Details for: GABRA5

Gene ID: 2558

Symbol: GABRA5

Ensembl ID: ENSG00000186297

Description: gamma-aminobutyric acid type A receptor subunit alpha5

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: mucosal type mast cell (CL0000485)
    Fold Change: 21.4889
    Cell Significance Index: -8.7300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 9.2171
    Cell Significance Index: -8.8000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.5174
    Cell Significance Index: 71.8400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.1085
    Cell Significance Index: 141.7800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.1998
    Cell Significance Index: 53.0700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.0397
    Cell Significance Index: 39.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8158
    Cell Significance Index: 163.6400
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.8158
    Cell Significance Index: 19.7600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.7451
    Cell Significance Index: 10.6700
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.6897
    Cell Significance Index: 9.2000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4252
    Cell Significance Index: 152.5000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.2199
    Cell Significance Index: 2.6700
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.1864
    Cell Significance Index: 1.4300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.1642
    Cell Significance Index: 2.1300
  • Cell Name: diffuse bipolar 1 cell (CL4033027)
    Fold Change: 0.1275
    Cell Significance Index: 1.5600
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0694
    Cell Significance Index: 0.6600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.0125
    Cell Significance Index: 0.2700
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: 0.0049
    Cell Significance Index: 0.0600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.0031
    Cell Significance Index: 0.1000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0019
    Cell Significance Index: 0.1000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0028
    Cell Significance Index: -5.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0036
    Cell Significance Index: -5.5300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0038
    Cell Significance Index: -7.2100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0040
    Cell Significance Index: -5.4300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0054
    Cell Significance Index: -0.3300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0088
    Cell Significance Index: -6.5400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0111
    Cell Significance Index: -8.1100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0120
    Cell Significance Index: -6.7900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0122
    Cell Significance Index: -7.7700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0147
    Cell Significance Index: -9.1700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0154
    Cell Significance Index: -6.9800
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.0217
    Cell Significance Index: -0.2700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0230
    Cell Significance Index: -6.6100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0341
    Cell Significance Index: -7.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0362
    Cell Significance Index: -6.1800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0419
    Cell Significance Index: -8.3200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0420
    Cell Significance Index: -7.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0492
    Cell Significance Index: -7.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0513
    Cell Significance Index: -7.0400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0574
    Cell Significance Index: -6.5800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0613
    Cell Significance Index: -1.4700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0625
    Cell Significance Index: -1.9900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0646
    Cell Significance Index: -7.9400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0669
    Cell Significance Index: -0.7800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0698
    Cell Significance Index: -1.7400
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0739
    Cell Significance Index: -0.8100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0752
    Cell Significance Index: -1.5100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0780
    Cell Significance Index: -8.1200
  • Cell Name: diffuse bipolar 2 cell (CL4033028)
    Fold Change: -0.0904
    Cell Significance Index: -1.1100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0911
    Cell Significance Index: -3.1900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0928
    Cell Significance Index: -1.9700
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0949
    Cell Significance Index: -0.9000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1000
    Cell Significance Index: -5.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1014
    Cell Significance Index: -7.7800
  • Cell Name: L5/6 near-projecting glutamatergic neuron of the primary motor cortex (CL4023043)
    Fold Change: -0.1029
    Cell Significance Index: -1.0400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1044
    Cell Significance Index: -2.9200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1148
    Cell Significance Index: -6.4400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1229
    Cell Significance Index: -3.0600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1423
    Cell Significance Index: -2.8000
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.1552
    Cell Significance Index: -2.1700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1589
    Cell Significance Index: -7.4700
  • Cell Name: diffuse bipolar 4 cell (CL4033031)
    Fold Change: -0.1594
    Cell Significance Index: -1.9400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1692
    Cell Significance Index: -6.2100
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: -0.1728
    Cell Significance Index: -1.8900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1809
    Cell Significance Index: -5.7200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1836
    Cell Significance Index: -3.6300
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.1898
    Cell Significance Index: -2.5300
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1900
    Cell Significance Index: -2.8400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1931
    Cell Significance Index: -3.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1957
    Cell Significance Index: -4.2400
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2065
    Cell Significance Index: -4.3100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2166
    Cell Significance Index: -6.2100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2214
    Cell Significance Index: -6.3800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.2237
    Cell Significance Index: -4.4600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2264
    Cell Significance Index: -5.8200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2346
    Cell Significance Index: -6.1700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2366
    Cell Significance Index: -8.2200
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.2389
    Cell Significance Index: -3.1300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2398
    Cell Significance Index: -5.9900
  • Cell Name: L5 intratelencephalic projecting glutamatergic neuron (CL4030064)
    Fold Change: -0.2409
    Cell Significance Index: -2.6000
  • Cell Name: giant bipolar cell (CL4033035)
    Fold Change: -0.2410
    Cell Significance Index: -2.8200
  • Cell Name: diffuse bipolar 3b cell (CL4033030)
    Fold Change: -0.2436
    Cell Significance Index: -2.9400
  • Cell Name: diffuse bipolar 3a cell (CL4033029)
    Fold Change: -0.2460
    Cell Significance Index: -2.9600
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.2492
    Cell Significance Index: -2.9800
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.2519
    Cell Significance Index: -3.5800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2689
    Cell Significance Index: -6.5600
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.2748
    Cell Significance Index: -3.1500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2818
    Cell Significance Index: -8.3000
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.3002
    Cell Significance Index: -5.8700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3013
    Cell Significance Index: -6.2500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3025
    Cell Significance Index: -8.0800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.3045
    Cell Significance Index: -6.2000
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -0.3093
    Cell Significance Index: -3.1800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3112
    Cell Significance Index: -7.9300
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.3121
    Cell Significance Index: -2.7000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3135
    Cell Significance Index: -8.4000
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3202
    Cell Significance Index: -4.0400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3207
    Cell Significance Index: -6.8600
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.3235
    Cell Significance Index: -4.1800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.3360
    Cell Significance Index: -5.8100

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 GABRA5 gene is characterized by its involvement in several key biological processes, including: 1. **GABAergic signaling**: GABRA5 is a subunit of the GABA-A receptor, which is the primary inhibitory neurotransmitter receptor in the central nervous system. 2. **Inhibitory synapse assembly**: GABRA5 is involved in the formation and regulation of inhibitory synapses, which play a crucial role in modulating neuronal excitability and synaptic plasticity. 3. **Neurotransmitter receptor activity**: GABRA5 is a ligand-gated ion channel, which allows it to regulate postsynaptic membrane potential and synaptic transmission. 4. **Regulation of postsynaptic membrane potential**: GABRA5 helps to regulate the postsynaptic membrane potential, modulating the excitability of neurons and the strength of synaptic connections. **Pathways and Functions** The GABRA5 gene is involved in several key pathways, including: 1. **GABAergic signaling pathway**: The GABRA5 gene is a critical component of the GABAergic signaling pathway, which is involved in regulating neuronal excitability and synaptic transmission. 2. **Inhibitory synapse assembly pathway**: GABRA5 is involved in the formation and regulation of inhibitory synapses, which play a crucial role in modulating neuronal excitability and synaptic plasticity. 3. **Neurotransmitter receptor activity pathway**: GABRA5 is a ligand-gated ion channel, which allows it to regulate postsynaptic membrane potential and synaptic transmission. 4. **Regulation of postsynaptic membrane potential pathway**: GABRA5 helps to regulate the postsynaptic membrane potential, modulating the excitability of neurons and the strength of synaptic connections. **Clinical Significance** The GABRA5 gene has been implicated in several neurological disorders, including: 1. **Epilepsy**: Variants in the GABRA5 gene have been associated with an increased risk of developing epilepsy. 2. **Anxiety and depression**: GABRA5 has been implicated in the regulation of anxiety and depression, and variants in the gene have been associated with an increased risk of developing these disorders. 3. **Neurodevelopmental disorders**: GABRA5 has been implicated in the development of neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. In conclusion, the GABRA5 gene plays a critical role in regulating neuronal excitability and synaptic transmission, and its dysregulation has been implicated in several neurological disorders. Further research is needed to fully understand the mechanisms by which GABRA5 regulates neuronal function and to develop effective therapeutic strategies for the treatment of GABRA5-related disorders.

Genular Protein ID: 3151755601

Symbol: GBRA5_HUMAN

Name: N/A

UniProtKB Accession Codes:

P31644 A8K338 Q14DC2 Q53XL6 Q9NYT3 Q9NYT4 Q9NYT5

Database IDs:

ABCD 1 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 91 DrugCentral 1 EMBL 9 EMDB 11 Ensembl 3 ExpressionAtlas 1 GO 31 Gene3D 2 GeneCards 1 GeneReviews 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 PDB 15 PDBsum 15 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 4 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: 1321750

Title: Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit.

PubMed ID: 1321750

DOI: 10.1042/bst020018s

PubMed ID: 8388764

Title: FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.

PubMed ID: 8388764

DOI: 10.1093/hmg/2.2.183

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 9205108

Title: Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region.

PubMed ID: 9205108

DOI: 10.1006/geno.1997.4770

PubMed ID: 14993607

Title: Tonic inhibition in mouse hippocampal CA1 pyramidal neurons is mediated by alpha5 subunit-containing gamma-aminobutyric acid type A receptors.

PubMed ID: 14993607

DOI: 10.1073/pnas.0307231101

PubMed ID: 17370265

Title: Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry.

PubMed ID: 17370265

DOI: 10.1002/pmic.200600410

PubMed ID: 30140029

Title: Cryo-EM structure of the human alpha5beta3 GABAA receptor.

PubMed ID: 30140029

DOI: 10.1038/s41422-018-0077-8

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: 31056671

Title: Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.

PubMed ID: 31056671

DOI: 10.1093/brain/awz123

Sequence Information:

  • Length: 462
  • Mass: 52146
  • Checksum: 260A8B554113AFF9
  • Sequence:
    • MDNGMFSGFI MIKNLLLFCI SMNLSSHFGF SQMPTSSVKD ETNDNITIFT RILDGLLDGY 
DNRLRPGLGE RITQVRTDIY VTSFGPVSDT EMEYTIDVFF RQSWKDERLR FKGPMQRLPL 
NNLLASKIWT PDTFFHNGKK SIAHNMTTPN KLLRLEDDGT LLYTMRLTIS AECPMQLEDF 
PMDAHACPLK FGSYAYPNSE VVYVWTNGST KSVVVAEDGS RLNQYHLMGQ TVGTENISTS 
TGEYTIMTAH FHLKRKIGYF VIQTYLPCIM TVILSQVSFW LNRESVPART VFGVTTVLTM 
TTLSISARNS LPKVAYATAM DWFIAVCYAF VFSALIEFAT VNYFTKRGWA WDGKKALEAA 
KIKKKREVIL NKSTNAFTTG KMSHPPNIPK EQTPAGTSNT TSVSVKPSEE KTSESKKTYN 
SISKIDKMSR IVFPVLFGTF NLVYWATYLN REPVIKGAAS PK

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.