Details for: GLRA2

Gene ID: 2742

Symbol: GLRA2

Ensembl ID: ENSG00000101958

Description: glycine receptor alpha 2

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: GABAergic amacrine cell (CL4030027)
    Fold Change: 3.4241
    Cell Significance Index: 42.4700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 2.2116
    Cell Significance Index: 53.0400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 2.1882
    Cell Significance Index: 37.5000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.7623
    Cell Significance Index: 108.3200
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.0352
    Cell Significance Index: 11.7900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9935
    Cell Significance Index: 356.3400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8929
    Cell Significance Index: 40.4700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.6535
    Cell Significance Index: 20.6700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.5677
    Cell Significance Index: 12.4300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.4997
    Cell Significance Index: 6.4800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4548
    Cell Significance Index: 314.5400
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.4306
    Cell Significance Index: 4.4900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.3701
    Cell Significance Index: 682.5100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3351
    Cell Significance Index: 67.2200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2733
    Cell Significance Index: 10.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1909
    Cell Significance Index: 10.7100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1894
    Cell Significance Index: 291.6500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1732
    Cell Significance Index: 4.3200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.1484
    Cell Significance Index: 1.8500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1375
    Cell Significance Index: 7.2200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1147
    Cell Significance Index: 22.7600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1022
    Cell Significance Index: 4.5200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.0838
    Cell Significance Index: 2.0300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.0329
    Cell Significance Index: 0.6600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0191
    Cell Significance Index: 25.9800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0178
    Cell Significance Index: 33.5700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0024
    Cell Significance Index: -0.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0167
    Cell Significance Index: -10.5800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0260
    Cell Significance Index: -19.2600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0289
    Cell Significance Index: -15.7800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0303
    Cell Significance Index: -0.6000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0311
    Cell Significance Index: -0.4500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0317
    Cell Significance Index: -19.8000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0324
    Cell Significance Index: -14.7000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0325
    Cell Significance Index: -18.3100
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0475
    Cell Significance Index: -0.6000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0505
    Cell Significance Index: -14.5300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0830
    Cell Significance Index: -12.0600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0932
    Cell Significance Index: -16.7900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0938
    Cell Significance Index: -19.7600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1069
    Cell Significance Index: -18.2500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1089
    Cell Significance Index: -1.2700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1169
    Cell Significance Index: -16.0500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1331
    Cell Significance Index: -3.7200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1372
    Cell Significance Index: -4.3700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1478
    Cell Significance Index: -18.1700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1628
    Cell Significance Index: -4.0600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1687
    Cell Significance Index: -17.5700
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1698
    Cell Significance Index: -1.6100
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.1728
    Cell Significance Index: -2.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1781
    Cell Significance Index: -20.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1833
    Cell Significance Index: -21.0100
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.1896
    Cell Significance Index: -1.6400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1931
    Cell Significance Index: -19.7200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1955
    Cell Significance Index: -6.4000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1966
    Cell Significance Index: -13.2200
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2291
    Cell Significance Index: -2.1800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2342
    Cell Significance Index: -14.7600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2412
    Cell Significance Index: -18.5100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2999
    Cell Significance Index: -10.5100
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.3029
    Cell Significance Index: -2.5000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3198
    Cell Significance Index: -8.2200
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.3403
    Cell Significance Index: -4.0700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3423
    Cell Significance Index: -15.9600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.3546
    Cell Significance Index: -6.9800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3576
    Cell Significance Index: -6.9800
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.3607
    Cell Significance Index: -3.9300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3685
    Cell Significance Index: -7.6900
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.3799
    Cell Significance Index: -7.5800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3823
    Cell Significance Index: -8.2600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3839
    Cell Significance Index: -20.0000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3860
    Cell Significance Index: -18.1400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4027
    Cell Significance Index: -8.4300
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.4285
    Cell Significance Index: -3.1200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4711
    Cell Significance Index: -12.5800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.4724
    Cell Significance Index: -16.6000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.4932
    Cell Significance Index: -7.2800
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.5328
    Cell Significance Index: -2.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.5338
    Cell Significance Index: -15.3800
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.5472
    Cell Significance Index: -3.5600
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.5738
    Cell Significance Index: -5.7800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5789
    Cell Significance Index: -16.5200
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.5948
    Cell Significance Index: -8.4600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.6315
    Cell Significance Index: -14.5900
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.6317
    Cell Significance Index: -8.5900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.6522
    Cell Significance Index: -13.5300
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -0.6536
    Cell Significance Index: -6.7200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6563
    Cell Significance Index: -19.3300
  • Cell Name: immature NK T cell (CL0000914)
    Fold Change: -0.6609
    Cell Significance Index: -8.4600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.6732
    Cell Significance Index: -9.1900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6781
    Cell Significance Index: -16.9500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.6830
    Cell Significance Index: -18.5900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.6942
    Cell Significance Index: -19.9000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.7184
    Cell Significance Index: -18.8900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.7221
    Cell Significance Index: -17.6200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.7362
    Cell Significance Index: -14.9800
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.7363
    Cell Significance Index: -18.3900
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.7448
    Cell Significance Index: -18.9800
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.7512
    Cell Significance Index: -3.2700
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.7541
    Cell Significance Index: -8.3200

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. **Structure:** GLRA2 is a transmembrane receptor protein consisting of four subunits, each comprising six transmembrane domains. The extracellular loop of the receptor binds glycine, the primary inhibitory neurotransmitter in the central nervous system. 2. **Expression:** GLRA2 is widely expressed in various neuronal and non-neuronal cells, including granule cells, retinal bipolar neurons, macroglial cells, and cortical interneurons. 3. **Subcellular localization:** GLRA2 is primarily localized to the plasma membrane, where it forms chloride channels that regulate membrane potential and synaptic transmission. **Pathways and Functions:** 1. **Glycine-gated chloride channel activity:** GLRA2 forms a complex with other glycine receptors to create chloride channels that allow the influx of chloride ions into the neuron, leading to hyperpolarization and reduced excitability. 2. **Chemical synaptic transmission:** GLRA2 plays a critical role in regulating excitatory postsynaptic potentials (EPSPs) and inhibitory postsynaptic potentials (IPSPs) in the central nervous system. 3. **Neurotransmitter receptor activity:** GLRA2 interacts with glycine, the primary inhibitory neurotransmitter, to modulate synaptic transmission and neuronal excitability. 4. **Metal ion binding:** GLRA2 binds zinc ions, which are essential for the proper functioning of the receptor and the maintenance of neuronal excitability. **Clinical Significance:** 1. **Neurological disorders:** Alterations in GLRA2 expression or function have been implicated in various neurological disorders, including epilepsy, autism spectrum disorder, and schizophrenia. 2. **Neurodevelopmental disorders:** GLRA2 mutations have been associated with developmental delays, intellectual disability, and seizures in individuals with autism spectrum disorder. 3. **Neurosurgical applications:** GLRA2 has been targeted in neurosurgical procedures, such as epilepsy surgery, to modulate synaptic transmission and reduce seizure activity. In conclusion, the glycine receptor alpha 2 (GLRA2) gene plays a crucial role in regulating neuronal excitability and synaptic transmission through its involvement in glycine-gated chloride channels. Further research into the functions and dysregulation of GLRA2 is essential for understanding the underlying mechanisms of neurological disorders and developing novel therapeutic strategies. **Recommendations:** 1. **Further research:** Investigate the role of GLRA2 in various neurological disorders and its potential as a therapeutic target. 2. **Functional studies:** Conduct in vitro and in vivo studies to elucidate the mechanisms of GLRA2-mediated synaptic transmission and neuronal excitability. 3. **Clinical trials:** Design clinical trials to evaluate the efficacy and safety of GLRA2-targeted therapies in neurological disorders. By advancing our understanding of GLRA2 and its role in regulating neuronal excitability, we can uncover new avenues for treating neurological disorders and improving patient outcomes.

Genular Protein ID: 2416713640

Symbol: GLRA2_HUMAN

Name: N/A

UniProtKB Accession Codes:

P23416 A8K0J6 B2R6I8 B7Z4F5 J3KQ59 Q53YX7 Q6ICQ0 Q99862

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EMBL 37 EMDB 4 Ensembl 2 ExpressionAtlas 1 GO 21 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 10 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 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 2 RNAct 1 Reactome 1 RefSeq 7 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: 2155780

Title: Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.

PubMed ID: 2155780

DOI: 10.1002/j.1460-2075.1990.tb08172.x

PubMed ID: 9674912

Title: Analysis of the genomic structure of the human glycine receptor alpha-2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.

PubMed ID: 9674912

DOI: 10.1002/(sici)1096-8628(19980630)78:2<176::aid-ajmg16>3.3.co;2-f

PubMed ID: 15302677

Title: Differential agonist sensitivity of glycine receptor alpha2 subunit splice variants.

PubMed ID: 15302677

DOI: 10.1038/sj.bjp.0705875

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 8973915

Title: Structure of the human alpha 2 subunit gene of the glycine receptor: use of vectorette and Alu-exon PCR.

PubMed ID: 8973915

DOI: 10.1101/gr.6.12.1200

PubMed ID: 16144831

Title: Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors.

PubMed ID: 16144831

DOI: 10.1074/jbc.m508303200

PubMed ID: 23895467

Title: Zinc-dependent modulation of alpha2- and alpha3-glycine receptor subunits by ethanol.

PubMed ID: 23895467

DOI: 10.1111/acer.12192

PubMed ID: 25445488

Title: Functional reconstitution of glycinergic synapses incorporating defined glycine receptor subunit combinations.

PubMed ID: 25445488

DOI: 10.1016/j.neuropharm.2014.10.026

PubMed ID: 34473954

Title: Characterization of the subunit composition and structure of adult human glycine receptors.

PubMed ID: 34473954

DOI: 10.1016/j.neuron.2021.08.019

PubMed ID: 20479760

Title: Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

PubMed ID: 20479760

DOI: 10.1038/mp.2010.54

PubMed ID: 26370147

Title: Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.

PubMed ID: 26370147

DOI: 10.1038/mp.2015.139

PubMed ID: 28588452

Title: Structure-Function Analysis of the GlyR alpha2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function.

PubMed ID: 28588452

DOI: 10.3389/fnmol.2017.00158

PubMed ID: 35294868

Title: Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

PubMed ID: 35294868

DOI: 10.1016/j.celrep.2022.110517

Sequence Information:

  • Length: 452
  • Mass: 52002
  • Checksum: 9EE74B3F49A555EA
  • Sequence:
    • MNRQLVNILT ALFAFFLETN HFRTAFCKDH DSRSGKQPSQ TLSPSDFLDK LMGRTSGYDA 
RIRPNFKGPP VNVTCNIFIN SFGSVTETTM DYRVNIFLRQ QWNDSRLAYS EYPDDSLDLD 
PSMLDSIWKP DLFFANEKGA NFHDVTTDNK LLRISKNGKV LYSIRLTLTL SCPMDLKNFP 
MDVQTCTMQL ESFGYTMNDL IFEWLSDGPV QVAEGLTLPQ FILKEEKELG YCTKHYNTGK 
FTCIEVKFHL ERQMGYYLIQ MYIPSLLIVI LSWVSFWINM DAAPARVALG ITTVLTMTTQ 
SSGSRASLPK VSYVKAIDIW MAVCLLFVFA ALLEYAAVNF VSRQHKEFLR LRRRQKRQNK 
EEDVTRESRF NFSGYGMGHC LQVKDGTAVK ATPANPLPQP PKDGDAIKKK FVDRAKRIDT 
ISRAAFPLAF LIFNIFYWIT YKIIRHEDVH KK

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.