Details for: GLRB

Gene ID: 2743

Symbol: GLRB

Ensembl ID: ENSG00000109738

Description: glycine receptor beta

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.94
    Marker Score: 119185
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.92
    Marker Score: 70797
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.88
    Marker Score: 7671
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.85
    Marker Score: 17446
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.8
    Marker Score: 17118
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.76
    Marker Score: 7302.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.76
    Marker Score: 15130
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.69
    Marker Score: 6536
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.68
    Marker Score: 63739
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.67
    Marker Score: 12826.5
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1163
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.59
    Marker Score: 31719
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.59
    Marker Score: 2454
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.53
    Marker Score: 15832
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168763
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.44
    Marker Score: 6639
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.41
    Marker Score: 21065
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.24
    Marker Score: 2347
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.13
    Marker Score: 3232
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.1
    Marker Score: 1364
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71802
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48027
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.96
    Marker Score: 653
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.96
    Marker Score: 399
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.96
    Marker Score: 1944
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5345
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 370
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.92
    Marker Score: 456
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.92
    Marker Score: 14328
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.89
    Marker Score: 410
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5283
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.86
    Marker Score: 1755
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 620
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.8
    Marker Score: 480
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8
    Marker Score: 3346
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1256
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.77
    Marker Score: 324
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 703
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.75
    Marker Score: 497
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.75
    Marker Score: 1032
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.73
    Marker Score: 199
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.7
    Marker Score: 1224
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.69
    Marker Score: 636
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.69
    Marker Score: 2310
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.68
    Marker Score: 703.5
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.67
    Marker Score: 1130
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.67
    Marker Score: 2805
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.63
    Marker Score: 1442
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.62
    Marker Score: 20889
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.61
    Marker Score: 254
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.61
    Marker Score: 233
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6
    Marker Score: 383
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.58
    Marker Score: 666
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.55
    Marker Score: 306
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.54
    Marker Score: 778
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.54
    Marker Score: 507.5
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.52
    Marker Score: 631
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.51
    Marker Score: 247
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.51
    Marker Score: 10914
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.49
    Marker Score: 1309
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.47
    Marker Score: 225
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.45
    Marker Score: 283
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.43
    Marker Score: 244
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.43
    Marker Score: 204
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.43
    Marker Score: 185
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.42
    Marker Score: 190
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.41
    Marker Score: 984.5
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.41
    Marker Score: 570
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.41
    Marker Score: 2155
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.41
    Marker Score: 130
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.4
    Marker Score: 387
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.39
    Marker Score: 229
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.39
    Marker Score: 215
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.38
    Marker Score: 730
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.38
    Marker Score: 2838.5
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.36
    Marker Score: 211
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.36
    Marker Score: 186
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.35
    Marker Score: 307
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.35
    Marker Score: 1891.5
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.35
    Marker Score: 219
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.35
    Marker Score: 343
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.35
    Marker Score: 1227
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.34
    Marker Score: 621
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.34
    Marker Score: 158.5
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.34
    Marker Score: 336
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.33
    Marker Score: 87
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.33
    Marker Score: 7324.5
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.32
    Marker Score: 316
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.32
    Marker Score: 1083
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.31
    Marker Score: 714

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Other Information

**Key characteristics:** - GLRB is a single-pass transmembrane protein with a molecular weight of approximately 140 kDa. - It is expressed in high levels in the central nervous system, particularly in neurons and interneurons. - GLRB is a member of the glycine receptor family of ion channels, which are ligand-gated ion channels that are activated by the binding of glycine ions. - The GLRB channel is permeable to glycine ions, which is the ligand for the protein. - When glycine binds to the GLRB channel, it triggers the opening of the channel, allowing glycine ions to flow into the cell. - This influx of glycine ions causes a variety of cellular responses, including the activation of downstream signaling pathways and the modulation of neuronal activity. **Pathways and functions:** - The GLRB channel is involved in a variety of cellular processes, including synaptic transmission, excitable behavior, and neuronal development. - In synaptic transmission, the GLRB channel is expressed on the surface of presynaptic neurons and is activated by the binding of glycine ions from the synaptic cleft. - This activation of the GLRB channel allows the release of neurotransmitters from the presynaptic neuron, which can then bind to receptors on the postsynaptic neuron, triggering a synaptic response. - The GLRB channel is also involved in excitable behavior, such as anxiety, fear, and seizures. - In neuronal development, the GLRB channel is expressed in a variety of neural cell types and is involved in the development of neural circuits. **Clinical significance:** - Mutations in the GLRB gene have been linked to a number of neurological disorders, including autism, schizophrenia, and epilepsy. - In some cases, mutations in the GLRB gene can also cause epilepsy, anxiety, and other neurological symptoms. - The development of drugs that block the GLRB channel has been investigated as a treatment for neurological disorders that are caused by GLRB mutations.

Genular Protein ID: 3134143738

Symbol: GLRB_HUMAN

Name: Glycine receptor subunit beta

UniProtKB Accession Codes:

P48167 A8K3K2 D3DP23 F5GWE1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChEBI 1 ChEMBL 3 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 7 DrugCentral 1 EMBL 9 Ensembl 3 ExpressionAtlas 1 GO 28 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 12 PDBsum 8 PIR 1 PRINTS 2 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 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 4 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8717357

Title: The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes.

PubMed ID: 8717357

DOI: 10.1016/0169-328x(95)00215-e

PubMed ID: 9676428

Title: The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism.

PubMed ID: 9676428

DOI: 10.1006/geno.1998.5324

PubMed ID: 15028279

Title: PCR isolation and cloning of novel splice variant mRNAs from known drug target genes.

PubMed ID: 15028279

DOI: 10.1016/j.ygeno.2003.09.023

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: 14551753

Title: Kinetic analysis of recombinant mammalian alpha(1) and alpha(1)beta glycine receptor channels.

PubMed ID: 14551753

DOI: 10.1007/s00249-003-0286-y

PubMed ID: 12684523

Title: Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.

PubMed ID: 12684523

DOI: 10.1074/jbc.m301070200

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: 16144831

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

PubMed ID: 16144831

DOI: 10.1074/jbc.m508303200

PubMed ID: 22715885

Title: Stoichiometry and subunit arrangement of alpha1beta glycine receptors as determined by atomic force microscopy.

PubMed ID: 22715885

DOI: 10.1021/bi300063m

PubMed ID: 22973015

Title: Stoichiometry of the human glycine receptor revealed by direct subunit counting.

PubMed ID: 22973015

DOI: 10.1523/jneurosci.2050-12.2012

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: 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: 11929858

Title: Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

PubMed ID: 11929858

DOI: 10.1093/hmg/11.7.853

PubMed ID: 21391991

Title: Novel mutation in GLRB in a large family with hereditary hyperekplexia.

PubMed ID: 21391991

DOI: 10.1111/j.1399-0004.2011.01661.x

PubMed ID: 23238346

Title: Novel missense mutations in the glycine receptor beta subunit gene (GLRB) in startle disease.

PubMed ID: 23238346

DOI: 10.1016/j.nbd.2012.12.001

PubMed ID: 35526563

Title: Clinical, genetic, and functional characterization of the glycine receptor beta-subunit A455P variant in a family affected by hyperekplexia syndrome.

PubMed ID: 35526563

DOI: 10.1016/j.jbc.2022.102018

Sequence Information:

  • Length: 497
  • Mass: 56122
  • Checksum: C1F0B407601D3625
  • Sequence:
    • MKFLLTTAFL ILISLWVEEA YSKEKSSKKG KGKKKQYLCP SQQSAEDLAR VPANSTSNIL 
NRLLVSYDPR IRPNFKGIPV DVVVNIFINS FGSIQETTMD YRVNIFLRQK WNDPRLKLPS 
DFRGSDALTV DPTMYKCLWK PDLFFANEKS ANFHDVTQEN ILLFIFRDGD VLVSMRLSIT 
LSCPLDLTLF PMDTQRCKMQ LESFGYTTDD LRFIWQSGDP VQLEKIALPQ FDIKKEDIEY 
GNCTKYYKGT GYYTCVEVIF TLRRQVGFYM MGVYAPTLLI VVLSWLSFWI NPDASAARVP 
LGIFSVLSLA SECTTLAAEL PKVSYVKALD VWLIACLLFG FASLVEYAVV QVMLNNPKRV 
EAEKARIAKA EQADGKGGNV AKKNTVNGTG TPVHISTLQV GETRCKKVCT SKSDLRSNDF 
SIVGSLPRDF ELSNYDCYGK PIEVNNGLGK SQAKNNKKPP PAKPVIPTAA KRIDLYARAL 
FPFCFLFFNV IYWSIYL

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. For the full schema, download it here.