Details for: GABRA4

Gene ID: 2557

Symbol: GABRA4

Ensembl ID: ENSG00000109158

Description: gamma-aminobutyric acid type A receptor subunit alpha4

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: transit amplifying cell of colon (CL0009011)
    Fold Change: 3.7760
    Cell Significance Index: 120.9400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.8209
    Cell Significance Index: 106.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.8190
    Cell Significance Index: 124.6900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.1872
    Cell Significance Index: 438.7600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.9063
    Cell Significance Index: 362.7700
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 1.6098
    Cell Significance Index: 2.0800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.5911
    Cell Significance Index: 570.6900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.4347
    Cell Significance Index: 96.4700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.1560
    Cell Significance Index: 32.9900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0586
    Cell Significance Index: 955.7900
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.8054
    Cell Significance Index: 8.1300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6413
    Cell Significance Index: 104.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5732
    Cell Significance Index: 43.9900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5620
    Cell Significance Index: 61.1300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.4978
    Cell Significance Index: 8.5100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4911
    Cell Significance Index: 339.6600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4836
    Cell Significance Index: 34.2000
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.4340
    Cell Significance Index: 5.7900
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.3647
    Cell Significance Index: 4.7300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2662
    Cell Significance Index: 15.9800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1951
    Cell Significance Index: 13.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1704
    Cell Significance Index: 16.8600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0998
    Cell Significance Index: 44.1200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0578
    Cell Significance Index: 2.0300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0431
    Cell Significance Index: 2.6500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0425
    Cell Significance Index: 0.9200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0393
    Cell Significance Index: 7.8000
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0221
    Cell Significance Index: 0.2100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0120
    Cell Significance Index: 0.3000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0062
    Cell Significance Index: -0.2800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0118
    Cell Significance Index: -21.6900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0142
    Cell Significance Index: -21.8200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0146
    Cell Significance Index: -27.4900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0208
    Cell Significance Index: -0.5000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0226
    Cell Significance Index: -0.4800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0362
    Cell Significance Index: -16.4200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0371
    Cell Significance Index: -27.2300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0409
    Cell Significance Index: -30.9500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0429
    Cell Significance Index: -31.7800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0435
    Cell Significance Index: -27.6000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0528
    Cell Significance Index: -1.1400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0561
    Cell Significance Index: -1.1100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0613
    Cell Significance Index: -34.5900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0642
    Cell Significance Index: -2.7900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0709
    Cell Significance Index: -20.4000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1304
    Cell Significance Index: -3.6400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1390
    Cell Significance Index: -25.0600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1397
    Cell Significance Index: -1.6300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1547
    Cell Significance Index: -21.2400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1572
    Cell Significance Index: -1.4900
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1708
    Cell Significance Index: -2.1900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1820
    Cell Significance Index: -26.4500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1847
    Cell Significance Index: -31.5400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1859
    Cell Significance Index: -3.9600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1947
    Cell Significance Index: -20.2700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2044
    Cell Significance Index: -25.1300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2055
    Cell Significance Index: -4.1300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2077
    Cell Significance Index: -2.9800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2171
    Cell Significance Index: -45.7300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2292
    Cell Significance Index: -7.3000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2379
    Cell Significance Index: -30.5000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2679
    Cell Significance Index: -30.6900
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2680
    Cell Significance Index: -2.9200
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.2699
    Cell Significance Index: -3.4200
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -0.2850
    Cell Significance Index: -2.9300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3574
    Cell Significance Index: -28.3100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3603
    Cell Significance Index: -22.7100
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.3629
    Cell Significance Index: -4.3400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3804
    Cell Significance Index: -9.4900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3834
    Cell Significance Index: -13.4300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3899
    Cell Significance Index: -4.9200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4148
    Cell Significance Index: -13.5800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4249
    Cell Significance Index: -26.0500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4609
    Cell Significance Index: -6.8100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4664
    Cell Significance Index: -26.1700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4910
    Cell Significance Index: -25.7800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5126
    Cell Significance Index: -33.0700
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.5447
    Cell Significance Index: -10.7200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5617
    Cell Significance Index: -26.1900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.5936
    Cell Significance Index: -27.9000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.6421
    Cell Significance Index: -4.3500
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.6840
    Cell Significance Index: -13.6400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.6896
    Cell Significance Index: -21.8100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.7088
    Cell Significance Index: -26.0200
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.7134
    Cell Significance Index: -9.5100
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.7168
    Cell Significance Index: -6.4800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.7414
    Cell Significance Index: -21.3600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.7455
    Cell Significance Index: -15.5600
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.7657
    Cell Significance Index: -5.3100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.7950
    Cell Significance Index: -11.9800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.8404
    Cell Significance Index: -14.5300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.8572
    Cell Significance Index: -21.8400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.9391
    Cell Significance Index: -24.1400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -1.0003
    Cell Significance Index: -26.7100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.0025
    Cell Significance Index: -26.3600
  • Cell Name: L5 intratelencephalic projecting glutamatergic neuron (CL4030064)
    Fold Change: -1.0088
    Cell Significance Index: -10.8900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.0423
    Cell Significance Index: -30.7000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -1.0462
    Cell Significance Index: -26.1300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -1.0603
    Cell Significance Index: -26.4400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.0895
    Cell Significance Index: -22.1700

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 GABRA4 gene is a member of the GABRA gene family, which encodes for the alpha subunits of the GABA_A receptor complex. The GABRA4 gene is characterized by its high expression in interneurons, a type of inhibitory neuron that regulates neuronal excitability and synaptic transmission. The GABRA4 gene is also expressed in other cell types, including endothelial cells and cardiac muscle cells, highlighting its broader role in the nervous system. **Pathways and Functions:** The GABRA4 gene is involved in several key pathways, including: 1. **GABAergic signaling pathway:** The GABRA4 gene plays a critical role in regulating GABAergic synaptic transmission, which is essential for inhibitory neurotransmission in the nervous system. 2. **Chloride channel activity:** The GABRA4 gene encodes for a subunit of the GABA_A receptor complex, which modulates chloride ion channels and regulates neuronal excitability. 3. **Inhibitory synapse assembly:** The GABRA4 gene is involved in the assembly of inhibitory synapses, which are critical for regulating neuronal excitability and synaptic transmission. 4. **Regulation of postsynaptic membrane potential:** The GABRA4 gene helps regulate the postsynaptic membrane potential, which is essential for synaptic transmission and neuronal excitability. **Clinical Significance:** Dysregulation of the GABRA4 gene has been implicated in various neurological disorders, including: 1. **Epilepsy:** Alterations in GABRA4 gene expression have been linked to the development of epilepsy, a neurological disorder characterized by recurrent seizures. 2. **Anxiety disorders:** The GABRA4 gene has been associated with anxiety disorders, including generalized anxiety disorder and panic disorder. 3. **Sleep disorders:** The GABRA4 gene has been implicated in sleep disorders, including insomnia and sleep apnea. In conclusion, the GABRA4 gene plays a critical role in regulating GABAergic signaling and synaptic transmission, and its dysregulation has been implicated in various neurological disorders. Further research is needed to fully elucidate the mechanisms underlying GABRA4 gene function and its implications in neurological disorders. **Proteins:** The GBRA4_HUMAN protein, encoded by the GABRA4 gene, is a 322-amino acid protein that contains a transmembrane domain and a cytoplasmic domain. The protein is highly conserved across species, suggesting a conserved function in regulating GABAergic signaling and synaptic transmission. **Significantly expressed cells:** The GABRA4 gene is significantly expressed in various cell types, including: 1. **Interneuron:** Interneurons are a type of inhibitory neuron that regulates neuronal excitability and synaptic transmission. 2. **Blood vessel endothelial cell:** Endothelial cells are a type of cell that lines blood vessels and regulates blood flow and blood pressure. 3. **Double negative thymocyte:** Thymocytes are a type of cell that develops in the thymus and regulates the immune system. 4. **Cardiac muscle cell:** Cardiac muscle cells are a type of cell that regulates heart function and contraction. 5. **Lamp5 GABAergic cortical interneuron:** Lamp5 GABAergic cortical interneurons are a type of interneuron that regulates cortical excitability and synaptic transmission. 6. **Sst GABAergic cortical interneuron:** Sst GABAergic cortical interneurons are a type of interneuron that regulates cortical excitability and synaptic transmission. 7. **Pvalb GABAergic cortical interneuron:** Pvalb GABAergic cortical interneurons are a type of interneuron that regulates cortical excitability and synaptic transmission. 8. **Sncg GABAergic cortical interneuron:** Sncg GABAergic cortical interneurons are a type of interneuron that regulates cortical excitability and synaptic transmission. 9. **Caudal ganglionic eminence derived GABAergic cortical interneuron:** Caudal ganglionic eminence derived GABAergic cortical interneurons are a type of interneuron that regulates cortical excitability and synaptic transmission. 10. **Vip GABAergic cortical interneuron:** Vip GABAergic cortical interneurons are a type of interneuron that regulates cortical excitability and synaptic transmission. In conclusion, the GABRA4 gene is a critical component of the GABAergic signaling pathway, and its dysregulation has been implicated in various neurological disorders. Further research is needed to fully elucidate the mechanisms underlying GABRA4 gene function and its implications in neurological disorders.

Genular Protein ID: 260422789

Symbol: GBRA4_HUMAN

Name: N/A

UniProtKB Accession Codes:

P48169 Q8IYR7

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 85 DrugCentral 1 EMBL 6 EMDB 5 Ensembl 1 ExpressionAtlas 1 GO 19 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 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 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 3 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TopDownProteomics 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8719416

Title: Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site.

PubMed ID: 8719416

DOI: 10.1016/0922-4106(95)90072-1

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 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: 7607683

Title: Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster.

PubMed ID: 7607683

DOI: 10.1016/0888-7543(95)80178-o

PubMed ID: 35355020

Title: Differential assembly diversifies GABAA receptor structures and signalling.

PubMed ID: 35355020

DOI: 10.1038/s41586-022-04517-3

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 554
  • Mass: 61623
  • Checksum: B159F9934FB02390
  • Sequence:
    • MVSAKKVPAI ALSAGVSFAL LRFLCLAVCL NESPGQNQKE EKLCTENFTR ILDSLLDGYD 
NRLRPGFGGP VTEVKTDIYV TSFGPVSDVE MEYTMDVFFR QTWIDKRLKY DGPIEILRLN 
NMMVTKVWTP DTFFRNGKKS VSHNMTAPNK LFRIMRNGTI LYTMRLTISA ECPMRLVDFP 
MDGHACPLKF GSYAYPKSEM IYTWTKGPEK SVEVPKESSS LVQYDLIGQT VSSETIKSIT 
GEYIVMTVYF HLRRKMGYFM IQTYIPCIMT VILSQVSFWI NKESVPARTV FGITTVLTMT 
TLSISARHSL PKVSYATAMD WFIAVCFAFV FSALIEFAAV NYFTNIQMEK AKRKTSKPPQ 
EVPAAPVQRE KHPEAPLQNT NANLNMRKRT NALVHSESDV GNRTEVGNHS SKSSTVVQES 
SKGTPRSYLA SSPNPFSRAN AAETISAARA LPSASPTSIR TGYMPRKASV GSASTRHVFG 
SRLQRIKTTV NTIGATGKLS ATPPPSAPPP SGSGTSKIDK YARILFPVTF GAFNMVYWVV 
YLSKDTMEKS ESLM

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.