Details for: GABRA3

Gene ID: 2556

Symbol: GABRA3

Ensembl ID: ENSG00000011677

Description: gamma-aminobutyric acid type A receptor subunit alpha3

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: progenitor cell (CL0011026)
    Fold Change: 8.23
    Marker Score: 53025
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.58
    Marker Score: 30246
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.91
    Marker Score: 606
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.89
    Marker Score: 17790
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.75
    Marker Score: 16612
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.67
    Marker Score: 6788.5
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.54
    Marker Score: 94790.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.5
    Marker Score: 2310
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.42
    Marker Score: 2949
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 864
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.28
    Marker Score: 574
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.27
    Marker Score: 4924
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.09
    Marker Score: 2065
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.05
    Marker Score: 964.5
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.05
    Marker Score: 10793
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 790
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.03
    Marker Score: 8858
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.02
    Marker Score: 5484.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71788
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48011
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5344
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5281
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.87
    Marker Score: 6668.5
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.86
    Marker Score: 503
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.83
    Marker Score: 28132
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.82
    Marker Score: 31250
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8
    Marker Score: 306
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 703
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.76
    Marker Score: 1540
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.72
    Marker Score: 681.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 178.5
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.69
    Marker Score: 832
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.69
    Marker Score: 400
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.68
    Marker Score: 846
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.68
    Marker Score: 13597
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.66
    Marker Score: 4400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.66
    Marker Score: 8734
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.64
    Marker Score: 425
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.62
    Marker Score: 343
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.59
    Marker Score: 352
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 450
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.56
    Marker Score: 619
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.56
    Marker Score: 324
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.55
    Marker Score: 8160.5
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.51
    Marker Score: 336
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.49
    Marker Score: 205
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.47
    Marker Score: 1081
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.47
    Marker Score: 7292.5
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.46
    Marker Score: 2150
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.46
    Marker Score: 188
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.46
    Marker Score: 943
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.46
    Marker Score: 1531
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.44
    Marker Score: 447
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.44
    Marker Score: 587
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.44
    Marker Score: 138
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.42
    Marker Score: 403
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.4
    Marker Score: 496
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.39
    Marker Score: 2370
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.39
    Marker Score: 1388
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.39
    Marker Score: 140
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.39
    Marker Score: 1110
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.37
    Marker Score: 2766.5
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.37
    Marker Score: 667
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.36
    Marker Score: 13330
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.35
    Marker Score: 114
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.35
    Marker Score: 567
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.35
    Marker Score: 423
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.35
    Marker Score: 109
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.34
    Marker Score: 802
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.34
    Marker Score: 291
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.33
    Marker Score: 313
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.32
    Marker Score: 286
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.32
    Marker Score: 321
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.31
    Marker Score: 213
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.3
    Marker Score: 143
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.3
    Marker Score: 173
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3
    Marker Score: 1240
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.3
    Marker Score: 347
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.29
    Marker Score: 142
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.29
    Marker Score: 163
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.29
    Marker Score: 694
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.29
    Marker Score: 171.5
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.29
    Marker Score: 412
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.29
    Marker Score: 74
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.28
    Marker Score: 366
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.28
    Marker Score: 1168
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.28
    Marker Score: 56
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.26
    Marker Score: 124
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.26
    Marker Score: 2628
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.25
    Marker Score: 75
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.25
    Marker Score: 77
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.25
    Marker Score: 86
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.24
    Marker Score: 65
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.23
    Marker Score: 972

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Other Information

**Key characteristics:** - The GABRA3 gene is located on chromosome 17q21.1. - It is a single-exon gene with a size of approximately 2.3 kb. - It encodes for a protein of 147 amino acids. **Pathways and functions:** - GABRA3 is involved in regulating the activity of chloride channels, which are a major target of GABA. - It is also involved in the regulation of synaptic transmission and gabaergic neurotransmission. - It is a key component of the inhibitory synapse assembly pathway, which is responsible for terminating neurotransmitter release at the presynaptic terminal. - It is also involved in the regulation of neuronal excitability and synaptic plasticity. **Clinical significance:** - Mutations in the GABRA3 gene have been linked to several neurological and psychiatric disorders, including autism spectrum disorder, schizophrenia, and epilepsy. - Genetic variants associated with GABRA3 have been shown to influence the risk of developing these disorders. - Therefore, targeting GABRA3 signaling is a potential therapeutic strategy for these disorders. **Additional notes:** - The GABRA3 gene is also involved in the regulation of blood pressure and blood volume. - It is a highly conserved gene, with a similar sequence found in mammals and birds. - The GABRA3 receptor is a G protein-coupled receptor, which means that it couples to G proteins to exert its effects.

Genular Protein ID: 4166412000

Symbol: GBRA3_HUMAN

Name: Gamma-aminobutyric acid receptor subunit alpha-3

UniProtKB Accession Codes:

P34903 Q8TAF9

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 11 EPD 1 Ensembl 2 GO 16 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 11 KEGG 1 MANE-Select 1 MIM 3 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 1 RNAct 1 Reactome 1 RefSeq 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 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: 10602120

Title: Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq.

PubMed ID: 10602120

DOI: 10.1002/(sici)1096-8628(20000103)90:1<69::aid-ajmg12>3.3.co;2-n

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: 26613940

Title: Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

PubMed ID: 26613940

DOI: 10.15252/emmm.201505323

PubMed ID: 29053855

Title: Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

PubMed ID: 29053855

DOI: 10.1093/brain/awx236

Sequence Information:

  • Length: 492
  • Mass: 55165
  • Checksum: 23A7390C9822691F
  • Sequence:
    • MIITQTSHCY MTSLGILFLI NILPGTTGQG ESRRQEPGDF VKQDIGGLSP KHAPDIPDDS 
TDNITIFTRI LDRLLDGYDN RLRPGLGDAV TEVKTDIYVT SFGPVSDTDM EYTIDVFFRQ 
TWHDERLKFD GPMKILPLNN LLASKIWTPD TFFHNGKKSV AHNMTTPNKL LRLVDNGTLL 
YTMRLTIHAE CPMHLEDFPM DVHACPLKFG SYAYTTAEVV YSWTLGKNKS VEVAQDGSRL 
NQYDLLGHVV GTEIIRSSTG EYVVMTTHFH LKRKIGYFVI QTYLPCIMTV ILSQVSFWLN 
RESVPARTVF GVTTVLTMTT LSISARNSLP KVAYATAMDW FIAVCYAFVF SALIEFATVN 
YFTKRSWAWE GKKVPEALEM KKKTPAAPAK KTSTTFNIVG TTYPINLAKD TEFSTISKGA 
APSASSTPTI IASPKATYVQ DSPTETKTYN SVSKVDKISR IIFPVLFAIF NLVYWATYVN 
RESAIKGMIR KQ

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.