Details for: GLRB

Gene ID: 2743

Symbol: GLRB

Ensembl ID: ENSG00000109738

Description: glycine receptor beta

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 165.0645
    Cell Significance Index: -25.6800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 100.6926
    Cell Significance Index: -25.5400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 53.1853
    Cell Significance Index: -25.1100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.3364
    Cell Significance Index: -23.2400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.8158
    Cell Significance Index: -25.6700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.3659
    Cell Significance Index: 474.6000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.8219
    Cell Significance Index: 68.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.6723
    Cell Significance Index: 73.9700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.4033
    Cell Significance Index: 94.3600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.2941
    Cell Significance Index: 36.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.2602
    Cell Significance Index: 452.0100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.8759
    Cell Significance Index: 13.2000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7113
    Cell Significance Index: 491.9400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.6631
    Cell Significance Index: 8.2300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.6080
    Cell Significance Index: 8.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3713
    Cell Significance Index: 22.8200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3145
    Cell Significance Index: 24.1400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2280
    Cell Significance Index: 10.6300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2257
    Cell Significance Index: 11.8500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1993
    Cell Significance Index: 4.7800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1854
    Cell Significance Index: 4.0600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1665
    Cell Significance Index: 2.8500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1455
    Cell Significance Index: 27.7000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1403
    Cell Significance Index: 7.8700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1060
    Cell Significance Index: 57.9000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0356
    Cell Significance Index: 5.7800
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.0278
    Cell Significance Index: 0.3600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0263
    Cell Significance Index: 4.4900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0123
    Cell Significance Index: 1.2200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0065
    Cell Significance Index: -4.0300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0098
    Cell Significance Index: -5.5300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0109
    Cell Significance Index: -20.5000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: -0.0118
    Cell Significance Index: -10.7000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0133
    Cell Significance Index: -9.8200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0138
    Cell Significance Index: -25.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0168
    Cell Significance Index: -25.8900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0188
    Cell Significance Index: -2.0400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0191
    Cell Significance Index: -26.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0202
    Cell Significance Index: -0.7100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0217
    Cell Significance Index: -15.9500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0258
    Cell Significance Index: -1.5500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0341
    Cell Significance Index: -25.8100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0349
    Cell Significance Index: -15.8200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0394
    Cell Significance Index: -25.0000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0495
    Cell Significance Index: -1.0500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0595
    Cell Significance Index: -26.3000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0646
    Cell Significance Index: -1.8600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0658
    Cell Significance Index: -13.8600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0701
    Cell Significance Index: -4.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0738
    Cell Significance Index: -2.4200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0759
    Cell Significance Index: -21.8400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0835
    Cell Significance Index: -2.6600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0838
    Cell Significance Index: -11.5100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1034
    Cell Significance Index: -2.2400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1179
    Cell Significance Index: -23.4000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1195
    Cell Significance Index: -15.4400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1261
    Cell Significance Index: -22.7300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1414
    Cell Significance Index: -1.5400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1427
    Cell Significance Index: -16.3500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1442
    Cell Significance Index: -4.6200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1529
    Cell Significance Index: -3.0700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1661
    Cell Significance Index: -24.1500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1682
    Cell Significance Index: -3.4900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1712
    Cell Significance Index: -21.9500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1853
    Cell Significance Index: -22.7800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1881
    Cell Significance Index: -3.7200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1887
    Cell Significance Index: -8.5600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1906
    Cell Significance Index: -22.2100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1969
    Cell Significance Index: -20.1100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1988
    Cell Significance Index: -14.8200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2020
    Cell Significance Index: -13.9700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2054
    Cell Significance Index: -23.4500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2374
    Cell Significance Index: -24.7200
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2911
    Cell Significance Index: -2.7700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3205
    Cell Significance Index: -25.3800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3214
    Cell Significance Index: -4.6000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3334
    Cell Significance Index: -8.3400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3468
    Cell Significance Index: -16.3000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3496
    Cell Significance Index: -4.3600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3524
    Cell Significance Index: -8.7900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3532
    Cell Significance Index: -4.1200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3729
    Cell Significance Index: -26.3700
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3771
    Cell Significance Index: -4.7600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4029
    Cell Significance Index: -25.9900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4052
    Cell Significance Index: -8.6300
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.4269
    Cell Significance Index: -4.7100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4319
    Cell Significance Index: -15.1300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4369
    Cell Significance Index: -22.7600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4378
    Cell Significance Index: -22.7400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4403
    Cell Significance Index: -6.5000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4420
    Cell Significance Index: -9.5500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4435
    Cell Significance Index: -15.4100
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.5165
    Cell Significance Index: -10.7800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.5412
    Cell Significance Index: -5.1300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.5681
    Cell Significance Index: -24.7000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6034
    Cell Significance Index: -22.1500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.6469
    Cell Significance Index: -10.6600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6667
    Cell Significance Index: -17.5300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.7017
    Cell Significance Index: -7.3100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.7072
    Cell Significance Index: -17.1300

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 GLRB gene is a single copy gene located on chromosome 5q33.3. It encodes a subunit of the glycine receptor, which is a ligand-gated chloride channel. The GLRB subunit is composed of four transmembrane domains and a cytoplasmic domain that interacts with other subunits to form the functional receptor. The GLRB gene is highly expressed in the nervous system, particularly in the brain, where it is involved in the regulation of synaptic transmission and neuronal development. **Pathways and Functions:** The GLRB gene is involved in several key pathways and functions, including: 1. **Glycine-gated chloride channel activity**: The GLRB subunit is essential for the formation of glycine-gated chloride channels, which are involved in the modulation of synaptic transmission. 2. **Excitatory postsynaptic potential**: The GLRB receptor is involved in the regulation of excitatory postsynaptic potentials (EPSPs), which are essential for learning and memory. 3. **Neuronal development**: The GLRB gene is involved in the regulation of neuronal development, particularly in the formation of excitatory and inhibitory synapses. 4. **Neurotransmitter receptor activity**: The GLRB receptor is involved in the regulation of neurotransmitter receptor activity, particularly in the modulation of synaptic transmission. **Clinical Significance:** The GLRB gene has been implicated in several neurological disorders, including: 1. **Epilepsy**: Mutations in the GLRB gene have been associated with epilepsy, particularly in cases of juvenile myoclonic epilepsy. 2. **Neurodevelopmental disorders**: The GLRB gene has been implicated in neurodevelopmental disorders, such as autism spectrum disorder and attention deficit hyperactivity disorder (ADHD). 3. **Neurodegenerative diseases**: The GLRB gene has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. In conclusion, the GLRB gene plays a crucial role in the regulation of neuronal excitability and synaptic transmission. Its dysregulation has been implicated in several neurological disorders, highlighting the importance of further research into the mechanisms underlying GLRB-related disease. **Significantly expressed cells:** The GLRB gene is highly expressed in the following cells: 1. L2/3-6 intratelencephalic projecting glutamatergic neuron 2. pvalb GABAergic cortical interneuron 3. Neuron 4. Near-projecting glutamatergic cortical neuron 5. Corticothalamic-projecting glutamatergic cortical neuron 6. Chandelier pvalb GABAergic cortical interneuron 7. L6b glutamatergic cortical neuron 8. Caudal ganglionic eminence derived GABAergic cortical interneuron 9. Vip GABAergic cortical interneuron 10. Sncg GABAergic cortical interneuron **Proteins:** The GLRB gene encodes a single protein, GLRB_HUMAN (Glycine receptor subunit beta).

Genular Protein ID: 3134143738

Symbol: GLRB_HUMAN

Name: Glycine receptor subunit beta

UniProtKB Accession Codes:

Database IDs:

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. 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.