Details for: GABRG3

Gene ID: 2567

Symbol: GABRG3

Ensembl ID: ENSG00000182256

Description: gamma-aminobutyric acid type A receptor subunit gamma3

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: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 5.8697
    Cell Significance Index: 2105.3600
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 3.5378
    Cell Significance Index: 45.8800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 3.5223
    Cell Significance Index: 155.8000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.9274
    Cell Significance Index: 587.2300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 2.8659
    Cell Significance Index: 38.2300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.8650
    Cell Significance Index: 108.4900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.1754
    Cell Significance Index: 62.0800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.2146
    Cell Significance Index: 81.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.1091
    Cell Significance Index: 62.2400
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.8139
    Cell Significance Index: 8.9800
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.3379
    Cell Significance Index: 2.6000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.2671
    Cell Significance Index: 6.4700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.2181
    Cell Significance Index: 4.6300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.1607
    Cell Significance Index: 5.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1321
    Cell Significance Index: 243.6100
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0526
    Cell Significance Index: 0.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0177
    Cell Significance Index: 33.2600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0152
    Cell Significance Index: 23.4200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0046
    Cell Significance Index: -6.2400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0070
    Cell Significance Index: -0.1400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0100
    Cell Significance Index: -0.2800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0192
    Cell Significance Index: -0.3800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0223
    Cell Significance Index: -0.3200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0315
    Cell Significance Index: -20.0300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0358
    Cell Significance Index: -1.1400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0370
    Cell Significance Index: -5.3800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0415
    Cell Significance Index: -0.6300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0576
    Cell Significance Index: -43.5700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0592
    Cell Significance Index: -43.8400
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.0594
    Cell Significance Index: -0.7100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0635
    Cell Significance Index: -28.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0649
    Cell Significance Index: -29.4400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0787
    Cell Significance Index: -44.3800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0800
    Cell Significance Index: -43.7100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0890
    Cell Significance Index: -0.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1064
    Cell Significance Index: -21.1200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1076
    Cell Significance Index: -30.9700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1086
    Cell Significance Index: -2.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1263
    Cell Significance Index: -22.7600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1463
    Cell Significance Index: -8.9900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1509
    Cell Significance Index: -3.6200
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.1534
    Cell Significance Index: -2.1500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1874
    Cell Significance Index: -9.8400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2109
    Cell Significance Index: -2.4600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2115
    Cell Significance Index: -4.5700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2121
    Cell Significance Index: -44.6700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2125
    Cell Significance Index: -36.2900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2245
    Cell Significance Index: -27.6100
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2338
    Cell Significance Index: -4.8800
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.2346
    Cell Significance Index: -2.9600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2698
    Cell Significance Index: -34.8600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.3007
    Cell Significance Index: -41.3000
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.3059
    Cell Significance Index: -2.9000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.3070
    Cell Significance Index: -39.3500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3215
    Cell Significance Index: -37.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3508
    Cell Significance Index: -40.8800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3669
    Cell Significance Index: -42.0400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3734
    Cell Significance Index: -2.5300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4051
    Cell Significance Index: -42.1800
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.4150
    Cell Significance Index: -4.1800
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.4208
    Cell Significance Index: -3.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4705
    Cell Significance Index: -36.1100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4920
    Cell Significance Index: -36.6700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5361
    Cell Significance Index: -18.7800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5436
    Cell Significance Index: -34.2600
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.5521
    Cell Significance Index: -4.3300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.5726
    Cell Significance Index: -26.9100
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.5876
    Cell Significance Index: -11.5700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6009
    Cell Significance Index: -31.3000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.6905
    Cell Significance Index: -13.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.6986
    Cell Significance Index: -36.2900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.7007
    Cell Significance Index: -32.6700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.7438
    Cell Significance Index: -8.4500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.7869
    Cell Significance Index: -9.7600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.8735
    Cell Significance Index: -12.4100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.9582
    Cell Significance Index: -16.4200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.9744
    Cell Significance Index: -35.7700
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.9798
    Cell Significance Index: -13.0600
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: -0.9935
    Cell Significance Index: -0.7100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -1.0524
    Cell Significance Index: -36.9800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.0642
    Cell Significance Index: -36.9800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.0702
    Cell Significance Index: -27.5100
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: -1.1356
    Cell Significance Index: -8.7100
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -1.1390
    Cell Significance Index: -11.7100
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -1.1399
    Cell Significance Index: -7.9100
  • Cell Name: L5/6 near-projecting glutamatergic neuron of the primary motor cortex (CL4023043)
    Fold Change: -1.1757
    Cell Significance Index: -11.8800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.2087
    Cell Significance Index: -38.2300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -1.2306
    Cell Significance Index: -19.0400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.2450
    Cell Significance Index: -36.6700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.2775
    Cell Significance Index: -36.6200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.2866
    Cell Significance Index: -37.0700
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -1.3069
    Cell Significance Index: -13.5300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -1.3197
    Cell Significance Index: -35.9200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.3245
    Cell Significance Index: -30.6000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -1.3293
    Cell Significance Index: -28.4200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -1.3426
    Cell Significance Index: -33.4800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.3549
    Cell Significance Index: -27.5700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -1.3719
    Cell Significance Index: -23.7200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.3926
    Cell Significance Index: -19.0000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.4124
    Cell Significance Index: -37.1400

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:** GABRG3 is a transmembrane receptor subunit that forms part of the GABA_A receptor complex. 2. **Signaling pathways:** The GABRG3 gene is involved in chloride channel activity, GABAergic synapse assembly, and regulation of postsynaptic membrane potential. 3. **Cell type specificity:** GABRG3 is significantly expressed in interneuron populations, including inhibitory interneurons, chandelier cells, and cardiac endothelial cells. 4. **Protein structure:** The gamma3 subunit is a transmembrane receptor with a characteristic seven-transmembrane domain structure. 5. **Function:** GABRG3 plays a critical role in regulating inhibitory synaptic function, modulating the activity of GABAergic interneurons, and influencing the excitability of neurons. **Pathways and Functions:** 1. **GABAergic signaling pathway:** GABRG3 is a key component of the GABAergic signaling pathway, which involves the binding of GABA to the GABA_A receptor complex, leading to the opening of chloride channels and the hyperpolarization of neurons. 2. **Chloride channel activity:** GABRG3 is involved in chloride channel activity, which is essential for regulating the excitability of neurons and modulating inhibitory synaptic function. 3. **Regulation of postsynaptic membrane potential:** GABRG3 plays a critical role in regulating the postsynaptic membrane potential, influencing the excitability of neurons, and modulating the activity of GABAergic interneurons. 4. **Inhibitory synapse assembly:** GABRG3 is involved in the assembly of inhibitory synapses, which are critical for regulating neuronal excitability and modulating synaptic plasticity. 5. **Neuronal system process:** GABRG3 is involved in various neuronal system processes, including nervous system development, neuronal migration, and synaptic plasticity. **Clinical Significance:** 1. **Epilepsy:** Dysregulation of GABRG3 has been implicated in various forms of epilepsy, including absence epilepsy and partial seizures. 2. **Anxiety disorders:** GABRG3 has been shown to be involved in the regulation of anxiety-related behaviors, and its dysregulation has been implicated in various anxiety disorders. 3. **Neurodevelopmental disorders:** GABRG3 has been implicated in various neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. 4. **Cardiac function:** GABRG3 is expressed in cardiac endothelial cells, and its dysregulation has been implicated in various cardiac disorders, including heart failure and arrhythmias. 5. **Cancer:** GABRG3 has been shown to be involved in cancer progression, and its dysregulation has been implicated in various types of cancer, including breast cancer and lung cancer. In conclusion, the gamma-aminobutyric acid type A receptor subunit gamma3 (GABRG3) is a critical component of inhibitory synaptic function, playing a vital role in regulating neuronal excitability and modulating synaptic plasticity. Its dysregulation has been implicated in various neurological and psychiatric disorders, highlighting the importance of further research into the molecular mechanisms underlying GABRG3 function and its clinical significance.

Genular Protein ID: 2250889328

Symbol: GBRG3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q99928 G3V594 Q9HD46 Q9NYT2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 1 ChEMBL 2 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 79 DrugCentral 1 EMBL 21 Ensembl 2 ExpressionAtlas 1 GO 21 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 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 2 RefSeq 2 Rhea 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8719414

Title: Expression and pharmacology of human GABAA receptors containing gamma 3 subunits.

PubMed ID: 8719414

DOI: 10.1016/0922-4106(95)90070-5

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

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: 26566883

Title: Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.

PubMed ID: 26566883

DOI: 10.1136/jmedgenet-2015-103179

Sequence Information:

  • Length: 467
  • Mass: 54289
  • Checksum: 1B22D145166438D6
  • Sequence:
    • MAPKLLLLLC LFSGLHARSR KVEEDEYEDS SSNQKWVLAP KSQDTDVTLI LNKLLREYDK 
KLRPDIGIKP TVIDVDIYVN SIGPVSSINM EYQIDIFFAQ TWTDSRLRFN STMKILTLNS 
NMVGLIWIPD TIFRNSKTAE AHWITTPNQL LRIWNDGKIL YTLRLTINAE CQLQLHNFPM 
DEHSCPLIFS SYGYPKEEMI YRWRKNSVEA ADQKSWRLYQ FDFMGLRNTT EIVTTSAGDY 
VVMTIYFELS RRMGYFTIQT YIPCILTVVL SWVSFWIKKD ATPARTALGI TTVLTMTTLS 
TIARKSLPRV SYVTAMDLFV TVCFLFVFAA LMEYATLNYY SSCRKPTTTK KTTSLLHPDS 
SRWIPERISL QAPSNYSLLD MRPPPTAMIT LNNSVYWQEF EDTCVYECLD GKDCQSFFCC 
YEECKSGSWR KGRIHIDILE LDSYSRVFFP TSFLLFNLVY WVGYLYL

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.