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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.3942
    Cell Significance Index: -5.2400
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 2.0577
    Cell Significance Index: 29.8800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.5657
    Cell Significance Index: 19.4200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.3971
    Cell Significance Index: 39.8700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.1116
    Cell Significance Index: 24.3400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0270
    Cell Significance Index: 206.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7754
    Cell Significance Index: 278.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.7531
    Cell Significance Index: 39.5400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6905
    Cell Significance Index: 42.4400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6768
    Cell Significance Index: 468.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.5955
    Cell Significance Index: 40.0500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.5518
    Cell Significance Index: 13.2300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5256
    Cell Significance Index: 27.3100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.3059
    Cell Significance Index: 4.0800
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.2252
    Cell Significance Index: 2.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2201
    Cell Significance Index: 12.3500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0459
    Cell Significance Index: 9.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0368
    Cell Significance Index: 50.0500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0241
    Cell Significance Index: 44.4800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0142
    Cell Significance Index: 21.8400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0101
    Cell Significance Index: 18.9500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0160
    Cell Significance Index: -10.1400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0221
    Cell Significance Index: -9.7800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0228
    Cell Significance Index: -17.2400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0236
    Cell Significance Index: -17.4700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0245
    Cell Significance Index: -0.4200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0289
    Cell Significance Index: -18.0500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0300
    Cell Significance Index: -16.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0303
    Cell Significance Index: -13.7300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0316
    Cell Significance Index: -4.6000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0372
    Cell Significance Index: -6.7000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0385
    Cell Significance Index: -1.2300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0460
    Cell Significance Index: -13.2400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0525
    Cell Significance Index: -8.9600
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0552
    Cell Significance Index: -0.4500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0575
    Cell Significance Index: -7.9000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0789
    Cell Significance Index: -3.4900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0810
    Cell Significance Index: -17.0600
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.0852
    Cell Significance Index: -0.9400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0932
    Cell Significance Index: -11.4600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1149
    Cell Significance Index: -3.2100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1187
    Cell Significance Index: -3.1700
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1294
    Cell Significance Index: -1.4100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1417
    Cell Significance Index: -4.6400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1475
    Cell Significance Index: -17.1900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1531
    Cell Significance Index: -15.9400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1542
    Cell Significance Index: -5.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1551
    Cell Significance Index: -10.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1553
    Cell Significance Index: -17.7900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1612
    Cell Significance Index: -4.0200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1613
    Cell Significance Index: -7.0100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1913
    Cell Significance Index: -14.6800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1952
    Cell Significance Index: -3.8600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2132
    Cell Significance Index: -4.2800
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2165
    Cell Significance Index: -2.0600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2322
    Cell Significance Index: -3.3300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2400
    Cell Significance Index: -6.4200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2438
    Cell Significance Index: -8.5400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2630
    Cell Significance Index: -12.2600
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.2823
    Cell Significance Index: -2.3300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3085
    Cell Significance Index: -7.9300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3115
    Cell Significance Index: -6.7300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3289
    Cell Significance Index: -15.4600
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.3555
    Cell Significance Index: -3.3700
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.3555
    Cell Significance Index: -4.6100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3788
    Cell Significance Index: -8.0400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3909
    Cell Significance Index: -5.7700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.4104
    Cell Significance Index: -10.2500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4111
    Cell Significance Index: -15.0900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4319
    Cell Significance Index: -8.4300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.4327
    Cell Significance Index: -13.6900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4380
    Cell Significance Index: -5.1100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.4455
    Cell Significance Index: -10.7900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4464
    Cell Significance Index: -6.0900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.4659
    Cell Significance Index: -16.3700
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.4699
    Cell Significance Index: -5.9300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4830
    Cell Significance Index: -10.1100
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.4870
    Cell Significance Index: -6.9200
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: -0.4921
    Cell Significance Index: -5.2900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5096
    Cell Significance Index: -17.7100
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.5105
    Cell Significance Index: -10.6600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.5172
    Cell Significance Index: -10.1800
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.5405
    Cell Significance Index: -5.6300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.5425
    Cell Significance Index: -15.6300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.5446
    Cell Significance Index: -3.6900
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.5572
    Cell Significance Index: -4.8200
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.5586
    Cell Significance Index: -11.1400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5676
    Cell Significance Index: -15.2100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.5919
    Cell Significance Index: -16.1100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6121
    Cell Significance Index: -18.0300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6142
    Cell Significance Index: -16.1500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.6220
    Cell Significance Index: -15.5100
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.6250
    Cell Significance Index: -9.3500
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.6264
    Cell Significance Index: -8.3500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.6293
    Cell Significance Index: -10.8800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.6300
    Cell Significance Index: -12.8200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.6308
    Cell Significance Index: -15.3900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6519
    Cell Significance Index: -16.3000
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.6524
    Cell Significance Index: -7.7100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.6606
    Cell Significance Index: -16.8300

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** The GABRA3 gene shares several key characteristics with other GABA_A receptor subunits. These include: * **Transmembrane domain**: The GABRA3 protein has 7 transmembrane domains, which are essential for the formation of the GABA_A receptor complex. * **Ligand-binding site**: The GABRA3 subunit contains a ligand-binding site that interacts with the neurotransmitter GABA, leading to the opening of the chloride channel. * **Ion channel activity**: The GABRA3 subunit is an integral part of the GABA_A receptor complex, which forms a ligand-gated chloride channel that regulates the flow of chloride ions into neurons. * **Regulatory phosphorylation**: The GABRA3 subunit is subject to regulatory phosphorylation by protein kinase C (PKC), which modulates the receptor's activity and synaptic plasticity. **Pathways and Functions** The GABRA3 gene is involved in several key pathways and functions, including: * **GABAergic signaling**: The GABRA3 subunit plays a critical role in GABAergic signaling, which is essential for regulating neuronal excitability and synaptic transmission. * **Inhibitory synapse assembly**: The GABRA3 subunit is involved in the assembly of inhibitory synapses, which are critical for regulating neuronal activity and synaptic plasticity. * **Neurotransmitter receptor activity**: The GABRA3 subunit is a component of the GABA_A receptor complex, which is a ligand-gated ion channel that regulates the flow of chloride ions into neurons. * **Neuronal excitability**: The GABRA3 subunit modulates neuronal excitability by regulating the flow of chloride ions into neurons, leading to hyperpolarization and inhibition of neuronal activity. **Clinical Significance** Alterations in GABRA3 expression have been implicated in several neurological disorders, including: * **Epilepsy**: Mutations in the GABRA3 gene have been associated with absence epilepsy and juvenile myoclonic epilepsy, highlighting the importance of GABAergic signaling in regulating neuronal excitability. * **Schizophrenia**: Studies have implicated GABRA3 in the pathophysiology of schizophrenia, suggesting that alterations in GABAergic signaling may contribute to the development of this disorder. * **Neurodevelopmental disorders**: GABRA3 has been implicated in neurodevelopmental disorders such as autism spectrum disorder and attention-deficit/hyperactivity disorder, highlighting the importance of GABAergic signaling in regulating neuronal development and function. In conclusion, the GABRA3 gene plays a critical role in regulating neuronal excitability and synaptic transmission through its involvement in GABAergic signaling, inhibitory synapse assembly, and neurotransmitter receptor activity. Alterations in GABRA3 expression have been implicated in several neurological disorders, highlighting the importance of this gene in understanding the pathophysiology of these conditions.

Genular Protein ID: 4166412000

Symbol: GBRA3_HUMAN

Name: N/A

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 ChEBI 3 ChEMBL 1 ChiTaRS 1 ComplexPortal 5 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 94 DrugCentral 1 EMBL 11 Ensembl 2 GO 17 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 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 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 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: 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: 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. 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.