the Gabaergic signaling pathway. * It is expressed in neurons and astrocytes, where it is thought to be involved in regulating synaptic transmission. * In the Gabaergic signaling pathway, GABRA2 is a ligand for the Gaba receptor, which is an inhibitory neurotransmitter. * When GABRA2 binds to the Gaba receptor, it blocks the action of GABA, which leads to an increase in the amplitude of synaptic transmission. **Clinical significance:** Mutations in the GABRA2 gene have been linked to a number of neurological disorders, including autism, schizophrenia, and epilepsy. These disorders are characterized by abnormal synaptic transmission, which is thought to be due to abnormalities in the GABRA2 gene.

Genular Protein ID: 2123622260

Symbol: GBRA2_HUMAN

Name: Gamma-aminobutyric acid receptor subunit alpha-2

UniProtKB Accession Codes:

P47869 A8K0U7 B7Z1H8 Q59G14

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 93 DrugCentral 1 EMBL 10 Ensembl 4 ExpressionAtlas 1 GO 24 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 12 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 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 2 RNAct 1 Reactome 1 RefSeq 6 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: 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: 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:

E9PBQ7

Database IDs:

ARBA 26 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 12 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 4 PROSITE 1 PeptideAtlas 2 Pfam 4 PhylomeDB 1 Proteomes 2 ProteomicsDB 2 RefSeq 2 RuleBase 1 SAM 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

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. For the full schema, download it here.